Incidental Mutation 'R1173:Svs1'
ID99686
Institutional Source Beutler Lab
Gene Symbol Svs1
Ensembl Gene ENSMUSG00000039215
Gene Nameseminal vesicle secretory protein 1
SynonymsSVS I
MMRRC Submission 039246-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock #R1173 (G1)
Quality Score225
Status Validated
Chromosome6
Chromosomal Location48986861-48991722 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 48990239 bp
ZygosityHeterozygous
Amino Acid Change Proline to Histidine at position 707 (P707H)
Ref Sequence ENSEMBL: ENSMUSP00000045221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037696]
Predicted Effect probably damaging
Transcript: ENSMUST00000037696
AA Change: P707H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000045221
Gene: ENSMUSG00000039215
AA Change: P707H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204494
Meta Mutation Damage Score 0.2268 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 87.9%
Validation Efficiency 99% (72/73)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik T A 6: 50,589,141 K118M probably damaging Het
Accsl A T 2: 93,866,244 probably benign Het
Adam30 G A 3: 98,162,906 S685N probably benign Het
Adamts12 T C 15: 11,071,757 V129A probably benign Het
Agxt2 T C 15: 10,373,751 F81S probably damaging Het
Ahnak2 A T 12: 112,785,789 I186N probably damaging Het
Amz1 A T 5: 140,751,936 probably null Het
Anapc5 G A 5: 122,788,418 A619V possibly damaging Het
Bbox1 T C 2: 110,265,611 D336G probably damaging Het
Bivm A G 1: 44,126,782 T131A probably benign Het
Bpi A T 2: 158,267,740 I203F probably benign Het
Cd151 A C 7: 141,470,656 T241P probably damaging Het
Cdh23 G A 10: 60,312,392 probably benign Het
Cdh7 G A 1: 110,061,132 V255I probably benign Het
Cul9 C G 17: 46,522,175 A1326P probably damaging Het
Dclre1b A C 3: 103,803,876 S240A probably benign Het
Ddc A C 11: 11,846,634 probably null Het
Dkk1 T C 19: 30,547,250 R252G probably damaging Het
Dmrtc2 T A 7: 24,874,313 M191K possibly damaging Het
Eml6 A G 11: 29,749,824 S1771P possibly damaging Het
Emx1 T C 6: 85,188,371 probably benign Het
Fah T C 7: 84,601,136 M1V probably null Het
Fmo6 A T 1: 162,926,141 M144K probably damaging Het
Frem1 A G 4: 82,950,352 V1445A probably benign Het
Fsd2 T C 7: 81,559,770 D108G probably benign Het
Gfm2 A G 13: 97,165,200 probably null Het
Ghrhr T A 6: 55,388,269 L416* probably null Het
Glipr1l2 C A 10: 112,083,466 L31I possibly damaging Het
Gm19965 T A 1: 116,820,820 probably benign Het
Gpr149 A G 3: 62,604,467 L37P probably damaging Het
Hoxa9 A G 6: 52,225,713 I131T probably damaging Het
Htra4 T C 8: 25,030,619 D342G possibly damaging Het
Idh1 G T 1: 65,161,160 N348K probably benign Het
Impdh2 T C 9: 108,561,829 F99S probably benign Het
Kank4 T C 4: 98,765,569 Y874C probably damaging Het
Kazn A T 4: 142,159,038 probably benign Het
Kcnq3 T A 15: 66,000,042 T593S probably benign Het
Lamc1 T C 1: 153,247,231 probably benign Het
Magi3 A G 3: 104,061,630 probably null Het
Map3k19 A G 1: 127,823,880 V578A probably benign Het
Meox2 T C 12: 37,109,152 C108R possibly damaging Het
Nlrp9c C A 7: 26,380,435 C722F probably damaging Het
Olfr448 T C 6: 42,897,351 V300A probably benign Het
Pde10a C T 17: 8,920,546 probably benign Het
Ppfia4 A G 1: 134,332,283 probably benign Het
Psg18 T C 7: 18,354,817 M1V probably null Het
Qtrt1 A G 9: 21,412,486 T136A probably benign Het
Retsat T C 6: 72,603,651 probably benign Het
Rxfp2 T C 5: 150,051,556 V210A probably benign Het
Sfswap G A 5: 129,507,143 probably null Het
Slc16a7 A T 10: 125,231,372 L133I possibly damaging Het
Slc30a3 A T 5: 31,086,810 M376K probably damaging Het
Srbd1 C T 17: 86,098,512 C620Y probably null Het
Trip10 T A 17: 57,253,363 L100Q probably damaging Het
Tyrp1 C T 4: 80,844,868 Q331* probably null Het
Vangl2 G T 1: 172,004,786 T501N probably damaging Het
Vdr A T 15: 97,869,333 Y185N probably benign Het
Vmn1r123 C T 7: 21,162,332 P50S probably damaging Het
Vmn1r158 T A 7: 22,790,445 H113L probably benign Het
Vmn2r12 A T 5: 109,092,854 I131N probably benign Het
Vmn2r72 T A 7: 85,751,944 E89V probably damaging Het
Xrcc6 A G 15: 82,031,163 D94G probably damaging Het
Zbtb32 T A 7: 30,591,267 E201V possibly damaging Het
Zfp185 A T X: 72,999,323 E138D possibly damaging Het
Zmynd11 T A 13: 9,689,549 H437L probably damaging Het
Other mutations in Svs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Svs1 APN 6 48987739 missense probably damaging 0.98
IGL01876:Svs1 APN 6 48990036 missense possibly damaging 0.71
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
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
R7267:Svs1 UTSW 6 48988018 small deletion probably benign
R7874:Svs1 UTSW 6 48988666 missense possibly damaging 0.91
R7993:Svs1 UTSW 6 48987608 missense possibly damaging 0.85
R8238:Svs1 UTSW 6 48990041 missense probably damaging 0.96
X0022:Svs1 UTSW 6 48988339 missense probably damaging 1.00
Predicted Primers
Posted On2014-01-15