Incidental Mutation 'IGL03257:Gpm6a'
ID 414693
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpm6a
Ensembl Gene ENSMUSG00000031517
Gene Name glycoprotein m6a
Synonyms M6A, Gpm6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # IGL03257
Quality Score
Status
Chromosome 8
Chromosomal Location 55407878-55513906 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55490507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 61 (Y61C)
Ref Sequence ENSEMBL: ENSMUSP00000033915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033915]
AlphaFold P35802
Predicted Effect probably damaging
Transcript: ENSMUST00000033915
AA Change: Y61C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033915
Gene: ENSMUSG00000031517
AA Change: Y61C

DomainStartEndE-ValueType
PLP 157 212 1.28e-31 SMART
low complexity region 213 227 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in increased percentage of total body fat and total body fat mass. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 C A 14: 118,852,623 (GRCm39) V489L probably benign Het
Alpk2 C A 18: 65,482,945 (GRCm39) E354D probably damaging Het
Ank1 A T 8: 23,612,914 (GRCm39) K1060M probably damaging Het
Cand2 A G 6: 115,776,944 (GRCm39) N1111D possibly damaging Het
Ccny A T 18: 9,386,747 (GRCm39) S73T possibly damaging Het
Clps T C 17: 28,779,634 (GRCm39) probably benign Het
Cnga1 C A 5: 72,768,205 (GRCm39) W160C probably damaging Het
Col6a5 T C 9: 105,759,072 (GRCm39) S2045G possibly damaging Het
Dennd4a T G 9: 64,779,156 (GRCm39) N546K possibly damaging Het
Efcab5 A T 11: 77,079,596 (GRCm39) M50K probably damaging Het
Fntb A G 12: 76,934,805 (GRCm39) H228R probably damaging Het
Gm4787 C T 12: 81,424,826 (GRCm39) C444Y probably damaging Het
Grm5 T A 7: 87,252,106 (GRCm39) S119T possibly damaging Het
Igf1r T A 7: 67,864,688 (GRCm39) I1162N probably damaging Het
Irx5 A G 8: 93,087,258 (GRCm39) T397A probably benign Het
Kdm1b C T 13: 47,202,742 (GRCm39) T59M probably damaging Het
Lrrc9 T A 12: 72,496,542 (GRCm39) S57T probably benign Het
Nup210l A T 3: 90,087,455 (GRCm39) probably null Het
Or5p52 T C 7: 107,501,963 (GRCm39) I13T probably benign Het
Or8k27 A T 2: 86,276,234 (GRCm39) F31I probably damaging Het
Prl8a1 A G 13: 27,759,656 (GRCm39) I127T probably damaging Het
Psme1 T C 14: 55,818,086 (GRCm39) I142T probably damaging Het
Ptbp3 A T 4: 59,493,370 (GRCm39) probably benign Het
Rnf20 T A 4: 49,645,687 (GRCm39) N321K probably benign Het
Ttc23 T C 7: 67,361,126 (GRCm39) S340P probably damaging Het
Txnrd1 A T 10: 82,721,105 (GRCm39) K393I probably benign Het
Zfp365 A T 10: 67,724,868 (GRCm39) F340Y possibly damaging Het
Zfp451 C A 1: 33,816,129 (GRCm39) R607L possibly damaging Het
Zfp618 A G 4: 63,050,908 (GRCm39) Y563C probably damaging Het
Other mutations in Gpm6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01957:Gpm6a APN 8 55,503,212 (GRCm39) missense probably benign
IGL02591:Gpm6a APN 8 55,511,954 (GRCm39) missense probably damaging 1.00
F2404:Gpm6a UTSW 8 55,511,917 (GRCm39) missense probably damaging 1.00
R0533:Gpm6a UTSW 8 55,508,409 (GRCm39) critical splice acceptor site probably null
R0827:Gpm6a UTSW 8 55,511,918 (GRCm39) missense probably damaging 1.00
R1193:Gpm6a UTSW 8 55,500,268 (GRCm39) critical splice acceptor site probably null
R1468:Gpm6a UTSW 8 55,490,385 (GRCm39) missense probably damaging 0.98
R1468:Gpm6a UTSW 8 55,490,385 (GRCm39) missense probably damaging 0.98
R1793:Gpm6a UTSW 8 55,507,867 (GRCm39) missense probably benign 0.13
R1879:Gpm6a UTSW 8 55,490,365 (GRCm39) missense probably damaging 1.00
R2157:Gpm6a UTSW 8 55,511,833 (GRCm39) missense probably damaging 0.99
R4306:Gpm6a UTSW 8 55,500,428 (GRCm39) critical splice donor site probably null
R4307:Gpm6a UTSW 8 55,500,428 (GRCm39) critical splice donor site probably null
R4417:Gpm6a UTSW 8 55,503,223 (GRCm39) missense probably damaging 1.00
R6058:Gpm6a UTSW 8 55,511,833 (GRCm39) missense probably damaging 0.99
R6112:Gpm6a UTSW 8 55,507,845 (GRCm39) missense probably benign
R6254:Gpm6a UTSW 8 55,500,431 (GRCm39) splice site probably null
R7065:Gpm6a UTSW 8 55,490,493 (GRCm39) missense probably benign 0.13
R7076:Gpm6a UTSW 8 55,490,486 (GRCm39) missense probably damaging 1.00
R7912:Gpm6a UTSW 8 55,508,469 (GRCm39) missense possibly damaging 0.62
R7955:Gpm6a UTSW 8 55,511,840 (GRCm39) missense probably damaging 1.00
R8758:Gpm6a UTSW 8 55,511,833 (GRCm39) missense probably damaging 0.99
R9687:Gpm6a UTSW 8 55,503,209 (GRCm39) missense possibly damaging 0.95
Posted On 2016-08-02