Incidental Mutation 'IGL01876:Svs1'
ID178910
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Svs1
Ensembl Gene ENSMUSG00000039215
Gene Nameseminal vesicle secretory protein 1
SynonymsSVS I
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.043) question?
Stock #IGL01876
Quality Score
Status
Chromosome6
Chromosomal Location48986861-48991722 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 48990036 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 639 (R639S)
Ref Sequence ENSEMBL: ENSMUSP00000045221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037696]
Predicted Effect possibly damaging
Transcript: ENSMUST00000037696
AA Change: R639S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000045221
Gene: ENSMUSG00000039215
AA Change: R639S

DomainStartEndE-ValueType
Pfam:Cu_amine_oxidN2 44 130 1.5e-24 PFAM
Pfam:Cu_amine_oxidN3 146 246 2.7e-16 PFAM
internal_repeat_1 286 342 7.28e-22 PROSPERO
Pfam:Cu_amine_oxid 408 811 2e-92 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203494
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik T C 13: 63,190,522 S570P probably damaging Het
Ap3b2 T A 7: 81,473,854 probably null Het
Api5 A G 2: 94,418,954 probably benign Het
Arhgap1 A G 2: 91,650,219 probably null Het
BC003331 G T 1: 150,382,338 T182N probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
C330027C09Rik T C 16: 49,001,678 V223A probably damaging Het
Cldn6 G T 17: 23,681,184 V41F probably damaging Het
Dctn1 G T 6: 83,197,921 V1032L probably damaging Het
Eef2 T A 10: 81,180,270 F488L probably benign Het
Fars2 A G 13: 36,537,311 T410A probably benign Het
Hnrnpc T C 14: 52,081,873 N91S probably null Het
Magel2 T C 7: 62,378,827 V493A possibly damaging Het
Olfr1222 A T 2: 89,125,737 probably null Het
Olfr199 A G 16: 59,216,019 V198A possibly damaging Het
Pcnx2 G T 8: 125,866,031 S731R probably benign Het
Plekhm1 A G 11: 103,376,751 L798P probably damaging Het
Prkd1 T C 12: 50,366,348 E680G probably damaging Het
Rabggta T C 14: 55,718,671 T140A probably damaging Het
Slc2a1 G A 4: 119,133,378 D236N probably benign Het
Sptlc1 C A 13: 53,374,012 V39F probably benign Het
Vmn1r6 A G 6: 57,002,461 K36R probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdpcp T A 11: 21,813,383 D581E possibly damaging Het
Other mutations in Svs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Svs1 APN 6 48987739 missense probably damaging 0.98
IGL01934:Svs1 APN 6 48988761 missense probably damaging 0.97
IGL03002:Svs1 APN 6 48987118 missense probably benign 0.01
IGL03059:Svs1 APN 6 48987415 missense probably benign 0.13
IGL03213:Svs1 APN 6 48988345 missense possibly damaging 0.92
IGL03249:Svs1 APN 6 48988369 missense probably benign
IGL03365:Svs1 APN 6 48988597 missense probably damaging 0.97
PIT4280001:Svs1 UTSW 6 48987120 missense probably benign 0.01
PIT4495001:Svs1 UTSW 6 48987776 missense possibly damaging 0.92
R0010:Svs1 UTSW 6 48988906 missense probably damaging 0.99
R0528:Svs1 UTSW 6 48988031 missense probably benign
R0784:Svs1 UTSW 6 48987301 missense possibly damaging 0.78
R0959:Svs1 UTSW 6 48988632 missense possibly damaging 0.89
R1173:Svs1 UTSW 6 48990239 missense probably damaging 1.00
R1174:Svs1 UTSW 6 48990239 missense probably damaging 1.00
R1175:Svs1 UTSW 6 48990239 missense probably damaging 1.00
R1940:Svs1 UTSW 6 48990073 nonsense probably null
R3115:Svs1 UTSW 6 48987397 missense probably damaging 0.99
R3116:Svs1 UTSW 6 48987397 missense probably damaging 0.99
R3808:Svs1 UTSW 6 48987994 missense possibly damaging 0.93
R3809:Svs1 UTSW 6 48987994 missense possibly damaging 0.93
R3852:Svs1 UTSW 6 48987994 missense possibly damaging 0.93
R4455:Svs1 UTSW 6 48987460 missense possibly damaging 0.56
R4898:Svs1 UTSW 6 48987717 missense possibly damaging 0.95
R4933:Svs1 UTSW 6 48987492 missense probably damaging 1.00
R5108:Svs1 UTSW 6 48988570 missense probably damaging 0.97
R5320:Svs1 UTSW 6 48987575 missense probably benign 0.02
R6053:Svs1 UTSW 6 48988488 missense probably benign 0.42
R6728:Svs1 UTSW 6 48988845 missense possibly damaging 0.86
R6922:Svs1 UTSW 6 48987574 missense probably damaging 0.99
R7045:Svs1 UTSW 6 48988612 missense possibly damaging 0.81
R7046:Svs1 UTSW 6 48987578 missense probably benign 0.11
R7137:Svs1 UTSW 6 48990149 missense probably damaging 1.00
X0022:Svs1 UTSW 6 48988339 missense probably damaging 1.00
Posted On2014-05-07