Mutagenetix > Incidental Mutation

Incidental Mutation 'R5244:Wnt10a'

401026

Institutional Source

Beutler Lab

Gene Symbol

Wnt10a

Ensembl Gene

ENSMUSG00000026167

Gene Name

wingless-type MMTV integration site family, member 10A

Synonyms

MMRRC Submission

042815-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5244 (G1)

Quality Score

114

Status

Validated

Chromosome

Chromosomal Location

74831178-74843335 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74842454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 310 (L310P)

Ref Sequence

ENSEMBL: ENSMUSP00000006718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006718]

AlphaFold

P70701

Predicted Effect

probably damaging
Transcript: ENSMUST00000006718
AA Change: L310P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000006718
Gene: ENSMUSG00000026167
AA Change: L310P

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
WNT1	63	417	4.97e-143	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000187238

Meta Mutation Damage Score

0.1520

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is strongly expressed in the cell lines of promyelocytic leukemia and Burkitt's lymphoma. In addition, it and another family member, the WNT6 gene, are strongly coexpressed in colorectal cancer cell lines. The gene overexpression may play key roles in carcinogenesis through activation of the WNT-beta-catenin-TCF signaling pathway. This gene and the WNT6 gene are clustered in the chromosome 2q35 region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit taurodontism, supernumerary molars, small molars and misshapened crowns. Mice homozygous for a conditional allele activated in Krt14+ cells also exhibit decreased basal cell proliferation affecting the tongue, sweat glands and nails. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	G	T	9: 53,323,098 (GRCm39)	G45W	probably damaging	Het
Abca13	C	T	11: 9,225,081 (GRCm39)	T520I	probably benign	Het
Adamtsl3	C	T	7: 82,247,277 (GRCm39)	P485L	probably benign	Het
Bbof1	A	C	12: 84,476,847 (GRCm39)	E492A	possibly damaging	Het
Capn11	T	C	17: 45,944,818 (GRCm39)	E483G	probably damaging	Het
Cbs	C	T	17: 31,836,134 (GRCm39)	G438D	probably damaging	Het
Chil6	A	G	3: 106,297,290 (GRCm39)	Y284H	probably damaging	Het
Cops4	C	A	5: 100,681,241 (GRCm39)	Q131K	probably benign	Het
Cul4a	T	C	8: 13,196,566 (GRCm39)	I740T	probably damaging	Het
Cyfip1	C	T	7: 55,574,947 (GRCm39)	T1066I	probably damaging	Het
Dnah7b	T	C	1: 46,273,018 (GRCm39)	L2382P	probably damaging	Het
Ehd3	A	T	17: 74,136,995 (GRCm39)	H388L	probably benign	Het
Fam13a	G	T	6: 58,930,459 (GRCm39)	Y484*	probably null	Het
Gm5117	A	G	8: 32,228,305 (GRCm39)		noncoding transcript	Het
Gulp1	G	A	1: 44,827,613 (GRCm39)	D260N	probably damaging	Het
Hhipl1	T	A	12: 108,278,393 (GRCm39)	N240K	probably damaging	Het
Hydin	A	T	8: 111,259,451 (GRCm39)	E2474D	possibly damaging	Het
Ifi207	C	T	1: 173,557,503 (GRCm39)	V412I	probably benign	Het
Ighv9-4	T	C	12: 114,263,871 (GRCm39)	I21V	probably benign	Het
Kcnh1	A	T	1: 191,907,184 (GRCm39)	T79S	probably benign	Het
Kpna6	A	G	4: 129,549,221 (GRCm39)		probably null	Het
Lnpk	C	T	2: 74,362,232 (GRCm39)	G262D	probably damaging	Het
Lsm7	T	C	10: 80,688,907 (GRCm39)	E66G	probably benign	Het
Mbd3l1	T	A	9: 18,395,933 (GRCm39)	C19*	probably null	Het
Mfsd6l	T	A	11: 68,448,001 (GRCm39)	L284Q	possibly damaging	Het
Naip5	C	T	13: 100,382,170 (GRCm39)	V180I	probably benign	Het
Or2ag1b	T	A	7: 106,288,396 (GRCm39)	I181F	probably benign	Het
Or2j6	A	T	7: 139,980,051 (GRCm39)	C303S	probably benign	Het
Or4k39	T	A	2: 111,238,899 (GRCm39)		noncoding transcript	Het
Or6d13	T	A	6: 116,518,187 (GRCm39)	Y258N	probably damaging	Het
Or7g22	A	T	9: 19,049,147 (GRCm39)	N286I	probably damaging	Het
Or8g20	T	G	9: 39,395,808 (GRCm39)	H247P	probably damaging	Het
Or8u10	C	G	2: 85,915,300 (GRCm39)	A274P	probably damaging	Het
Pck1	T	A	2: 172,996,656 (GRCm39)	I190N	possibly damaging	Het
Pfkfb3	T	A	2: 11,489,660 (GRCm39)	I209F	probably damaging	Het
Phc1	A	G	6: 122,298,938 (GRCm39)	S677P	probably damaging	Het
Pirb	G	A	7: 3,719,062 (GRCm39)	A609V	probably benign	Het
Plag1	A	T	4: 3,903,887 (GRCm39)	S435T	probably benign	Het
Plscr2	C	G	9: 92,173,102 (GRCm39)	L215V	probably benign	Het
Pnma8a	A	G	7: 16,695,248 (GRCm39)	S368G	probably damaging	Het
Polr2b	A	G	5: 77,490,847 (GRCm39)		probably benign	Het
Pthlh	T	C	6: 147,158,651 (GRCm39)	Y103C	probably damaging	Het
Ptprq	A	G	10: 107,422,556 (GRCm39)	V1612A	possibly damaging	Het
Rprd2	T	A	3: 95,697,494 (GRCm39)	I85L	possibly damaging	Het
Slc27a2	T	C	2: 126,420,775 (GRCm39)	V422A	probably benign	Het
Slc29a1	T	C	17: 45,899,339 (GRCm39)		probably benign	Het
Slc36a4	A	T	9: 15,645,574 (GRCm39)	I334F	probably benign	Het
Slc4a10	T	A	2: 62,119,069 (GRCm39)	S761R	probably damaging	Het
Spa17	T	A	9: 37,523,285 (GRCm39)	M1L	probably damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Stk19	A	G	17: 35,051,046 (GRCm39)	L72P	probably damaging	Het
Trhde	T	C	10: 114,636,986 (GRCm39)	M74V	probably benign	Het
Trim37	C	T	11: 87,109,083 (GRCm39)	H937Y	probably benign	Het
Ttc7b	A	G	12: 100,314,269 (GRCm39)	L46P	probably damaging	Het
Ttll4	T	C	1: 74,735,607 (GRCm39)	V1005A	probably benign	Het
Ugt2b36	T	C	5: 87,239,765 (GRCm39)	T207A	probably damaging	Het
Unc13c	C	T	9: 73,433,233 (GRCm39)		probably null	Het
Vmn1r221	T	C	13: 23,401,808 (GRCm39)		noncoding transcript	Het
Vmn2r101	T	C	17: 19,831,788 (GRCm39)	S595P	probably damaging	Het
Yif1b	G	A	7: 28,943,866 (GRCm39)	A115T	probably damaging	Het
Zfp219	C	A	14: 52,245,999 (GRCm39)	R331L	possibly damaging	Het

Other mutations in Wnt10a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0347:Wnt10a	UTSW	1	74,832,702 (GRCm39)	missense	probably damaging	0.97
R2312:Wnt10a	UTSW	1	74,842,589 (GRCm39)	missense	possibly damaging	0.74
R3941:Wnt10a	UTSW	1	74,842,656 (GRCm39)	splice site	probably null
R4683:Wnt10a	UTSW	1	74,842,296 (GRCm39)	missense	unknown
R4719:Wnt10a	UTSW	1	74,842,762 (GRCm39)	missense	probably damaging	1.00
R5218:Wnt10a	UTSW	1	74,832,754 (GRCm39)	missense	probably benign
R5813:Wnt10a	UTSW	1	74,839,755 (GRCm39)	missense	probably damaging	1.00
R6652:Wnt10a	UTSW	1	74,842,613 (GRCm39)	splice site	probably null
R7278:Wnt10a	UTSW	1	74,832,641 (GRCm39)	missense	possibly damaging	0.92
R7637:Wnt10a	UTSW	1	74,832,633 (GRCm39)	nonsense	probably null
R8293:Wnt10a	UTSW	1	74,842,376 (GRCm39)	missense	probably damaging	1.00
R9446:Wnt10a	UTSW	1	74,842,728 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- CAATGGGAGCCGATTTCCAG -3'
(R):5'- CTGCTCTTATTGCACAGGCG -3'

Sequencing Primer
(F):5'- TGGAACACCGGATGCCTTC -3'
(R):5'- ACAGGCGGCCCACAGTG -3'

Posted On

2016-07-06