Mutagenetix > Incidental Mutation

Incidental Mutation 'R5218:Wnt10a'

403577

Institutional Source

Beutler Lab

Gene Symbol

Wnt10a

Ensembl Gene

ENSMUSG00000026167

Gene Name

wingless-type MMTV integration site family, member 10A

Synonyms

MMRRC Submission

042791-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5218 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74831178-74843335 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74832754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 116 (V116I)

Ref Sequence

ENSEMBL: ENSMUSP00000006718 (fasta)

Gene Model

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

AlphaFold

P70701

Predicted Effect

probably benign
Transcript: ENSMUST00000006718
AA Change: V116I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000006718
Gene: ENSMUSG00000026167
AA Change: V116I

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

Predicted Effect

unknown
Transcript: ENSMUST00000187238
AA Change: V78I

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (60/60)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,629,628 (GRCm39)	N230K	possibly damaging	Het
4933428M09Rik	G	T	X: 138,080,282 (GRCm39)	G16*	probably null	Het
Albfm1	A	G	5: 90,729,777 (GRCm39)	K400R	probably benign	Het
Amigo1	A	G	3: 108,095,086 (GRCm39)		probably null	Het
Arhgap30	A	T	1: 171,236,328 (GRCm39)	T901S	probably benign	Het
Arpp21	T	C	9: 111,972,499 (GRCm39)	D264G	probably damaging	Het
Ccbe1	C	T	18: 66,216,229 (GRCm39)	G165S	probably damaging	Het
Celsr1	T	C	15: 85,816,585 (GRCm39)	D1786G	probably damaging	Het
Cntn1	T	C	15: 92,237,430 (GRCm39)	L1008P	unknown	Het
Dclk2	T	A	3: 86,712,985 (GRCm39)	D489V	probably damaging	Het
Dip2b	T	A	15: 100,052,177 (GRCm39)	D259E	probably benign	Het
Disp3	T	C	4: 148,327,333 (GRCm39)	S1184G	possibly damaging	Het
Dync1li2	C	T	8: 105,169,179 (GRCm39)	W36*	probably null	Het
Ece2	A	T	16: 20,437,290 (GRCm39)	M211L	probably benign	Het
Edn3	C	T	2: 174,603,345 (GRCm39)	A31V	probably benign	Het
Enpp2	T	C	15: 54,750,982 (GRCm39)	Q266R	possibly damaging	Het
Fabp1	C	A	6: 71,176,944 (GRCm39)	Q12K	probably damaging	Het
Flt1	G	A	5: 147,618,738 (GRCm39)	T199M	probably damaging	Het
Galns	T	A	8: 123,325,328 (GRCm39)	I275F	probably damaging	Het
Gapvd1	T	C	2: 34,618,488 (GRCm39)	D295G	probably benign	Het
Gatb	A	G	3: 85,511,751 (GRCm39)	I169V	probably benign	Het
Gpd1	T	A	15: 99,618,011 (GRCm39)	I109N	probably damaging	Het
Gps2	T	C	11: 69,807,121 (GRCm39)		probably null	Het
Hsd17b12	T	C	2: 93,913,608 (GRCm39)	N99D	probably benign	Het
Itga3	A	T	11: 94,953,574 (GRCm39)	V256E	probably benign	Het
Kcnma1	T	A	14: 23,513,253 (GRCm39)	Y527F	probably damaging	Het
Lamc1	C	A	1: 153,103,442 (GRCm39)	V1375L	probably damaging	Het
Lrp1	C	A	10: 127,384,488 (GRCm39)	E3580D	probably damaging	Het
Ltbp4	AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC	AATTCAGGCCTAGGCTGGGATTCAGGC	7: 27,026,736 (GRCm39)		probably benign	Het
Medag	A	T	5: 149,345,719 (GRCm39)		probably benign	Het
Ncdn	C	A	4: 126,644,603 (GRCm39)	R73L	probably benign	Het
Nr4a1	T	C	15: 101,170,034 (GRCm39)	V339A	probably benign	Het
Ocln	G	T	13: 100,642,822 (GRCm39)	P420Q	probably damaging	Het
Or5ac24	A	T	16: 59,165,270 (GRCm39)	S265T	probably benign	Het
Pank4	C	T	4: 155,064,185 (GRCm39)	T681I	probably benign	Het
Pcdhb6	T	A	18: 37,467,388 (GRCm39)	V103E	possibly damaging	Het
Pcsk6	T	C	7: 65,675,036 (GRCm39)	F469S	probably benign	Het
Phrf1	A	G	7: 140,841,214 (GRCm39)	N1353S	possibly damaging	Het
Pou6f2	A	G	13: 18,326,586 (GRCm39)	I72T	probably damaging	Het
Ppig	T	C	2: 69,563,127 (GRCm39)		probably benign	Het
Ptprh	T	C	7: 4,600,919 (GRCm39)	S153G	probably benign	Het
Rab11b	T	C	17: 33,967,924 (GRCm39)	N91S	probably benign	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Slc2a9	A	G	5: 38,610,524 (GRCm39)	S92P	probably damaging	Het
Slit3	G	A	11: 35,575,002 (GRCm39)		probably null	Het
Sox5	T	C	6: 143,906,616 (GRCm39)	I280V	possibly damaging	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Tdrd9	C	T	12: 112,029,909 (GRCm39)		probably benign	Het
Tmem273	T	A	14: 32,538,793 (GRCm39)		probably null	Het
Tmem74	A	T	15: 43,730,640 (GRCm39)	N134K	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Txnl1	T	G	18: 63,812,538 (GRCm39)	K85N	probably benign	Het
Vmn2r77	T	A	7: 86,451,341 (GRCm39)	M409K	probably damaging	Het
Wipf1	T	C	2: 73,274,812 (GRCm39)	D53G	probably damaging	Het
Xpot	T	A	10: 121,455,043 (GRCm39)	D33V	probably damaging	Het
Znrf3	C	T	11: 5,231,519 (GRCm39)	V665M	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
R5244:Wnt10a	UTSW	1	74,842,454 (GRCm39)	missense	probably damaging	0.99
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'- CACAGTGTGCCTGACATTGC -3'
(R):5'- TCTAGTTCTCAGGCATGGAAC -3'

Sequencing Primer
(F):5'- TGACATTGCCCGGCCTGAG -3'
(R):5'- AATGATTCTGACCCCACTCGG -3'

Posted On

2016-07-22