Incidental Mutation 'R1520:Mutyh'
ID 167353
Institutional Source Beutler Lab
Gene Symbol Mutyh
Ensembl Gene ENSMUSG00000028687
Gene Name mutY DNA glycosylase
Synonyms 5730495A01Rik, Mutyhb, Myh, Mutyha, Mutyhbeta, Mutyhalpha, Mutyhc
MMRRC Submission 039564-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1520 (G1)
Quality Score 221
Status Not validated
Chromosome 4
Chromosomal Location 116664920-116676637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116674749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 357 (L357P)
Ref Sequence ENSEMBL: ENSMUSP00000099760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055436] [ENSMUST00000102699] [ENSMUST00000130359] [ENSMUST00000155346]
AlphaFold Q99P21
Predicted Effect probably benign
Transcript: ENSMUST00000055436
SMART Domains Protein: ENSMUSP00000062327
Gene: ENSMUSG00000043155

DomainStartEndE-ValueType
SCOP:d1cjxa2 3 144 6e-7 SMART
PDB:1T47|B 4 367 8e-32 PDB
SCOP:d1cjxa2 161 367 5e-29 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102699
AA Change: L357P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099760
Gene: ENSMUSG00000028687
AA Change: L357P

DomainStartEndE-ValueType
ENDO3c 107 259 1.46e-52 SMART
FES 260 280 2.16e-5 SMART
Pfam:NUDIX_4 353 463 2.3e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124857
Predicted Effect probably benign
Transcript: ENSMUST00000130359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138056
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140680
Predicted Effect probably benign
Transcript: ENSMUST00000155346
SMART Domains Protein: ENSMUSP00000122777
Gene: ENSMUSG00000028687

DomainStartEndE-ValueType
PDB:3N5N|Y 50 100 3e-20 PDB
SCOP:d1keaa_ 59 86 3e-3 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. Mutations in this gene result in heritable predisposition to colon and stomach cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are viable and show no increase in tumor incidence relative to wild-type through 17 months of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A G 10: 79,844,664 (GRCm39) N1491S possibly damaging Het
Abcb1b G A 5: 8,864,768 (GRCm39) A249T probably damaging Het
Acacb A G 5: 114,340,001 (GRCm39) D804G possibly damaging Het
Agpat3 A T 10: 78,123,857 (GRCm39) M1K probably null Het
Akr1c12 A C 13: 4,326,298 (GRCm39) I61R probably damaging Het
Antxr2 G A 5: 98,108,551 (GRCm39) A320V probably benign Het
Aoc1l2 T A 6: 48,908,231 (GRCm39) Y410* probably null Het
Arhgef1 A G 7: 24,619,129 (GRCm39) R454G probably damaging Het
C1ql4 T C 15: 98,985,548 (GRCm39) H21R probably benign Het
Celsr3 T C 9: 108,725,857 (GRCm39) S3029P probably damaging Het
Chaf1a T C 17: 56,354,302 (GRCm39) C191R unknown Het
Corin A C 5: 72,488,238 (GRCm39) C627G probably damaging Het
Cyp3a11 T C 5: 145,799,263 (GRCm39) Y308C probably damaging Het
Cyp4a32 A G 4: 115,471,849 (GRCm39) N420S probably damaging Het
Eftud2 A G 11: 102,730,266 (GRCm39) S889P probably damaging Het
Eng A G 2: 32,562,953 (GRCm39) H267R probably benign Het
Ep400 A G 5: 110,839,644 (GRCm39) probably benign Het
Fmo9 G T 1: 166,495,024 (GRCm39) H292Q probably benign Het
Frmpd4 T C X: 166,275,949 (GRCm39) S373G probably damaging Het
Fsip2 T A 2: 82,811,058 (GRCm39) I2459K possibly damaging Het
Gbp5 A T 3: 142,213,775 (GRCm39) H523L probably damaging Het
Gpr65 T C 12: 98,241,434 (GRCm39) V29A probably benign Het
Igkv7-33 T A 6: 70,036,132 (GRCm39) probably benign Het
Iqcc G A 4: 129,510,762 (GRCm39) T251I possibly damaging Het
Jund A G 8: 71,151,923 (GRCm39) T73A probably benign Het
Kif14 A G 1: 136,431,062 (GRCm39) D1153G probably benign Het
Mcm8 T C 2: 132,681,375 (GRCm39) V617A probably benign Het
Mdga1 A G 17: 30,065,493 (GRCm39) F646L probably benign Het
Morc3 A G 16: 93,641,129 (GRCm39) K54E probably damaging Het
Mylk4 T C 13: 32,896,821 (GRCm39) probably null Het
Or4k41 G A 2: 111,279,619 (GRCm39) V45I probably benign Het
Osbpl3 T A 6: 50,323,411 (GRCm39) D224V possibly damaging Het
Parp4 T C 14: 56,835,863 (GRCm39) I469T probably damaging Het
Pkd1l2 A G 8: 117,772,898 (GRCm39) V1043A probably benign Het
Plod3 A G 5: 137,020,165 (GRCm39) N460S probably damaging Het
Preb A G 5: 31,115,868 (GRCm39) F192L probably benign Het
Prkra T C 2: 76,469,622 (GRCm39) T146A possibly damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Rag2 T C 2: 101,460,476 (GRCm39) I262T probably damaging Het
Rgr A G 14: 36,766,672 (GRCm39) W125R probably damaging Het
Rit1 T A 3: 88,636,620 (GRCm39) F211I probably benign Het
Sc5d C T 9: 42,169,946 (GRCm39) V92I probably benign Het
Serinc2 C T 4: 130,154,543 (GRCm39) V234I probably benign Het
Srp54b T C 12: 55,304,354 (GRCm39) M434T possibly damaging Het
Srrt C A 5: 137,297,028 (GRCm39) R69L probably damaging Het
Sv2b A G 7: 74,807,077 (GRCm39) L191P probably damaging Het
Tcf12 C A 9: 71,790,388 (GRCm39) probably null Het
Tmem273 A T 14: 32,527,083 (GRCm39) probably benign Het
Tmem87b T C 2: 128,681,176 (GRCm39) probably null Het
Ttn T C 2: 76,647,392 (GRCm39) E11031G possibly damaging Het
Uaca A T 9: 60,778,663 (GRCm39) T1017S probably benign Het
Urb1 C A 16: 90,571,633 (GRCm39) V1059L probably benign Het
V1rd19 G A 7: 23,702,623 (GRCm39) A30T probably damaging Het
Vldlr C T 19: 27,217,943 (GRCm39) L91F probably damaging Het
Vldlr G T 19: 27,224,466 (GRCm39) A770S possibly damaging Het
Vmn2r80 A G 10: 79,030,594 (GRCm39) T807A probably damaging Het
Wwox C T 8: 115,438,873 (GRCm39) P313L probably benign Het
Zap70 T C 1: 36,810,036 (GRCm39) S49P probably damaging Het
Zfp317 A G 9: 19,559,144 (GRCm39) I453V possibly damaging Het
Other mutations in Mutyh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Mutyh APN 4 116,676,516 (GRCm39) missense possibly damaging 0.78
IGL02212:Mutyh APN 4 116,672,803 (GRCm39) missense probably damaging 1.00
BB007:Mutyh UTSW 4 116,674,153 (GRCm39) missense probably benign 0.35
BB017:Mutyh UTSW 4 116,674,153 (GRCm39) missense probably benign 0.35
PIT4362001:Mutyh UTSW 4 116,674,267 (GRCm39) missense probably damaging 1.00
R1928:Mutyh UTSW 4 116,673,855 (GRCm39) missense probably damaging 1.00
R1987:Mutyh UTSW 4 116,676,565 (GRCm39) missense possibly damaging 0.47
R2914:Mutyh UTSW 4 116,672,826 (GRCm39) missense probably damaging 0.99
R3694:Mutyh UTSW 4 116,673,651 (GRCm39) missense possibly damaging 0.62
R4722:Mutyh UTSW 4 116,674,069 (GRCm39) missense probably damaging 1.00
R4801:Mutyh UTSW 4 116,674,226 (GRCm39) missense probably benign 0.17
R4802:Mutyh UTSW 4 116,674,226 (GRCm39) missense probably benign 0.17
R4837:Mutyh UTSW 4 116,674,887 (GRCm39) missense probably damaging 1.00
R4993:Mutyh UTSW 4 116,675,132 (GRCm39) missense probably benign 0.01
R7930:Mutyh UTSW 4 116,674,153 (GRCm39) missense probably benign 0.35
R9307:Mutyh UTSW 4 116,674,074 (GRCm39) critical splice donor site probably null
R9566:Mutyh UTSW 4 116,673,780 (GRCm39) missense probably damaging 1.00
R9701:Mutyh UTSW 4 116,676,485 (GRCm39) missense probably benign 0.00
R9802:Mutyh UTSW 4 116,676,485 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACTAGACAGTGCCAGCTTTGCC -3'
(R):5'- ATGTGAACCCAGAATCCCTCGTCC -3'

Sequencing Primer
(F):5'- AGCTTTGCCTCACTTCCTCAAG -3'
(R):5'- TACCTCCCCAAGGTGCTG -3'
Posted On 2014-04-13