Incidental Mutation 'IGL01776:Mgmt'
ID153870
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mgmt
Ensembl Gene ENSMUSG00000054612
Gene NameO-6-methylguanine-DNA methyltransferase
SynonymsAGT, Agat
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01776
Quality Score
Status
Chromosome7
Chromosomal Location136894614-137130266 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 137121564 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 121 (L121*)
Ref Sequence ENSEMBL: ENSMUSP00000080224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081510]
Predicted Effect probably null
Transcript: ENSMUST00000081510
AA Change: L121*
SMART Domains Protein: ENSMUSP00000080224
Gene: ENSMUSG00000054612
AA Change: L121*

DomainStartEndE-ValueType
Pfam:Methyltransf_1N 6 94 1.1e-21 PFAM
Pfam:DNA_binding_1 97 179 8.2e-29 PFAM
low complexity region 198 208 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alkylating agents are potent carcinogens that can result in cell death, mutation and cancer. The protein encoded by this gene is a DNA repair protein that is involved in cellular defense against mutagenesis and toxicity from alkylating agents. The protein catalyzes transfer of methyl groups from O(6)-alkylguanine and other methylated moieties of the DNA to its own molecule, which repairs the toxic lesions. Methylation of the genes promoter has been associated with several cancer types, including colorectal cancer, lung cancer, lymphoma and glioblastoma. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for targeted knock-out mutations of this gene display increased sensitivity to various alkylating agents. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd17 G A 5: 90,283,364 Q854* probably null Het
Armc8 A G 9: 99,526,883 probably benign Het
Chrna7 A G 7: 63,099,519 V405A probably benign Het
Col8a2 C A 4: 126,309,805 probably benign Het
Dcn A G 10: 97,495,076 I91V possibly damaging Het
Dock7 T A 4: 98,940,941 R2069S possibly damaging Het
Gm7247 A G 14: 51,521,899 S112G possibly damaging Het
Hmcn1 T G 1: 150,672,038 T2721P possibly damaging Het
Hsd3b3 T C 3: 98,743,847 T96A probably benign Het
Ifi207 G A 1: 173,725,044 L936F probably damaging Het
Kcp G A 6: 29,497,908 P477S probably damaging Het
Mei1 T C 15: 82,095,932 probably null Het
Mrps35 G A 6: 147,070,716 V286I probably benign Het
Naxd T C 8: 11,505,525 probably null Het
Pam A G 1: 97,885,600 probably null Het
Plcxd1 G A 5: 110,101,380 probably benign Het
Rasgrp1 A G 2: 117,286,840 probably null Het
Spag9 C T 11: 94,116,727 probably benign Het
Spire2 T C 8: 123,359,392 S288P probably damaging Het
Stk11ip T C 1: 75,527,821 V322A probably benign Het
Syt17 A C 7: 118,409,953 L343R probably damaging Het
Tap1 G A 17: 34,193,128 V436I possibly damaging Het
Virma C T 4: 11,527,792 R1228C probably damaging Het
Other mutations in Mgmt
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1239:Mgmt UTSW 7 137128057 missense probably benign 0.00
R5942:Mgmt UTSW 7 137121490 missense probably benign 0.01
R6952:Mgmt UTSW 7 136951335 missense probably benign 0.03
R7110:Mgmt UTSW 7 137085986 missense probably damaging 1.00
Posted On2014-02-04