Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4486001:Wnt8a'

556133

Institutional Source

Beutler Lab

Gene Symbol

Wnt8a

Ensembl Gene

ENSMUSG00000012282

Gene Name

wingless-type MMTV integration site family, member 8A

Synonyms

Stra11

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4486001 (G1)

Quality Score

118.008

Status

Not validated

Chromosome

Chromosomal Location

34675380-34681114 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34680636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 334 (Y334H)

Ref Sequence

ENSEMBL: ENSMUSP00000012426 (fasta)

Gene Model

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

AlphaFold

Q64527

Predicted Effect

probably damaging
Transcript: ENSMUST00000012426
AA Change: Y334H

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

SMART Domains

Protein: ENSMUSP00000012426
Gene: ENSMUSG00000012282
AA Change: Y334H

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

Coding Region Coverage

1x: 93.0%
3x: 90.5%
10x: 84.1%
20x: 70.1%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	C	5: 144,980,914 (GRCm39)	S108P	probably damaging	Het
Abhd16b	A	T	2: 181,135,752 (GRCm39)	Q218L	probably benign	Het
Abhd3	T	A	18: 10,645,233 (GRCm39)	I354F	probably benign	Het
Abt1	T	C	13: 23,607,851 (GRCm39)	Y51C	possibly damaging	Het
Actl9	T	A	17: 33,653,172 (GRCm39)	Y411N	possibly damaging	Het
Ano4	A	G	10: 88,828,891 (GRCm39)	V516A	probably damaging	Het
Bptf	A	T	11: 106,945,614 (GRCm39)	S2542T	probably damaging	Het
Card11	C	T	5: 140,862,163 (GRCm39)	V1045M	probably damaging	Het
Ccdc121	T	A	5: 31,645,087 (GRCm39)	I280K	probably damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Cdh3	A	G	8: 107,268,122 (GRCm39)	K386E	possibly damaging	Het
Cks1b	C	A	3: 89,323,621 (GRCm39)	Q49H	probably damaging	Het
Clpb	A	T	7: 101,313,139 (GRCm39)	D41V	probably benign	Het
Cyp3a11	A	T	5: 145,797,302 (GRCm39)	M359K	probably damaging	Het
Cyp3a13	A	T	5: 137,908,228 (GRCm39)	I207N	probably benign	Het
Dennd4c	T	A	4: 86,717,701 (GRCm39)	L566*	probably null	Het
Dhtkd1	A	T	2: 5,904,806 (GRCm39)	D859E	probably benign	Het
Efcab6	T	C	15: 83,857,514 (GRCm39)	D295G	probably benign	Het
Fcgbp	A	G	7: 27,774,698 (GRCm39)	T91A	possibly damaging	Het
Gm11569	GCAGCTGGGCCTGCAGCAGCTGGAAATGCAGCAGCTAGGACGGCAACA	GCA	11: 99,689,491 (GRCm39)		probably benign	Het
Gsdma3	A	G	11: 98,528,880 (GRCm39)	K454E	unknown	Het
Herc1	T	A	9: 66,279,671 (GRCm39)	I193N	probably damaging	Het
Kdm5b	T	A	1: 134,556,423 (GRCm39)	L1370Q	probably damaging	Het
Lrrc37	A	T	11: 103,509,027 (GRCm39)	H980Q	unknown	Het
Map4	T	G	9: 109,901,682 (GRCm39)	V965G	probably damaging	Het
Mkrn2os	T	C	6: 115,562,444 (GRCm39)	D173G	probably benign	Het
Ndfip2	A	G	14: 105,532,300 (GRCm39)	D232G	probably damaging	Het
Nipal2	C	T	15: 34,584,875 (GRCm39)	G231D	probably damaging	Het
Notch3	A	T	17: 32,373,737 (GRCm39)	N490K	probably damaging	Het
Or5p68	A	G	7: 107,945,529 (GRCm39)	S220P	possibly damaging	Het
Or8g50	T	A	9: 39,648,535 (GRCm39)	C141*	probably null	Het
Prkar2a	T	C	9: 108,610,326 (GRCm39)	L185S	probably damaging	Het
Ptpn9	T	G	9: 56,968,287 (GRCm39)	N542K	probably damaging	Het
Pus10	G	A	11: 23,662,326 (GRCm39)		probably null	Het
Pyroxd2	A	G	19: 42,728,828 (GRCm39)	S191P	probably benign	Het
Rab15	T	A	12: 76,848,716 (GRCm39)	K122*	probably null	Het
Rara	A	G	11: 98,864,321 (GRCm39)	N416S	possibly damaging	Het
Rims2	T	C	15: 39,339,916 (GRCm39)	V870A	possibly damaging	Het
Sec16a	T	C	2: 26,315,785 (GRCm39)	T293A		Het
Slc26a3	G	A	12: 31,520,949 (GRCm39)	D718N	probably benign	Het
Slc44a5	G	A	3: 153,964,659 (GRCm39)	V520I	possibly damaging	Het
Spata31e2	G	A	1: 26,724,410 (GRCm39)	P257S	probably damaging	Het
Tgfb2	A	T	1: 186,422,924 (GRCm39)	Y142N	probably benign	Het
Tgfbi	A	T	13: 56,777,607 (GRCm39)	I364F	probably damaging	Het
Tmem144	A	C	3: 79,734,174 (GRCm39)	D176E	probably benign	Het
Tns4	A	T	11: 98,962,161 (GRCm39)	L612Q	probably damaging	Het
Toe1	A	G	4: 116,663,692 (GRCm39)	L76S	probably damaging	Het
Trank1	T	C	9: 111,219,175 (GRCm39)	F1971L	probably damaging	Het
Tsen54	G	T	11: 115,713,422 (GRCm39)	V481F	probably damaging	Het
Uimc1	A	G	13: 55,223,381 (GRCm39)	L297P	probably damaging	Het
Zfp281	A	G	1: 136,554,741 (GRCm39)	D573G	possibly 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
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
R7719:Wnt8a	UTSW	18	34,680,588 (GRCm39)	missense	probably damaging	1.00
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'- AGCTGATCTTCTTAGAGGGGTCTC -3'
(R):5'- ACCCTGTGATGTCCCAATTG -3'

Sequencing Primer
(F):5'- GGGTCTCCTGACTACTGCAAC -3'
(R):5'- GTGATGTCCCAATTGTTTTCCAG -3'

Posted On

2019-06-07