Mutagenetix > Incidental Mutation

Incidental Mutation 'R8278:Wnt7b'

638087

Institutional Source

Beutler Lab

Gene Symbol

Wnt7b

Ensembl Gene

ENSMUSG00000022382

Gene Name

wingless-type MMTV integration site family, member 7B

Synonyms

Wnt-7b

MMRRC Submission

067701-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8278 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85419638-85466022 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 85427887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Histidine at position 189 (N189H)

Ref Sequence

ENSEMBL: ENSMUSP00000105051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023015] [ENSMUST00000109424] [ENSMUST00000167968]

AlphaFold

P28047

Predicted Effect

SMART Domains

Protein: ENSMUSP00000023015
Gene: ENSMUSG00000022382
AA Change: N185H

Domain	Start	End	E-Value	Type
transmembrane domain	9	31	N/A	INTRINSIC
WNT1	40	349	1.29e-214	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000105051
Gene: ENSMUSG00000022382
AA Change: N189H

Domain	Start	End	E-Value	Type
low complexity region	20	38	N/A	INTRINSIC
WNT1	44	353	1.29e-214	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167968
AA Change: N118H

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000130627
Gene: ENSMUSG00000022382
AA Change: N118H

Domain	Start	End	E-Value	Type
WNT1	1	282	1.21e-182	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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. Among members of the human WNT family, this gene product is most similar to WNT7A protein. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous null embryos die at midgestational stages due to placental abnormalities involving the fusion of the chorion and allantois. Mice homozygous for a truncated allele display neonatal lethality, respiratory failure, and lung hemorrhage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,668,040 (GRCm39)	Q477L	probably benign	Het
Adcy10	A	T	1: 165,330,857 (GRCm39)	D40V	probably damaging	Het
Cab39l	T	C	14: 59,776,562 (GRCm39)	Y248H	probably damaging	Het
Casr	G	T	16: 36,336,011 (GRCm39)	D99E	probably damaging	Het
Cdh16	T	C	8: 105,345,107 (GRCm39)	E364G	probably benign	Het
Cep104	C	T	4: 154,068,122 (GRCm39)	T189I	possibly damaging	Het
Cfap418	T	A	4: 10,882,474 (GRCm39)		probably null	Het
Chd7	T	A	4: 8,862,485 (GRCm39)		probably null	Het
Chit1	G	A	1: 134,078,332 (GRCm39)	R380Q	probably benign	Het
Cpne2	A	G	8: 95,281,316 (GRCm39)	K174R	probably damaging	Het
Dchs2	T	A	3: 83,178,310 (GRCm39)	I1121N	probably damaging	Het
Fgf6	A	T	6: 126,992,781 (GRCm39)	Y78F	probably damaging	Het
H2-T10	A	T	17: 36,429,832 (GRCm39)	N320K	probably benign	Het
Heatr3	A	T	8: 88,883,361 (GRCm39)	N398I	possibly damaging	Het
Hrh4	T	C	18: 13,140,284 (GRCm39)	S60P	probably damaging	Het
Ikbip	A	G	10: 90,932,190 (GRCm39)	H278R	probably benign	Het
Jmy	A	T	13: 93,601,224 (GRCm39)	I394N	probably damaging	Het
Klhl8	T	C	5: 104,022,107 (GRCm39)	E314G	probably benign	Het
Lhx9	A	T	1: 138,766,324 (GRCm39)	C164S	probably damaging	Het
Loxl3	G	T	6: 83,025,697 (GRCm39)	G352C	probably damaging	Het
Lrrk1	A	G	7: 65,928,432 (GRCm39)	F1232S	probably benign	Het
Mpnd	A	G	17: 56,319,469 (GRCm39)	T311A	probably benign	Het
Mpp7	A	T	18: 7,444,025 (GRCm39)	D132E	probably benign	Het
Nck2	T	C	1: 43,593,740 (GRCm39)	S316P	probably damaging	Het
Nckap5	T	C	1: 125,955,509 (GRCm39)	S348G	probably damaging	Het
Nyap1	C	T	5: 137,730,077 (GRCm39)	R790H	probably damaging	Het
Or5b124	C	T	19: 13,610,958 (GRCm39)	T161I	possibly damaging	Het
Pdcd11	G	A	19: 47,094,736 (GRCm39)	V507I	probably damaging	Het
Pdzd2	T	C	15: 12,375,995 (GRCm39)	H1380R	probably benign	Het
Pgap1	C	T	1: 54,529,430 (GRCm39)	V763I	probably benign	Het
Pnma8b	G	T	7: 16,680,263 (GRCm39)	V416L	probably damaging	Het
Prkn	A	T	17: 12,269,609 (GRCm39)	N421Y	probably benign	Het
Prpf4	T	C	4: 62,333,493 (GRCm39)		probably null	Het
Psmb5	C	T	14: 54,855,342 (GRCm39)	G36D	probably benign	Het
Ptprq	A	G	10: 107,522,239 (GRCm39)	S571P	possibly damaging	Het
Rap1gap	A	C	4: 137,444,748 (GRCm39)	S254R	probably damaging	Het
Rufy2	A	T	10: 62,843,472 (GRCm39)	D492V	probably benign	Het
Ryr2	C	A	13: 11,610,392 (GRCm39)	E4145*	probably null	Het
Sgsm1	A	G	5: 113,407,958 (GRCm39)	F898L	probably damaging	Het
Slc26a9	C	A	1: 131,689,514 (GRCm39)	A487D	possibly damaging	Het
Slc6a15	T	C	10: 103,229,890 (GRCm39)		probably null	Het
Smad9	A	T	3: 54,696,687 (GRCm39)	T251S	probably benign	Het
Socs3	A	T	11: 117,858,478 (GRCm39)	C193*	probably null	Het
Sox6	T	A	7: 115,076,199 (GRCm39)	D813V	probably damaging	Het
Taf2	A	T	15: 54,929,361 (GRCm39)	L65*	probably null	Het
Taf6	G	A	5: 138,178,097 (GRCm39)	A468V	probably benign	Het
Tmem71	T	C	15: 66,426,961 (GRCm39)	D78G	probably damaging	Het
Tob2	T	C	15: 81,735,288 (GRCm39)	N227S	probably benign	Het
Trim34a	C	A	7: 103,898,623 (GRCm39)	Q180K	probably damaging	Het
Ugt1a9	T	C	1: 87,999,378 (GRCm39)	L276P	possibly damaging	Het
Wdr33	G	A	18: 31,960,405 (GRCm39)	R23Q	possibly damaging	Het
Zfp609	G	A	9: 65,604,804 (GRCm39)	A1308V	possibly damaging	Het

Other mutations in Wnt7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02543:Wnt7b	APN	15	85,443,097 (GRCm39)	splice site	probably benign
R0243:Wnt7b	UTSW	15	85,443,103 (GRCm39)	critical splice donor site	probably null
R0735:Wnt7b	UTSW	15	85,421,696 (GRCm39)	missense	probably damaging	1.00
R0835:Wnt7b	UTSW	15	85,421,978 (GRCm39)	missense	probably damaging	1.00
R1917:Wnt7b	UTSW	15	85,443,281 (GRCm39)	missense	probably damaging	1.00
R1919:Wnt7b	UTSW	15	85,443,281 (GRCm39)	missense	probably damaging	1.00
R3914:Wnt7b	UTSW	15	85,422,059 (GRCm39)	missense	possibly damaging	0.90
R5893:Wnt7b	UTSW	15	85,465,575 (GRCm39)	intron	probably benign
R7483:Wnt7b	UTSW	15	85,421,615 (GRCm39)	missense	possibly damaging	0.95
R7498:Wnt7b	UTSW	15	85,427,880 (GRCm39)	missense	probably damaging	1.00
R7787:Wnt7b	UTSW	15	85,428,112 (GRCm39)	missense	probably damaging	0.99
R8079:Wnt7b	UTSW	15	85,421,646 (GRCm39)	missense	probably damaging	1.00
R9382:Wnt7b	UTSW	15	85,443,175 (GRCm39)	missense	probably damaging	1.00
R9506:Wnt7b	UTSW	15	85,465,613 (GRCm39)	missense	unknown
Z1177:Wnt7b	UTSW	15	85,443,270 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTTGAGGTGTCAGGCCTG -3'
(R):5'- CTGAGCAATTGTGGCTGTGAC -3'

Sequencing Primer
(F):5'- TGTCAGGCCTGCACAAAG -3'
(R):5'- GCTGTGACCGGGAGAAGC -3'

Posted On

2020-07-28