Mutagenetix > Incidental Mutation

Incidental Mutation 'R0629:Wwc1'

57771

Institutional Source

Beutler Lab

Gene Symbol

Wwc1

Ensembl Gene

ENSMUSG00000018849

Gene Name

WW, C2 and coiled-coil domain containing 1

Synonyms

Kibra

MMRRC Submission

038818-MU

Accession Numbers

NCBI RefSeq: NM_170779.1; MGI: 2388637

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0629 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35838400-35980527 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35853472 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 841 (Y841C)

Ref Sequence

ENSEMBL: ENSMUSP00000018993 (fasta)

Gene Model

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

AlphaFold

Q5SXA9

Predicted Effect

probably benign
Transcript: ENSMUST00000018993
AA Change: Y841C

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000018993
Gene: ENSMUSG00000018849
AA Change: Y841C

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

Meta Mutation Damage Score

0.0628

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

100% (66/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	T	17: 45,507,547	D86V	probably damaging	Het
Adamts14	G	A	10: 61,211,624	Q733*	probably null	Het
Adcy10	A	G	1: 165,543,105	D651G	probably damaging	Het
Apcdd1	T	A	18: 62,933,970	C52S	probably damaging	Het
Bclaf1	T	C	10: 20,333,426	S463P	probably damaging	Het
Cabcoco1	T	C	10: 68,516,278	Y68C	probably damaging	Het
Cacna1f	G	A	X: 7,620,434	S888N	probably damaging	Het
Cacna1g	A	G	11: 94,409,543	C2134R	possibly damaging	Het
Cdc37	A	C	9: 21,140,768	M325R	possibly damaging	Het
Clca2	T	A	3: 145,072,239	M762L	probably benign	Het
Cntn3	C	T	6: 102,203,976	V753M	probably damaging	Het
Col6a6	A	T	9: 105,727,165		probably benign	Het
Dscaml1	A	G	9: 45,721,418	D1194G	probably damaging	Het
Egfr	G	A	11: 16,869,333	G288S	probably damaging	Het
Fbxl17	G	T	17: 63,471,414	N19K	probably damaging	Het
Fmo3	A	G	1: 162,958,227		probably benign	Het
Frmd6	T	C	12: 70,883,762	Y219H	probably damaging	Het
Fuca1	T	C	4: 135,925,644	V193A	possibly damaging	Het
Gm1141	G	C	X: 71,938,773	R296P	possibly damaging	Het
Gm7461	C	T	8: 4,677,769		noncoding transcript	Het
Gpc5	T	A	14: 115,552,239	N508K	possibly damaging	Het
Iqch	A	T	9: 63,425,382	D1019E	probably benign	Het
Isyna1	A	G	8: 70,594,708	Y27C	probably damaging	Het
Itgb8	T	G	12: 119,202,481	H105P	probably benign	Het
Kbtbd11	C	T	8: 15,027,572	P57L	probably benign	Het
Kcns3	A	C	12: 11,092,558	C47G	probably damaging	Het
Kif21b	A	T	1: 136,172,157		probably null	Het
Lama3	A	T	18: 12,419,245	H418L	possibly damaging	Het
Lrit3	A	G	3: 129,788,302	Y679H	probably damaging	Het
Lrrc19	T	A	4: 94,638,252	D356V	probably damaging	Het
Morc2b	A	G	17: 33,135,807	M997T	probably benign	Het
Mroh9	T	C	1: 163,060,636	H290R	possibly damaging	Het
Mtcl1	A	T	17: 66,338,142	S1886T	possibly damaging	Het
Muc20	T	C	16: 32,793,421	T529A	possibly damaging	Het
Myo7a	A	C	7: 98,085,466	L607R	probably damaging	Het
Myom2	T	A	8: 15,069,783	F180I	probably damaging	Het
Myt1l	G	A	12: 29,811,485	E89K	unknown	Het
Nek2	A	G	1: 191,831,317	N431S	probably benign	Het
Olfr1086	T	A	2: 86,676,529	H268L	possibly damaging	Het
Olfr169	A	T	16: 19,565,980	V301E	possibly damaging	Het
Oprm1	A	T	10: 6,832,604		probably null	Het
Oxsr1	A	G	9: 119,241,784		probably benign	Het
Pdgfrb	G	A	18: 61,078,648		probably null	Het
Proser1	C	A	3: 53,479,064	P789Q	probably benign	Het
Ptgs2	A	G	1: 150,101,037	Q7R	probably benign	Het
Rab3d	A	G	9: 21,914,686	V144A	probably benign	Het
Ralgapb	T	A	2: 158,439,547	L167H	probably damaging	Het
Ranbp3	A	G	17: 56,708,200	T301A	possibly damaging	Het
Rasgrf1	G	A	9: 89,984,269	V587M	probably damaging	Het
Sec16b	A	G	1: 157,564,863		probably benign	Het
Sin3b	T	C	8: 72,753,536		probably benign	Het
Slc10a2	T	C	8: 5,098,562	S128G	probably benign	Het
Tbl1xr1	G	A	3: 22,210,401	V507I	probably benign	Het
Tmem8b	T	G	4: 43,669,896		probably null	Het
Trak1	A	T	9: 121,367,167	T22S	probably benign	Het
Trim30d	A	G	7: 104,487,655	I114T	probably damaging	Het
Ttc13	A	T	8: 124,674,366	S624T	probably damaging	Het
Ttn	T	C	2: 76,828,130		probably benign	Het
Vipr1	T	A	9: 121,660,171	Y99*	probably null	Het
Vmn1r210	T	C	13: 22,827,874	K81E	probably damaging	Het
Xrcc4	A	G	13: 90,000,905		probably benign	Het
Zdhhc22	A	T	12: 86,988,297	I127N	probably damaging	Het
Zdhhc7	A	G	8: 120,088,046	L8P	possibly damaging	Het
Zfp664	C	A	5: 124,885,595	L18I	probably damaging	Het

Other mutations in Wwc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Wwc1	APN	11	35844202	missense	possibly damaging	0.82
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
BB002:Wwc1	UTSW	11	35844163	missense	probably benign	0.00
BB012:Wwc1	UTSW	11	35844163	missense	probably benign	0.00
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
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
R7925:Wwc1	UTSW	11	35844163	missense	probably benign	0.00
R8296:Wwc1	UTSW	11	35870557	splice site	probably benign
R8369:Wwc1	UTSW	11	35867371	missense	probably damaging	1.00
R8735:Wwc1	UTSW	11	35883407	missense	probably damaging	1.00
R8804:Wwc1	UTSW	11	35883317	missense	probably benign	0.30
R9081:Wwc1	UTSW	11	35891504	missense	probably benign	0.12
R9281:Wwc1	UTSW	11	35889384	missense	probably benign	0.03
R9561:Wwc1	UTSW	11	35979969	critical splice donor site	probably null
R9619:Wwc1	UTSW	11	35875952	missense	probably damaging	0.98
R9713:Wwc1	UTSW	11	35875749	missense	probably benign	0.33
X0025:Wwc1	UTSW	11	35876040	missense	possibly damaging	0.95
Z1088:Wwc1	UTSW	11	35883482	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- AGCCTTTTCTGACAGCCCAGACAC -3'
(R):5'- GCACTCAGATGCACGCATTCAGAC -3'

Sequencing Primer
(F):5'- GACAGCCCAGACACAGAGG -3'
(R):5'- cacacacacacacacacac -3'

Posted On

2013-07-11