Mutagenetix > Incidental Mutation

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

clf1, Wnt15, clf, Wnt14b

MMRRC Submission

042829-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5260 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103618190-103640647 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 103622875 bp (GRCm39)

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]

AlphaFold

O35468

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
Abraxas2	A	T	7: 132,461,003 (GRCm39)	I14F	probably damaging	Het
Acin1	T	C	14: 54,880,279 (GRCm39)		probably benign	Het
Adamts9	C	A	6: 92,784,118 (GRCm39)	V1579L	probably benign	Het
Adra2a	T	A	19: 54,035,039 (GRCm39)	C132S	probably damaging	Het
Aif1	T	A	17: 35,390,917 (GRCm39)		probably null	Het
Atf5	A	T	7: 44,464,510 (GRCm39)	Y27*	probably null	Het
Atm	A	G	9: 53,417,911 (GRCm39)	S799P	probably damaging	Het
Bmp2k	T	G	5: 97,235,210 (GRCm39)		probably benign	Het
Chaf1a	C	T	17: 56,372,000 (GRCm39)	H723Y	probably damaging	Het
Clint1	T	C	11: 45,798,769 (GRCm39)	W493R	probably damaging	Het
Cyb561a3	T	A	19: 10,565,230 (GRCm39)	V198D	possibly damaging	Het
Cyp2j8	T	C	4: 96,389,301 (GRCm39)	E174G	possibly damaging	Het
Cyp4v3	C	T	8: 45,760,017 (GRCm39)	G512S	probably damaging	Het
Dnah8	T	A	17: 30,919,393 (GRCm39)	V1122D	probably benign	Het
Doc2b	C	A	11: 75,676,989 (GRCm39)	G128V	probably damaging	Het
Dysf	T	C	6: 84,127,016 (GRCm39)	V1378A	probably damaging	Het
Efcab5	A	T	11: 77,028,477 (GRCm39)	S421T	possibly damaging	Het
Efcab6	T	G	15: 83,829,324 (GRCm39)	D672A	probably benign	Het
Eif2ak3	C	A	6: 70,870,113 (GRCm39)	H933Q	probably damaging	Het
Erc1	A	T	6: 119,738,120 (GRCm39)	N574K	probably damaging	Het
Eri2	A	T	7: 119,387,069 (GRCm39)		probably benign	Het
Faxc	A	G	4: 21,948,744 (GRCm39)	Y152C	probably damaging	Het
Fbxl7	T	A	15: 26,543,585 (GRCm39)	Y354F	probably damaging	Het
Fras1	T	A	5: 96,883,046 (GRCm39)	I2526N	possibly damaging	Het
Gm5424	A	T	10: 61,907,374 (GRCm39)		noncoding transcript	Het
Gm6728	T	C	6: 136,463,701 (GRCm39)		noncoding transcript	Het
Golgb1	A	T	16: 36,733,503 (GRCm39)	S917C	probably benign	Het
Gtpbp3	T	C	8: 71,942,062 (GRCm39)		probably benign	Het
Gusb	A	T	5: 130,028,829 (GRCm39)	Y220*	probably null	Het
Gvin3	A	G	7: 106,198,411 (GRCm39)		noncoding transcript	Het
Hmcn1	A	G	1: 150,471,612 (GRCm39)	V4914A	possibly damaging	Het
Iars2	C	A	1: 185,055,931 (GRCm39)	C211F	probably damaging	Het
Kif5b	A	G	18: 6,211,058 (GRCm39)	L802P	probably damaging	Het
Kif5c	A	G	2: 49,625,602 (GRCm39)	E624G	probably damaging	Het
Kmt2d	G	T	15: 98,740,741 (GRCm39)		probably benign	Het
Krt82	C	A	15: 101,456,823 (GRCm39)	G186C	possibly damaging	Het
Lca5	G	A	9: 83,305,276 (GRCm39)	R177C	probably damaging	Het
Mab21l4	A	T	1: 93,087,700 (GRCm39)	V51E	probably damaging	Het
Mier1	T	C	4: 103,019,907 (GRCm39)	S318P	probably benign	Het
Obscn	A	T	11: 58,894,195 (GRCm39)	I1207N	probably damaging	Het
Oog4	C	T	4: 143,164,424 (GRCm39)	G369D	probably benign	Het
Or4c126	A	G	2: 89,824,526 (GRCm39)	D263G	probably damaging	Het
Or4k52	A	G	2: 111,611,526 (GRCm39)	Y287C	probably damaging	Het
Or52d13	A	G	7: 103,109,822 (GRCm39)	F198L	probably benign	Het
Or5d35	A	C	2: 87,855,818 (GRCm39)	I251L	probably benign	Het
Plec	T	C	15: 76,060,824 (GRCm39)	T3060A	probably damaging	Het
Plekhh2	C	T	17: 84,884,593 (GRCm39)	T769I	probably damaging	Het
Prkaa1	A	T	15: 5,190,149 (GRCm39)	S65C	probably damaging	Het
Psma3	T	C	12: 71,031,416 (GRCm39)		probably benign	Het
Ptpn18	T	A	1: 34,502,591 (GRCm39)		probably benign	Het
Ptprv	T	C	1: 135,039,998 (GRCm39)		noncoding transcript	Het
Rac1	C	A	5: 143,493,886 (GRCm39)	V104L	probably benign	Het
Serpinb7	A	T	1: 107,362,479 (GRCm39)	N61I	possibly damaging	Het
Sirt7	A	C	11: 120,511,347 (GRCm39)		probably benign	Het
Srl	G	A	16: 4,300,759 (GRCm39)	R333*	probably null	Het
Srprb	A	T	9: 103,079,119 (GRCm39)	L756Q	probably damaging	Het
Tchhl1	T	C	3: 93,378,102 (GRCm39)	S269P	probably damaging	Het
Tdo2	C	T	3: 81,882,630 (GRCm39)		probably null	Het
Teddm1a	T	C	1: 153,767,646 (GRCm39)	Y37H	probably benign	Het
Tenm3	T	C	8: 48,689,890 (GRCm39)	Y1899C	probably damaging	Het
Tep1	T	C	14: 51,076,088 (GRCm39)	T1681A	probably benign	Het
Timm44	G	T	8: 4,325,919 (GRCm39)		probably null	Het
Trp73	A	G	4: 154,147,059 (GRCm39)	V322A	possibly damaging	Het
Tsr1	A	C	11: 74,796,781 (GRCm39)	E611A	probably damaging	Het
Unc80	A	G	1: 66,685,746 (GRCm39)	N2290S	possibly damaging	Het
Ush2a	T	C	1: 188,679,276 (GRCm39)	V4828A	possibly damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Zfp329	A	G	7: 12,540,453 (GRCm39)		probably benign	Het
Zfp352	T	A	4: 90,112,697 (GRCm39)	V279D	probably damaging	Het
Zfp932	C	T	5: 110,157,501 (GRCm39)	Q400*	probably null	Het
Zxdc	T	A	6: 90,359,075 (GRCm39)	L569Q	probably damaging	Het

Other mutations in Wnt9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Wnt9b	APN	11	103,622,836 (GRCm39)	missense	probably damaging	1.00
IGL01517:Wnt9b	APN	11	103,621,907 (GRCm39)	missense	probably benign	0.13
IGL02348:Wnt9b	APN	11	103,622,908 (GRCm39)	missense	probably damaging	1.00
market	UTSW	11	103,622,054 (GRCm39)	splice site	probably null
R1711:Wnt9b	UTSW	11	103,622,954 (GRCm39)	missense	probably damaging	1.00
R1956:Wnt9b	UTSW	11	103,621,638 (GRCm39)	missense	probably damaging	1.00
R4044:Wnt9b	UTSW	11	103,622,824 (GRCm39)	missense	probably damaging	1.00
R4572:Wnt9b	UTSW	11	103,622,981 (GRCm39)	missense	probably damaging	1.00
R4619:Wnt9b	UTSW	11	103,621,949 (GRCm39)	missense	probably benign	0.13
R5239:Wnt9b	UTSW	11	103,622,054 (GRCm39)	splice site	probably null
R6962:Wnt9b	UTSW	11	103,624,515 (GRCm39)	missense	probably null	0.76
R7428:Wnt9b	UTSW	11	103,621,643 (GRCm39)	missense	probably benign	0.05
R8186:Wnt9b	UTSW	11	103,621,601 (GRCm39)	missense	probably damaging	0.99
R8693:Wnt9b	UTSW	11	103,624,487 (GRCm39)	missense	probably damaging	0.98
Z1177:Wnt9b	UTSW	11	103,624,476 (GRCm39)	nonsense	probably null
Z1177:Wnt9b	UTSW	11	103,622,863 (GRCm39)	missense	probably damaging	1.00

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