Mutagenetix > Incidental Mutation

Incidental Mutation 'R1751:Wnt10b'

193549

Institutional Source

Beutler Lab

Gene Symbol

Wnt10b

Ensembl Gene

ENSMUSG00000022996

Gene Name

wingless-type MMTV integration site family, member 10B

Synonyms

Wnt12

MMRRC Submission

039783-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1751 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

98668593-98676031 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98670556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 228 (L228Q)

Ref Sequence

ENSEMBL: ENSMUSP00000154513 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023732] [ENSMUST00000166022] [ENSMUST00000226610] [ENSMUST00000226655] [ENSMUST00000226846] [ENSMUST00000228546] [ENSMUST00000228594]

AlphaFold

P48614

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023732
AA Change: L324Q

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023732
Gene: ENSMUSG00000022996
AA Change: L324Q

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
WNT1	50	389	9.1e-128	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166022
AA Change: L324Q

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131056
Gene: ENSMUSG00000022996
AA Change: L324Q

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
WNT1	50	389	9.1e-128	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226610
AA Change: L324Q

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000226655

Predicted Effect

probably damaging
Transcript: ENSMUST00000226846
AA Change: L228Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228546
AA Change: L106Q

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228594
AA Change: L324Q

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

99% (85/86)

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 may be involved in breast cancer, and its protein signaling is likely a molecular switch that governs adipogenesis. This protein is 96% identical to the mouse Wnt10b protein at the amino acid level. This gene is clustered with another family member, WNT1, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice fed a low- or high-fat diet exhibit accelerated myogenic differentiation of myoblasts and those fed a high-fat diet exhibit excessive lipid accumulation in actively regenerating muscle. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	T	A	8: 43,972,948 (GRCm39)	I685F	probably benign	Het
Alcam	A	T	16: 52,091,077 (GRCm39)	N480K	probably damaging	Het
Arhgef2	A	G	3: 88,551,260 (GRCm39)	Q778R	probably damaging	Het
Ascc3	T	A	10: 50,594,472 (GRCm39)	I1189N	probably damaging	Het
AU040320	G	A	4: 126,734,517 (GRCm39)	G713D	probably damaging	Het
Bank1	G	T	3: 135,940,375 (GRCm39)	R203S	probably benign	Het
Bank1	A	G	3: 135,960,698 (GRCm39)	V53A	probably benign	Het
Cacna1g	T	C	11: 94,350,628 (GRCm39)	S406G	probably benign	Het
Ccdc198	G	A	14: 49,473,341 (GRCm39)	T128I	probably benign	Het
Ccdc40	T	A	11: 119,121,522 (GRCm39)		probably null	Het
Cdc5l	A	T	17: 45,718,731 (GRCm39)	D628E	probably benign	Het
Chd3	G	A	11: 69,244,727 (GRCm39)		probably benign	Het
Clstn3	A	T	6: 124,408,958 (GRCm39)	W860R	probably damaging	Het
Cntn4	G	A	6: 106,595,371 (GRCm39)		probably null	Het
Coq10b	A	G	1: 55,100,513 (GRCm39)	R66G	probably damaging	Het
Cpn2	A	T	16: 30,078,485 (GRCm39)	Y405*	probably null	Het
Cyp2b9	T	C	7: 25,886,100 (GRCm39)	V89A	probably benign	Het
Depdc1a	T	C	3: 159,228,924 (GRCm39)	C559R	probably damaging	Het
Ephx1	C	T	1: 180,822,242 (GRCm39)	G101S	probably damaging	Het
Fam20a	A	T	11: 109,568,664 (GRCm39)	N287K	probably damaging	Het
Flg	A	T	3: 93,187,220 (GRCm39)	Y224F	possibly damaging	Het
Fzd8	C	T	18: 9,213,643 (GRCm39)	R242C	probably damaging	Het
Gart	A	C	16: 91,439,837 (GRCm39)		probably benign	Het
Gm11116	T	C	5: 88,259,311 (GRCm39)		probably benign	Het
Gm5519	T	C	19: 33,802,391 (GRCm39)	Y145H	possibly damaging	Het
Gmeb1	G	A	4: 131,962,198 (GRCm39)	Q154*	probably null	Het
Gnas	T	A	2: 174,139,687 (GRCm39)		probably benign	Het
Greb1	A	G	12: 16,773,439 (GRCm39)		probably benign	Het
Grin3a	A	T	4: 49,844,423 (GRCm39)	V220E	probably damaging	Het
Gstt2	T	C	10: 75,670,098 (GRCm39)	D8G	probably damaging	Het
Gucy2c	A	T	6: 136,725,773 (GRCm39)		probably benign	Het
Igf2r	A	C	17: 12,916,328 (GRCm39)	S1677A	possibly damaging	Het
Jmjd1c	T	C	10: 67,061,469 (GRCm39)	L1274P	probably benign	Het
Krt13	A	C	11: 100,011,926 (GRCm39)	H132Q	possibly damaging	Het
L1td1	T	C	4: 98,625,686 (GRCm39)	V627A	probably benign	Het
Lrp6	A	G	6: 134,441,531 (GRCm39)	L1145S	probably damaging	Het
Lrrn4cl	A	G	19: 8,829,135 (GRCm39)	T38A	probably benign	Het
Ly96	A	G	1: 16,776,399 (GRCm39)	T112A	probably benign	Het
Meltf	G	T	16: 31,702,747 (GRCm39)	C158F	probably damaging	Het
Mycbp2	A	T	14: 103,485,841 (GRCm39)	H1040Q	probably damaging	Het
Nol8	A	T	13: 49,820,884 (GRCm39)	T914S	probably benign	Het
Npas4	G	A	19: 5,038,211 (GRCm39)	P199L	probably benign	Het
Or12d17	A	T	17: 37,777,792 (GRCm39)	M232L	probably benign	Het
Pcdh10	A	T	3: 45,338,612 (GRCm39)	H923L	probably damaging	Het
Pcp4	A	C	16: 96,326,689 (GRCm39)	Q290P	probably damaging	Het
Pdlim1	C	T	19: 40,240,348 (GRCm39)		probably benign	Het
Pias3	T	C	3: 96,608,719 (GRCm39)	S228P	probably damaging	Het
Pign	A	G	1: 105,580,917 (GRCm39)	V154A	probably benign	Het
Pik3c2a	A	C	7: 115,945,471 (GRCm39)	V1445G	probably damaging	Het
Plod3	T	A	5: 137,019,030 (GRCm39)	V305E	possibly damaging	Het
Plxnc1	A	G	10: 94,685,677 (GRCm39)		probably benign	Het
Prkra	G	T	2: 76,477,584 (GRCm39)	H40Q	possibly damaging	Het
Retnlg	A	T	16: 48,693,991 (GRCm39)	D49V	possibly damaging	Het
Rfx2	A	G	17: 57,091,754 (GRCm39)	V313A	probably benign	Het
Robo2	A	G	16: 73,831,912 (GRCm39)	V256A	probably damaging	Het
Rtp1	A	G	16: 23,250,124 (GRCm39)	E163G	probably damaging	Het
Sbpl	A	G	17: 24,173,777 (GRCm39)		probably null	Het
Scg3	G	A	9: 75,576,622 (GRCm39)	T251M	probably damaging	Het
Setbp1	T	C	18: 78,900,613 (GRCm39)	D1018G	probably damaging	Het
Slc38a11	T	A	2: 65,180,452 (GRCm39)	I182F	probably benign	Het
Slc6a20a	T	A	9: 123,466,165 (GRCm39)	I522F	probably damaging	Het
Smarca2	T	C	19: 26,617,780 (GRCm39)		probably benign	Het
Ssbp3	G	T	4: 106,904,612 (GRCm39)	D336Y	probably damaging	Het
Stox1	T	C	10: 62,495,445 (GRCm39)	T943A	probably damaging	Het
Sun2	A	G	15: 79,609,758 (GRCm39)	S694P	probably benign	Het
Tdp1	G	A	12: 99,857,602 (GRCm39)		probably null	Het
Tfap2a	A	T	13: 40,878,613 (GRCm39)	I204N	probably damaging	Het
Tfip11	T	A	5: 112,482,298 (GRCm39)	W519R	probably damaging	Het
Tie1	T	C	4: 118,333,373 (GRCm39)	E831G	possibly damaging	Het
Tln2	C	T	9: 67,193,796 (GRCm39)	A1773T	probably benign	Het
Tmem39b	A	C	4: 129,586,976 (GRCm39)	I78M	possibly damaging	Het
Trank1	T	C	9: 111,220,547 (GRCm39)	V2428A	probably benign	Het
Trim35	A	G	14: 66,541,617 (GRCm39)	E247G	probably damaging	Het
Trpc7	T	A	13: 56,923,956 (GRCm39)	D743V	probably damaging	Het
Trrap	T	C	5: 144,751,385 (GRCm39)		probably null	Het
Tsc1	A	G	2: 28,566,038 (GRCm39)	I485V	probably damaging	Het
Tsc22d1	T	C	14: 76,655,542 (GRCm39)	S674P	probably damaging	Het
Tsn	A	T	1: 118,228,618 (GRCm39)	D201E	probably damaging	Het
Tsr3	T	C	17: 25,461,613 (GRCm39)	I317T	possibly damaging	Het
Tubb1	A	G	2: 174,298,689 (GRCm39)	S124G	probably benign	Het
Vmn1r192	A	G	13: 22,371,441 (GRCm39)	S260P	probably benign	Het
Vmn2r108	A	T	17: 20,682,786 (GRCm39)	V806E	probably damaging	Het
Zfp108	C	A	7: 23,961,321 (GRCm39)	H637Q	probably damaging	Het

Other mutations in Wnt10b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Wnt10b	APN	15	98,674,826 (GRCm39)	utr 5 prime	probably benign
R0555:Wnt10b	UTSW	15	98,670,818 (GRCm39)	splice site	probably benign
R1747:Wnt10b	UTSW	15	98,672,214 (GRCm39)	missense	probably benign	0.00
R1767:Wnt10b	UTSW	15	98,670,556 (GRCm39)	missense	probably damaging	0.99
R2272:Wnt10b	UTSW	15	98,672,228 (GRCm39)	missense	probably damaging	0.99
R2282:Wnt10b	UTSW	15	98,672,102 (GRCm39)	missense	probably damaging	0.99
R3911:Wnt10b	UTSW	15	98,672,219 (GRCm39)	missense	possibly damaging	0.53
R4997:Wnt10b	UTSW	15	98,672,084 (GRCm39)	missense	probably damaging	0.99
R5226:Wnt10b	UTSW	15	98,674,495 (GRCm39)	missense	probably damaging	1.00
R7514:Wnt10b	UTSW	15	98,672,045 (GRCm39)	missense	probably benign	0.28
R8516:Wnt10b	UTSW	15	98,670,761 (GRCm39)	missense	probably damaging	0.99
R9551:Wnt10b	UTSW	15	98,670,713 (GRCm39)	missense	probably damaging	1.00
R9552:Wnt10b	UTSW	15	98,670,713 (GRCm39)	missense	probably damaging	1.00
R9617:Wnt10b	UTSW	15	98,674,609 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCTCGTTACAGATTTCACCTGACCC -3'
(R):5'- CTGAAGCGGAAGTGCAAATGCC -3'

Sequencing Primer
(F):5'- AGGCAGATGCTCTGAGCTTC -3'
(R):5'- CCAATTCAAGACCTGTTGGAG -3'

Posted On

2014-05-23