Incidental Mutation 'R5942:Mgmt'
ID 501664
Institutional Source Beutler Lab
Gene Symbol Mgmt
Ensembl Gene ENSMUSG00000054612
Gene Name O-6-methylguanine-DNA methyltransferase
Synonyms AGT, Agat
MMRRC Submission 044134-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5942 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 136496343-136731995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 136723219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 96 (D96E)
Ref Sequence ENSEMBL: ENSMUSP00000080224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081510]
AlphaFold P26187
Predicted Effect probably benign
Transcript: ENSMUST00000081510
AA Change: D96E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000080224
Gene: ENSMUSG00000054612
AA Change: D96E

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
  • 1x: 99.8%
  • 3x: 99.3%
  • 10x: 96.7%
  • 20x: 89.5%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C T 17: 46,623,333 (GRCm39) V860M probably benign Het
Accs A T 2: 93,666,392 (GRCm39) L432M probably damaging Het
Actrt3 T A 3: 30,652,813 (GRCm39) N94Y possibly damaging Het
Adamts18 T C 8: 114,504,380 (GRCm39) Q80R probably benign Het
Ccr8 G T 9: 119,923,772 (GRCm39) V296F probably damaging Het
Cep170 T A 1: 176,583,985 (GRCm39) E798V probably damaging Het
Cttnbp2 T A 6: 18,448,439 (GRCm39) E73D probably damaging Het
Cyp2a4 A T 7: 26,010,129 (GRCm39) probably null Het
Dync2h1 A T 9: 7,117,466 (GRCm39) Y41* probably null Het
Enc1 G A 13: 97,382,887 (GRCm39) D466N probably benign Het
Enpp1 C A 10: 24,551,966 (GRCm39) E138* probably null Het
Entrep1 A G 19: 23,963,834 (GRCm39) V245A probably damaging Het
Ezh2 T C 6: 47,554,516 (GRCm39) R27G possibly damaging Het
Fut10 A G 8: 31,691,485 (GRCm39) N110S possibly damaging Het
Glt1d1 A T 5: 127,721,534 (GRCm39) probably null Het
Gm14393 G A 2: 174,903,689 (GRCm39) Q73* probably null Het
Gpr156 C T 16: 37,825,264 (GRCm39) P494S probably benign Het
Has2 T A 15: 56,531,192 (GRCm39) K508* probably null Het
Hc A T 2: 34,918,137 (GRCm39) C715* probably null Het
Hook2 C T 8: 85,721,409 (GRCm39) probably null Het
Klhdc7b A C 15: 89,271,634 (GRCm39) I839L probably benign Het
Kndc1 T C 7: 139,516,792 (GRCm39) L1584P probably damaging Het
Lamp1 T C 8: 13,223,941 (GRCm39) F358L probably damaging Het
Man2a1 A G 17: 64,932,375 (GRCm39) K154R probably benign Het
Mga A G 2: 119,777,440 (GRCm39) I1871V probably benign Het
Morc2a C A 11: 3,629,936 (GRCm39) T424K probably damaging Het
Myo1g A G 11: 6,464,888 (GRCm39) L462P probably damaging Het
Ncaph C A 2: 126,958,608 (GRCm39) probably null Het
Nlrc3 A T 16: 3,767,293 (GRCm39) D969E probably damaging Het
Nt5c3 A T 6: 56,874,839 (GRCm39) probably null Het
Or4c12b G T 2: 89,646,684 (GRCm39) E5* probably null Het
Or5ac15 A T 16: 58,940,039 (GRCm39) Y131* probably null Het
Or5d41 A C 2: 88,054,916 (GRCm39) I153M probably benign Het
Or8h8 T C 2: 86,753,750 (GRCm39) N42S probably damaging Het
Parp14 C A 16: 35,659,737 (GRCm39) M1628I probably damaging Het
Parp8 G T 13: 117,005,969 (GRCm39) P693Q probably benign Het
Parp9 A G 16: 35,792,259 (GRCm39) D485G possibly damaging Het
Pcdha1 T A 18: 37,063,444 (GRCm39) V36D probably damaging Het
Pcdhb5 C T 18: 37,453,838 (GRCm39) Q73* probably null Het
Pecam1 G T 11: 106,552,809 (GRCm39) probably benign Het
Pex1 A G 5: 3,660,277 (GRCm39) I527V probably benign Het
Phf11 G A 14: 59,497,593 (GRCm39) P13S probably benign Het
Ppp4r4 T A 12: 103,553,706 (GRCm39) V388D possibly damaging Het
Psmc4 C T 7: 27,746,480 (GRCm39) V202I probably damaging Het
Ptx3 T G 3: 66,127,484 (GRCm39) M1R probably null Het
Rimbp3 A G 16: 17,029,752 (GRCm39) T1059A probably benign Het
Rmdn3 G A 2: 118,978,058 (GRCm39) A181V probably damaging Het
Rnase10 A T 14: 51,246,735 (GRCm39) M38L probably benign Het
Sec16b T A 1: 157,358,920 (GRCm39) Y118N probably damaging Het
Sigmar1 T C 4: 41,741,159 (GRCm39) T32A probably benign Het
Srcap A G 7: 127,137,180 (GRCm39) D954G probably damaging Het
Tfrc A G 16: 32,445,533 (GRCm39) N618S possibly damaging Het
Tnrc6a A G 7: 122,785,888 (GRCm39) D1028G probably damaging Het
Tns3 A T 11: 8,385,860 (GRCm39) D1379E probably damaging Het
Ttn A T 2: 76,580,505 (GRCm39) C23463S possibly damaging Het
Ufl1 T C 4: 25,250,619 (GRCm39) T745A probably benign Het
Vmn1r231 T A 17: 21,110,417 (GRCm39) Y166F possibly damaging Het
Wbp1l C A 19: 46,642,869 (GRCm39) T290K probably damaging Het
Wdr25 A G 12: 108,864,392 (GRCm39) N179S probably benign Het
Wdr62 G A 7: 29,942,504 (GRCm39) Q1035* probably null Het
Yif1a C T 19: 5,141,669 (GRCm39) R196C probably damaging Het
Zfp352 A T 4: 90,113,307 (GRCm39) K482N probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Other mutations in Mgmt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01776:Mgmt APN 7 136,723,293 (GRCm39) nonsense probably null
R1239:Mgmt UTSW 7 136,729,786 (GRCm39) missense probably benign 0.00
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'- ACTGTGTGCAAAATGCTCGC -3'
(R):5'- AATGACACTTGGCTCCCTGG -3'

Sequencing Primer
(F):5'- GCCTGCCTGTTCACAGAAAGAG -3'
(R):5'- TGGTTTGAAGCCCTGCGAC -3'
Posted On 2017-12-01