Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01522:Wwc2'

89427

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: 0.078) question?

Stock #

IGL01522

Quality Score

Status

Chromosome

Chromosomal Location

47823959-47990924 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47868633 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 482 (Y482F)

Ref Sequence

ENSEMBL: ENSMUSP00000056121 (fasta)

Gene Model

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

AlphaFold

Q6NXJ0

Predicted Effect

unknown
Transcript: ENSMUST00000057561
AA Change: Y482F

SMART Domains

Protein: ENSMUSP00000056121
Gene: ENSMUSG00000031563
AA Change: Y482F

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	T	C	15: 11,065,159 (GRCm38)		probably null	Het
Adamts3	T	C	5: 89,702,943 (GRCm38)	N579S	probably benign	Het
Akr1c19	A	G	13: 4,239,099 (GRCm38)		probably benign	Het
Ankrd39	T	A	1: 36,542,061 (GRCm38)	H69L	probably damaging	Het
Apcdd1	T	A	18: 62,952,115 (GRCm38)	M461K	possibly damaging	Het
Bpifa3	G	A	2: 154,137,582 (GRCm38)	C209Y	probably damaging	Het
Cep131	T	C	11: 120,067,163 (GRCm38)	E779G	probably benign	Het
Cep85	G	T	4: 134,152,256 (GRCm38)	Q394K	probably damaging	Het
Cep85	T	C	4: 134,152,255 (GRCm38)	Q394R	probably damaging	Het
Clcn6	T	C	4: 148,017,535 (GRCm38)	Y364C	probably benign	Het
Fetub	G	A	16: 22,929,641 (GRCm38)	M1I	probably null	Het
Greb1	T	C	12: 16,701,201 (GRCm38)	I1003V	probably damaging	Het
Hsf3	A	G	X: 96,320,594 (GRCm38)		probably benign	Het
Jcad	A	G	18: 4,673,312 (GRCm38)	N358S	probably damaging	Het
Kndc1	T	C	7: 139,913,972 (GRCm38)		probably benign	Het
Lama1	A	T	17: 67,752,774 (GRCm38)		probably benign	Het
Mark2	A	G	19: 7,281,238 (GRCm38)	V50A	probably benign	Het
Mmp7	T	C	9: 7,692,228 (GRCm38)	W35R	probably damaging	Het
Ndc80	A	G	17: 71,499,325 (GRCm38)	V578A	probably benign	Het
Nfyc	T	C	4: 120,781,524 (GRCm38)	E42G	probably damaging	Het
Or1j15	A	G	2: 36,569,221 (GRCm38)	T208A	probably benign	Het
Or52b4	A	T	7: 102,535,184 (GRCm38)	I146F	probably damaging	Het
Or5d37	T	C	2: 88,093,016 (GRCm38)	K307E	possibly damaging	Het
Or8g21	A	T	9: 38,995,100 (GRCm38)	C112S	probably benign	Het
Or9i16	A	T	19: 13,887,358 (GRCm38)	L284*	probably null	Het
Pcdha11	T	C	18: 37,185,008 (GRCm38)	F925L	probably damaging	Het
Pdcd1	T	G	1: 94,040,846 (GRCm38)	R154S	probably benign	Het
Pepd	T	A	7: 34,924,440 (GRCm38)	D87E	probably benign	Het
Pfn4	A	G	12: 4,770,240 (GRCm38)	T30A	probably benign	Het
Pgpep1l	A	G	7: 68,237,708 (GRCm38)	M48T	possibly damaging	Het
Pla2g15	A	G	8: 106,163,116 (GRCm38)	N340S	probably benign	Het
Plcb4	A	G	2: 136,002,627 (GRCm38)	D155G	probably damaging	Het
Plg	G	A	17: 12,404,069 (GRCm38)	G499S	probably damaging	Het
Plin3	C	T	17: 56,280,799 (GRCm38)	W305*	probably null	Het
Polq	C	A	16: 37,027,903 (GRCm38)	L291I	probably damaging	Het
Sanbr	A	G	11: 23,582,865 (GRCm38)		probably null	Het
Sdf2l1	T	A	16: 17,132,150 (GRCm38)	H54L	probably damaging	Het
Slc38a2	C	T	15: 96,693,055 (GRCm38)	D276N	possibly damaging	Het
Syk	A	G	13: 52,643,061 (GRCm38)	T576A	probably benign	Het
Tas2r119	G	A	15: 32,178,193 (GRCm38)	V302I	probably benign	Het
Uso1	T	C	5: 92,181,419 (GRCm38)	F389L	probably damaging	Het

Other mutations in Wwc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00969:Wwc2	APN	8	47,846,158 (GRCm38)	missense	unknown
IGL01397:Wwc2	APN	8	47,868,276 (GRCm38)	missense	unknown
IGL01530:Wwc2	APN	8	47,863,939 (GRCm38)	missense	unknown
IGL01867:Wwc2	APN	8	47,883,580 (GRCm38)	missense	probably benign	0.02
IGL01991:Wwc2	APN	8	47,869,866 (GRCm38)	nonsense	probably null
IGL02092:Wwc2	APN	8	47,864,535 (GRCm38)	missense	unknown
IGL02320:Wwc2	APN	8	47,863,847 (GRCm38)	splice site	probably null
IGL02503:Wwc2	APN	8	47,849,383 (GRCm38)	missense	unknown
H8562:Wwc2	UTSW	8	47,920,666 (GRCm38)	missense	possibly damaging	0.77
R0244:Wwc2	UTSW	8	47,900,721 (GRCm38)	missense	probably benign	0.16
R0331:Wwc2	UTSW	8	47,880,204 (GRCm38)	missense	probably benign	0.15
R0349:Wwc2	UTSW	8	47,868,666 (GRCm38)	missense	unknown
R0542:Wwc2	UTSW	8	47,868,379 (GRCm38)	missense	unknown
R0645:Wwc2	UTSW	8	47,900,639 (GRCm38)	splice site	probably benign
R1081:Wwc2	UTSW	8	47,828,764 (GRCm38)	unclassified	probably benign
R1167:Wwc2	UTSW	8	47,858,779 (GRCm38)	nonsense	probably null
R1646:Wwc2	UTSW	8	47,842,902 (GRCm38)	missense	unknown
R1860:Wwc2	UTSW	8	47,990,102 (GRCm38)	missense	possibly damaging	0.90
R2070:Wwc2	UTSW	8	47,868,321 (GRCm38)	missense	unknown
R2183:Wwc2	UTSW	8	47,842,926 (GRCm38)	missense	unknown
R3969:Wwc2	UTSW	8	47,856,323 (GRCm38)	missense	unknown
R4096:Wwc2	UTSW	8	47,842,902 (GRCm38)	missense	unknown
R4387:Wwc2	UTSW	8	47,831,646 (GRCm38)	missense	unknown
R4447:Wwc2	UTSW	8	47,868,667 (GRCm38)	missense	unknown
R4448:Wwc2	UTSW	8	47,868,667 (GRCm38)	missense	unknown
R4450:Wwc2	UTSW	8	47,868,667 (GRCm38)	missense	unknown
R4646:Wwc2	UTSW	8	47,920,601 (GRCm38)	missense	probably damaging	1.00
R4869:Wwc2	UTSW	8	47,920,678 (GRCm38)	missense	probably damaging	0.99
R5159:Wwc2	UTSW	8	47,900,761 (GRCm38)	missense	probably benign	0.03
R5317:Wwc2	UTSW	8	47,847,555 (GRCm38)	missense	unknown
R5391:Wwc2	UTSW	8	47,863,871 (GRCm38)	missense	unknown
R5728:Wwc2	UTSW	8	47,864,061 (GRCm38)	missense	unknown
R5871:Wwc2	UTSW	8	47,868,423 (GRCm38)	missense	unknown
R5943:Wwc2	UTSW	8	47,990,102 (GRCm38)	missense	possibly damaging	0.90
R6137:Wwc2	UTSW	8	47,856,263 (GRCm38)	missense	unknown
R6169:Wwc2	UTSW	8	47,858,843 (GRCm38)	missense	unknown
R6363:Wwc2	UTSW	8	47,887,162 (GRCm38)	splice site	probably null
R6421:Wwc2	UTSW	8	47,900,746 (GRCm38)	missense	probably damaging	1.00
R6467:Wwc2	UTSW	8	47,851,908 (GRCm38)	missense	unknown
R6712:Wwc2	UTSW	8	47,900,803 (GRCm38)	missense	probably benign	0.42
R6765:Wwc2	UTSW	8	47,900,791 (GRCm38)	missense	possibly damaging	0.85
R6766:Wwc2	UTSW	8	47,900,791 (GRCm38)	missense	possibly damaging	0.85
R6767:Wwc2	UTSW	8	47,900,791 (GRCm38)	missense	possibly damaging	0.85
R6768:Wwc2	UTSW	8	47,900,791 (GRCm38)	missense	possibly damaging	0.85
R6782:Wwc2	UTSW	8	47,900,791 (GRCm38)	missense	possibly damaging	0.85
R6993:Wwc2	UTSW	8	47,847,465 (GRCm38)	missense	unknown
R7016:Wwc2	UTSW	8	47,847,548 (GRCm38)	missense	unknown
R7079:Wwc2	UTSW	8	47,847,545 (GRCm38)	missense	unknown
R7219:Wwc2	UTSW	8	47,858,884 (GRCm38)	missense	unknown
R7258:Wwc2	UTSW	8	47,842,999 (GRCm38)	missense	unknown
R7334:Wwc2	UTSW	8	47,869,794 (GRCm38)	missense	unknown
R7375:Wwc2	UTSW	8	47,863,920 (GRCm38)	missense	unknown
R7451:Wwc2	UTSW	8	47,864,575 (GRCm38)	missense	not run
R7505:Wwc2	UTSW	8	47,880,150 (GRCm38)	missense	probably damaging	0.96
R7825:Wwc2	UTSW	8	47,990,162 (GRCm38)	missense	probably damaging	1.00
R7854:Wwc2	UTSW	8	47,868,477 (GRCm38)	missense	unknown
R7904:Wwc2	UTSW	8	47,856,235 (GRCm38)	missense	unknown
R8811:Wwc2	UTSW	8	47,883,544 (GRCm38)	missense	possibly damaging	0.48
R8985:Wwc2	UTSW	8	47,878,884 (GRCm38)	missense	probably benign	0.09
R9004:Wwc2	UTSW	8	47,920,697 (GRCm38)	missense	probably damaging	0.99
R9133:Wwc2	UTSW	8	47,851,972 (GRCm38)	missense	unknown
R9339:Wwc2	UTSW	8	47,900,824 (GRCm38)	missense	probably damaging	1.00
R9598:Wwc2	UTSW	8	47,875,325 (GRCm38)	missense	probably damaging	0.98
R9633:Wwc2	UTSW	8	47,851,924 (GRCm38)	frame shift	probably null
R9634:Wwc2	UTSW	8	47,851,924 (GRCm38)	frame shift	probably null
R9691:Wwc2	UTSW	8	47,828,764 (GRCm38)	unclassified	probably benign
R9799:Wwc2	UTSW	8	47,868,560 (GRCm38)	missense	unknown
Z1176:Wwc2	UTSW	8	47,868,549 (GRCm38)	missense	unknown

Posted On

2013-12-03