Mutagenetix > Incidental Mutation

Incidental Mutation 'R4572:Wnt9b'

342215

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

041796-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4572 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

103727364-103749821 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103732155 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 141 (R141C)

Ref Sequence

ENSEMBL: ENSMUSP00000018630 (fasta)

Gene Model

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

AlphaFold

O35468

Predicted Effect

probably damaging
Transcript: ENSMUST00000018630
AA Change: R141C

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

SMART Domains

Protein: ENSMUSP00000018630
Gene: ENSMUSG00000018486
AA Change: R141C

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

0.3010

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (71/71)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,216,548	I747N	probably benign	Het
Adamtsl2	A	G	2: 27,083,256	Y97C	probably damaging	Het
Alox12e	A	G	11: 70,321,181		probably benign	Het
Alpk2	A	T	18: 65,281,004	S2014T	probably damaging	Het
Ankrd36	A	T	11: 5,689,340		probably null	Het
Apobec1	T	C	6: 122,581,397	D133G	probably damaging	Het
Arfgef1	A	T	1: 10,213,141	I181N	probably damaging	Het
C130060K24Rik	A	T	6: 65,454,991	M293L	probably benign	Het
Cilp2	A	G	8: 69,882,410	V646A	probably damaging	Het
Clasrp	A	G	7: 19,584,464		probably null	Het
Cnot2	T	C	10: 116,494,846	T423A	probably benign	Het
Crtap	T	C	9: 114,384,806	D227G	probably benign	Het
Cyp17a1	A	G	19: 46,670,551	F217S	probably damaging	Het
Ddx60	A	G	8: 61,987,421	M1036V	probably damaging	Het
Dnah11	A	T	12: 118,010,125	I2818N	probably benign	Het
Dok6	T	A	18: 89,473,947	I169F	possibly damaging	Het
Duox2	T	A	2: 122,281,726	R1326S	probably benign	Het
Epha10	A	G	4: 124,902,568	T357A	unknown	Het
Ephb2	A	C	4: 136,655,940	F942C	probably damaging	Het
Fscn3	T	A	6: 28,430,635		probably null	Het
Gabrb2	A	G	11: 42,593,917	N267S	possibly damaging	Het
Gabrr3	A	T	16: 59,461,638	Y452F	probably benign	Het
Gen1	A	G	12: 11,242,418	S457P	probably damaging	Het
Gm1993	C	T	X: 25,560,356	R77H	probably damaging	Het
Gm5592	G	A	7: 41,216,159		probably benign	Het
Hmbox1	A	G	14: 64,903,233		probably null	Het
Hus1	A	T	11: 9,007,617		probably null	Het
Ino80	G	A	2: 119,402,358	R1160W	probably damaging	Het
Kalrn	A	T	16: 34,392,042	F27L	probably damaging	Het
Kri1	A	T	9: 21,280,384	F187L	probably damaging	Het
Lekr1	A	T	3: 65,783,915		noncoding transcript	Het
Mapk15	T	C	15: 75,998,750		probably benign	Het
Mrgpre	G	A	7: 143,781,104	L221F	probably damaging	Het
Mrpl50	A	T	4: 49,514,399	S91T	possibly damaging	Het
Muc4	T	C	16: 32,753,802	I1226T	probably benign	Het
Mup15	A	G	4: 61,438,217		probably null	Het
Ncapd3	A	G	9: 27,094,615	D1469G	probably damaging	Het
Nlrp9b	G	A	7: 20,026,681		probably null	Het
Npy6r	A	T	18: 44,275,917	Y135F	probably benign	Het
Olfr862	A	C	9: 19,883,979	C109G	probably benign	Het
Phf14	G	A	6: 12,006,824	R825Q	probably damaging	Het
Pigg	A	G	5: 108,332,885	M379V	probably benign	Het
Plppr3	T	A	10: 79,866,063	Q315L	probably benign	Het
Plxnd1	C	A	6: 115,955,756	C1921F	probably damaging	Het
Ptger4	A	C	15: 5,243,133	S2A	probably benign	Het
Rab4a	A	T	8: 123,834,060	D196V	probably benign	Het
Rbck1	G	A	2: 152,318,733	Q428*	probably null	Het
Rgs14	A	T	13: 55,380,062	N266I	probably damaging	Het
Serpina1c	A	T	12: 103,898,708		probably benign	Het
Sesn3	G	A	9: 14,321,220	R263H	probably benign	Het
Slfn1	A	T	11: 83,121,463	D135V	probably benign	Het
Spata17	T	C	1: 187,193,996	K46E	possibly damaging	Het
Srcin1	A	C	11: 97,534,934	D432E	probably damaging	Het
Stxbp5	T	C	10: 9,838,144	E217G	probably damaging	Het
Terf2ip	A	G	8: 112,012,017	D179G	probably damaging	Het
Tll1	A	G	8: 64,056,309	F556L	possibly damaging	Het
Tmed4	CTCTTTCT	CTCT	11: 6,274,461		probably null	Het
Trappc9	G	T	15: 72,937,067	Q537K	possibly damaging	Het
Trim30a	G	T	7: 104,411,188	C460*	probably null	Het
Trim35	T	C	14: 66,307,873	Y298H	probably damaging	Het
Ugt3a1	T	A	15: 9,306,393	H209Q	probably benign	Het
Ulk4	T	C	9: 121,192,764	K627R	probably damaging	Het
Wnk1	T	C	6: 119,951,911	T1319A	possibly damaging	Het
Zfp735	A	G	11: 73,689,785	M37V	probably benign	Het
Zmym1	A	T	4: 127,050,835	N186K	probably benign	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
R4619:Wnt9b	UTSW	11	103731123	missense	probably benign	0.13
R5239:Wnt9b	UTSW	11	103731228	splice site	probably null
R5260:Wnt9b	UTSW	11	103732049	missense	possibly damaging	0.87
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'- GGGTATTCGCTCACCTTGATGC -3'
(R):5'- ATAGCCTTTAGGAAGCCGGG -3'

Sequencing Primer
(F):5'- ACCTTGATGCCCACGTG -3'
(R):5'- TTAGGCTCACACTGCGTCAAC -3'

Posted On

2015-09-24