Incidental Mutation 'IGL00485:Gm13119'
ID6531
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm13119
Ensembl Gene ENSMUSG00000070619
Gene Namepredicted gene 13119
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00485
Quality Score
Status
Chromosome4
Chromosomal Location144357942-144364419 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 144363442 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 351 (V351I)
Ref Sequence ENSEMBL: ENSMUSP00000092103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094526]
Predicted Effect probably damaging
Transcript: ENSMUST00000094526
AA Change: V351I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092103
Gene: ENSMUSG00000070619
AA Change: V351I

DomainStartEndE-ValueType
SCOP:d1a4ya_ 210 414 3e-10 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap23 G A 11: 97,492,671 probably benign Het
Arhgef37 G A 18: 61,523,871 T41I probably damaging Het
BC030867 C T 11: 102,255,957 S353F possibly damaging Het
Brms1 A C 19: 5,049,042 probably benign Het
Cdkn1a C A 17: 29,098,520 A38E possibly damaging Het
Col4a2 A G 8: 11,439,012 M1133V probably benign Het
Ctps T C 4: 120,552,944 Y314C probably damaging Het
Defa30 T A 8: 21,135,451 M77K probably benign Het
E330017A01Rik A G 16: 58,635,491 Y140H probably damaging Het
Eif3a T C 19: 60,769,890 R817G unknown Het
Fam189a2 G A 19: 23,984,722 R306W probably damaging Het
Greb1l A G 18: 10,555,962 S1725G possibly damaging Het
Hmgxb4 T C 8: 75,029,503 S545P probably damaging Het
Kif13b A G 14: 64,765,073 E1049G possibly damaging Het
Mug1 T C 6: 121,887,416 V1424A probably benign Het
Nlrp2 A G 7: 5,337,548 V89A probably benign Het
Osbpl11 T G 16: 33,241,745 W741G probably damaging Het
Pam A G 1: 97,822,953 V914A possibly damaging Het
Phldb2 T A 16: 45,757,188 I1117F possibly damaging Het
Pign A T 1: 105,597,723 L460* probably null Het
Prdm10 A T 9: 31,327,546 I196F possibly damaging Het
Stk36 T C 1: 74,634,085 S1044P probably benign Het
Trim43b T C 9: 89,091,642 T13A probably benign Het
Unc5b T C 10: 60,783,216 Y49C possibly damaging Het
Urb2 T C 8: 124,028,694 I380T probably damaging Het
Zfyve27 T A 19: 42,183,433 C229S probably benign Het
Other mutations in Gm13119
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Gm13119 APN 4 144362530 missense possibly damaging 0.91
IGL01025:Gm13119 APN 4 144363377 missense probably damaging 1.00
IGL01102:Gm13119 APN 4 144363625 missense probably benign 0.08
IGL01631:Gm13119 APN 4 144362445 missense probably benign 0.12
IGL02228:Gm13119 APN 4 144362661 missense probably damaging 1.00
IGL02708:Gm13119 APN 4 144363413 missense probably damaging 1.00
IGL02827:Gm13119 APN 4 144363761 missense probably damaging 1.00
IGL03398:Gm13119 APN 4 144363491 missense probably damaging 1.00
R0403:Gm13119 UTSW 4 144362646 missense probably benign 0.00
R0627:Gm13119 UTSW 4 144362846 missense probably benign 0.03
R0632:Gm13119 UTSW 4 144363782 missense probably damaging 1.00
R1783:Gm13119 UTSW 4 144361725 missense probably benign 0.01
R1895:Gm13119 UTSW 4 144361865 missense probably benign 0.11
R1946:Gm13119 UTSW 4 144361865 missense probably benign 0.11
R2263:Gm13119 UTSW 4 144363541 missense probably benign 0.00
R2389:Gm13119 UTSW 4 144363413 missense probably damaging 1.00
R2435:Gm13119 UTSW 4 144362903 missense possibly damaging 0.75
R3013:Gm13119 UTSW 4 144362455 missense probably damaging 0.98
R3021:Gm13119 UTSW 4 144361799 missense probably damaging 0.99
R3106:Gm13119 UTSW 4 144361676 missense probably benign 0.04
R5237:Gm13119 UTSW 4 144362471 nonsense probably null
R5411:Gm13119 UTSW 4 144361637 start codon destroyed probably null 1.00
R5532:Gm13119 UTSW 4 144363491 missense probably damaging 1.00
R6229:Gm13119 UTSW 4 144363629 missense probably benign 0.03
R6277:Gm13119 UTSW 4 144363653 missense probably damaging 1.00
R6625:Gm13119 UTSW 4 144363799 missense probably damaging 1.00
R6717:Gm13119 UTSW 4 144362657 missense probably benign 0.00
R7103:Gm13119 UTSW 4 144363727 missense probably benign 0.00
R7207:Gm13119 UTSW 4 144361903 missense probably benign 0.08
Z1177:Gm13119 UTSW 4 144362973 missense possibly damaging 0.89
Posted On2012-04-20