SPMIP10

Chr 5

sperm microtubule inner protein 10

Also known as: C5orf48, TEX43, Tseg7

NCBI Gene: 389320 ENSG00000196900 UniProt: Q6ZNM6 OMIM: 621705

Predicted to be involved in flagellated sperm motility. Predicted to be active in axonemal B tubule inner sheath and sperm flagellum. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

Predicted to be involved in flagellated sperm motility. Predicted to be active in axonemal B tubule inner sheath and sperm flagellum. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.70

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.70LOEUF

pLI 0.001

Z-score 0.28

OE 0.87 (0.45–1.70)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.50Z-score

OE missense 0.83 (0.68–1.03)

60 obs / 72.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.87 (0.45–1.70)

0≤0.351.4

Missense OE?0.83 (0.68–1.03)

0≤0.61.4

Synonymous OE?0.97

0≤1.21.6

LoF obs/exp: 5 / 5.7Missense obs/exp: 60 / 72.0Syn Z: 0.11

Background carrier burden — how many people carry a rare variant somewhere in SPMIP10?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 370

153 rare PASS variants

Rare truncating (LoF)

1 in 4,600

36 rare PASS variants

Rare synonymous (reference)

1 in 1,800

59 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SPMIP10. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 410	1 in 11,000
South Asian	~43k	1 in 670	1 in 1,600
Remaining (unassigned)	~30k	1 in 250	1 in 5,000
European (Finnish)	~27k	1 in 5,300	none seen
Admixed American	~22k	1 in 360	1 in 1,100
African / African American	~21k	1 in 480	1 in 1,000
East Asian	~20k	1 in 250	1 in 2,000
Ashkenazi Jewish	~13k	1 in 930	none seen
Middle Eastern	~2,884	1 in 360	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 2 of 3 coding exons well covered in gnomAD exomes; exon 2 marginal. Genomes: all 3.? see exons ↓