Incidental Mutation 'IGL02229:Sva'
ID285409
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sva
Ensembl Gene ENSMUSG00000023289
Gene Nameseminal vesicle antigen
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL02229
Quality Score
Status
Chromosome6
Chromosomal Location42038394-42042851 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 42042222 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
Posted On2015-04-16