Mutagenetix > Incidental Mutation

Incidental Mutation 'R9485:Wnt7a'

716515

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.661) question?

Stock #

R9485 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91340963-91388335 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91343297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 195 (N195I)

Ref Sequence

ENSEMBL: ENSMUSP00000032180 (fasta)

Gene Model

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

AlphaFold

P24383

Predicted Effect

probably benign
Transcript: ENSMUST00000032180
AA Change: N195I

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000032180
Gene: ENSMUSG00000030093
AA Change: N195I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,383,400 (GRCm39)	D855G	possibly damaging	Het
4930486L24Rik	A	T	13: 61,001,059 (GRCm39)	V159D	possibly damaging	Het
Ahnak	G	A	19: 8,979,438 (GRCm39)	A241T	probably benign	Het
Apoa4	T	C	9: 46,152,453 (GRCm39)	M1T	probably null	Het
Atn1	T	C	6: 124,722,748 (GRCm39)	K776E	unknown	Het
Atp1a2	A	G	1: 172,105,822 (GRCm39)	*948R	probably null	Het
Atp7b	T	C	8: 22,502,778 (GRCm39)	Q801R	probably damaging	Het
Birc6	T	A	17: 74,945,398 (GRCm39)	S2824T	probably damaging	Het
Cacng3	A	T	7: 122,361,435 (GRCm39)	I109F	probably damaging	Het
Cass4	T	C	2: 172,269,805 (GRCm39)	F629S	probably benign	Het
Ccdc168	T	G	1: 44,095,399 (GRCm39)	K1900Q	possibly damaging	Het
Cnot6l	T	C	5: 96,230,858 (GRCm39)	T370A	probably damaging	Het
Cntnap5c	A	C	17: 58,409,103 (GRCm39)	D447A	probably damaging	Het
Col11a2	T	A	17: 34,258,669 (GRCm39)	L14Q	unknown	Het
Dennd4a	T	G	9: 64,814,388 (GRCm39)	Y1505*	probably null	Het
Dhx32	T	C	7: 133,327,110 (GRCm39)	M464V	possibly damaging	Het
Dip2b	T	C	15: 100,052,924 (GRCm39)	V266A	probably benign	Het
Dnajb6	C	T	5: 29,986,517 (GRCm39)	Q220*	probably null	Het
Dnmt3a	G	A	12: 3,916,121 (GRCm39)	S102N	probably benign	Het
Dph5	A	T	3: 115,681,977 (GRCm39)		probably benign	Het
Ear6	T	A	14: 52,091,489 (GRCm39)	L12H		Het
Erp27	T	C	6: 136,886,548 (GRCm39)	T162A	possibly damaging	Het
Fance	T	A	17: 28,536,479 (GRCm39)	L13H	probably damaging	Het
Fanci	T	A	7: 79,089,405 (GRCm39)	V947D	probably benign	Het
Gab1	G	A	8: 81,515,484 (GRCm39)	T278M	probably damaging	Het
Gbp4	A	T	5: 105,269,796 (GRCm39)	M344K	probably damaging	Het
Gpr87	C	T	3: 59,087,005 (GRCm39)	V167M	possibly damaging	Het
Gramd1a	T	G	7: 30,829,963 (GRCm39)	D708A	unknown	Het
Gzmd	T	A	14: 56,368,160 (GRCm39)	I100F	probably benign	Het
Hcrtr1	T	A	4: 130,031,054 (GRCm39)	M77L	possibly damaging	Het
Hipk2	C	A	6: 38,680,445 (GRCm39)	R965L	possibly damaging	Het
Ift88	T	C	14: 57,675,724 (GRCm39)	M79T	probably benign	Het
Ighv1-12	T	C	12: 114,579,525 (GRCm39)	Y99C	possibly damaging	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,366,470 (GRCm39)		probably benign	Het
Il22b	A	G	10: 118,130,314 (GRCm39)	V63A	probably benign	Het
Mllt1	C	T	17: 57,207,184 (GRCm39)	R220H	probably damaging	Het
Mroh8	T	C	2: 157,071,913 (GRCm39)	T531A	probably benign	Het
Myh6	T	C	14: 55,181,802 (GRCm39)	K1833R	probably benign	Het
Nfkbie	C	T	17: 45,871,353 (GRCm39)	T270I	probably damaging	Het
Or4c110	G	A	2: 88,831,709 (GRCm39)	P308S	unknown	Het
Or52b3	A	T	7: 102,204,013 (GRCm39)	N174I	probably damaging	Het
Or52e5	C	T	7: 104,718,703 (GRCm39)	H10Y	possibly damaging	Het
Pcdh8	A	T	14: 80,005,689 (GRCm39)	F900I	probably damaging	Het
Pcolce2	T	A	9: 95,520,720 (GRCm39)	C32*	probably null	Het
Pus7	A	T	5: 23,973,859 (GRCm39)	S212T	probably benign	Het
Rgs12	G	T	5: 35,189,614 (GRCm39)	W1322L	probably damaging	Het
Sec1	G	A	7: 45,328,033 (GRCm39)	T338I	probably damaging	Het
Slc25a36	T	C	9: 96,962,522 (GRCm39)	K156E	probably benign	Het
Snrpn	C	T	7: 59,637,212 (GRCm39)	D35N	probably damaging	Het
Sox9	A	G	11: 112,673,705 (GRCm39)	S99G	probably benign	Het
Spmip3	T	C	1: 177,580,545 (GRCm39)	V130A	possibly damaging	Het
Tacc3	T	C	5: 33,821,644 (GRCm39)	S135P	possibly damaging	Het
Taf2	T	C	15: 54,911,667 (GRCm39)	E583G	probably benign	Het
Tmprss7	T	A	16: 45,498,282 (GRCm39)	K366*	probably null	Het
Trpm6	G	T	19: 18,755,978 (GRCm39)	V74L	probably benign	Het
Ttbk2	G	T	2: 120,575,986 (GRCm39)	T997N	probably benign	Het
Utp25	C	A	1: 192,812,541 (GRCm39)		probably benign	Het
Vmn2r3	T	A	3: 64,183,046 (GRCm39)	I218F	probably damaging	Het
Vps50	T	C	6: 3,592,557 (GRCm39)	V730A	probably damaging	Het
Wdr47	A	T	3: 108,544,371 (GRCm39)	I665F	probably damaging	Het
Zfp131	A	G	13: 120,251,885 (GRCm39)		probably benign	Het
Zfp709	T	A	8: 72,643,669 (GRCm39)	V366E	possibly damaging	Het
Zfp985	T	A	4: 147,668,280 (GRCm39)	C383S	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
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
RF015:Wnt7a	UTSW	6	91,371,405 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

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

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

Posted On

2022-07-18