Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00432:Wwc1'

6065

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

NCBI RefSeq: NM_170779.1; MGI: 2388637

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00432

Quality Score

Status

Chromosome

Chromosomal Location

35838400-35980527 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35844202 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 949 (P949S)

Ref Sequence

ENSEMBL: ENSMUSP00000018993 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018993
AA Change: P949S

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000018993
Gene: ENSMUSG00000018849
AA Change: P949S

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

Strain: 5301655
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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	T	1: 130,742,836	Q265L	possibly damaging	Het
Akr1c18	T	A	13: 4,137,233	H168L	probably damaging	Het
Arid3b	A	G	9: 57,833,924	S80P	possibly damaging	Het
Barhl2	C	T	5: 106,455,499	A265T	possibly damaging	Het
Brd1	A	C	15: 88,730,158	V178G	probably benign	Het
Brd2	C	T	17: 34,114,423	R26Q	probably damaging	Het
Ddr2	T	C	1: 169,997,958	M358V	probably benign	Het
Dnajc14	A	G	10: 128,806,332	D41G	probably damaging	Het
Erap1	T	G	13: 74,673,659	V711G	probably benign	Het
Gchfr	A	G	2: 119,169,748	R37G	probably damaging	Het
Gm20518	T	A	16: 17,858,498	N136I	probably damaging	Het
Grm6	A	T	11: 50,863,297		probably benign	Het
Hydin	T	A	8: 110,601,252	V4797E	probably damaging	Het
Iws1	C	A	18: 32,084,688	N448K	probably benign	Het
Lin7c	T	C	2: 109,896,453		probably benign	Het
Lrrc40	T	A	3: 158,048,450	L196Q	probably damaging	Het
Lrrtm2	C	T	18: 35,213,268	G327D	probably benign	Het
Masp1	C	T	16: 23,513,851	C78Y	probably damaging	Het
Mmd	C	T	11: 90,264,534	R101W	probably damaging	Het
Myo1d	A	G	11: 80,601,740	Y730H	probably benign	Het
Pcdh15	A	G	10: 74,291,082		probably benign	Het
Pglyrp4	G	A	3: 90,739,028	V290M	probably damaging	Het
Plxna2	G	A	1: 194,644,096	V113I	probably benign	Het
Prkch	T	A	12: 73,702,589		probably benign	Het
Rabgef1	G	T	5: 130,208,724	E213*	probably null	Het
Rdh16f2	T	A	10: 127,866,664	C37S	probably damaging	Het
Reln	A	G	5: 22,010,127	Y1109H	probably damaging	Het
Scn7a	A	T	2: 66,741,982	L215*	probably null	Het
Slc25a33	A	T	4: 149,744,919	L261H	probably damaging	Het
Slc28a3	A	T	13: 58,569,411		probably null	Het
Slc38a6	T	C	12: 73,351,803	I369T	probably benign	Het
Tgm4	A	T	9: 123,062,382		probably benign	Het
Tnr	A	G	1: 159,861,245	I426V	probably benign	Het
Vmn1r216	A	G	13: 23,099,404	I86V	probably benign	Het
Zfp326	A	T	5: 105,896,533	I286F	probably damaging	Het

Other mutations in Wwc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01161:Wwc1	APN	11	35867276	missense	probably damaging	1.00
IGL01401:Wwc1	APN	11	35898618	critical splice donor site	probably null
IGL01771:Wwc1	APN	11	35853358	critical splice donor site	probably null
IGL01804:Wwc1	APN	11	35841924	missense	probably damaging	1.00
IGL02079:Wwc1	APN	11	35876058	missense	probably damaging	1.00
IGL02201:Wwc1	APN	11	35844151	splice site	probably benign
IGL03376:Wwc1	APN	11	35852294	missense	possibly damaging	0.80
IGL03403:Wwc1	APN	11	35915284	missense	possibly damaging	0.94
P0008:Wwc1	UTSW	11	35853351	splice site	probably benign
R0277:Wwc1	UTSW	11	35852348	missense	probably damaging	0.99
R0321:Wwc1	UTSW	11	35841810	nonsense	probably null
R0323:Wwc1	UTSW	11	35852348	missense	probably damaging	0.99
R0629:Wwc1	UTSW	11	35853472	missense	probably benign	0.18
R1302:Wwc1	UTSW	11	35844157	missense	probably damaging	1.00
R1769:Wwc1	UTSW	11	35861844	missense	probably benign
R1870:Wwc1	UTSW	11	35861945	missense	probably damaging	1.00
R2000:Wwc1	UTSW	11	35876547	missense	probably damaging	1.00
R2074:Wwc1	UTSW	11	35889353	missense	possibly damaging	0.62
R2138:Wwc1	UTSW	11	35841887	missense	possibly damaging	0.47
R2140:Wwc1	UTSW	11	35870528	missense	probably benign	0.01
R2680:Wwc1	UTSW	11	35875929	missense	probably benign	0.23
R3864:Wwc1	UTSW	11	35910316	missense	probably damaging	1.00
R4773:Wwc1	UTSW	11	35867296	missense	probably benign
R4926:Wwc1	UTSW	11	35889400	missense	probably benign	0.17
R4980:Wwc1	UTSW	11	35888103	missense	possibly damaging	0.93
R4990:Wwc1	UTSW	11	35876566	missense	probably benign	0.00
R5044:Wwc1	UTSW	11	35883345	missense	probably benign	0.45
R5238:Wwc1	UTSW	11	35875896	missense	probably benign	0.02
R5421:Wwc1	UTSW	11	35876063	missense	possibly damaging	0.81
R5421:Wwc1	UTSW	11	35910296	missense	possibly damaging	0.93
R5461:Wwc1	UTSW	11	35867372	missense	probably damaging	1.00
R5705:Wwc1	UTSW	11	35876596	missense	probably damaging	0.99
R5847:Wwc1	UTSW	11	35867326	missense	probably damaging	1.00
R5993:Wwc1	UTSW	11	35852336	missense	probably benign	0.17
R6006:Wwc1	UTSW	11	35870982	missense	probably null	1.00
R6006:Wwc1	UTSW	11	35889273	missense	probably damaging	0.98
R6516:Wwc1	UTSW	11	35867302	missense	probably benign	0.05
R6519:Wwc1	UTSW	11	35853437	missense	probably benign	0.04
R6520:Wwc1	UTSW	11	35853437	missense	probably benign	0.04
R6525:Wwc1	UTSW	11	35853437	missense	probably benign	0.04
R6526:Wwc1	UTSW	11	35853437	missense	probably benign	0.04
R6527:Wwc1	UTSW	11	35853437	missense	probably benign	0.04
R6528:Wwc1	UTSW	11	35853437	missense	probably benign	0.04
R7060:Wwc1	UTSW	11	35915176	missense	possibly damaging	0.74
R7156:Wwc1	UTSW	11	35897374	critical splice donor site	probably null
R7448:Wwc1	UTSW	11	35875706	missense	probably benign
R7586:Wwc1	UTSW	11	35844195	missense	possibly damaging	0.69
R7793:Wwc1	UTSW	11	35869109	missense	probably benign	0.21
X0025:Wwc1	UTSW	11	35876040	missense	possibly damaging	0.95
Z1088:Wwc1	UTSW	11	35883482	missense	possibly damaging	0.62

Posted On

2012-04-20