Mutagenetix > Incidental Mutation

Incidental Mutation 'R4587:Wnt7a'

344164

Institutional Source

Beutler Lab

Gene Symbol

Wnt7a

Ensembl Gene

ENSMUSG00000030093

Gene Name

wingless-type MMTV integration site family, member 7A

Synonyms

tw, Wnt-7a

MMRRC Submission

042006-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.661) question?

Stock #

R4587 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91340963-91388335 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 91343324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000032180 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032180]

AlphaFold

P24383

Predicted Effect

probably null
Transcript: ENSMUST00000032180

SMART Domains

Protein: ENSMUSP00000032180
Gene: ENSMUSG00000030093

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
WNT1	40	349	1.57e-213	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132936

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133092

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.8%
20x: 93.8%

Validation Efficiency

100% (47/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the WNT gene family, which 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 involved in the development of the anterior-posterior axis in the female reproductive tract, and also plays a critical role in uterine smooth muscle pattering and maintenance of adult uterine function. Mutations in this gene are associated with Fuhrmann and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants have skeletal abnormalities including absence of digits, especially of the forelimb, and sometimes absence of the ulna. Occasionally, there is an extra set of ribs. Both sexes are sterile due to abnormalities of the Mullerian duct. [provided by MGI curators]

Allele List at MGI

Wnt7a^px-r, Wnt7a^px, Wnt7a^tm1Amc (Allele List at MGI)

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16a	T	C	17: 35,320,063 (GRCm39)		probably null	Het
Adsl	T	C	15: 80,851,968 (GRCm39)		probably null	Het
Arhgap32	T	C	9: 32,172,241 (GRCm39)	S1674P	probably benign	Het
Cd244a	T	G	1: 171,405,447 (GRCm39)	D277E	probably benign	Het
Ceacam23	C	T	7: 17,620,149 (GRCm39)	L18F	possibly damaging	Het
Ces1a	A	G	8: 93,751,932 (GRCm39)	Y401H	probably damaging	Het
Chd9	G	T	8: 91,763,134 (GRCm39)	V2320F	possibly damaging	Het
Chrd	A	G	16: 20,557,325 (GRCm39)	E670G	possibly damaging	Het
Ckap2	A	G	8: 22,666,992 (GRCm39)	S290P	probably benign	Het
Cluap1	T	A	16: 3,751,680 (GRCm39)		probably null	Het
Col15a1	C	T	4: 47,257,184 (GRCm39)	T325M	probably damaging	Het
Cplane1	T	C	15: 8,230,636 (GRCm39)	I971T	possibly damaging	Het
Dnah5	T	C	15: 28,304,745 (GRCm39)	F1652S	probably damaging	Het
Dok6	T	C	18: 89,319,320 (GRCm39)	Q312R	probably benign	Het
Glis1	C	A	4: 107,484,740 (GRCm39)	H600N	possibly damaging	Het
Hivep1	A	G	13: 42,309,704 (GRCm39)	D648G	probably benign	Het
Kif22	A	T	7: 126,632,052 (GRCm39)		probably null	Het
Lmtk3	A	G	7: 45,443,504 (GRCm39)	D729G	possibly damaging	Het
Mapk8ip3	G	A	17: 25,123,761 (GRCm39)	P587L	probably damaging	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Myt1l	A	G	12: 29,960,800 (GRCm39)	K1038E	unknown	Het
Nf1	T	A	11: 79,426,863 (GRCm39)		probably null	Het
Nom1	T	C	5: 29,656,163 (GRCm39)	S843P	possibly damaging	Het
Or1e33	A	G	11: 73,738,045 (GRCm39)	I302T	probably benign	Het
Pex14	A	G	4: 149,048,021 (GRCm39)		probably benign	Het
Ptcd1	T	C	5: 145,091,531 (GRCm39)	T523A	possibly damaging	Het
Rasip1	T	C	7: 45,282,159 (GRCm39)	V554A	possibly damaging	Het
Ric3	A	T	7: 108,653,570 (GRCm39)		probably null	Het
Skint4	G	A	4: 111,944,221 (GRCm39)	C11Y	probably damaging	Het
Smr2	G	A	5: 88,256,631 (GRCm39)	R103H	probably benign	Het
Sobp	T	C	10: 43,034,020 (GRCm39)	Y102C	probably damaging	Het
Taar7f	T	A	10: 23,926,473 (GRCm39)	F356I	probably damaging	Het
Tbcd	T	C	11: 121,496,097 (GRCm39)	V1044A	possibly damaging	Het
Tecpr1	C	G	5: 144,149,408 (GRCm39)	V340L	probably damaging	Het
Tle3	A	G	9: 61,281,295 (GRCm39)	I22V	probably damaging	Het
Trim30a	G	A	7: 104,084,851 (GRCm39)	R120*	probably null	Het
Trim72	A	G	7: 127,607,164 (GRCm39)	D231G	probably benign	Het
Vmn2r59	T	A	7: 41,695,648 (GRCm39)	N255Y	probably benign	Het
Vps13a	T	C	19: 16,617,403 (GRCm39)	T3002A	probably damaging	Het
Zfp51	C	T	17: 21,685,178 (GRCm39)	Q598*	probably null	Het
Zfp617	A	T	8: 72,683,003 (GRCm39)	N51I	probably damaging	Het
Zfp977	A	T	7: 42,229,614 (GRCm39)	C304S	probably damaging	Het
Zic1	A	G	9: 91,246,875 (GRCm39)	S66P	probably damaging	Het

Other mutations in Wnt7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Wnt7a	APN	6	91,342,973 (GRCm39)	missense	probably damaging	0.99
IGL01085:Wnt7a	APN	6	91,385,771 (GRCm39)	missense	probably benign	0.05
IGL01784:Wnt7a	APN	6	91,342,839 (GRCm39)	missense	probably damaging	1.00
IGL01941:Wnt7a	APN	6	91,371,645 (GRCm39)	missense	probably benign	0.05
IGL02415:Wnt7a	APN	6	91,371,539 (GRCm39)	missense	probably damaging	0.99
gimpy	UTSW	6	91,342,866 (GRCm39)	missense	probably damaging	1.00
R1932:Wnt7a	UTSW	6	91,371,530 (GRCm39)	missense	probably benign	0.06
R1993:Wnt7a	UTSW	6	91,342,938 (GRCm39)	missense	possibly damaging	0.74
R1994:Wnt7a	UTSW	6	91,342,938 (GRCm39)	missense	possibly damaging	0.74
R2291:Wnt7a	UTSW	6	91,371,468 (GRCm39)	missense	probably benign	0.04
R5059:Wnt7a	UTSW	6	91,371,482 (GRCm39)	missense	probably benign	0.07
R5632:Wnt7a	UTSW	6	91,371,637 (GRCm39)	nonsense	probably null
R5712:Wnt7a	UTSW	6	91,343,186 (GRCm39)	missense	probably damaging	1.00
R6636:Wnt7a	UTSW	6	91,371,540 (GRCm39)	missense	probably benign	0.01
R7480:Wnt7a	UTSW	6	91,371,395 (GRCm39)	missense	probably benign	0.39
R8386:Wnt7a	UTSW	6	91,343,270 (GRCm39)	missense	probably damaging	1.00
R9485:Wnt7a	UTSW	6	91,343,297 (GRCm39)	missense	probably benign	0.25
RF015:Wnt7a	UTSW	6	91,371,405 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- ATCTTCAGAAAGGTGGGCCG -3'
(R):5'- TCAAGAGTAAGCAGAGTACACTC -3'

Sequencing Primer
(F):5'- TGTTTCGACTGGCACGCAC -3'
(R):5'- CTCATCAAGGGAGGGTACTGCATC -3'

Posted On

2015-09-24