Incidental Mutation 'R0042:Vsig8'
ID15748
Institutional Source Beutler Lab
Gene Symbol Vsig8
Ensembl Gene ENSMUSG00000049598
Gene NameV-set and immunoglobulin domain containing 8
SynonymsEG240916
MMRRC Submission 038336-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0042 (G1)
Quality Score
Status Validated
Chromosome1
Chromosomal Location172555938-172563717 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 172560358 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 5 (V5A)
Ref Sequence ENSEMBL: ENSMUSP00000134997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061835] [ENSMUST00000177086]
Predicted Effect possibly damaging
Transcript: ENSMUST00000061835
AA Change: V117A

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000058008
Gene: ENSMUSG00000049598
AA Change: V117A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IG 29 142 1.22e-7 SMART
IGc2 157 245 3.3e-4 SMART
transmembrane domain 264 286 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169111
Predicted Effect possibly damaging
Transcript: ENSMUST00000177086
AA Change: V5A

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000134997
Gene: ENSMUSG00000049598
AA Change: V5A

DomainStartEndE-ValueType
Blast:IG_like 1 30 5e-11 BLAST
IGc2 45 133 3.3e-4 SMART
transmembrane domain 152 174 N/A INTRINSIC
Meta Mutation Damage Score 0.0796 question?
Coding Region Coverage
  • 1x: 81.9%
  • 3x: 73.7%
  • 10x: 53.7%
  • 20x: 34.5%
Validation Efficiency 94% (58/62)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930017K11Rik C A 17: 25,947,982 E194* probably null Het
Abca1 C T 4: 53,059,245 probably benign Het
Adgrf3 A G 5: 30,197,428 L534P probably damaging Het
Ank2 T C 3: 126,936,631 D3568G probably damaging Het
Atr T A 9: 95,927,356 probably benign Het
Ccnb2 A G 9: 70,419,053 V34A probably benign Het
Dmxl1 C A 18: 49,864,035 T466K probably benign Het
Eya1 T C 1: 14,184,489 D373G probably damaging Het
Fam120a A G 13: 48,934,014 V290A probably damaging Het
Gpr179 C T 11: 97,334,931 V2133I probably benign Het
Grb10 G T 11: 11,936,798 H435Q probably damaging Het
Gzmm T C 10: 79,694,565 I190T probably benign Het
H2-Q3 A G 17: 35,359,847 noncoding transcript Het
Hspb7 A G 4: 141,423,934 E129G probably damaging Het
Il17ra T C 6: 120,472,125 probably benign Het
Itgb3 A G 11: 104,667,140 T787A possibly damaging Het
Krt4 T G 15: 101,922,752 probably benign Het
Lgsn C T 1: 31,190,453 T85I probably benign Het
Metap1 C T 3: 138,472,157 V217I probably benign Het
Mib2 A T 4: 155,659,440 C48* probably null Het
Mroh4 T A 15: 74,610,305 I768F probably damaging Het
Npas3 T A 12: 54,048,841 D361E probably damaging Het
P4hb G A 11: 120,568,266 R134C probably damaging Het
Rbl1 A G 2: 157,175,704 probably benign Het
Rdh10 T A 1: 16,108,036 probably benign Het
Spata31 A T 13: 64,922,563 I842L probably benign Het
Stk32b A C 5: 37,716,748 D13E probably benign Het
Svep1 T C 4: 58,123,192 D708G possibly damaging Het
Taar6 T C 10: 23,985,123 D175G probably benign Het
Tmod4 T C 3: 95,129,788 D164G possibly damaging Het
Ttc23l A C 15: 10,551,541 L33W probably damaging Het
Ttc39d T C 17: 80,215,950 Y13H probably benign Het
Utp18 G T 11: 93,875,858 T309K probably damaging Het
Vps11 G T 9: 44,356,291 Y341* probably null Het
Other mutations in Vsig8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00693:Vsig8 APN 1 172561589 missense probably damaging 0.98
IGL02413:Vsig8 APN 1 172560376 missense probably damaging 1.00
IGL03172:Vsig8 APN 1 172560349 missense probably damaging 1.00
R0042:Vsig8 UTSW 1 172560358 missense possibly damaging 0.76
R0280:Vsig8 UTSW 1 172561538 missense probably benign 0.00
R1615:Vsig8 UTSW 1 172559713 missense probably damaging 1.00
R2078:Vsig8 UTSW 1 172563289 missense probably benign 0.24
R4425:Vsig8 UTSW 1 172563147 missense probably damaging 1.00
R4547:Vsig8 UTSW 1 172560596 missense probably benign 0.01
R4822:Vsig8 UTSW 1 172559638 missense probably damaging 1.00
R4890:Vsig8 UTSW 1 172561575 missense probably benign 0.00
R5323:Vsig8 UTSW 1 172560677 missense probably benign 0.39
R5430:Vsig8 UTSW 1 172559629 missense probably damaging 1.00
R6527:Vsig8 UTSW 1 172560358 missense possibly damaging 0.76
R6766:Vsig8 UTSW 1 172560576 missense probably benign 0.00
R7276:Vsig8 UTSW 1 172563283 nonsense probably null
X0062:Vsig8 UTSW 1 172560258 missense possibly damaging 0.61
Z1177:Vsig8 UTSW 1 172563150 missense probably damaging 1.00
Posted On2012-12-21