Incidental Mutation 'R2914:Mutyh'
| ID |
254795 |
| 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 |
040501-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2914 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
116664920-116676637 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 116672826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 60
(D60N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122777
(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 |
probably benign
Transcript: ENSMUST00000102699
AA Change: D60N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000099760
Gene: ENSMUSG00000028687
AA Change: D60N
| 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 damaging
Transcript: ENSMUST00000130359
AA Change: D60N
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135449
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138056
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140680
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155346
AA Change: D60N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122777
Gene: ENSMUSG00000028687
AA Change: D60N
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3N5N|Y
|
50 |
100 |
3e-20 |
PDB |
|
SCOP:d1keaa_
|
59 |
86 |
3e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.1435 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (41/41) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
A |
G |
5: 30,401,992 (GRCm39) |
S679P |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cryl1 |
T |
C |
14: 57,513,375 (GRCm39) |
E282G |
probably benign |
Het |
| Dbn1 |
A |
G |
13: 55,630,234 (GRCm39) |
F45L |
probably damaging |
Het |
| Dclre1b |
T |
C |
3: 103,715,430 (GRCm39) |
M105V |
probably damaging |
Het |
| Defb12 |
T |
C |
8: 19,164,830 (GRCm39) |
N3D |
probably benign |
Het |
| Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
| Fa2h |
T |
C |
8: 112,120,281 (GRCm39) |
D35G |
probably damaging |
Het |
| Fdxacb1 |
C |
T |
9: 50,679,699 (GRCm39) |
A39V |
probably benign |
Het |
| Fras1 |
G |
A |
5: 96,881,774 (GRCm39) |
R2502K |
probably benign |
Het |
| Grm1 |
A |
G |
10: 10,955,601 (GRCm39) |
S228P |
probably benign |
Het |
| Il27ra |
T |
A |
8: 84,758,242 (GRCm39) |
|
probably benign |
Het |
| Lrrtm1 |
A |
T |
6: 77,221,962 (GRCm39) |
Q473L |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,369,704 (GRCm39) |
I121F |
probably damaging |
Het |
| Mael |
A |
T |
1: 166,054,179 (GRCm39) |
F188I |
probably damaging |
Het |
| Mapk4 |
C |
T |
18: 74,068,236 (GRCm39) |
A232T |
probably benign |
Het |
| Mrpl9 |
C |
A |
3: 94,351,108 (GRCm39) |
T96K |
probably damaging |
Het |
| Musk |
C |
A |
4: 58,366,938 (GRCm39) |
L511I |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,954,274 (GRCm39) |
|
probably null |
Het |
| Nktr |
T |
C |
9: 121,578,670 (GRCm39) |
|
probably benign |
Het |
| Otud7b |
C |
A |
3: 96,063,272 (GRCm39) |
A837E |
probably benign |
Het |
| Pigb |
A |
T |
9: 72,947,060 (GRCm39) |
|
probably null |
Het |
| Pip4k2b |
G |
T |
11: 97,613,260 (GRCm39) |
N245K |
probably benign |
Het |
| Ptprd |
T |
A |
4: 75,865,338 (GRCm39) |
D1464V |
probably damaging |
Het |
| Rab22a |
A |
G |
2: 173,537,074 (GRCm39) |
N98S |
probably benign |
Het |
| Rictor |
G |
T |
15: 6,799,476 (GRCm39) |
|
probably null |
Het |
| Rims1 |
T |
C |
1: 22,844,711 (GRCm39) |
E32G |
probably damaging |
Het |
| Slx4ip |
A |
G |
2: 136,909,511 (GRCm39) |
|
probably null |
Het |
| Snx19 |
G |
A |
9: 30,344,828 (GRCm39) |
|
probably benign |
Het |
| Snx29 |
C |
T |
16: 11,265,317 (GRCm39) |
R516W |
probably damaging |
Het |
| Tcof1 |
T |
C |
18: 60,949,156 (GRCm39) |
D1253G |
possibly damaging |
Het |
| Tmod1 |
A |
T |
4: 46,092,259 (GRCm39) |
N203I |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,759,078 (GRCm39) |
N880S |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,599,979 (GRCm39) |
I19065N |
probably damaging |
Het |
| Txk |
T |
C |
5: 72,881,794 (GRCm39) |
N154S |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,590,337 (GRCm39) |
|
probably null |
Het |
| Vmn1r65 |
T |
A |
7: 6,012,040 (GRCm39) |
I65F |
possibly damaging |
Het |
| Yes1 |
T |
C |
5: 32,797,926 (GRCm39) |
S82P |
probably benign |
Het |
|
| Other mutations in Mutyh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- TTTCCAGAGATGACTCAGCTC -3'
(R):5'- TGTACTGACCAGCATAGGCC -3'
Sequencing Primer
(F):5'- GATGACTCAGCTCTCAGGCAGTTC -3'
(R):5'- AGCATAGGCCCTCCTGTC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation