Mutagenetix > Incidental Mutation

Incidental Mutation 'R6527:Wwc1'

522001

Institutional Source

Beutler Lab

Gene Symbol

Wwc1

Ensembl Gene

ENSMUSG00000018849

Gene Name

WW, C2 and coiled-coil domain containing 1

Synonyms

Kibra

MMRRC Submission

Accession Numbers

NCBI RefSeq: NM_170779.1; MGI: 2388637

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6527 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35838400-35980527 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35853437 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 853 (E853K)

Ref Sequence

ENSEMBL: ENSMUSP00000018993 (fasta)

Gene Model

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

AlphaFold

Q5SXA9

Predicted Effect

probably benign
Transcript: ENSMUST00000018993
AA Change: E853K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000018993
Gene: ENSMUSG00000018849
AA Change: E853K

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

0.0646

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,067,527	T826A	probably damaging	Het
Abca16	T	A	7: 120,477,772	I686N	possibly damaging	Het
Abcb6	T	C	1: 75,177,488		probably null	Het
Adgrl3	A	C	5: 81,787,517	E1299A	probably damaging	Het
Als2cr12	T	C	1: 58,692,413	M1V	probably null	Het
Amd2	A	C	10: 35,710,806	Y252D	probably damaging	Het
Cfap74	A	G	4: 155,422,265		probably null	Het
Dhx29	G	T	13: 112,932,542	K135N	probably damaging	Het
Dlg5	T	A	14: 24,190,448	D245V	possibly damaging	Het
Dscaml1	C	T	9: 45,712,184	Q83*	probably null	Het
Dsp	T	A	13: 38,195,873	L1599Q	probably damaging	Het
Duox2	A	G	2: 122,294,614	V369A	probably benign	Het
Gbe1	T	A	16: 70,433,672		probably null	Het
Gm7298	A	G	6: 121,769,710	K600R	probably benign	Het
Heatr4	C	T	12: 83,979,763	G240E	probably damaging	Het
Jakmip2	A	G	18: 43,556,524	V651A	possibly damaging	Het
Jam3	C	T	9: 27,155,344	R8Q	unknown	Het
Letm2	A	G	8: 25,592,506		probably benign	Het
Lmod3	T	C	6: 97,247,378	D494G	probably benign	Het
Mast2	T	C	4: 116,314,939	D604G	probably damaging	Het
Mif4gd	C	T	11: 115,609,275		probably null	Het
Msr1	T	C	8: 39,624,233	E112G	possibly damaging	Het
Mtus2	A	G	5: 148,277,598		probably null	Het
Muc4	A	G	16: 32,753,433	H1103R	probably benign	Het
Nudt14	T	A	12: 112,934,887	I198F	possibly damaging	Het
Olfr1341	T	A	4: 118,709,848	F147Y	possibly damaging	Het
Olfr353	T	C	2: 36,890,582	T89A	probably benign	Het
Olfr736	T	A	14: 50,393,428	L224*	probably null	Het
Osbpl8	T	C	10: 111,293,205	I884T	probably benign	Het
Podxl2	T	C	6: 88,842,930	N550S	probably damaging	Het
Ppp1r9a	A	G	6: 5,045,949	Y151C	probably damaging	Het
Prss42	T	C	9: 110,800,856	V226A	possibly damaging	Het
Psmd12	A	G	11: 107,488,968	I116V	probably damaging	Het
Psme4	A	C	11: 30,832,175	I872L	probably benign	Het
Rab11fip1	A	T	8: 27,174,392	V65E	probably damaging	Het
Ros1	T	C	10: 52,143,377	N700S	possibly damaging	Het
Slc15a4	G	A	5: 127,596,709	T547M	probably damaging	Het
Slfn3	T	A	11: 83,213,106	C268S	probably benign	Het
Smc5	T	C	19: 23,228,190	Q794R	probably benign	Het
Sqor	A	G	2: 122,809,286	Y434C	probably damaging	Het
Steap4	T	A	5: 7,978,502	L360H	probably damaging	Het
Sycp1	A	G	3: 102,898,887	V496A	probably benign	Het
Tmem161b	T	G	13: 84,272,264	M128R	probably benign	Het
Tmem59l	T	C	8: 70,486,125	E102G	probably damaging	Het
Tnks	A	T	8: 34,873,093	V457D	probably benign	Het
Tomt	A	G	7: 101,900,392	Y230H	probably damaging	Het
Trim37	A	G	11: 87,190,084	N561D	probably damaging	Het
V1ra8	T	A	6: 90,203,313	I166K	probably damaging	Het
Vmn1r56	A	G	7: 5,196,576	V14A	probably benign	Het
Vsig8	T	C	1: 172,560,358	V5A	possibly damaging	Het
Vwa8	A	T	14: 78,947,213	S384C	possibly damaging	Het
Zfp984	T	C	4: 147,755,924	N157D	probably benign	Het
Zzef1	G	A	11: 72,874,990	D1448N	probably benign	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
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
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'- TGCCACTTCTGAGCACAGTG -3'
(R):5'- CTCAGATGCACGCATTCAGAC -3'

Sequencing Primer
(F):5'- TTCTGAGCACAGTGCCCAC -3'
(R):5'- CAGCCGCATATTGAAGGTTC -3'

Posted On

2018-06-06