Incidental Mutation 'IGL00594:Gm382'
ID3095
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 #IGL00594
Quality Score
Status
ChromosomeX
Chromosomal Location127039972-127063986 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 127063152 bp
ZygosityHeterozygous
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

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: 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