Incidental Mutation 'BB007:Mutyh'
ID 642398
Institutional Source Beutler Lab
Gene Symbol Mutyh
Ensembl Gene ENSMUSG00000028687
Gene Name mutY DNA glycosylase
Synonyms 5730495A01Rik, Mutyhb, Myh, Mutyha, Mutyhbeta, Mutyhalpha, Mutyhc
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # BB007
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 116664920-116676637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116674153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 235 (N235Y)
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 benign
Transcript: ENSMUST00000102699
AA Change: N235Y

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099760
Gene: ENSMUSG00000028687
AA Change: N235Y

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 probably benign
Transcript: ENSMUST00000130359
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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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
Adam20 C T 8: 41,250,107 (GRCm39) T739I probably benign Het
Adam23 G T 1: 63,624,586 (GRCm39) V805F possibly damaging Het
Adamts17 A T 7: 66,499,547 (GRCm39) R31S probably damaging Het
Ano4 T A 10: 89,163,138 (GRCm39) Y27F possibly damaging Het
Bbs2 A G 8: 94,796,625 (GRCm39) V675A probably damaging Het
Brca2 A G 5: 150,481,975 (GRCm39) E2839G probably damaging Het
Capn5 C T 7: 97,773,085 (GRCm39) V640I probably benign Het
Casp4 C T 9: 5,321,318 (GRCm39) T23M probably damaging Het
Cerk C T 15: 86,028,920 (GRCm39) E379K possibly damaging Het
Comp G A 8: 70,826,503 (GRCm39) G26D probably damaging Het
Cpxm1 G A 2: 130,236,982 (GRCm39) A220V possibly damaging Het
Cyp2c69 G T 19: 39,831,434 (GRCm39) P460T possibly damaging Het
Ddx23 T C 15: 98,546,504 (GRCm39) D555G probably damaging Het
E2f6 T A 12: 16,869,058 (GRCm39) I127K probably damaging Het
Efr3a T A 15: 65,733,589 (GRCm39) D716E probably benign Het
Esp16 T G 17: 39,850,868 (GRCm39) S82R possibly damaging Het
Fasn A C 11: 120,700,061 (GRCm39) S2199A probably benign Het
Fscb A G 12: 64,519,337 (GRCm39) S710P unknown Het
Gas7 A G 11: 67,556,217 (GRCm39) I185M probably damaging Het
Glg1 A T 8: 111,887,367 (GRCm39) L1047I possibly damaging Het
Golga5 A G 12: 102,450,681 (GRCm39) N445D probably benign Het
Grin2c A T 11: 115,147,063 (GRCm39) H377Q probably benign Het
Hmgcs1 T C 13: 120,161,499 (GRCm39) I97T possibly damaging Het
Ifi211 T C 1: 173,733,769 (GRCm39) T131A possibly damaging Het
Ifngr1 A G 10: 19,484,931 (GRCm39) K310R probably damaging Het
Il18rap T C 1: 40,587,803 (GRCm39) V467A probably damaging Het
Itgad C A 7: 127,782,280 (GRCm39) Q239K probably benign Het
Jrkl T C 9: 13,245,506 (GRCm39) I52V possibly damaging Het
Kdm6b A T 11: 69,290,778 (GRCm39) D1630E unknown Het
Krt75 C A 15: 101,473,318 (GRCm39) *552L probably null Het
Mbd2 A G 18: 70,701,948 (GRCm39) D154G probably damaging Het
Myo5b A G 18: 74,864,825 (GRCm39) T1348A probably benign Het
Ndufs7 T C 10: 80,089,619 (GRCm39) probably null Het
Nup205 T G 6: 35,171,511 (GRCm39) M458R probably damaging Het
Or1e32 A C 11: 73,705,926 (GRCm39) probably benign Het
Or1j4 G T 2: 36,740,285 (GRCm39) V76F probably damaging Het
Or2at1 A T 7: 99,416,803 (GRCm39) T145S probably benign Het
Or5b119 G A 19: 13,457,019 (GRCm39) P181L probably damaging Het
Or6b2 T A 1: 92,407,570 (GRCm39) M258L probably benign Het
Or8b101 A G 9: 38,020,264 (GRCm39) N89S possibly damaging Het
Or8k25 T A 2: 86,243,560 (GRCm39) T279S probably damaging Het
Plcl2 T G 17: 50,913,831 (GRCm39) I280S probably benign Het
Ppargc1a A T 5: 51,630,264 (GRCm39) Y618N unknown Het
Rab43 A T 6: 87,788,348 (GRCm39) I60N probably damaging Het
Rnf126 A T 10: 79,596,726 (GRCm39) C231S probably damaging Het
Rnf220 T A 4: 117,164,787 (GRCm39) E238D probably damaging Het
Scn9a A T 2: 66,335,193 (GRCm39) D1265E probably damaging Het
Sntb2 T A 8: 107,728,269 (GRCm39) S406T probably damaging Het
Sos1 T C 17: 80,714,267 (GRCm39) I1068V probably benign Het
Spart A G 3: 55,035,697 (GRCm39) K519E probably damaging Het
Tlx3 A T 11: 33,153,058 (GRCm39) F134L probably damaging Het
Trbj1-2 A T 6: 41,510,964 (GRCm39) T10S Het
Txk A C 5: 72,892,536 (GRCm39) L33R probably damaging Het
Ulk2 A G 11: 61,682,258 (GRCm39) probably null Het
Usp20 T C 2: 30,900,556 (GRCm39) S357P probably benign Het
Wac T A 18: 7,921,560 (GRCm39) N565K possibly damaging Het
Zfp1007 A T 5: 109,823,622 (GRCm39) C609* probably null Het
Zfp709 G T 8: 72,644,684 (GRCm39) K704N probably damaging Het
Zfp788 C T 7: 41,299,049 (GRCm39) Q562* probably null 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
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
R1520:Mutyh UTSW 4 116,674,749 (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'- TACTCCAAGTCCAGTCTGACCC -3'
(R):5'- AAGGGTCACTCTCTAGGACAC -3'

Sequencing Primer
(F):5'- AGGCTCCTCTTGTGCAGGTAAC -3'
(R):5'- GGTCACTCTCTAGGACACTCTAATAC -3'
Posted On 2020-08-01