Mutagenetix > Incidental Mutation

Incidental Mutation 'R4571:Wnt9a'

342150

Institutional Source

Beutler Lab

Gene Symbol

Wnt9a

Ensembl Gene

ENSMUSG00000000126

Gene Name

wingless-type MMTV integration site family, member 9A

Synonyms

Wnt14

MMRRC Submission

041795-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4571 (G1)

Quality Score

194

Status

Validated

Chromosome

Chromosomal Location

59197754-59224378 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59222163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 354 (C354R)

Ref Sequence

ENSEMBL: ENSMUSP00000104411 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000128] [ENSMUST00000108783]

AlphaFold

Q8R5M2

Predicted Effect

probably damaging
Transcript: ENSMUST00000000128
AA Change: C354R

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

SMART Domains

Protein: ENSMUSP00000000128
Gene: ENSMUSG00000000126
AA Change: C354R

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
low complexity region	37	52	N/A	INTRINSIC
WNT1	59	364	5.57e-82	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108783
AA Change: C354R

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

SMART Domains

Protein: ENSMUSP00000104411
Gene: ENSMUSG00000000126
AA Change: C354R

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
low complexity region	37	52	N/A	INTRINSIC
WNT1	59	364	8.97e-86	SMART

Meta Mutation Damage Score

0.9667

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (69/69)

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. It is expressed in gastric cancer cell lines. The protein encoded by this gene shows 75% amino acid identity to chicken Wnt14, which has been shown to play a central role in initiating synovial joint formation in the chick limb. This gene is clustered with another family member, WNT3A, in the chromosome 1q42 region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene results in neonatal lethality, altered chondrocyte maturation, cranial defects, and skeletal abnormalities including shortened appendicular long bones, partial joint fusions of carpal and tarsal elements, and chondroid metaplasia in synovial and fibrous joints. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,920,884 (GRCm39)	C1497S	probably damaging	Het
Acoxl	G	T	2: 127,719,727 (GRCm39)	G163W	probably damaging	Het
Apbb1	T	A	7: 105,222,969 (GRCm39)	N214I	probably damaging	Het
Apol7b	T	C	15: 77,307,734 (GRCm39)	K254E	probably benign	Het
Arl4d	T	A	11: 101,557,969 (GRCm39)	V165E	possibly damaging	Het
Brca1	C	A	11: 101,408,192 (GRCm39)	R1377L	probably benign	Het
Btf3	A	G	13: 98,449,792 (GRCm39)	F65L	probably benign	Het
C2	T	C	17: 35,082,635 (GRCm39)	N495D	probably benign	Het
Cacna1c	T	C	6: 118,607,341 (GRCm39)	T1188A	probably benign	Het
Chd7	C	A	4: 8,866,217 (GRCm39)	D796E	probably benign	Het
Clasp2	G	T	9: 113,676,789 (GRCm39)	L173F	probably damaging	Het
Clec4g	A	T	8: 3,768,766 (GRCm39)		probably null	Het
Col9a3	T	C	2: 180,258,159 (GRCm39)		probably benign	Het
Csmd2	T	A	4: 128,373,888 (GRCm39)		probably null	Het
Ddx11	T	C	17: 66,437,768 (GRCm39)	C165R	probably benign	Het
Dnah7c	A	C	1: 46,572,376 (GRCm39)	M950L	probably damaging	Het
Dusp23	A	C	1: 172,460,181 (GRCm39)		probably null	Het
Ebag9	A	T	15: 44,500,158 (GRCm39)		probably null	Het
Edn3	G	A	2: 174,623,697 (GRCm39)	A211T	probably benign	Het
Eif3e	G	A	15: 43,129,558 (GRCm39)	T190I	possibly damaging	Het
Fam76a	T	C	4: 132,648,208 (GRCm39)	H3R	possibly damaging	Het
Gabbr1	G	T	17: 37,365,128 (GRCm39)	E138*	probably null	Het
Galc	T	C	12: 98,188,876 (GRCm39)	T412A	probably benign	Het
Gimap3	T	C	6: 48,742,654 (GRCm39)	D92G	possibly damaging	Het
Gin1	T	C	1: 97,712,801 (GRCm39)	Y285H	probably damaging	Het
Gm4868	A	G	5: 125,925,782 (GRCm39)		noncoding transcript	Het
Gm7052	T	A	17: 22,259,405 (GRCm39)		probably benign	Het
Gpcpd1	T	A	2: 132,392,270 (GRCm39)	E226D	probably benign	Het
Hoxb4	T	C	11: 96,209,992 (GRCm39)	S133P	possibly damaging	Het
Hrg	C	T	16: 22,779,972 (GRCm39)		probably benign	Het
Insrr	A	G	3: 87,708,194 (GRCm39)	K212R	probably benign	Het
Ipp	A	G	4: 116,387,655 (GRCm39)	D411G	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnq3	A	G	15: 65,902,461 (GRCm39)	F172L	probably damaging	Het
Kdm5d	T	C	Y: 927,110 (GRCm39)	F616S	probably damaging	Het
Lars1	T	C	18: 42,361,295 (GRCm39)		probably null	Het
Lmo7	G	T	14: 102,125,030 (GRCm39)	Q496H	probably damaging	Het
Map3k9	C	A	12: 81,780,865 (GRCm39)	A432S	probably benign	Het
Nop2	T	G	6: 125,117,844 (GRCm39)		probably null	Het
Nup50l	T	A	6: 96,141,862 (GRCm39)	N394I	probably damaging	Het
Or10ag53	C	A	2: 87,082,802 (GRCm39)	Q174K	possibly damaging	Het
Or2h2	T	C	17: 37,396,471 (GRCm39)	I195M	probably damaging	Het
Or5m11b	A	T	2: 85,806,175 (GRCm39)	E196V	probably damaging	Het
Or6k2	A	T	1: 173,986,494 (GRCm39)	N52Y	possibly damaging	Het
Pan2	A	G	10: 128,144,512 (GRCm39)	T187A	probably benign	Het
Pcmtd2	A	G	2: 181,484,217 (GRCm39)	E9G	possibly damaging	Het
Pik3cb	T	A	9: 98,972,310 (GRCm39)	I283F	possibly damaging	Het
Pkhd1	G	A	1: 20,683,633 (GRCm39)	T40I	probably damaging	Het
Plxna2	T	C	1: 194,493,296 (GRCm39)	V1857A	possibly damaging	Het
Polg	T	C	7: 79,110,127 (GRCm39)	S334G	probably damaging	Het
Rem2	T	C	14: 54,715,116 (GRCm39)	S98P	probably damaging	Het
Rpl5-ps2	G	T	2: 154,546,156 (GRCm39)		noncoding transcript	Het
Slc6a18	A	T	13: 73,814,489 (GRCm39)	N468K	possibly damaging	Het
Slco4a1	A	T	2: 180,106,171 (GRCm39)	T118S	probably benign	Het
Smg1	A	T	7: 117,738,688 (GRCm39)	N3520K	possibly damaging	Het
Tapbp	C	A	17: 34,145,427 (GRCm39)	D415E	probably damaging	Het
Topaz1	A	G	9: 122,576,501 (GRCm39)	T31A	probably benign	Het
Trpv6	C	T	6: 41,598,678 (GRCm39)	R649H	probably damaging	Het
Vmn1r188	A	G	13: 22,272,688 (GRCm39)	Y214C	probably benign	Het
Vps8	T	A	16: 21,254,525 (GRCm39)	I59N	probably damaging	Het
Zcchc2	A	G	1: 105,958,987 (GRCm39)	T1153A	possibly damaging	Het
Zfp30	A	G	7: 29,492,627 (GRCm39)	R294G	probably damaging	Het
Zfp558	A	T	9: 18,367,799 (GRCm39)	C330S	possibly damaging	Het
Zfp62	A	C	11: 49,106,568 (GRCm39)	S220R	probably damaging	Het
Zfp62	G	T	11: 49,106,569 (GRCm39)	S220I	probably damaging	Het
Zp3r	A	G	1: 130,505,757 (GRCm39)	S423P	probably damaging	Het

Other mutations in Wnt9a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02526:Wnt9a	APN	11	59,219,331 (GRCm39)	missense	probably damaging	0.99
IGL02550:Wnt9a	APN	11	59,221,744 (GRCm39)	missense	probably damaging	1.00
IGL03131:Wnt9a	APN	11	59,221,855 (GRCm39)	missense	probably damaging	0.97
IGL03347:Wnt9a	APN	11	59,221,740 (GRCm39)	missense	probably damaging	1.00
R1764:Wnt9a	UTSW	11	59,221,728 (GRCm39)	missense	probably benign	0.13
R2073:Wnt9a	UTSW	11	59,222,055 (GRCm39)	missense	probably damaging	1.00
R4502:Wnt9a	UTSW	11	59,219,363 (GRCm39)	missense	probably damaging	1.00
R4845:Wnt9a	UTSW	11	59,222,067 (GRCm39)	missense	probably benign	0.24
R5268:Wnt9a	UTSW	11	59,219,396 (GRCm39)	missense	probably damaging	1.00
R7501:Wnt9a	UTSW	11	59,219,583 (GRCm39)	missense	probably damaging	0.99
R9390:Wnt9a	UTSW	11	59,218,592 (GRCm39)	missense	possibly damaging	0.75
Z1177:Wnt9a	UTSW	11	59,221,989 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACCAGAGCTTGTACACCTG -3'
(R):5'- ACTCCATGCAGATTAAGACCCTTTG -3'

Sequencing Primer
(F):5'- AGCTTGTACACCTGGACGACTC -3'
(R):5'- GCAGATTAAGACCCTTTGCACTATG -3'

Posted On

2015-09-24