Mutagenetix > Incidental Mutation

Incidental Mutation 'R1987:Mutyh'

222623

Institutional Source

Beutler Lab

Gene Symbol

Mutyh

Ensembl Gene

ENSMUSG00000028687

Gene Name

mutY DNA glycosylase

Synonyms

Mutyha, 5730495A01Rik, Mutyhb, Mutyhc, Myh, Mutyhalpha, Mutyhbeta

MMRRC Submission

039999-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1987 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116807723-116819440 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116819368 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 512 (S512R)

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: S512R

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099760
Gene: ENSMUSG00000028687
AA Change: S512R

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

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 92.6%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	A	T	11: 78,268,167	Q433L	probably damaging	Het
4932438A13Rik	T	A	3: 36,953,985		probably null	Het
Ahnak	A	T	19: 9,015,251	D4633V	probably damaging	Het
Akap6	T	C	12: 53,140,795	F1664S	possibly damaging	Het
Arhgef28	T	C	13: 97,967,096	M803V	probably benign	Het
BC117090	C	A	16: 36,321,832	G61C	probably damaging	Het
Ccdc73	T	A	2: 104,931,045	L130*	probably null	Het
Ccdc73	A	G	2: 104,999,159	E1059G	probably damaging	Het
Ccer2	A	C	7: 28,757,283	S151R	possibly damaging	Het
Cep128	T	A	12: 91,230,829	H406L	probably benign	Het
Cep135	A	G	5: 76,597,428	D229G	probably benign	Het
Cpvl	T	A	6: 53,954,611	D103V	probably benign	Het
Disp3	G	A	4: 148,258,753	A567V	probably damaging	Het
Dnah5	T	C	15: 28,343,591	I2379T	probably damaging	Het
Dnah6	T	C	6: 73,095,044	Y2433C	probably damaging	Het
Dock3	A	G	9: 107,108,421	I85T	probably benign	Het
Dock9	A	C	14: 121,591,830	S1380A	probably benign	Het
Erbin	T	C	13: 103,886,203	T43A	probably benign	Het
Fastkd3	T	C	13: 68,585,241	V502A	possibly damaging	Het
Fn1	T	C	1: 71,651,625	H59R	probably damaging	Het
Fsd2	A	G	7: 81,559,659	V145A	possibly damaging	Het
Fzr1	A	G	10: 81,370,319	V178A	probably damaging	Het
Gnpnat1	T	C	14: 45,380,998	R116G	probably damaging	Het
Grm7	T	A	6: 110,914,511	V235E	probably damaging	Het
Hdac4	A	C	1: 91,934,645	N1002K	probably damaging	Het
Hey1	C	T	3: 8,664,897	A167T	probably benign	Het
Hrnr	A	G	3: 93,332,604	N3383S	unknown	Het
Ints2	A	T	11: 86,217,800	V907D	probably benign	Het
Ispd	T	A	12: 36,521,996	L301Q	probably damaging	Het
Jchain	T	A	5: 88,521,467	Q109L	probably damaging	Het
Klhdc7a	A	T	4: 139,966,024	Y537*	probably null	Het
Klra1	C	T	6: 130,377,779	S92N	probably benign	Het
Krt31	C	T	11: 100,049,580	G150S	probably benign	Het
Lrrc71	G	A	3: 87,742,643	T326M	probably benign	Het
Lrrn4	T	C	2: 132,870,443	T487A	probably benign	Het
Map4k5	T	G	12: 69,842,912	R198S	probably damaging	Het
Men1	G	A	19: 6,338,837	C354Y	probably damaging	Het
Ms4a18	A	T	19: 11,013,655	V25E	probably damaging	Het
Myh10	G	T	11: 68,814,496	A1947S	possibly damaging	Het
Nfasc	T	C	1: 132,610,886	D427G	probably damaging	Het
Nlrp9c	A	G	7: 26,378,056	M767T	probably benign	Het
Nrbp1	T	C	5: 31,245,391	L185P	probably damaging	Het
Pcdh9	G	A	14: 93,888,305	P143L	probably damaging	Het
Pcsk6	A	T	7: 65,927,287	M158L	possibly damaging	Het
Pkd1	G	T	17: 24,576,592		probably null	Het
Plk4	A	T	3: 40,805,817	S383C	possibly damaging	Het
Plxna2	T	C	1: 194,643,989	L77P	probably damaging	Het
Pnpla6	A	T	8: 3,542,370	T1209S	probably benign	Het
Prdm2	A	G	4: 143,132,509	S1404P	possibly damaging	Het
Preb	T	C	5: 30,958,813	D150G	probably damaging	Het
Prrt2	A	G	7: 127,018,730	V59A	probably benign	Het
Prss40	T	C	1: 34,558,014	N151S	possibly damaging	Het
Ptprt	G	T	2: 161,558,898	A1053D	probably damaging	Het
Ptprt	A	G	2: 161,766,321	V685A	possibly damaging	Het
Rfx4	C	T	10: 84,896,088	S549F	possibly damaging	Het
Rnaset2b	T	A	17: 6,996,477	V87E	probably benign	Het
Rnf213	G	A	11: 119,441,107	E2381K	probably damaging	Het
Sectm1a	A	T	11: 121,069,680	I103N	probably damaging	Het
Selp	T	A	1: 164,142,758	L597Q	probably damaging	Het
Sema6a	T	C	18: 47,300,142	D74G	probably damaging	Het
Serpinb9b	T	C	13: 33,029,559	V33A	probably benign	Het
Setd1b	A	T	5: 123,147,706	T272S	unknown	Het
Sgf29	G	C	7: 126,649,477		probably null	Het
Slc4a10	C	A	2: 62,268,204	Q561K	probably damaging	Het
Slc4a5	T	C	6: 83,273,232	I649T	possibly damaging	Het
Slc5a7	A	G	17: 54,293,835	Y91H	probably damaging	Het
Styxl1	T	C	5: 135,757,122	Y23C	probably damaging	Het
Tbc1d24	A	G	17: 24,206,872	V490A	possibly damaging	Het
Tbpl2	A	T	2: 24,094,732	F133L	probably benign	Het
Tcrg-C3	C	A	13: 19,260,994	F37L	probably damaging	Het
Tnfrsf22	T	C	7: 143,638,389		probably benign	Het
Top2b	A	G	14: 16,398,916	E512G	probably damaging	Het
Ttc17	T	A	2: 94,364,345	H561L	probably benign	Het
Ttll4	G	T	1: 74,685,368	V566L	possibly damaging	Het
Ubqlnl	A	G	7: 104,148,485	Y602H	probably benign	Het
Vmn1r231	T	A	17: 20,889,950	E234D	probably damaging	Het
Wbp11	A	G	6: 136,820,585	S279P	probably damaging	Het
Wdr6	A	G	9: 108,576,534	L50P	probably damaging	Het
Zfp715	A	C	7: 43,298,649	I629S	possibly damaging	Het

Other mutations in Mutyh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Mutyh	APN	4	116819319	missense	possibly damaging	0.78
IGL02212:Mutyh	APN	4	116815606	missense	probably damaging	1.00
BB007:Mutyh	UTSW	4	116816956	missense	probably benign	0.35
BB017:Mutyh	UTSW	4	116816956	missense	probably benign	0.35
PIT4362001:Mutyh	UTSW	4	116817070	missense	probably damaging	1.00
R1520:Mutyh	UTSW	4	116817552	missense	probably damaging	1.00
R1928:Mutyh	UTSW	4	116816658	missense	probably damaging	1.00
R2914:Mutyh	UTSW	4	116815629	missense	probably damaging	0.99
R3694:Mutyh	UTSW	4	116816454	missense	possibly damaging	0.62
R4722:Mutyh	UTSW	4	116816872	missense	probably damaging	1.00
R4801:Mutyh	UTSW	4	116817029	missense	probably benign	0.17
R4802:Mutyh	UTSW	4	116817029	missense	probably benign	0.17
R4837:Mutyh	UTSW	4	116817690	missense	probably damaging	1.00
R4993:Mutyh	UTSW	4	116817935	missense	probably benign	0.01
R7930:Mutyh	UTSW	4	116816956	missense	probably benign	0.35
R9307:Mutyh	UTSW	4	116816877	critical splice donor site	probably null
R9566:Mutyh	UTSW	4	116816583	missense	probably damaging	1.00
R9701:Mutyh	UTSW	4	116819288	missense	probably benign	0.00
R9802:Mutyh	UTSW	4	116819288	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCAGTTGGAAATTTCTCCCTACC -3'
(R):5'- TCGAGGGAGAACATCTGGTC -3'

Sequencing Primer
(F):5'- GGAAATTTCTCCCTACCCCAGTGG -3'
(R):5'- AGAACATCTGGTCAGGGTGCC -3'

Posted On

2014-08-25