Mutagenetix > Incidental Mutation

Incidental Mutation 'R9551:Wnt10b'

720512

Institutional Source

Beutler Lab

Gene Symbol

Wnt10b

Ensembl Gene

ENSMUSG00000022996

Gene Name

wingless-type MMTV integration site family, member 10B

Synonyms

Wnt12

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9551 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98668593-98676031 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 98670713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 272 (G272W)

Ref Sequence

ENSEMBL: ENSMUSP00000131056 (fasta)

Gene Model

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

AlphaFold

P48614

Predicted Effect

probably damaging
Transcript: ENSMUST00000023732
AA Change: G272W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023732
Gene: ENSMUSG00000022996
AA Change: G272W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000166022
AA Change: G272W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131056
Gene: ENSMUSG00000022996
AA Change: G272W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000226610
AA Change: G272W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000226655

Predicted Effect

probably damaging
Transcript: ENSMUST00000226846
AA Change: G176W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000228546
AA Change: G54W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000228594
AA Change: G272W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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. 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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Birc6	T	A	17: 74,916,064 (GRCm39)	L1660Q	probably benign	Het
Blvrb	A	G	7: 27,158,786 (GRCm39)	D62G	probably benign	Het
Ccdc68	T	A	18: 70,089,113 (GRCm39)	S219T	probably damaging	Het
Cep120	C	A	18: 53,819,033 (GRCm39)	R886L	possibly damaging	Het
Cep290	T	C	10: 100,372,729 (GRCm39)	S1176P	probably damaging	Het
Cnbp	A	G	6: 87,822,108 (GRCm39)	Y139H	probably damaging	Het
Csmd3	T	A	15: 48,655,356 (GRCm39)		probably benign	Het
Cyp2c66	T	C	19: 39,172,246 (GRCm39)	V387A	probably damaging	Het
Dab2ip	T	A	2: 35,605,330 (GRCm39)	C504S	possibly damaging	Het
Depdc7	C	T	2: 104,553,220 (GRCm39)		probably null	Het
Edrf1	A	G	7: 133,240,742 (GRCm39)	D73G	probably damaging	Het
Elp3	T	C	14: 65,797,634 (GRCm39)	I365V	probably benign	Het
Erbb4	G	A	1: 68,779,642 (GRCm39)	Q45*	probably null	Het
Fam124a	T	G	14: 62,843,988 (GRCm39)	S499A	possibly damaging	Het
Has2	T	C	15: 56,531,090 (GRCm39)	K542E	probably benign	Het
Hnrnpk	A	G	13: 58,544,058 (GRCm39)	S116P	probably benign	Het
Hs3st6	T	C	17: 24,977,228 (GRCm39)	L236P	probably damaging	Het
Il15	T	A	8: 83,061,177 (GRCm39)	H100L	probably benign	Het
Kif14	C	A	1: 136,455,219 (GRCm39)	S1630R	probably damaging	Het
Madd	T	C	2: 91,000,434 (GRCm39)	T544A	probably damaging	Het
Mamdc4	T	C	2: 25,460,035 (GRCm39)	D76G	probably damaging	Het
Mark2	G	T	19: 7,263,263 (GRCm39)	T201N	possibly damaging	Het
Mfsd9	T	C	1: 40,813,152 (GRCm39)	T388A	probably damaging	Het
Mgst3	T	C	1: 167,205,871 (GRCm39)	Y36C	probably damaging	Het
Myh11	T	A	16: 14,064,673 (GRCm39)	E215V		Het
Nmd3	T	C	3: 69,647,329 (GRCm39)	V277A	possibly damaging	Het
Or11g1	C	T	14: 50,651,625 (GRCm39)	S208F	probably benign	Het
Or2y14	C	T	11: 49,404,942 (GRCm39)	T159I	probably damaging	Het
Or6k4	A	T	1: 173,964,885 (GRCm39)	T192S	probably benign	Het
Pbx1	T	C	1: 168,258,910 (GRCm39)	D55G	possibly damaging	Het
Pdzrn3	T	C	6: 101,127,855 (GRCm39)	D937G	probably damaging	Het
Phb1	G	A	11: 95,562,257 (GRCm39)	V45I	probably benign	Het
Pi4ka	T	C	16: 17,125,574 (GRCm39)	E1187G		Het
Piezo2	T	C	18: 63,166,033 (GRCm39)	E2066G	possibly damaging	Het
Pkn2	T	C	3: 142,499,594 (GRCm39)	D977G	probably damaging	Het
Polr1b	C	T	2: 128,957,684 (GRCm39)	R580*	probably null	Het
Pyroxd2	A	G	19: 42,719,756 (GRCm39)		probably null	Het
Rpain	T	C	11: 70,865,816 (GRCm39)	S194P	probably damaging	Het
Scaf1	A	G	7: 44,658,351 (GRCm39)	L176P	probably damaging	Het
Scgb1b12	C	A	7: 32,033,974 (GRCm39)	A78E	probably benign	Het
Scgb2b19	A	G	7: 32,979,198 (GRCm39)	F28S	probably damaging	Het
Setx	T	C	2: 29,020,244 (GRCm39)	M77T	possibly damaging	Het
Skint5	C	T	4: 113,798,052 (GRCm39)	C177Y	possibly damaging	Het
Slco6c1	T	C	1: 97,055,827 (GRCm39)	S25G	probably benign	Het
Sorbs1	G	A	19: 40,361,923 (GRCm39)	R154*	probably null	Het
Ssb	T	A	2: 69,696,982 (GRCm39)	D107E	probably benign	Het
Tcerg1l	T	C	7: 137,995,998 (GRCm39)	D170G	possibly damaging	Het
Tle5	T	C	10: 81,399,988 (GRCm39)	V62A	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmco4	G	A	4: 138,779,895 (GRCm39)	V447M	probably damaging	Het
Trf	C	T	9: 103,099,283 (GRCm39)	V339I	probably benign	Het
Ucp1	T	C	8: 84,024,509 (GRCm39)	L278P	probably damaging	Het
Vmn1r82	A	G	7: 12,039,600 (GRCm39)	N291S	possibly damaging	Het
Vmn1r86	A	T	7: 12,836,781 (GRCm39)	Y32N	possibly damaging	Het
Xpo4	A	G	14: 57,828,512 (GRCm39)	F783L	possibly damaging	Het
Yipf4	T	C	17: 74,806,024 (GRCm39)	F221S	probably damaging	Het
Zfp1005	C	A	2: 150,109,856 (GRCm39)	T182K	unknown	Het
Zfp512	G	A	5: 31,623,676 (GRCm39)	C14Y	probably benign	Het
Zfp595	A	T	13: 67,465,067 (GRCm39)	S402T	probably damaging	Het
Zfp658	G	T	7: 43,222,567 (GRCm39)	V281F	probably benign	Het
Zfp827	T	G	8: 79,787,403 (GRCm39)	W190G	probably damaging	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	probably benign	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
R1751:Wnt10b	UTSW	15	98,670,556 (GRCm39)	missense	probably damaging	0.99
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
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'- GCACATAACAGCACCAGTGG -3'
(R):5'- TCCTTGTGAGCTAGTGATCAAAG -3'

Sequencing Primer
(F):5'- TCTTGTTGCAAGCCCGG -3'
(R):5'- TGTGAGCTAGTGATCAAAGTAAATGC -3'

Posted On

2022-08-09