Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03376:Wwc1'

420497

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 #

IGL03376

Quality Score

Status

Chromosome

Chromosomal Location

35729227-35871354 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35743121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 900 (R900Q)

Ref Sequence

ENSEMBL: ENSMUSP00000018993 (fasta)

Gene Model

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

AlphaFold

Q5SXA9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018993
AA Change: R900Q

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000018993
Gene: ENSMUSG00000018849
AA Change: R900Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131001

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v1b2	T	C	8: 69,554,811 (GRCm39)		probably benign	Het
Ccdc122	A	G	14: 77,306,352 (GRCm39)	E41G	probably damaging	Het
Cdh3	C	T	8: 107,268,036 (GRCm39)	T357I	probably benign	Het
Cfap57	T	A	4: 118,441,917 (GRCm39)	Q717L	probably damaging	Het
Cfap58	A	T	19: 48,023,164 (GRCm39)	T859S	possibly damaging	Het
Cmtr1	C	T	17: 29,910,385 (GRCm39)	R497C	probably benign	Het
Csmd2	T	C	4: 128,411,464 (GRCm39)	I2494T	probably benign	Het
Dmkn	C	T	7: 30,470,667 (GRCm39)	T385I	possibly damaging	Het
Eml3	A	G	19: 8,911,154 (GRCm39)	D260G	probably damaging	Het
Gbf1	T	C	19: 46,250,960 (GRCm39)	F493L	possibly damaging	Het
Gjb5	C	T	4: 127,250,048 (GRCm39)	R32H	probably damaging	Het
Hpx	C	T	7: 105,241,458 (GRCm39)		probably benign	Het
Ikzf3	T	A	11: 98,379,779 (GRCm39)	H163L	probably damaging	Het
Irak3	G	A	10: 119,982,541 (GRCm39)		probably benign	Het
Itih5	G	A	2: 10,211,584 (GRCm39)	V275I	probably benign	Het
Klc1	G	T	12: 111,742,387 (GRCm39)	E174D	probably damaging	Het
Ly6g6e	A	G	17: 35,297,208 (GRCm39)	*108W	probably null	Het
Mcph1	T	C	8: 18,646,989 (GRCm39)	S31P	probably damaging	Het
Mettl4	A	T	17: 95,042,799 (GRCm39)	S346T	probably damaging	Het
Myo3a	A	T	2: 22,490,086 (GRCm39)		probably benign	Het
Or2ag19	T	A	7: 106,444,677 (GRCm39)	N286K	probably damaging	Het
Otol1	A	G	3: 69,934,845 (GRCm39)	E279G	probably damaging	Het
Pappa	T	A	4: 65,115,071 (GRCm39)	N722K	probably benign	Het
Pramel7	A	G	2: 87,319,947 (GRCm39)	S449P	probably damaging	Het
Rassf9	A	G	10: 102,381,059 (GRCm39)	N145S	probably damaging	Het
Robo2	T	C	16: 73,753,380 (GRCm39)	I158M	probably damaging	Het
Sbf1	A	G	15: 89,173,219 (GRCm39)		probably benign	Het
Slc30a8	C	T	15: 52,169,853 (GRCm39)	R27*	probably null	Het
Tmco2	T	A	4: 120,966,249 (GRCm39)	T36S	probably benign	Het
Tns4	T	C	11: 98,969,382 (GRCm39)	S360G	probably benign	Het
Vwa8	A	G	14: 79,420,574 (GRCm39)		probably null	Het
Zzef1	T	C	11: 72,767,377 (GRCm39)		probably benign	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
IGL03403:Wwc1	APN	11	35,806,111 (GRCm39)	missense	possibly damaging	0.94
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