Incidental Mutation 'IGL00534:Gm382'
ID3094
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm382
Ensembl Gene ENSMUSG00000062791
Gene Namepredicted gene 382
SynonymsLOC211208
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL00534
Quality Score
Status
ChromosomeX
Chromosomal Location127039972-127063986 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 127063615 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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