Incidental Mutation 'R3789:Spa17'
ID 272440
Institutional Source Beutler Lab
Gene Symbol Spa17
Ensembl Gene ENSMUSG00000001948
Gene Name sperm autoantigenic protein 17
Synonyms Sp17, band 34
MMRRC Submission 041604-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R3789 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 37514590-37525018 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 37523141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 49 (K49Q)
Ref Sequence ENSEMBL: ENSMUSP00000002013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002013] [ENSMUST00000213126] [ENSMUST00000214786] [ENSMUST00000215474] [ENSMUST00000215829]
AlphaFold Q62252
Predicted Effect possibly damaging
Transcript: ENSMUST00000002013
AA Change: K49Q

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000002013
Gene: ENSMUSG00000001948
AA Change: K49Q

DomainStartEndE-ValueType
RIIa 14 51 7.04e-15 SMART
low complexity region 75 86 N/A INTRINSIC
IQ 111 133 7.4e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000213126
Predicted Effect probably benign
Transcript: ENSMUST00000214786
AA Change: K49Q

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215336
Predicted Effect probably benign
Transcript: ENSMUST00000215474
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215678
Predicted Effect probably benign
Transcript: ENSMUST00000215829
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217567
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein present at the cell surface. The N-terminus has sequence similarity to human cAMP-dependent protein kinase A (PKA) type II alpha regulatory subunit (RIIa) while the C-terminus has an IQ calmodulin-binding motif. The central portion of the protein has carbohydrate binding motifs and likely functions in cell-cell adhesion. The protein was initially characterized by its involvement in the binding of sperm to the zona pellucida of the oocyte. Recent studies indicate that it is also involved in additional cell-cell adhesion functions such as immune cell migration and metastasis. A retrotransposed pseudogene is present on chromosome 10q22.[provided by RefSeq, Jan 2009]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,460,668 (GRCm39) I4226N probably damaging Het
Abhd16a A G 17: 35,320,563 (GRCm39) N411S probably damaging Het
Acvrl1 C T 15: 101,035,350 (GRCm39) T292M probably damaging Het
Adamts8 T C 9: 30,870,588 (GRCm39) S688P probably damaging Het
Adprs A T 4: 126,210,544 (GRCm39) I312N probably damaging Het
Bclaf3 A G X: 158,349,492 (GRCm39) H619R probably benign Het
Clca4a C A 3: 144,680,717 (GRCm39) G20V probably damaging Het
Col12a1 C A 9: 79,547,005 (GRCm39) V2276L possibly damaging Het
Cstdc2 C A 2: 148,689,878 (GRCm39) E92* probably null Het
Drosha T A 15: 12,912,623 (GRCm39) Y1080* probably null Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Ebf2 T A 14: 67,476,942 (GRCm39) probably null Het
Emc8 T C 8: 121,384,869 (GRCm39) T195A probably benign Het
Frs3 G A 17: 48,010,621 (GRCm39) probably null Het
Fsip2 T C 2: 82,813,058 (GRCm39) S640P probably damaging Het
Hdhd2 G A 18: 77,042,883 (GRCm39) probably null Het
Hivep3 T C 4: 119,955,613 (GRCm39) S1310P probably damaging Het
Hltf C T 3: 20,123,211 (GRCm39) P200S probably damaging Het
Lnpk A T 2: 74,352,607 (GRCm39) S358R probably benign Het
Lrp1 T C 10: 127,407,838 (GRCm39) D1817G possibly damaging Het
Lrpprc T C 17: 85,078,956 (GRCm39) I253V probably benign Het
Map2 A G 1: 66,456,022 (GRCm39) T1512A probably damaging Het
Mcm9 G A 10: 53,492,113 (GRCm39) R403W probably damaging Het
Mms22l A G 4: 24,517,115 (GRCm39) D222G possibly damaging Het
Mug1 G A 6: 121,861,587 (GRCm39) V1350I probably benign Het
Or56b2j T A 7: 104,353,156 (GRCm39) D127E probably damaging Het
Pclo A G 5: 14,730,464 (GRCm39) probably benign Het
Plekha7 A C 7: 115,774,969 (GRCm39) I175R probably damaging Het
Plxnb1 T A 9: 108,938,355 (GRCm39) V1303D possibly damaging Het
Pou2f1 G C 1: 165,722,538 (GRCm39) P349R probably damaging Het
Prmt8 A T 6: 127,688,110 (GRCm39) I236N probably damaging Het
Rexo2 A G 9: 48,384,362 (GRCm39) I139T probably damaging Het
Rsbn1l A C 5: 21,101,106 (GRCm39) S811R probably benign Het
Sec24b T C 3: 129,814,276 (GRCm39) D345G probably benign Het
Serpina1b A G 12: 103,695,531 (GRCm39) S337P probably damaging Het
Sinhcaf A G 6: 148,827,617 (GRCm39) S134P possibly damaging Het
Snx33 T C 9: 56,825,844 (GRCm39) E539G probably benign Het
Sorcs3 A G 19: 48,387,150 (GRCm39) T212A possibly damaging Het
St3gal6 C T 16: 58,305,136 (GRCm39) E109K probably benign Het
Stat4 A G 1: 52,050,955 (GRCm39) N5D probably benign Het
Tmem232 C T 17: 65,689,520 (GRCm39) D532N probably benign Het
Tmem232 C A 17: 65,689,628 (GRCm39) D496Y possibly damaging Het
Tmem81 A G 1: 132,435,809 (GRCm39) N205S probably benign Het
Tomm20l C T 12: 71,158,516 (GRCm39) A58V possibly damaging Het
Ttn A G 2: 76,804,552 (GRCm39) V240A probably benign Het
Vmn2r23 A T 6: 123,718,348 (GRCm39) N567I probably damaging Het
Other mutations in Spa17
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0575:Spa17 UTSW 9 37,514,689 (GRCm39) missense probably damaging 0.99
R5244:Spa17 UTSW 9 37,523,285 (GRCm39) start codon destroyed probably damaging 1.00
R5503:Spa17 UTSW 9 37,523,273 (GRCm39) missense probably damaging 1.00
R6612:Spa17 UTSW 9 37,517,090 (GRCm39) missense probably benign 0.14
R6636:Spa17 UTSW 9 37,523,270 (GRCm39) missense probably benign 0.45
R6637:Spa17 UTSW 9 37,523,270 (GRCm39) missense probably benign 0.45
R7233:Spa17 UTSW 9 37,514,587 (GRCm39) splice site probably null
R8976:Spa17 UTSW 9 37,523,254 (GRCm39) missense possibly damaging 0.93
R9716:Spa17 UTSW 9 37,518,921 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGCTTTCTGCACAATGACC -3'
(R):5'- ACCATATAGGCAATTCTTTCCGAG -3'

Sequencing Primer
(F):5'- CTGCACAATGACCATGATTTTTAATG -3'
(R):5'- TCCGAGGAGATGTCGATTCC -3'
Posted On 2015-03-25