Incidental Mutation 'IGL02229:Sva'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sva
Ensembl Gene ENSMUSG00000023289
Gene Nameseminal vesicle antigen
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL02229
Quality Score
Chromosomal Location42038394-42042851 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 42042222 bp
Amino Acid Change Cysteine to Serine at position 109 (C109S)
Ref Sequence ENSEMBL: ENSMUSP00000112528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024059] [ENSMUST00000117406]
Predicted Effect probably damaging
Transcript: ENSMUST00000024059
AA Change: C102S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024059
Gene: ENSMUSG00000023289
AA Change: C102S

Pfam:SVA 3 135 4.3e-47 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117406
AA Change: C109S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112528
Gene: ENSMUSG00000023289
AA Change: C109S

Pfam:SVA 10 142 7.3e-48 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 63,898,353 D144G probably damaging Het
Adgrg1 G T 8: 95,003,511 D114Y probably damaging Het
Ago4 T A 4: 126,511,532 N416I probably benign Het
Aoc1 C T 6: 48,905,909 Q240* probably null Het
Atl1 G A 12: 69,926,025 V40I probably benign Het
Cdh2 T C 18: 16,624,753 I591V probably benign Het
Cic C A 7: 25,290,950 Q1959K probably damaging Het
Cmya5 C T 13: 93,092,686 E1965K possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cspp1 T C 1: 10,083,556 S397P probably damaging Het
D130043K22Rik T C 13: 24,875,924 Y593H probably damaging Het
Dck A G 5: 88,774,105 Y142C probably damaging Het
Eea1 A T 10: 96,018,184 E568V probably damaging Het
Gabra3 A G X: 72,501,077 probably null Het
Gucy2f A G X: 142,179,988 S342P probably benign Het
Hbb-bh1 T A 7: 103,842,825 I61F possibly damaging Het
Hook1 T C 4: 96,001,251 S235P possibly damaging Het
Hoxd12 G A 2: 74,675,934 R230H probably damaging Het
Iglc2 C T 16: 19,198,733 A41T probably benign Het
Il1r1 A G 1: 40,313,358 K566E probably damaging Het
Kcns3 A T 12: 11,092,092 M202K probably damaging Het
Krt7 C A 15: 101,427,616 A442D probably benign Het
Ltk C T 2: 119,758,573 R200H probably benign Het
Macf1 G T 4: 123,509,826 D582E probably damaging Het
Mbnl3 A T X: 51,139,341 Y69N probably damaging Het
Mpp1 T C X: 75,121,428 probably benign Het
Myo18b A G 5: 112,878,110 S25P unknown Het
Nsd3 A G 8: 25,710,748 N1289S probably damaging Het
Olfr26 T A 9: 38,855,416 M118K possibly damaging Het
Pacs2 A G 12: 113,056,800 probably benign Het
Rab3gap2 A G 1: 185,259,383 K689E possibly damaging Het
Taf3 T C 2: 9,952,834 N174S probably damaging Het
Tbc1d5 A T 17: 50,852,600 M393K probably damaging Het
Tmem242 A T 17: 5,411,407 S129T probably benign Het
Ttn A T 2: 76,871,169 probably benign Het
Other mutations in Sva
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01923:Sva APN 6 42042170 missense probably benign 0.03
IGL02800:Sva APN 6 42040135 missense unknown
R2223:Sva UTSW 6 42038423 start codon destroyed probably null 0.86
R2926:Sva UTSW 6 42042662 missense possibly damaging 0.91
R4593:Sva UTSW 6 42042658 missense possibly damaging 0.93
R5069:Sva UTSW 6 42038417 utr 5 prime probably benign
R5150:Sva UTSW 6 42042159 missense probably benign 0.03
R6044:Sva UTSW 6 42040100 missense probably benign 0.09
R7545:Sva UTSW 6 42042214 missense probably benign 0.07
R7627:Sva UTSW 6 42042664 missense unknown
R8745:Sva UTSW 6 42038423 start codon destroyed probably null 0.86
R8772:Sva UTSW 6 42038509 missense probably benign 0.39
Posted On2015-04-16