Mutagenetix > Incidental Mutation

Incidental Mutation 'RF015:Wnt7a'

603469

Institutional Source

Beutler Lab

Gene Symbol

Wnt7a

Ensembl Gene

ENSMUSG00000030093

Gene Name

wingless-type MMTV integration site family, member 7A

Synonyms

tw, Wnt-7a

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.661) question?

Stock #

RF015 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91340963-91388335 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 91371405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 186 (E186K)

Ref Sequence

ENSEMBL: ENSMUSP00000032180 (fasta)

Gene Model

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

AlphaFold

P24383

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032180
AA Change: E186K

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032180
Gene: ENSMUSG00000030093
AA Change: E186K

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.5%
20x: 99.0%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,824 (GRCm39)		probably benign	Het
5430401F13Rik	AAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	AAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,822 (GRCm39)		probably benign	Het
5430401F13Rik	CAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	CAGAAAGGAAAAGGTGGCCAGCAAAAAAAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,819 (GRCm39)		probably benign	Het
Abcb4	GAA	G	5: 8,946,594 (GRCm39)		probably null	Het
Agap1	T	A	1: 89,561,985 (GRCm39)	Y214*	probably null	Het
Arhgap17	CTGTTGTTG	CTGTTG	7: 122,886,085 (GRCm39)		probably benign	Het
Arid1a	AGGC	A	4: 133,480,142 (GRCm39)		probably benign	Het
Bco2	A	G	9: 50,457,297 (GRCm39)	F82L	probably damaging	Het
Bltp1	TTATTATTATTAT	TTATTATTATTATTAGTATTATTATTAT	3: 37,104,897 (GRCm39)		probably benign	Het
Calhm1	TGGCTGTGGCTG	TGGCTGTGGCTGGGGCTGTGGCTG	19: 47,129,695 (GRCm39)		probably benign	Het
Capn9	T	C	8: 125,345,221 (GRCm39)	F683L	probably benign	Het
Cep131	CTGTTGTT	CTGTTGTTGTT	11: 119,963,794 (GRCm39)		probably benign	Het
Cfap251	GGAGGAGGAGGAG	GGAGGAGGAGGAGGAG	5: 123,392,305 (GRCm39)		probably benign	Het
Cfap251	TCTCA	T	5: 123,412,224 (GRCm39)		probably benign	Het
Cgnl1	AGCG	AGCGGCG	9: 71,631,997 (GRCm39)		probably benign	Het
Chga	AGC	AGCGGC	12: 102,527,679 (GRCm39)		probably benign	Het
Cyb5r4	GACACA	GACACAGTGCCCAAGGATGTGACATACACA	9: 86,922,485 (GRCm39)		probably benign	Het
Cyb5r4	CTGCCCAGGGA	CTGCCCAGGGATGTGACAGACACATTGCCCAGGGA	9: 86,922,491 (GRCm39)		probably benign	Het
Cyria	T	A	12: 12,419,939 (GRCm39)	S294R	probably benign	Het
Dnah10	G	A	5: 124,895,141 (GRCm39)	D3557N	probably damaging	Het
Dnmt1	GGAGCACAGTTCCTACCTCGTT	GGAGCACAGTTCCTACCTCGTTTTGGGGGCTGAGCACAGTTCCTACCTCGTT	9: 20,821,420 (GRCm39)		probably null	Het
Dnmt1	ACAGTTCCTACCTCGTT	ACAGTTCCTACCTCGTTTTGGGGGCGGAGCCCAGTTCCTACCTCGTT	9: 20,821,425 (GRCm39)		probably null	Het
Efhd2	CCGCCG	CCGCCGACGCCG	4: 141,602,067 (GRCm39)		probably benign	Het
Exd2	AGCAGCCGCAGCC	AGCAGCC	12: 80,522,691 (GRCm39)		probably benign	Het
Garin5a	TGGGTCTGAGGGAGGA	TGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCGGGGTCTGAGGGAGGA	7: 44,149,946 (GRCm39)		probably null	Het
Gatad1	A	T	5: 3,697,523 (GRCm39)	C33S	possibly damaging	Het
H2-DMb1	A	G	17: 34,374,476 (GRCm39)	Y42C	probably damaging	Het
Hars2	G	T	18: 36,918,998 (GRCm39)	R86L	probably damaging	Het
Hsdl2	GGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	GGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	4: 59,610,640 (GRCm39)		probably benign	Het
Irag2	AGCACATTG	AGCACATTGCGCACATTG	6: 145,119,509 (GRCm39)		probably benign	Het
Lce1m	TGCCAC	TGCCACTGCTGCGGCCAC	3: 92,925,455 (GRCm39)		probably benign	Het
Maml2	ACAGCAGCAGCAACAGCAGCAGCAGCAGCA	ACAGCAACAGCAGCAGCAGCAGCA	9: 13,532,752 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,426 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,447 (GRCm39)		probably benign	Het
Mast4	GGACAAGCTGTGAGTTGGGGAACCCGGGAG	GG	13: 102,875,755 (GRCm39)		probably null	Het
Mucl2	T	A	15: 103,927,696 (GRCm39)	N87I	probably benign	Het
Myh3	ATTAC	ATTACTTAC	11: 66,977,182 (GRCm39)		probably null	Het
Nup214	T	C	2: 31,924,718 (GRCm39)	V1749A	probably benign	Het
Or52e5	A	G	7: 104,719,255 (GRCm39)	I194V	probably damaging	Het
Pcdhgb4	A	T	18: 37,854,855 (GRCm39)	N417Y	probably damaging	Het
Pclo	G	T	5: 14,565,283 (GRCm39)	L16F	unknown	Het
Pik3c2g	T	A	6: 139,700,497 (GRCm39)	N262K		Het
Ppp1r13l	ACAGGCACCCTGCTCCGGC	AC	7: 19,102,467 (GRCm39)		probably benign	Het
Rfx4	CTCTCT	CTCTCTCTCTCTCTCTTTCTCT	10: 84,694,353 (GRCm39)		probably benign	Het
Rnf41	C	T	10: 128,271,279 (GRCm39)	A63V	probably benign	Het
Sirt1	C	T	10: 63,172,795 (GRCm39)	A163T	probably damaging	Het
Six3	GCG	GCGTCG	17: 85,928,798 (GRCm39)		probably benign	Het
Six4	TG	T	12: 73,150,356 (GRCm39)		probably null	Het
Skor2	A	G	18: 76,948,483 (GRCm39)	E735G	probably damaging	Het
Slc26a8	TCTCTGGCTCTGGCTCTGGCTCTGGCTC	TCTCTGGCTCTGGCTCTGGCTC	17: 28,857,315 (GRCm39)		probably benign	Het
Smco2	T	TTCG	6: 146,754,161 (GRCm39)		probably benign	Het
Strada	A	G	11: 106,061,846 (GRCm39)	I172T	probably damaging	Het
Syne1	T	C	10: 5,252,248 (GRCm39)	I2469V	probably benign	Het
Tcof1	C	CTGCTGAGATGGGCACTTTCCCAGAGCTCCCCTTGGA	18: 60,966,656 (GRCm39)		probably benign	Het
Tram1	T	C	1: 13,649,966 (GRCm39)	Y86C	probably damaging	Het
Ttll7	T	A	3: 146,685,413 (GRCm39)	F882L	probably benign	Het
Usp2	TGTGACCTGTTCTTCACTTAC	TGTGACCTGTTCTTCACTTACTCACGTGACCTGTTCTTCACTTAC	9: 44,000,406 (GRCm39)		probably benign	Het
Utp18	A	G	11: 93,776,287 (GRCm39)	L66P	probably damaging	Het
Zfp384	AGGCCCAGGCCC	AGGCCCAGGCCCCGGCCCAGGCCC	6: 125,013,444 (GRCm39)		probably benign	Het
Zgrf1	A	G	3: 127,356,882 (GRCm39)	I703V	probably benign	Het
Zpld2	T	C	4: 133,920,338 (GRCm39)	H609R	probably benign	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
R4587:Wnt7a	UTSW	6	91,343,324 (GRCm39)	splice site	probably null
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

Predicted Primers

PCR Primer
(F):5'- TGCTGAGAAGCAACCATGTTGG -3'
(R):5'- GCCTTCACCTATGCGATTATCG -3'

Sequencing Primer
(F):5'- GAAGCTAAGTGCAGCACT -3'
(R):5'- ATGCCATCACTGCTGCCTG -3'

Posted On

2019-12-04