Incidental Mutation 'R8911:Mgmt'
ID 678623
Institutional Source Beutler Lab
Gene Symbol Mgmt
Ensembl Gene ENSMUSG00000054612
Gene Name O-6-methylguanine-DNA methyltransferase
Synonyms AGT, Agat
MMRRC Submission 068764-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8911 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 136496343-136731995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136729794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 203 (T203A)
Ref Sequence ENSEMBL: ENSMUSP00000080224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081510]
AlphaFold P26187
Predicted Effect probably benign
Transcript: ENSMUST00000081510
AA Change: T203A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000080224
Gene: ENSMUSG00000054612
AA Change: T203A

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (76/76)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,429,234 (GRCm39) I774F probably benign Het
3425401B19Rik A T 14: 32,383,626 (GRCm39) C780S possibly damaging Het
Abca12 T C 1: 71,380,690 (GRCm39) D306G probably benign Het
Adgrl2 T C 3: 148,558,163 (GRCm39) probably benign Het
Agt T C 8: 125,291,184 (GRCm39) Y41C probably benign Het
Alx3 G T 3: 107,511,603 (GRCm39) R204L probably damaging Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Bcl11a C T 11: 24,114,763 (GRCm39) P702L probably damaging Het
Bpifa2 A G 2: 153,851,090 (GRCm39) N17S probably benign Het
Cabcoco1 T C 10: 68,377,584 (GRCm39) D35G probably benign Het
Cd69 T C 6: 129,252,187 (GRCm39) K21R probably benign Het
Cdhr18 T C 14: 13,823,796 (GRCm38) probably null Het
Cntn4 T C 6: 106,330,743 (GRCm39) probably null Het
Cntnap5c A C 17: 58,506,043 (GRCm39) N689T probably damaging Het
Cog5 A G 12: 31,883,238 (GRCm39) Y389C probably damaging Het
Col5a1 T C 2: 27,887,630 (GRCm39) probably null Het
Coro1b G A 19: 4,200,803 (GRCm39) R245Q probably damaging Het
Csmd1 T C 8: 16,748,019 (GRCm39) D244G probably damaging Het
Ctcfl C T 2: 172,937,121 (GRCm39) probably null Het
Dpy19l4 G A 4: 11,317,078 (GRCm39) P40L possibly damaging Het
Dsg4 C A 18: 20,584,929 (GRCm39) Y214* probably null Het
Eapp A T 12: 54,739,440 (GRCm39) probably benign Het
Fmo6 T C 1: 162,748,114 (GRCm39) T317A possibly damaging Het
Gm11595 A G 11: 99,663,564 (GRCm39) C39R unknown Het
Golim4 T C 3: 75,813,703 (GRCm39) probably benign Het
Greb1 G A 12: 16,740,903 (GRCm39) S1393L possibly damaging Het
Guca1b A G 17: 47,700,044 (GRCm39) I73V probably benign Het
Hdac7 C T 15: 97,694,789 (GRCm39) V796I possibly damaging Het
Hectd1 A G 12: 51,795,616 (GRCm39) I2271T probably damaging Het
Heg1 T G 16: 33,558,627 (GRCm39) Y1066* probably null Het
Helz2 C A 2: 180,880,173 (GRCm39) K514N Het
Ice1 C T 13: 70,740,787 (GRCm39) R70Q Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Itgae A G 11: 73,004,447 (GRCm39) T245A probably damaging Het
Jhy G A 9: 40,822,453 (GRCm39) Q562* probably null Het
Khnyn A G 14: 56,124,735 (GRCm39) R330G probably benign Het
Lamc2 A T 1: 153,027,873 (GRCm39) C184S probably damaging Het
Lhx5 T A 5: 120,574,509 (GRCm39) L271* probably null Het
Magel2 G A 7: 62,029,537 (GRCm39) V814M unknown Het
Manf A G 9: 106,767,461 (GRCm39) I85T possibly damaging Het
Mmp9 C T 2: 164,794,568 (GRCm39) S520F possibly damaging Het
Myrip A G 9: 120,270,484 (GRCm39) E578G possibly damaging Het
Naaladl2 A G 3: 23,900,757 (GRCm39) M691T probably damaging Het
Ncln C T 10: 81,323,519 (GRCm39) V51I probably benign Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Or4c112 T C 2: 88,854,294 (GRCm39) N18D probably benign Het
Or4c117 T C 2: 88,955,608 (GRCm39) I156V probably benign Het
Pcdhga12 A T 18: 37,900,118 (GRCm39) M317L possibly damaging Het
Pcnt T G 10: 76,223,359 (GRCm39) K1941T probably damaging Het
Pde4dip A T 3: 97,650,917 (GRCm39) M896K probably benign Het
Pfkfb3 A T 2: 11,487,254 (GRCm39) probably null Het
Pik3cb A G 9: 98,946,201 (GRCm39) S542P probably benign Het
Pik3cg A G 12: 32,247,257 (GRCm39) V822A probably benign Het
Plcl2 G T 17: 50,915,141 (GRCm39) G717C probably damaging Het
Ptprs C T 17: 56,730,320 (GRCm39) A1185T probably benign Het
Ptpru T A 4: 131,503,560 (GRCm39) I1157F probably damaging Het
Rbbp6 A G 7: 122,591,268 (GRCm39) T457A possibly damaging Het
Rdh16f2 A G 10: 127,712,812 (GRCm39) E270G probably damaging Het
Rrp15 C T 1: 186,453,641 (GRCm39) E269K unknown Het
Sec23b T C 2: 144,401,316 (GRCm39) V59A probably benign Het
Slc22a21 A T 11: 53,846,809 (GRCm39) probably null Het
Sp5 C A 2: 70,306,962 (GRCm39) P216T probably benign Het
Synj1 A T 16: 90,775,622 (GRCm39) D385E probably damaging Het
Trim37 C T 11: 87,097,629 (GRCm39) S808F possibly damaging Het
Tsks A T 7: 44,592,694 (GRCm39) probably benign Het
Upf1 A T 8: 70,791,087 (GRCm39) S563T possibly damaging Het
Upf2 A G 2: 5,987,893 (GRCm39) D580G unknown Het
Usp14 A G 18: 9,996,194 (GRCm39) I462T probably damaging Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Vmn1r184 C G 7: 25,966,310 (GRCm39) Q19E possibly damaging Het
Vps50 C A 6: 3,516,710 (GRCm39) A64E probably benign Het
Zc3h11a T A 1: 133,566,339 (GRCm39) N211I probably damaging Het
Zfp518a A C 19: 40,901,870 (GRCm39) K600Q possibly damaging Het
Zfp729a A T 13: 67,768,061 (GRCm39) S723T probably benign Het
Zmynd12 A T 4: 119,294,286 (GRCm39) I88F 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
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
Predicted Primers PCR Primer
(F):5'- ACAGCGACACCCCTGTTTTC -3'
(R):5'- GAACTGATGACACACTCGAGG -3'

Sequencing Primer
(F):5'- AGGTCCCCATCCTCATCC -3'
(R):5'- GGGTCGTCTGAACTCATTCTGC -3'
Posted On 2021-08-02