Incidental Mutation 'IGL00693:Vsig8'
ID14822
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vsig8
Ensembl Gene ENSMUSG00000049598
Gene NameV-set and immunoglobulin domain containing 8
SynonymsEG240916
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00693
Quality Score
Status
Chromosome1
Chromosomal Location172555938-172563717 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 172561589 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 136 (V136A)
Ref Sequence ENSEMBL: ENSMUSP00000134997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061835] [ENSMUST00000177086]
Predicted Effect probably damaging
Transcript: ENSMUST00000061835
AA Change: V248A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000058008
Gene: ENSMUSG00000049598
AA Change: V248A

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 probably damaging
Transcript: ENSMUST00000177086
AA Change: V136A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134997
Gene: ENSMUSG00000049598
AA Change: V136A

DomainStartEndE-ValueType
Blast:IG_like 1 30 5e-11 BLAST
IGc2 45 133 3.3e-4 SMART
transmembrane domain 152 174 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 37,052,547 probably benign Het
Aldh1a7 G A 19: 20,700,046 P404S probably damaging Het
Armc4 C T 18: 7,211,504 G790D probably damaging Het
Ccng1 A G 11: 40,754,058 V4A probably benign Het
Col4a3 T C 1: 82,697,754 Y1176H unknown Het
Dyrk3 T C 1: 131,136,337 I3V possibly damaging Het
Gm13101 G T 4: 143,965,822 P203Q possibly damaging Het
Gpsm3 A G 17: 34,591,273 E149G probably damaging Het
Hsd3b6 A C 3: 98,806,278 L235R probably damaging Het
Ipo11 A T 13: 106,897,260 F238Y probably damaging Het
Kcnh7 C T 2: 62,734,254 R887K probably benign Het
Lrrc8a T C 2: 30,255,315 V47A probably benign Het
Lsm14b A G 2: 180,032,626 N241D probably damaging Het
Mtss1 T A 15: 58,944,124 D529V probably damaging Het
Nupl1 A T 14: 60,238,520 S283T probably benign Het
Pno1 A G 11: 17,211,317 L64P probably benign Het
Proc A G 18: 32,123,513 V367A probably benign Het
Sez6l A T 5: 112,422,013 I964N probably damaging Het
Speer2 A T 16: 69,860,518 M79K probably benign Het
Tef T C 15: 81,815,183 S131P probably benign Het
Ubr2 T C 17: 46,972,981 T581A probably benign Het
Unc13c A T 9: 73,758,602 D1045E probably benign Het
Wee1 A T 7: 110,134,853 probably null Het
Other mutations in Vsig8
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On2012-12-06