Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01161:Wwc1'

53850

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 #

IGL01161

Quality Score

Status

Chromosome

Chromosomal Location

35729227-35871354 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35758103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 748 (D748Y)

Ref Sequence

ENSEMBL: ENSMUSP00000018993 (fasta)

Gene Model

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

AlphaFold

Q5SXA9

Predicted Effect

probably damaging
Transcript: ENSMUST00000018993
AA Change: D748Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000018993
Gene: ENSMUSG00000018849
AA Change: D748Y

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: ENSMUST00000127086

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	A	2: 103,535,463 (GRCm39)	D543E	probably benign	Het
Acad9	A	C	3: 36,144,274 (GRCm39)	N583T	possibly damaging	Het
Arhgap5	G	A	12: 52,563,643 (GRCm39)	V205M	probably damaging	Het
Arid1b	G	A	17: 5,392,674 (GRCm39)	R2068Q	probably damaging	Het
Bex3	T	C	X: 135,172,218 (GRCm39)	F60S	probably damaging	Het
Casd1	C	T	6: 4,619,833 (GRCm39)	P193S	possibly damaging	Het
Ceacam11	A	T	7: 17,712,435 (GRCm39)	I295F	possibly damaging	Het
Ceacam3	T	A	7: 16,885,782 (GRCm39)	N128K	probably benign	Het
Cyp1a2	C	T	9: 57,587,176 (GRCm39)	E372K	probably damaging	Het
Ddb1	T	G	19: 10,583,071 (GRCm39)	M1R	probably null	Het
Ecel1	T	C	1: 87,080,915 (GRCm39)	D329G	possibly damaging	Het
Fat2	T	C	11: 55,175,017 (GRCm39)	N1899D	probably benign	Het
Gli3	A	G	13: 15,722,983 (GRCm39)		probably null	Het
Gm20507	A	T	17: 33,863,727 (GRCm39)		probably benign	Het
Gml	T	G	15: 74,685,688 (GRCm39)	Y99S	probably damaging	Het
Gpr119	G	T	X: 47,762,125 (GRCm39)		probably benign	Het
Hcn1	T	C	13: 117,793,458 (GRCm39)	Y237H	unknown	Het
Hook2	G	A	8: 85,721,560 (GRCm39)	V273I	probably benign	Het
Il12rb2	T	C	6: 67,338,849 (GRCm39)		probably benign	Het
Kdm2a	A	G	19: 4,369,279 (GRCm39)	F1112S	probably benign	Het
Lpl	A	T	8: 69,345,277 (GRCm39)	K94*	probably null	Het
Lrrc8a	T	A	2: 30,145,822 (GRCm39)	L212Q	probably damaging	Het
Me2	A	T	18: 73,903,887 (GRCm39)		probably benign	Het
Mmp11	A	T	10: 75,762,655 (GRCm39)	M266K	probably benign	Het
Mprip	T	A	11: 59,622,399 (GRCm39)	V162E	possibly damaging	Het
Nsf	C	T	11: 103,752,711 (GRCm39)		probably benign	Het
Or56b2	T	C	7: 104,337,588 (GRCm39)	V122A	probably benign	Het
Pcif1	T	A	2: 164,727,708 (GRCm39)	L167H	probably damaging	Het
Reps1	T	C	10: 17,969,643 (GRCm39)	S249P	probably damaging	Het
Sdf4	T	A	4: 156,093,763 (GRCm39)	M299K	probably benign	Het
Slc30a7	A	G	3: 115,747,759 (GRCm39)	V344A	possibly damaging	Het
Svep1	G	A	4: 58,146,569 (GRCm39)	P358S	probably damaging	Het
Syt9	G	T	7: 107,024,356 (GRCm39)	R83L	probably damaging	Het
Tbc1d15	T	C	10: 115,038,435 (GRCm39)	I593V	probably benign	Het
Trio	T	A	15: 27,749,867 (GRCm39)	N1134I	probably damaging	Het
Trpv3	A	G	11: 73,187,544 (GRCm39)		probably benign	Het
Ugp2	T	A	11: 21,273,273 (GRCm39)	I449L	possibly damaging	Het
Usp24	C	A	4: 106,294,041 (GRCm39)	H2595N	probably benign	Het
Vat1l	A	G	8: 115,096,629 (GRCm39)	N370S	possibly damaging	Het
Zfyve9	G	A	4: 108,538,261 (GRCm39)	H1002Y	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
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
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

2013-06-28