Mutagenetix > Incidental Mutation

Incidental Mutation 'R7719:Wnt8a'

595147

Institutional Source

Beutler Lab

Gene Symbol

Wnt8a

Ensembl Gene

ENSMUSG00000012282

Gene Name

wingless-type MMTV integration site family, member 8A

Synonyms

Stra11

MMRRC Submission

045776-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7719 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34675380-34681114 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34680588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 318 (W318R)

Ref Sequence

ENSEMBL: ENSMUSP00000012426 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012426]

AlphaFold

Q64527

Predicted Effect

probably damaging
Transcript: ENSMUST00000012426
AA Change: W318R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000012426
Gene: ENSMUSG00000012282
AA Change: W318R

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
WNT1	21	337	2.26e-155	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (67/68)

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, and may be implicated in development of early embryos as well as germ cell tumors. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	T	A	1: 155,562,758 (GRCm39)	L253H	probably damaging	Het
Adam11	T	C	11: 102,663,303 (GRCm39)	V238A	probably benign	Het
Amer3	A	T	1: 34,628,083 (GRCm39)	H774L	possibly damaging	Het
Anapc15	T	C	7: 101,550,236 (GRCm39)	L150P	unknown	Het
Ano8	G	T	8: 71,935,784 (GRCm39)	T278K	possibly damaging	Het
Atg16l2	T	C	7: 100,939,074 (GRCm39)	K618E	probably damaging	Het
Casz1	C	T	4: 149,028,981 (GRCm39)	S1142L	probably damaging	Het
Ccdc30	T	A	4: 119,190,813 (GRCm39)	E471D	probably damaging	Het
Cks1b	T	C	3: 89,323,635 (GRCm39)	N45D	probably benign	Het
Clasrp	T	C	7: 19,321,769 (GRCm39)	T296A	probably damaging	Het
Cluap1	C	T	16: 3,727,467 (GRCm39)		probably null	Het
Cntn5	T	A	9: 9,704,903 (GRCm39)	D632V	probably damaging	Het
Cntnap3	G	A	13: 64,920,591 (GRCm39)	Q593*	probably null	Het
Col18a1	A	T	10: 76,913,846 (GRCm39)	I457K	probably benign	Het
Crybb3	G	T	5: 113,223,834 (GRCm39)	Q192K	probably damaging	Het
Cyb561d2	C	T	9: 107,417,383 (GRCm39)	A123T	probably benign	Het
Cyp2b13	C	T	7: 25,795,095 (GRCm39)	A442V	probably damaging	Het
Cyp2j9	G	A	4: 96,457,079 (GRCm39)	T464I	probably benign	Het
Cyp4a29	G	A	4: 115,108,137 (GRCm39)	G320R	possibly damaging	Het
Dbp	T	C	7: 45,359,174 (GRCm39)	I283T	probably damaging	Het
Efcab3	T	C	11: 105,002,674 (GRCm39)	I303T	probably benign	Het
Efcab8	T	A	2: 153,629,665 (GRCm39)	V166D		Het
Efhc1	A	T	1: 21,049,744 (GRCm39)	I535F	probably benign	Het
Epb41l3	A	G	17: 69,560,409 (GRCm39)	I319V	possibly damaging	Het
Ewsr1	T	C	11: 5,035,900 (GRCm39)	T193A	unknown	Het
Fam227a	T	C	15: 79,504,913 (GRCm39)	N510S	possibly damaging	Het
Frmpd1	T	C	4: 45,284,841 (GRCm39)	C1221R	possibly damaging	Het
Gm6741	A	C	17: 91,544,472 (GRCm39)	E78D	probably benign	Het
Gpam	C	T	19: 55,070,102 (GRCm39)	V385I	probably damaging	Het
Gpr55	A	G	1: 85,869,059 (GRCm39)	V174A	probably benign	Het
Gsdmc	T	C	15: 63,650,813 (GRCm39)		probably null	Het
Hmcn1	T	A	1: 150,441,080 (GRCm39)	D5509V	possibly damaging	Het
Hoxc13	A	T	15: 102,830,293 (GRCm39)	Q224L	possibly damaging	Het
Hunk	A	G	16: 90,293,554 (GRCm39)	D612G	probably benign	Het
Igsf3	G	A	3: 101,342,857 (GRCm39)	R478H	probably damaging	Het
Itgb5	A	G	16: 33,740,486 (GRCm39)	Q532R	probably benign	Het
Jph1	T	C	1: 17,162,215 (GRCm39)	Y149C	probably damaging	Het
Lztfl1	T	C	9: 123,544,395 (GRCm39)	D33G	probably null	Het
Mex3c	G	T	18: 73,723,061 (GRCm39)	A385S	possibly damaging	Het
Myo5a	T	A	9: 75,051,366 (GRCm39)	S320T	probably benign	Het
Nsun4	A	T	4: 115,909,617 (GRCm39)	N314K	possibly damaging	Het
Omg	T	A	11: 79,393,059 (GRCm39)	E266D	probably benign	Het
Or4b12	A	T	2: 90,096,603 (GRCm39)	M57K	probably damaging	Het
Paqr9	T	A	9: 95,442,829 (GRCm39)	V273E	possibly damaging	Het
Phkg1	G	A	5: 129,902,699 (GRCm39)		probably benign	Het
Plekhm3	T	C	1: 64,960,901 (GRCm39)	K452E	probably benign	Het
Plpbp	T	A	8: 27,535,974 (GRCm39)	I86N		Het
Prl2c1	G	T	13: 28,035,780 (GRCm39)	A51S	probably damaging	Het
Prmt8	A	T	6: 127,706,466 (GRCm39)	H108Q	probably damaging	Het
Prrc2b	T	A	2: 32,107,280 (GRCm39)	C1614*	probably null	Het
Ptpdc1	A	G	13: 48,739,766 (GRCm39)	V555A	probably benign	Het
Rassf9	A	G	10: 102,381,461 (GRCm39)	D281G	probably benign	Het
Resf1	T	C	6: 149,228,853 (GRCm39)	I633T	probably benign	Het
Rmnd1	T	C	10: 4,377,496 (GRCm39)	D61G	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,745,229 (GRCm39)	S2055P	possibly damaging	Het
Six5	G	A	7: 18,830,803 (GRCm39)	A477T	probably damaging	Het
Speg	A	G	1: 75,352,469 (GRCm39)	E129G	probably damaging	Het
Stard10	C	T	7: 100,995,320 (GRCm39)	A78V	not run	Het
Stard3	T	C	11: 98,266,502 (GRCm39)	V127A	probably benign	Het
Svep1	G	A	4: 58,068,523 (GRCm39)	P3088S	probably damaging	Het
Tbck	A	G	3: 132,440,489 (GRCm39)	D508G	probably damaging	Het
Tgm2	T	A	2: 157,985,038 (GRCm39)	T23S	probably damaging	Het
Ttll10	G	T	4: 156,131,665 (GRCm39)		probably null	Het
Vcan	A	T	13: 89,852,738 (GRCm39)	S741T	probably damaging	Het
Vmn2r13	T	C	5: 109,319,618 (GRCm39)	N454S	probably benign	Het
Vmn2r45	T	A	7: 8,486,460 (GRCm39)	E276V	probably damaging	Het
Zer1	A	T	2: 30,001,243 (GRCm39)	L87H	probably damaging	Het
Zfp518a	T	A	19: 40,901,212 (GRCm39)	N380K	probably benign	Het
Zfp90	T	C	8: 107,145,725 (GRCm39)	V19A	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	probably damaging	Het

Other mutations in Wnt8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01592:Wnt8a	APN	18	34,677,846 (GRCm39)	missense	probably damaging	0.98
IGL01823:Wnt8a	APN	18	34,677,846 (GRCm39)	missense	possibly damaging	0.85
IGL02964:Wnt8a	APN	18	34,675,474 (GRCm39)	missense	possibly damaging	0.86
PIT4486001:Wnt8a	UTSW	18	34,680,636 (GRCm39)	missense	probably damaging	1.00
R0496:Wnt8a	UTSW	18	34,677,900 (GRCm39)	missense	probably damaging	1.00
R0646:Wnt8a	UTSW	18	34,680,618 (GRCm39)	missense	probably benign	0.02
R1813:Wnt8a	UTSW	18	34,675,422 (GRCm39)	start codon destroyed	probably null	0.89
R1990:Wnt8a	UTSW	18	34,677,937 (GRCm39)	missense	probably damaging	1.00
R1991:Wnt8a	UTSW	18	34,677,937 (GRCm39)	missense	probably damaging	1.00
R1992:Wnt8a	UTSW	18	34,677,937 (GRCm39)	missense	probably damaging	1.00
R4927:Wnt8a	UTSW	18	34,680,525 (GRCm39)	missense	probably damaging	1.00
R5085:Wnt8a	UTSW	18	34,678,656 (GRCm39)	nonsense	probably null
R6161:Wnt8a	UTSW	18	34,678,599 (GRCm39)	missense	possibly damaging	0.86
R8001:Wnt8a	UTSW	18	34,678,569 (GRCm39)	missense	probably damaging	0.98
R9022:Wnt8a	UTSW	18	34,680,298 (GRCm39)	missense	probably damaging	1.00
R9617:Wnt8a	UTSW	18	34,680,163 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTCCTGACTACTGCAACCG -3'
(R):5'- GATGTCCCAATTGTTTTCCAGTCTG -3'

Sequencing Primer
(F):5'- CGCAACGCCAGCCTGAG -3'
(R):5'- TCCCCTAGGCCAGAAGTTCAG -3'

Posted On

2019-11-12