Incidental Mutation 'IGL00534:Gm382'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm382
Ensembl Gene ENSMUSG00000062791
Gene Namepredicted gene 382
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL00534
Quality Score
Chromosomal Location127039972-127063986 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 127063615 bp
Amino Acid Change Tyrosine to Cysteine at position 1141 (Y1141C)
Ref Sequence ENSEMBL: ENSMUSP00000094056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096332]
Predicted Effect probably damaging
Transcript: ENSMUST00000096332
AA Change: Y1141C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000094056
Gene: ENSMUSG00000062791
AA Change: Y1141C

KH 351 416 4.04e-3 SMART
KH 421 489 2.98e-1 SMART
KH 493 562 2.26e-6 SMART
KH 567 635 1.55e-13 SMART
KH 639 708 1.12e-1 SMART
KH 713 782 7.82e-10 SMART
KH 786 855 1.73e-2 SMART
KH 859 957 1.28e-5 SMART
KH 958 1024 9.48e-9 SMART
KH 1036 1106 1.18e-4 SMART
KH 1110 1178 6.11e-12 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arsj G T 3: 126,364,945 A58S probably benign Het
Dchs1 A T 7: 105,757,943 S2148T probably benign Het
Esd T C 14: 74,738,461 V34A probably damaging Het
Esyt1 A G 10: 128,515,684 probably null Het
Glce G A 9: 62,060,483 T462M probably damaging Het
Gm8909 A T 17: 36,168,129 I76N probably damaging Het
Hsd3b1 T C 3: 98,853,246 E143G probably damaging Het
Igf2r T C 17: 12,739,328 T153A probably damaging Het
Irs1 A G 1: 82,288,471 S675P probably benign Het
Lars A T 18: 42,229,654 H573Q probably damaging Het
Lman2 T C 13: 55,351,242 E237G possibly damaging Het
Map2k4 C A 11: 65,719,479 probably benign Het
Pde6b T C 5: 108,426,571 probably benign Het
Pomgnt1 T C 4: 116,152,761 L136P probably damaging Het
Ralgapb T A 2: 158,430,500 M158K possibly damaging Het
Serpina3n A G 12: 104,412,345 E308G probably benign Het
Sgo2a T A 1: 58,016,344 N562K probably damaging Het
Sipa1l2 T C 8: 125,491,806 Y264C probably damaging Het
Snx27 G A 3: 94,561,972 H21Y probably damaging Het
Other mutations in Gm382
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00594:Gm382 APN X 127063152 missense probably benign 0.32
IGL00768:Gm382 APN X 127060743 nonsense probably null
IGL03193:Gm382 APN X 127063698 missense probably damaging 1.00
IGL03285:Gm382 APN X 127061695 missense possibly damaging 0.93
R2128:Gm382 UTSW X 127062651 missense possibly damaging 0.81
R4391:Gm382 UTSW X 127061319 missense probably benign 0.08
X0026:Gm382 UTSW X 127062147 missense probably benign 0.02
Posted On2012-04-20