Incidental Mutation 'IGL00334:Mutyh'
| ID |
6598 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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)
|
| Stock # |
IGL00334
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
116664920-116676637 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116676516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 496
(V496D)
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1cjxa2
|
3 |
144 |
6e-7 |
SMART |
|
PDB:1T47|B
|
4 |
367 |
8e-32 |
PDB |
|
SCOP:d1cjxa2
|
161 |
367 |
5e-29 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102699
AA Change: V496D
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099760
Gene: ENSMUSG00000028687
AA Change: V496D
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3N5N|Y
|
50 |
100 |
3e-20 |
PDB |
|
SCOP:d1keaa_
|
59 |
86 |
3e-3 |
SMART |
|
| Coding Region Coverage |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arsb |
T |
G |
13: 94,075,787 (GRCm39) |
H423Q |
probably benign |
Het |
| Bltp2 |
T |
A |
11: 78,160,400 (GRCm39) |
L620I |
possibly damaging |
Het |
| Ces1f |
T |
C |
8: 93,994,620 (GRCm39) |
T264A |
probably benign |
Het |
| Clcn6 |
C |
A |
4: 148,102,359 (GRCm39) |
|
probably null |
Het |
| Cyb5r3 |
C |
A |
15: 83,044,605 (GRCm39) |
A138S |
probably benign |
Het |
| Cyp3a57 |
A |
T |
5: 145,307,834 (GRCm39) |
N197Y |
probably damaging |
Het |
| Dctn2 |
A |
G |
10: 127,113,559 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
C |
T |
9: 20,821,566 (GRCm39) |
A1197T |
possibly damaging |
Het |
| Dock2 |
T |
C |
11: 34,595,488 (GRCm39) |
D436G |
probably damaging |
Het |
| Drd4 |
A |
G |
7: 140,872,096 (GRCm39) |
N49S |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,205,373 (GRCm39) |
V521D |
probably damaging |
Het |
| Eif5b |
T |
C |
1: 38,080,800 (GRCm39) |
S714P |
probably damaging |
Het |
| Glis3 |
A |
G |
19: 28,517,664 (GRCm39) |
I178T |
probably damaging |
Het |
| Gm11565 |
T |
A |
11: 99,806,021 (GRCm39) |
C138S |
possibly damaging |
Het |
| H1f8 |
T |
A |
6: 115,924,588 (GRCm39) |
|
probably benign |
Het |
| Hdx |
T |
A |
X: 110,492,578 (GRCm39) |
I623F |
probably benign |
Het |
| Huwe1 |
T |
G |
X: 150,668,623 (GRCm39) |
L843V |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,447,604 (GRCm39) |
Y86H |
probably damaging |
Het |
| Irf7 |
A |
T |
7: 140,844,553 (GRCm39) |
S157T |
probably benign |
Het |
| Jmjd4 |
T |
A |
11: 59,346,140 (GRCm39) |
M331K |
probably damaging |
Het |
| Kdm2a |
A |
T |
19: 4,406,926 (GRCm39) |
D112E |
possibly damaging |
Het |
| Mamdc2 |
A |
C |
19: 23,356,138 (GRCm39) |
Y103* |
probably null |
Het |
| Map2k3 |
T |
C |
11: 60,834,041 (GRCm39) |
V77A |
possibly damaging |
Het |
| Mideas |
G |
A |
12: 84,219,629 (GRCm39) |
R442* |
probably null |
Het |
| Mprip |
T |
A |
11: 59,639,417 (GRCm39) |
D403E |
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,321,042 (GRCm39) |
V2051A |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,367,262 (GRCm39) |
L2575P |
probably damaging |
Het |
| Or10j5 |
T |
G |
1: 172,785,158 (GRCm39) |
S265R |
possibly damaging |
Het |
| Or51a6 |
T |
C |
7: 102,604,311 (GRCm39) |
K173E |
probably benign |
Het |
| Pcdhb6 |
T |
A |
18: 37,467,277 (GRCm39) |
I66N |
probably damaging |
Het |
| Pck2 |
T |
C |
14: 55,780,098 (GRCm39) |
Y89H |
probably benign |
Het |
| Poglut3 |
T |
A |
9: 53,309,330 (GRCm39) |
|
probably benign |
Het |
| Poglut3 |
C |
A |
9: 53,309,328 (GRCm39) |
|
probably benign |
Het |
| Polr3e |
C |
T |
7: 120,540,034 (GRCm39) |
Q594* |
probably null |
Het |
| Ptpro |
T |
G |
6: 137,371,907 (GRCm39) |
|
probably null |
Het |
| Rfx4 |
A |
G |
10: 84,615,917 (GRCm39) |
K28E |
possibly damaging |
Het |
| Shox2 |
T |
C |
3: 66,888,774 (GRCm39) |
E39G |
possibly damaging |
Het |
| Slc22a16 |
A |
T |
10: 40,449,930 (GRCm39) |
D122V |
probably benign |
Het |
| Smr3a |
A |
C |
5: 88,155,919 (GRCm39) |
|
probably benign |
Het |
| Spmip8 |
G |
A |
8: 96,039,676 (GRCm39) |
R31H |
probably damaging |
Het |
| Taf4 |
G |
T |
2: 179,618,418 (GRCm39) |
L8M |
unknown |
Het |
| Tbkbp1 |
T |
A |
11: 97,028,474 (GRCm39) |
|
probably benign |
Het |
| Tmem120b |
G |
T |
5: 123,253,230 (GRCm39) |
E210D |
probably damaging |
Het |
| Tmem120b |
A |
T |
5: 123,253,229 (GRCm39) |
|
probably null |
Het |
| Trim21 |
C |
T |
7: 102,208,805 (GRCm39) |
V305M |
probably damaging |
Het |
| Ube4a |
A |
T |
9: 44,859,439 (GRCm39) |
L353Q |
probably damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,621,572 (GRCm39) |
N274K |
probably benign |
Het |
|
| Other mutations in Mutyh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation