Incidental Mutation 'R1239:Mgmt'
ID 151882
Institutional Source Beutler Lab
Gene Symbol Mgmt
Ensembl Gene ENSMUSG00000054612
Gene Name O-6-methylguanine-DNA methyltransferase
Synonyms AGT, Agat
MMRRC Submission 039306-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1239 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 136496343-136731995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 136729786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 200 (F200S)
Ref Sequence ENSEMBL: ENSMUSP00000080224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081510]
AlphaFold P26187
Predicted Effect probably benign
Transcript: ENSMUST00000081510
AA Change: F200S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000080224
Gene: ENSMUSG00000054612
AA Change: F200S

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 98% (44/45)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 C T 19: 4,915,483 (GRCm39) probably benign Het
Adcy8 G T 15: 64,587,911 (GRCm39) R959S probably damaging Het
Ank1 A G 8: 23,586,171 (GRCm39) N455D probably damaging Het
Ankrd17 T C 5: 90,436,535 (GRCm39) T589A probably damaging Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Celsr1 G T 15: 85,863,347 (GRCm39) N1228K probably damaging Het
Ces4a T C 8: 105,876,130 (GRCm39) L557P probably damaging Het
Chd1l C T 3: 97,490,047 (GRCm39) E503K probably benign Het
Clba1 A G 12: 112,773,123 (GRCm39) R39G probably benign Het
Col27a1 T C 4: 63,237,152 (GRCm39) probably benign Het
Cplx2 G T 13: 54,527,415 (GRCm39) A100S probably damaging Het
Cpsf6 G A 10: 117,197,248 (GRCm39) probably benign Het
Cyp1a2 A G 9: 57,589,050 (GRCm39) F255L probably benign Het
Dnajc6 T C 4: 101,492,313 (GRCm39) Y783H probably damaging Het
E230025N22Rik T C 18: 36,818,528 (GRCm39) I434V probably damaging Het
Ermap T C 4: 119,046,122 (GRCm39) K3E probably benign Het
Gatd3a A G 10: 78,004,761 (GRCm39) probably benign Het
Gstm2 G A 3: 107,891,344 (GRCm39) L125F possibly damaging Het
Hk2 C T 6: 82,726,289 (GRCm39) G58R probably damaging Het
Jpt2 T C 17: 25,179,585 (GRCm39) M1V probably null Het
Matcap2 GTTCTTC GTTC 9: 22,335,995 (GRCm39) probably benign Het
Mug2 T G 6: 122,058,637 (GRCm39) probably benign Het
Or2ad1 C T 13: 21,326,337 (GRCm39) V297I probably benign Het
Or5an11 G T 19: 12,246,340 (GRCm39) V249F probably damaging Het
Or5b109 G A 19: 13,212,040 (GRCm39) C142Y possibly damaging Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Phc3 A G 3: 30,968,279 (GRCm39) V886A probably damaging Het
Plcg2 T A 8: 118,282,783 (GRCm39) V88D probably benign Het
Podxl2 C T 6: 88,826,965 (GRCm39) V50I probably benign Het
Rap1gap G T 4: 137,445,307 (GRCm39) M329I probably damaging Het
Rbm5 A G 9: 107,630,165 (GRCm39) probably benign Het
Robo1 A G 16: 72,821,430 (GRCm39) probably null Het
Ryr2 A T 13: 11,897,929 (GRCm39) probably null Het
Skida1 A C 2: 18,052,128 (GRCm39) probably benign Het
Tecta A G 9: 42,243,781 (GRCm39) F2024L probably damaging Het
Trim43a GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT 9: 88,465,042 (GRCm39) probably benign Het
Vmn1r16 C T 6: 57,300,618 (GRCm39) M1I probably null Het
Zbtb39 G T 10: 127,578,938 (GRCm39) G504V probably damaging Het
Zfp1004 T C 2: 150,033,891 (GRCm39) Y71H possibly damaging Het
Zfp106 A T 2: 120,364,075 (GRCm39) N777K probably damaging Het
Other mutations in Mgmt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01776:Mgmt APN 7 136,723,293 (GRCm39) nonsense probably null
R5942:Mgmt UTSW 7 136,723,219 (GRCm39) missense probably benign 0.01
R6952:Mgmt UTSW 7 136,553,064 (GRCm39) missense probably benign 0.03
R7110:Mgmt UTSW 7 136,687,715 (GRCm39) missense probably damaging 1.00
R8911:Mgmt UTSW 7 136,729,794 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTTGCCTGTAGCACAGAAACCTCC -3'
(R):5'- GAGGTGGGTCGTCTGAACTCATTC -3'

Sequencing Primer
(F):5'- GATCCAGACTGACAGCGAC -3'
(R):5'- GTCGTCTGAACTCATTCTGCTG -3'
Posted On 2014-01-29