Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03403:Wwc1'

421501

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wwc1

Ensembl Gene

ENSMUSG00000018849

Gene Name

WW, C2 and coiled-coil domain containing 1

Synonyms

Kibra

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03403

Quality Score

Status

Chromosome

Chromosomal Location

35729227-35871354 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35806111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 41 (Y41H)

Ref Sequence

ENSEMBL: ENSMUSP00000018993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018993]

AlphaFold

Q5SXA9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018993
AA Change: Y41H

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000018993
Gene: ENSMUSG00000018849
AA Change: Y41H

Domain	Start	End	E-Value	Type
WW	7	39	7.96e-12	SMART
WW	54	86	5.22e-7	SMART
coiled coil region	107	133	N/A	INTRINSIC
low complexity region	139	153	N/A	INTRINSIC
coiled coil region	158	193	N/A	INTRINSIC
low complexity region	255	270	N/A	INTRINSIC
coiled coil region	294	330	N/A	INTRINSIC
low complexity region	341	353	N/A	INTRINSIC
coiled coil region	360	431	N/A	INTRINSIC
low complexity region	527	549	N/A	INTRINSIC
low complexity region	645	657	N/A	INTRINSIC
Pfam:C2	674	784	8.3e-7	PFAM
low complexity region	842	860	N/A	INTRINSIC
coiled coil region	994	1024	N/A	INTRINSIC
low complexity region	1026	1040	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.] The protein encoded by this gene is a cytoplasmic phosphoprotein that interacts with PRKC-zeta and dynein light chain-1. Alleles of this gene have been found that enhance memory in some individuals. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired adult synaptic plasticity and fear-based conditioning. [provided by MGI curators]

Allele List at MGI

All alleles(11) : Targeted(1) Gene trapped(10)

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	T	A	15: 11,241,574 (GRCm39)	I382N	probably damaging	Het
Adamts5	T	C	16: 85,659,902 (GRCm39)	T797A	probably damaging	Het
Ahr	A	T	12: 35,554,325 (GRCm39)	V598E	possibly damaging	Het
Akap10	A	G	11: 61,806,099 (GRCm39)	S210P	probably benign	Het
Asb5	G	T	8: 55,036,582 (GRCm39)		probably benign	Het
AU041133	T	C	10: 81,974,178 (GRCm39)	V31A	probably damaging	Het
Bcar3	T	C	3: 122,306,618 (GRCm39)	V197A	probably benign	Het
Bptf	A	G	11: 106,990,559 (GRCm39)	V510A	possibly damaging	Het
Ccar2	A	T	14: 70,377,517 (GRCm39)	D712E	probably damaging	Het
Cenpt	G	A	8: 106,576,297 (GRCm39)	Q85*	probably null	Het
Ciita	C	A	16: 10,321,736 (GRCm39)	H98N	probably damaging	Het
Cplane1	A	C	15: 8,230,826 (GRCm39)	K1034N	probably damaging	Het
Csn1s1	T	A	5: 87,815,152 (GRCm39)	M16K	probably benign	Het
Fah	A	G	7: 84,242,417 (GRCm39)	I297T	probably damaging	Het
Fbxo25	A	G	8: 13,979,423 (GRCm39)	N214D	probably benign	Het
Frem3	A	C	8: 81,337,719 (GRCm39)	D4A	probably benign	Het
Gm3409	A	G	5: 146,476,334 (GRCm39)	K162E	probably benign	Het
Gxylt1	T	C	15: 93,159,656 (GRCm39)	D148G	possibly damaging	Het
Hoxd4	A	T	2: 74,558,681 (GRCm39)	E168V	possibly damaging	Het
Ifna6	A	G	4: 88,745,695 (GRCm39)	S15G	possibly damaging	Het
Iqck	T	A	7: 118,475,494 (GRCm39)	H97Q	probably benign	Het
Kif16b	T	A	2: 142,553,789 (GRCm39)	E1003V	probably damaging	Het
Lrp1b	G	A	2: 40,592,836 (GRCm39)	P3761L	probably benign	Het
Mc4r	C	T	18: 66,992,597 (GRCm39)	C172Y	possibly damaging	Het
Oosp1	T	A	19: 11,664,744 (GRCm39)	N104I	probably damaging	Het
Or2z9	A	G	8: 72,854,341 (GRCm39)	T246A	probably benign	Het
Pram1	A	T	17: 33,861,117 (GRCm39)	I513F	probably damaging	Het
Pramel18	T	C	4: 101,767,125 (GRCm39)	S125P	probably benign	Het
Rasef	A	G	4: 73,652,771 (GRCm39)	S577P	probably damaging	Het
Rfx8	T	C	1: 39,729,333 (GRCm39)	D144G	possibly damaging	Het
Rreb1	A	C	13: 38,113,550 (GRCm39)	N303T	possibly damaging	Het
Rrn3	A	T	16: 13,617,809 (GRCm39)	K351*	probably null	Het
Sox30	A	T	11: 45,908,035 (GRCm39)	E734V	probably damaging	Het
Spns1	C	T	7: 125,970,708 (GRCm39)		probably null	Het
Tgfbr2	T	A	9: 115,939,370 (GRCm39)	E177D	probably benign	Het
Tnfaip8l3	A	G	9: 53,934,741 (GRCm39)	M78T	possibly damaging	Het
Vmn2r92	C	T	17: 18,387,114 (GRCm39)	T151I	probably damaging	Het
Zfp407	A	T	18: 84,578,922 (GRCm39)	N730K	probably damaging	Het

Other mutations in Wwc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Wwc1	APN	11	35,735,029 (GRCm39)	missense	possibly damaging	0.82
IGL01161:Wwc1	APN	11	35,758,103 (GRCm39)	missense	probably damaging	1.00
IGL01401:Wwc1	APN	11	35,789,445 (GRCm39)	critical splice donor site	probably null
IGL01771:Wwc1	APN	11	35,744,185 (GRCm39)	critical splice donor site	probably null
IGL01804:Wwc1	APN	11	35,732,751 (GRCm39)	missense	probably damaging	1.00
IGL02079:Wwc1	APN	11	35,766,885 (GRCm39)	missense	probably damaging	1.00
IGL02201:Wwc1	APN	11	35,734,978 (GRCm39)	splice site	probably benign
IGL03376:Wwc1	APN	11	35,743,121 (GRCm39)	missense	possibly damaging	0.80
BB002:Wwc1	UTSW	11	35,734,990 (GRCm39)	missense	probably benign	0.00
BB012:Wwc1	UTSW	11	35,734,990 (GRCm39)	missense	probably benign	0.00
P0008:Wwc1	UTSW	11	35,744,178 (GRCm39)	splice site	probably benign
R0277:Wwc1	UTSW	11	35,743,175 (GRCm39)	missense	probably damaging	0.99
R0321:Wwc1	UTSW	11	35,732,637 (GRCm39)	nonsense	probably null
R0323:Wwc1	UTSW	11	35,743,175 (GRCm39)	missense	probably damaging	0.99
R0629:Wwc1	UTSW	11	35,744,299 (GRCm39)	missense	probably benign	0.18
R1302:Wwc1	UTSW	11	35,734,984 (GRCm39)	missense	probably damaging	1.00
R1769:Wwc1	UTSW	11	35,752,671 (GRCm39)	missense	probably benign
R1870:Wwc1	UTSW	11	35,752,772 (GRCm39)	missense	probably damaging	1.00
R2000:Wwc1	UTSW	11	35,767,374 (GRCm39)	missense	probably damaging	1.00
R2074:Wwc1	UTSW	11	35,780,180 (GRCm39)	missense	possibly damaging	0.62
R2138:Wwc1	UTSW	11	35,732,714 (GRCm39)	missense	possibly damaging	0.47
R2140:Wwc1	UTSW	11	35,761,355 (GRCm39)	missense	probably benign	0.01
R2680:Wwc1	UTSW	11	35,766,756 (GRCm39)	missense	probably benign	0.23
R3864:Wwc1	UTSW	11	35,801,143 (GRCm39)	missense	probably damaging	1.00
R4773:Wwc1	UTSW	11	35,758,123 (GRCm39)	missense	probably benign
R4926:Wwc1	UTSW	11	35,780,227 (GRCm39)	missense	probably benign	0.17
R4980:Wwc1	UTSW	11	35,778,930 (GRCm39)	missense	possibly damaging	0.93
R4990:Wwc1	UTSW	11	35,767,393 (GRCm39)	missense	probably benign	0.00
R5044:Wwc1	UTSW	11	35,774,172 (GRCm39)	missense	probably benign	0.45
R5238:Wwc1	UTSW	11	35,766,723 (GRCm39)	missense	probably benign	0.02
R5421:Wwc1	UTSW	11	35,801,123 (GRCm39)	missense	possibly damaging	0.93
R5421:Wwc1	UTSW	11	35,766,890 (GRCm39)	missense	possibly damaging	0.81
R5461:Wwc1	UTSW	11	35,758,199 (GRCm39)	missense	probably damaging	1.00
R5705:Wwc1	UTSW	11	35,767,423 (GRCm39)	missense	probably damaging	0.99
R5847:Wwc1	UTSW	11	35,758,153 (GRCm39)	missense	probably damaging	1.00
R5993:Wwc1	UTSW	11	35,743,163 (GRCm39)	missense	probably benign	0.17
R6006:Wwc1	UTSW	11	35,780,100 (GRCm39)	missense	probably damaging	0.98
R6006:Wwc1	UTSW	11	35,761,809 (GRCm39)	missense	probably null	1.00
R6516:Wwc1	UTSW	11	35,758,129 (GRCm39)	missense	probably benign	0.05
R6519:Wwc1	UTSW	11	35,744,264 (GRCm39)	missense	probably benign	0.04
R6520:Wwc1	UTSW	11	35,744,264 (GRCm39)	missense	probably benign	0.04
R6525:Wwc1	UTSW	11	35,744,264 (GRCm39)	missense	probably benign	0.04
R6526:Wwc1	UTSW	11	35,744,264 (GRCm39)	missense	probably benign	0.04
R6527:Wwc1	UTSW	11	35,744,264 (GRCm39)	missense	probably benign	0.04
R6528:Wwc1	UTSW	11	35,744,264 (GRCm39)	missense	probably benign	0.04
R7060:Wwc1	UTSW	11	35,806,003 (GRCm39)	missense	possibly damaging	0.74
R7156:Wwc1	UTSW	11	35,788,201 (GRCm39)	critical splice donor site	probably null
R7448:Wwc1	UTSW	11	35,766,533 (GRCm39)	missense	probably benign
R7586:Wwc1	UTSW	11	35,735,022 (GRCm39)	missense	possibly damaging	0.69
R7793:Wwc1	UTSW	11	35,759,936 (GRCm39)	missense	probably benign	0.21
R7925:Wwc1	UTSW	11	35,734,990 (GRCm39)	missense	probably benign	0.00
R8296:Wwc1	UTSW	11	35,761,384 (GRCm39)	splice site	probably benign
R8369:Wwc1	UTSW	11	35,758,198 (GRCm39)	missense	probably damaging	1.00
R8735:Wwc1	UTSW	11	35,774,234 (GRCm39)	missense	probably damaging	1.00
R8804:Wwc1	UTSW	11	35,774,144 (GRCm39)	missense	probably benign	0.30
R9081:Wwc1	UTSW	11	35,782,331 (GRCm39)	missense	probably benign	0.12
R9281:Wwc1	UTSW	11	35,780,211 (GRCm39)	missense	probably benign	0.03
R9561:Wwc1	UTSW	11	35,870,796 (GRCm39)	critical splice donor site	probably null
R9619:Wwc1	UTSW	11	35,766,779 (GRCm39)	missense	probably damaging	0.98
R9713:Wwc1	UTSW	11	35,766,576 (GRCm39)	missense	probably benign	0.33
X0025:Wwc1	UTSW	11	35,766,867 (GRCm39)	missense	possibly damaging	0.95
Z1088:Wwc1	UTSW	11	35,774,309 (GRCm39)	missense	possibly damaging	0.62

Posted On

2016-08-02