Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01991:Wwc2'

182871

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wwc2

Ensembl Gene

ENSMUSG00000031563

Gene Name

WW, C2 and coiled-coil domain containing 2

Synonyms

D8Ertd594e

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL01991

Quality Score

Status

Chromosome

Chromosomal Location

48279117-48443579 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 48322901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 400 (L400*)

Ref Sequence

ENSEMBL: ENSMUSP00000056121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057561]

AlphaFold

Q6NXJ0

Predicted Effect

probably null
Transcript: ENSMUST00000057561
AA Change: L400*

SMART Domains

Protein: ENSMUSP00000056121
Gene: ENSMUSG00000031563
AA Change: L400*

Domain	Start	End	E-Value	Type
WW	11	43	3.92e-11	SMART
WW	58	90	4.65e-4	SMART
low complexity region	143	156	N/A	INTRINSIC
coiled coil region	162	194	N/A	INTRINSIC
coiled coil region	223	254	N/A	INTRINSIC
coiled coil region	302	333	N/A	INTRINSIC
low complexity region	341	358	N/A	INTRINSIC
coiled coil region	359	423	N/A	INTRINSIC
low complexity region	540	567	N/A	INTRINSIC
C2	713	818	5.29e0	SMART
coiled coil region	857	884	N/A	INTRINSIC
coiled coil region	1067	1144	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WW-and-C2-domain-containing family of proteins. Members of this family have two N-terminal WW domains that mediate binding to target proteins harboring L/PPxY motifs, an internal C2 domain for membrane association, and C-terminal alpha protein kinase C binding sites and class III PDZ domain-interaction motifs. Proteins of this family are able to form homo- and heterodimers and to modulate hippo pathway signaling. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	T	6: 146,854,608 (GRCm39)	F145I	probably benign	Het
Acot7	A	G	4: 152,307,536 (GRCm39)	K152E	possibly damaging	Het
Adamts13	G	T	2: 26,880,610 (GRCm39)	G731V	probably damaging	Het
Als2cl	C	T	9: 110,721,985 (GRCm39)	R584C	probably benign	Het
Apba1	T	A	19: 23,914,836 (GRCm39)	S679T	possibly damaging	Het
Asxl3	G	A	18: 22,649,219 (GRCm39)	V403I	probably damaging	Het
Card11	T	C	5: 140,899,133 (GRCm39)	T14A	possibly damaging	Het
Creb1	T	C	1: 64,598,913 (GRCm39)	F97L	probably benign	Het
Crispld1	T	A	1: 17,823,241 (GRCm39)	H407Q	probably benign	Het
Crtac1	A	T	19: 42,402,560 (GRCm39)	L16Q	possibly damaging	Het
Cyp2c29	T	C	19: 39,318,759 (GRCm39)	I452T	probably damaging	Het
Dennd5b	A	T	6: 148,982,322 (GRCm39)	D95E	probably damaging	Het
Dysf	C	T	6: 84,090,600 (GRCm39)	P1002L	probably damaging	Het
Gm6878	G	A	14: 67,543,678 (GRCm39)		probably benign	Het
Greb1	T	C	12: 16,749,682 (GRCm39)	Y1048C	probably damaging	Het
Iqcc	T	A	4: 129,511,582 (GRCm39)	E105V	probably benign	Het
Lhx8	A	G	3: 154,030,191 (GRCm39)	L116P	probably damaging	Het
Lrrk2	A	G	15: 91,664,149 (GRCm39)	D1962G	probably damaging	Het
Map1b	T	A	13: 99,566,077 (GRCm39)	M2215L	unknown	Het
Mapk8ip3	A	T	17: 25,146,835 (GRCm39)	L136Q	possibly damaging	Het
Mical3	T	C	6: 120,912,172 (GRCm39)	N1896D	probably damaging	Het
Mprip	A	G	11: 59,645,838 (GRCm39)	E674G	probably damaging	Het
Or6b13	C	T	7: 139,782,345 (GRCm39)	E113K	probably damaging	Het
Or8j3	T	C	2: 86,028,877 (GRCm39)	N73S	probably benign	Het
Pdzrn4	T	A	15: 92,299,807 (GRCm39)		probably null	Het
Pramel41	A	T	5: 94,593,705 (GRCm39)	Q10L	probably benign	Het
Prom1	T	C	5: 44,204,848 (GRCm39)	T209A	probably benign	Het
Prom2	C	A	2: 127,371,142 (GRCm39)	C785F	probably damaging	Het
Psg20	T	C	7: 18,418,350 (GRCm39)	Q139R	probably benign	Het
Rapgef6	T	A	11: 54,443,695 (GRCm39)	C93S	probably benign	Het
Rassf2	C	T	2: 131,842,352 (GRCm39)		probably null	Het
Scn11a	A	G	9: 119,648,970 (GRCm39)	I31T	probably damaging	Het
Slc4a5	A	T	6: 83,240,525 (GRCm39)	D164V	possibly damaging	Het
Slco3a1	T	C	7: 73,934,144 (GRCm39)	D676G	possibly damaging	Het
Tmcc2	T	C	1: 132,288,830 (GRCm39)	I208V	probably benign	Het
Traf4	T	C	11: 78,050,872 (GRCm39)	D428G	possibly damaging	Het
Trio	T	C	15: 27,871,360 (GRCm39)	I586V	possibly damaging	Het
Unc80	T	A	1: 66,508,668 (GRCm39)	C46*	probably null	Het
Vmn2r89	A	G	14: 51,689,676 (GRCm39)	N60D	probably benign	Het
Wscd1	A	T	11: 71,678,549 (GRCm39)	K391*	probably null	Het

Other mutations in Wwc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00969:Wwc2	APN	8	48,299,193 (GRCm39)	missense	unknown
IGL01397:Wwc2	APN	8	48,321,311 (GRCm39)	missense	unknown
IGL01522:Wwc2	APN	8	48,321,668 (GRCm39)	missense	unknown
IGL01530:Wwc2	APN	8	48,316,974 (GRCm39)	missense	unknown
IGL01867:Wwc2	APN	8	48,336,615 (GRCm39)	missense	probably benign	0.02
IGL02092:Wwc2	APN	8	48,317,570 (GRCm39)	missense	unknown
IGL02320:Wwc2	APN	8	48,316,882 (GRCm39)	splice site	probably null
IGL02503:Wwc2	APN	8	48,302,418 (GRCm39)	missense	unknown
H8562:Wwc2	UTSW	8	48,373,701 (GRCm39)	missense	possibly damaging	0.77
R0244:Wwc2	UTSW	8	48,353,756 (GRCm39)	missense	probably benign	0.16
R0331:Wwc2	UTSW	8	48,333,239 (GRCm39)	missense	probably benign	0.15
R0349:Wwc2	UTSW	8	48,321,701 (GRCm39)	missense	unknown
R0542:Wwc2	UTSW	8	48,321,414 (GRCm39)	missense	unknown
R0645:Wwc2	UTSW	8	48,353,674 (GRCm39)	splice site	probably benign
R1081:Wwc2	UTSW	8	48,281,799 (GRCm39)	unclassified	probably benign
R1167:Wwc2	UTSW	8	48,311,814 (GRCm39)	nonsense	probably null
R1646:Wwc2	UTSW	8	48,295,937 (GRCm39)	missense	unknown
R1860:Wwc2	UTSW	8	48,443,137 (GRCm39)	missense	possibly damaging	0.90
R2070:Wwc2	UTSW	8	48,321,356 (GRCm39)	missense	unknown
R2183:Wwc2	UTSW	8	48,295,961 (GRCm39)	missense	unknown
R3969:Wwc2	UTSW	8	48,309,358 (GRCm39)	missense	unknown
R4096:Wwc2	UTSW	8	48,295,937 (GRCm39)	missense	unknown
R4387:Wwc2	UTSW	8	48,284,681 (GRCm39)	missense	unknown
R4447:Wwc2	UTSW	8	48,321,702 (GRCm39)	missense	unknown
R4448:Wwc2	UTSW	8	48,321,702 (GRCm39)	missense	unknown
R4450:Wwc2	UTSW	8	48,321,702 (GRCm39)	missense	unknown
R4646:Wwc2	UTSW	8	48,373,636 (GRCm39)	missense	probably damaging	1.00
R4869:Wwc2	UTSW	8	48,373,713 (GRCm39)	missense	probably damaging	0.99
R5159:Wwc2	UTSW	8	48,353,796 (GRCm39)	missense	probably benign	0.03
R5317:Wwc2	UTSW	8	48,300,590 (GRCm39)	missense	unknown
R5391:Wwc2	UTSW	8	48,316,906 (GRCm39)	missense	unknown
R5728:Wwc2	UTSW	8	48,317,096 (GRCm39)	missense	unknown
R5871:Wwc2	UTSW	8	48,321,458 (GRCm39)	missense	unknown
R5943:Wwc2	UTSW	8	48,443,137 (GRCm39)	missense	possibly damaging	0.90
R6137:Wwc2	UTSW	8	48,309,298 (GRCm39)	missense	unknown
R6169:Wwc2	UTSW	8	48,311,878 (GRCm39)	missense	unknown
R6363:Wwc2	UTSW	8	48,340,197 (GRCm39)	splice site	probably null
R6421:Wwc2	UTSW	8	48,353,781 (GRCm39)	missense	probably damaging	1.00
R6467:Wwc2	UTSW	8	48,304,943 (GRCm39)	missense	unknown
R6712:Wwc2	UTSW	8	48,353,838 (GRCm39)	missense	probably benign	0.42
R6765:Wwc2	UTSW	8	48,353,826 (GRCm39)	missense	possibly damaging	0.85
R6766:Wwc2	UTSW	8	48,353,826 (GRCm39)	missense	possibly damaging	0.85
R6767:Wwc2	UTSW	8	48,353,826 (GRCm39)	missense	possibly damaging	0.85
R6768:Wwc2	UTSW	8	48,353,826 (GRCm39)	missense	possibly damaging	0.85
R6782:Wwc2	UTSW	8	48,353,826 (GRCm39)	missense	possibly damaging	0.85
R6993:Wwc2	UTSW	8	48,300,500 (GRCm39)	missense	unknown
R7016:Wwc2	UTSW	8	48,300,583 (GRCm39)	missense	unknown
R7079:Wwc2	UTSW	8	48,300,580 (GRCm39)	missense	unknown
R7219:Wwc2	UTSW	8	48,311,919 (GRCm39)	missense	unknown
R7258:Wwc2	UTSW	8	48,296,034 (GRCm39)	missense	unknown
R7334:Wwc2	UTSW	8	48,322,829 (GRCm39)	missense	unknown
R7375:Wwc2	UTSW	8	48,316,955 (GRCm39)	missense	unknown
R7451:Wwc2	UTSW	8	48,317,610 (GRCm39)	missense	not run
R7505:Wwc2	UTSW	8	48,333,185 (GRCm39)	missense	probably damaging	0.96
R7825:Wwc2	UTSW	8	48,443,197 (GRCm39)	missense	probably damaging	1.00
R7854:Wwc2	UTSW	8	48,321,512 (GRCm39)	missense	unknown
R7904:Wwc2	UTSW	8	48,309,270 (GRCm39)	missense	unknown
R8811:Wwc2	UTSW	8	48,336,579 (GRCm39)	missense	possibly damaging	0.48
R8985:Wwc2	UTSW	8	48,331,919 (GRCm39)	missense	probably benign	0.09
R9004:Wwc2	UTSW	8	48,373,732 (GRCm39)	missense	probably damaging	0.99
R9133:Wwc2	UTSW	8	48,305,007 (GRCm39)	missense	unknown
R9339:Wwc2	UTSW	8	48,353,859 (GRCm39)	missense	probably damaging	1.00
R9598:Wwc2	UTSW	8	48,328,360 (GRCm39)	missense	probably damaging	0.98
R9633:Wwc2	UTSW	8	48,304,959 (GRCm39)	frame shift	probably null
R9634:Wwc2	UTSW	8	48,304,959 (GRCm39)	frame shift	probably null
R9691:Wwc2	UTSW	8	48,281,799 (GRCm39)	unclassified	probably benign
R9799:Wwc2	UTSW	8	48,321,595 (GRCm39)	missense	unknown
Z1176:Wwc2	UTSW	8	48,321,584 (GRCm39)	missense	unknown

Posted On

2014-05-07