Mutagenetix > Incidental Mutations

Incidental Mutation 'R5260:Wnt9b'

401393

Institutional Source

Beutler Lab

Gene Symbol

Wnt9b

Ensembl Gene

ENSMUSG00000018486

Gene Name

wingless-type MMTV integration site family, member 9B

Synonyms

Wnt15, Wnt14b, clf, clf1

MMRRC Submission

042829-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5260 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103727364-103749821 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 103732049 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 176 (S176I)

Ref Sequence

ENSEMBL: ENSMUSP00000018630 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018630]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018630
AA Change: S176I

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000018630
Gene: ENSMUSG00000018486
AA Change: S176I

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	44	52	N/A	INTRINSIC
WNT1	58	358	5.38e-98	SMART

Meta Mutation Damage Score

0.1938

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

99% (77/78)

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 that 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. Study of its expression in the teratocarcinoma cell line NT2 suggests that it may be implicated in the early process of neuronal differentiation of NT2 cells induced by retinoic acid. This gene is clustered with WNT3, another family member, in the chromosome 17q21 region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous null mice display neonatal lethality, disrupted ureteric bud branching, impaired Mullerian duct formation, and incompletely penetrant cleft lip and palate. In mice with alleles that decrease expression kidneys are smaller with fewer mature nephrons. [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
2310007B03Rik	A	T	1: 93,159,978	V51E	probably damaging	Het
Abraxas2	A	T	7: 132,859,274	I14F	probably damaging	Het
Acin1	T	C	14: 54,642,822		probably benign	Het
Adamts9	C	A	6: 92,807,137	V1579L	probably benign	Het
Adra2a	T	A	19: 54,046,608	C132S	probably damaging	Het
Aif1	T	A	17: 35,171,941		probably null	Het
Atf5	A	T	7: 44,815,086	Y27*	probably null	Het
Atm	A	G	9: 53,506,611	S799P	probably damaging	Het
Bmp2k	T	G	5: 97,087,351		probably benign	Het
Chaf1a	C	T	17: 56,065,000	H723Y	probably damaging	Het
Clint1	T	C	11: 45,907,942	W493R	probably damaging	Het
Cyb561a3	T	A	19: 10,587,866	V198D	possibly damaging	Het
Cyp2j8	T	C	4: 96,501,064	E174G	possibly damaging	Het
Cyp4v3	C	T	8: 45,306,980	G512S	probably damaging	Het
Dnah8	T	A	17: 30,700,419	V1122D	probably benign	Het
Doc2b	C	A	11: 75,786,163	G128V	probably damaging	Het
Dysf	T	C	6: 84,150,034	V1378A	probably damaging	Het
Efcab5	A	T	11: 77,137,651	S421T	possibly damaging	Het
Efcab6	T	G	15: 83,945,123	D672A	probably benign	Het
Eif2ak3	C	A	6: 70,893,129	H933Q	probably damaging	Het
Erc1	A	T	6: 119,761,159	N574K	probably damaging	Het
Eri2	A	T	7: 119,787,846		probably benign	Het
Faxc	A	G	4: 21,948,744	Y152C	probably damaging	Het
Fbxl7	T	A	15: 26,543,499	Y354F	probably damaging	Het
Fras1	T	A	5: 96,735,187	I2526N	possibly damaging	Het
Gm1966	A	G	7: 106,599,204		noncoding transcript	Het
Gm5424	A	T	10: 62,071,595		noncoding transcript	Het
Gm6728	T	C	6: 136,486,703		noncoding transcript	Het
Golgb1	A	T	16: 36,913,141	S917C	probably benign	Het
Gtpbp3	T	C	8: 71,489,418		probably benign	Het
Gusb	A	T	5: 129,999,988	Y220*	probably null	Het
Hmcn1	A	G	1: 150,595,861	V4914A	possibly damaging	Het
Iars2	C	A	1: 185,323,734	C211F	probably damaging	Het
Kif5b	A	G	18: 6,211,058	L802P	probably damaging	Het
Kif5c	A	G	2: 49,735,590	E624G	probably damaging	Het
Kmt2d	G	T	15: 98,842,860		probably benign	Het
Krt82	C	A	15: 101,548,388	G186C	possibly damaging	Het
Lca5	G	A	9: 83,423,223	R177C	probably damaging	Het
Mier1	T	C	4: 103,162,710	S318P	probably benign	Het
Obscn	A	T	11: 59,003,369	I1207N	probably damaging	Het
Olfr1161	A	C	2: 88,025,474	I251L	probably benign	Het
Olfr1261	A	G	2: 89,994,182	D263G	probably damaging	Het
Olfr1302	A	G	2: 111,781,181	Y287C	probably damaging	Het
Olfr607	A	G	7: 103,460,615	F198L	probably benign	Het
Oog4	C	T	4: 143,437,854	G369D	probably benign	Het
Plec	T	C	15: 76,176,624	T3060A	probably damaging	Het
Plekhh2	C	T	17: 84,577,165	T769I	probably damaging	Het
Prkaa1	A	T	15: 5,160,668	S65C	probably damaging	Het
Psma3	T	C	12: 70,984,642		probably benign	Het
Ptpn18	T	A	1: 34,463,510		probably benign	Het
Ptprv	T	C	1: 135,112,260		noncoding transcript	Het
Rac1	C	A	5: 143,508,131	V104L	probably benign	Het
Serpinb7	A	T	1: 107,434,749	N61I	possibly damaging	Het
Sirt7	A	C	11: 120,620,521		probably benign	Het
Srl	G	A	16: 4,482,895	R333*	probably null	Het
Srprb	A	T	9: 103,201,920	L756Q	probably damaging	Het
Tchhl1	T	C	3: 93,470,795	S269P	probably damaging	Het
Tdo2	C	T	3: 81,975,323		probably null	Het
Teddm1a	T	C	1: 153,891,900	Y37H	probably benign	Het
Tenm3	T	C	8: 48,236,855	Y1899C	probably damaging	Het
Tep1	T	C	14: 50,838,631	T1681A	probably benign	Het
Timm44	G	T	8: 4,275,919		probably null	Het
Trp73	A	G	4: 154,062,602	V322A	possibly damaging	Het
Tsr1	A	C	11: 74,905,955	E611A	probably damaging	Het
Unc80	A	G	1: 66,646,587	N2290S	possibly damaging	Het
Ush2a	T	C	1: 188,947,079	V4828A	possibly damaging	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Zfp329	A	G	7: 12,806,526		probably benign	Het
Zfp352	T	A	4: 90,224,460	V279D	probably damaging	Het
Zfp932	C	T	5: 110,009,635	Q400*	probably null	Het
Zxdc	T	A	6: 90,382,093	L569Q	probably damaging	Het

Other mutations in Wnt9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Wnt9b	APN	11	103732010	missense	probably damaging	1.00
IGL01517:Wnt9b	APN	11	103731081	missense	probably benign	0.13
IGL02348:Wnt9b	APN	11	103732082	missense	probably damaging	1.00
market	UTSW	11	103731228	splice site	probably null
R1711:Wnt9b	UTSW	11	103732128	missense	probably damaging	1.00
R1956:Wnt9b	UTSW	11	103730812	missense	probably damaging	1.00
R4044:Wnt9b	UTSW	11	103731998	missense	probably damaging	1.00
R4572:Wnt9b	UTSW	11	103732155	missense	probably damaging	1.00
R4619:Wnt9b	UTSW	11	103731123	missense	probably benign	0.13
R5239:Wnt9b	UTSW	11	103731228	splice site	probably null
R6962:Wnt9b	UTSW	11	103733689	missense	probably null	0.76
R7428:Wnt9b	UTSW	11	103730817	missense	probably benign	0.05
R8186:Wnt9b	UTSW	11	103730775	missense	probably damaging	0.99
R8693:Wnt9b	UTSW	11	103733661	missense	probably damaging	0.98
Z1177:Wnt9b	UTSW	11	103732037	missense	probably damaging	1.00
Z1177:Wnt9b	UTSW	11	103733650	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TACGCAGAGAAGGTTCACAAC -3'
(R):5'- GCACAGGCTTTAAGGAGACG -3'

Sequencing Primer
(F):5'- TCACAACGGGGTCTGAAGTTCATC -3'
(R):5'- CTTTAAGGAGACGGCCTTCCTG -3'

Posted On

2016-07-06