Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00969:Wwc2'

28073

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: 0.080) question?

Stock #

IGL00969

Quality Score

Status

Chromosome

Chromosomal Location

48279117-48443579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 48299193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 1039 (R1039W)

Ref Sequence

ENSEMBL: ENSMUSP00000056121 (fasta)

Gene Model

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

AlphaFold

Q6NXJ0

Predicted Effect

unknown
Transcript: ENSMUST00000057561
AA Change: R1039W

SMART Domains

Protein: ENSMUSP00000056121
Gene: ENSMUSG00000031563
AA Change: R1039W

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	G	A	5: 4,051,550 (GRCm39)	S1439N	probably benign	Het
Bcl9l	A	G	9: 44,419,539 (GRCm39)	T1069A	possibly damaging	Het
Btaf1	T	G	19: 36,988,652 (GRCm39)		probably benign	Het
Cdc40	A	T	10: 40,719,124 (GRCm39)	V335E	probably damaging	Het
Cenpj	A	T	14: 56,802,420 (GRCm39)	N48K	possibly damaging	Het
Cfh	A	G	1: 140,016,420 (GRCm39)	W635R	probably damaging	Het
Clca3a1	A	G	3: 144,714,719 (GRCm39)	S633P	possibly damaging	Het
Cnot6	T	C	11: 49,575,947 (GRCm39)	M176V	probably benign	Het
Cryz	G	T	3: 154,324,163 (GRCm39)	E51*	probably null	Het
Dcc	A	G	18: 71,589,954 (GRCm39)	Y681H	probably benign	Het
Dmxl1	T	A	18: 50,045,792 (GRCm39)	N2412K	probably benign	Het
Gpr137b	C	T	13: 13,539,650 (GRCm39)	W258*	probably null	Het
Hnf1b	A	G	11: 83,773,526 (GRCm39)	T242A	probably benign	Het
Hsd11b1	A	T	1: 192,905,952 (GRCm39)	C213*	probably null	Het
Igsf11	A	T	16: 38,829,279 (GRCm39)	T117S	probably damaging	Het
Inpp5b	T	C	4: 124,677,787 (GRCm39)	Y416H	probably damaging	Het
Kcnq3	C	A	15: 65,876,575 (GRCm39)	V523F	probably damaging	Het
Krtap9-5	T	C	11: 99,839,291 (GRCm39)		probably benign	Het
Lrig3	T	C	10: 125,832,984 (GRCm39)	L286S	probably damaging	Het
Myo18b	C	T	5: 113,022,873 (GRCm39)		probably benign	Het
Nup58	A	G	14: 60,466,365 (GRCm39)		probably benign	Het
Or51b6b	T	A	7: 103,310,274 (GRCm39)	Y61F	probably damaging	Het
Or5b94	T	C	19: 12,651,605 (GRCm39)	L12P	probably damaging	Het
Or5h18	A	G	16: 58,847,994 (GRCm39)	I92T	possibly damaging	Het
Or8k16	G	A	2: 85,520,007 (GRCm39)	C78Y	probably benign	Het
Pyroxd2	T	C	19: 42,719,877 (GRCm39)	D443G	possibly damaging	Het
Ttc28	A	G	5: 111,373,606 (GRCm39)	D1014G	probably benign	Het
Tubgcp5	T	A	7: 55,456,343 (GRCm39)	S312T	possibly damaging	Het
Uckl1	T	C	2: 181,211,410 (GRCm39)	D473G	probably benign	Het
Vmn2r76	G	T	7: 85,877,925 (GRCm39)	H491N	probably benign	Het
Zc3h14	T	A	12: 98,725,102 (GRCm39)	S255T	probably benign	Het
Zfp369	T	C	13: 65,445,074 (GRCm39)	V739A	probably benign	Het
Zfyve21	A	G	12: 111,791,368 (GRCm39)		probably benign	Het
Znhit6	A	G	3: 145,300,351 (GRCm39)		probably benign	Het

Other mutations in Wwc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL01991:Wwc2	APN	8	48,322,901 (GRCm39)	nonsense	probably null
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

2013-04-17