Incidental Mutation 'IGL02140:Gm13283'
ID 281497
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm13283
Ensembl Gene ENSMUSG00000100505
Gene Name predicted gene 13283
Synonyms EG545645
Accession Numbers
Essential gene? Not available question?
Stock # IGL02140
Quality Score
Status
Chromosome 4
Chromosomal Location 88679011-88679821 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 88679272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 88 (V88I)
Ref Sequence ENSEMBL: ENSMUSP00000139768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000191112]
AlphaFold A0A087WPG5
Predicted Effect noncoding transcript
Transcript: ENSMUST00000097987
Predicted Effect noncoding transcript
Transcript: ENSMUST00000097988
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117750
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121020
Predicted Effect probably benign
Transcript: ENSMUST00000191112
AA Change: V88I

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000139768
Gene: ENSMUSG00000100505
AA Change: V88I

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IFabd 58 170 1.65e-11 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G A 12: 71,195,034 (GRCm39) V144I probably benign Het
B3gat1 A G 9: 26,669,043 (GRCm39) K325E possibly damaging Het
Cd36 T A 5: 18,033,766 (GRCm39) probably benign Het
Ces3a A G 8: 105,782,263 (GRCm39) E325G probably benign Het
Col1a2 G A 6: 4,515,639 (GRCm39) G136D unknown Het
Cyp3a25 T G 5: 145,946,273 (GRCm39) probably benign Het
Cyp3a59 T C 5: 146,039,690 (GRCm39) L321P probably damaging Het
Dag1 A G 9: 108,095,391 (GRCm39) S34P probably damaging Het
Defa27 A T 8: 21,805,674 (GRCm39) K13* probably null Het
Disp2 T C 2: 118,621,350 (GRCm39) F694S probably benign Het
Dnah12 G T 14: 26,437,732 (GRCm39) A454S probably benign Het
Dync2h1 A T 9: 7,147,791 (GRCm39) D946E probably benign Het
Fcgbp A G 7: 27,791,379 (GRCm39) E880G probably damaging Het
Fgfr4 T C 13: 55,308,992 (GRCm39) V371A probably benign Het
Frem3 G T 8: 81,340,736 (GRCm39) V1010F possibly damaging Het
Gm5134 G A 10: 75,821,945 (GRCm39) V260I probably benign Het
Grhl2 A G 15: 37,270,830 (GRCm39) probably benign Het
Hectd1 A T 12: 51,820,920 (GRCm39) W1090R probably damaging Het
Hydin G A 8: 111,293,570 (GRCm39) V3506I probably benign Het
Igkc C T 6: 70,703,559 (GRCm39) R47* probably null Het
Iglv3 T A 16: 19,060,160 (GRCm39) Q56L probably damaging Het
Impg2 T A 16: 56,079,831 (GRCm39) M436K probably benign Het
Kcnma1 T A 14: 23,359,113 (GRCm39) K1110N probably damaging Het
Marf1 T C 16: 13,959,776 (GRCm39) E694G probably damaging Het
Nup37 A C 10: 87,994,791 (GRCm39) K118T probably benign Het
Or10al7 A G 17: 38,366,481 (GRCm39) M1T probably null Het
Or4a73 T C 2: 89,420,586 (GRCm39) E291G probably damaging Het
P3h1 A G 4: 119,095,062 (GRCm39) D273G probably damaging Het
Pcsk9 T C 4: 106,311,843 (GRCm39) D178G probably benign Het
Phyhipl T C 10: 70,406,660 (GRCm39) K53R probably damaging Het
Pkp3 T G 7: 140,669,249 (GRCm39) L697R probably damaging Het
Rab11fip3 A G 17: 26,286,866 (GRCm39) V429A probably benign Het
Rgl2 A G 17: 34,152,098 (GRCm39) N295S probably damaging Het
Spag5 A T 11: 78,206,459 (GRCm39) D817V possibly damaging Het
Tas2r117 C A 6: 132,780,558 (GRCm39) T232K probably benign Het
Thumpd1 A G 7: 119,316,232 (GRCm39) V239A possibly damaging Het
Timd4 T A 11: 46,710,841 (GRCm39) S248T possibly damaging Het
Tmem207 A T 16: 26,335,490 (GRCm39) N82K probably benign Het
Ttn T A 2: 76,538,557 (GRCm39) T34714S possibly damaging Het
Vmn1r194 G A 13: 22,428,706 (GRCm39) V108I probably benign Het
Vmn2r24 T A 6: 123,757,631 (GRCm39) S166R probably damaging Het
Vmn2r32 A G 7: 7,479,696 (GRCm39) F159S probably damaging Het
Wdr72 A T 9: 74,117,505 (GRCm39) Q739L probably benign Het
Other mutations in Gm13283
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7215:Gm13283 UTSW 4 88,678,967 (GRCm39) start gained probably benign
R8931:Gm13283 UTSW 4 88,679,516 (GRCm39) missense probably benign 0.01
R8945:Gm13283 UTSW 4 88,679,123 (GRCm39) missense probably benign 0.03
R9337:Gm13283 UTSW 4 88,679,036 (GRCm39) missense possibly damaging 0.72
Posted On 2015-04-16