Incidental Mutation 'IGL00594: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 #IGL00594
Quality Score
Chromosomal Location127039972-127063986 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 127063152 bp
Amino Acid Change Tyrosine to Histidine at position 987 (Y987H)
Ref Sequence ENSEMBL: ENSMUSP00000094056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096332]
Predicted Effect probably benign
Transcript: ENSMUST00000096332
AA Change: Y987H

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000094056
Gene: ENSMUSG00000062791
AA Change: Y987H

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 193,174,801 T154A probably benign Het
Acox1 A G 11: 116,174,505 probably benign Het
Adgrg2 G A X: 160,485,777 V677I probably benign Het
Aifm1 T C X: 48,482,099 T386A probably benign Het
Aspm T C 1: 139,487,422 probably benign Het
Fgfr2 A G 7: 130,228,723 V175A probably damaging Het
Gm14781 C T X: 91,635,485 Q348* probably null Het
Golga3 A T 5: 110,204,975 M911L probably benign Het
Hmgxb3 A G 18: 61,157,739 V354A probably benign Het
Ifne T C 4: 88,879,804 N126D probably benign Het
Igkv3-7 T C 6: 70,607,823 V49A possibly damaging Het
Kbtbd8 A T 6: 95,126,513 Y381F probably damaging Het
Klc1 C T 12: 111,776,884 T215M probably damaging Het
Lrp2 A T 2: 69,486,280 V2119E probably benign Het
Lrrc7 A G 3: 158,187,010 V322A probably benign Het
Ms4a14 A G 19: 11,301,619 S1192P possibly damaging Het
Ndufaf6 T C 4: 11,062,127 Y168C probably damaging Het
Plcg2 C T 8: 117,556,071 T97I possibly damaging Het
Rasgrp4 T C 7: 29,148,541 probably benign Het
Rgs22 T C 15: 36,083,631 H515R probably benign Het
Rpn1 G T 6: 88,095,629 R318L probably damaging Het
Shroom2 A T X: 152,613,516 F1359Y probably damaging Het
Tarsl2 T A 7: 65,676,132 probably null Het
Tbc1d12 A G 19: 38,896,043 E346G possibly damaging Het
Tbccd1 A G 16: 22,822,544 F361S possibly damaging Het
Tenm1 G T X: 42,715,036 P837T probably benign Het
Tmem144 A G 3: 79,839,167 V27A probably benign Het
Zfp616 T A 11: 74,082,963 N19K possibly damaging Het
Zkscan7 T C 9: 122,895,594 Y543H possibly damaging Het
Other mutations in Gm382
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00534:Gm382 APN X 127063615 missense probably damaging 1.00
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