Mutagenetix > Incidental Mutation

Incidental Mutation 'R0321:Wwc1'

35874

Institutional Source

Beutler Lab

Gene Symbol

Wwc1

Ensembl Gene

ENSMUSG00000018849

Gene Name

WW, C2 and coiled-coil domain containing 1

Synonyms

Kibra

MMRRC Submission

038531-MU

Accession Numbers

NCBI RefSeq: NM_170779.1; MGI: 2388637

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0321 (G1)

Quality Score

123

Status

Validated

Chromosome

Chromosomal Location

35838400-35980527 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 35841810 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1024 (Q1024*)

Ref Sequence

ENSEMBL: ENSMUSP00000018993 (fasta)

Gene Model

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

AlphaFold

Q5SXA9

Predicted Effect

probably null
Transcript: ENSMUST00000018993
AA Change: Q1024*

SMART Domains

Protein: ENSMUSP00000018993
Gene: ENSMUSG00000018849
AA Change: Q1024*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.7%

Validation Efficiency

100% (79/79)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,472,700	T353A	probably benign	Het
4932438A13Rik	T	C	3: 36,906,788		probably null	Het
4933402N03Rik	T	A	7: 131,146,227	Y12F	probably benign	Het
Acbd3	T	G	1: 180,752,305	F505V	probably damaging	Het
Acod1	T	C	14: 103,055,129	V363A	probably benign	Het
Adam28	T	C	14: 68,617,751	Q647R	probably damaging	Het
Akr1c18	T	A	13: 4,135,244	L296F	probably damaging	Het
Ap1b1	G	A	11: 5,032,464	A588T	probably benign	Het
Armc8	A	T	9: 99,533,177	I150K	probably damaging	Het
Bahcc1	T	C	11: 120,273,425		probably null	Het
Carmil3	C	A	14: 55,502,241	D928E	possibly damaging	Het
Ccrl2	T	C	9: 111,056,211	N73S	probably damaging	Het
Cdk9	C	A	2: 32,712,686		probably benign	Het
Cel	G	T	2: 28,561,148	Q66K	probably benign	Het
D930028M14Rik	T	A	7: 25,155,566		noncoding transcript	Het
Dgka	G	C	10: 128,721,083		probably benign	Het
Dlg1	T	C	16: 31,858,036	V801A	probably damaging	Het
Dnah10	A	G	5: 124,823,352	D3834G	probably benign	Het
Dnajc15	C	T	14: 77,874,833	A23T	possibly damaging	Het
Ell2	T	A	13: 75,761,888	L119Q	probably damaging	Het
Epha2	T	C	4: 141,308,405	W51R	probably damaging	Het
F10	T	C	8: 13,053,413	F266L	possibly damaging	Het
Fam110a	T	C	2: 151,970,667	N61S	probably benign	Het
Fam83c	C	T	2: 155,829,700	S605N	probably benign	Het
Fbxw15	C	T	9: 109,565,385	V121I	probably benign	Het
Gart	G	A	16: 91,623,037		probably benign	Het
Gfi1b	A	G	2: 28,613,885	F101S	probably damaging	Het
Gimap5	C	G	6: 48,750,515		probably benign	Het
Gpr180	T	C	14: 118,148,287		probably null	Het
Gsn	T	C	2: 35,290,396	F188L	probably benign	Het
Hivep3	T	A	4: 120,095,591	I368N	possibly damaging	Het
Itih3	T	A	14: 30,912,106	I153F	probably damaging	Het
Kdm8	A	T	7: 125,461,006	Q360L	probably damaging	Het
Lars	T	C	18: 42,202,632	K1140E	probably damaging	Het
Mocs1	A	G	17: 49,433,258	Y71C	probably damaging	Het
Mroh5	C	T	15: 73,790,043	G433E	probably damaging	Het
Mrpl45	T	A	11: 97,326,938		probably benign	Het
Mtcl1	T	A	17: 66,379,431	T827S	probably damaging	Het
Muc5b	T	C	7: 141,862,235	S2973P	probably benign	Het
Mynn	T	C	3: 30,607,557	S263P	probably benign	Het
Myo1f	A	C	17: 33,593,012	D595A	probably benign	Het
Necab1	A	T	4: 14,960,083	I288N	probably damaging	Het
Nutm2	T	G	13: 50,472,955	M382R	probably damaging	Het
Oprm1	T	C	10: 6,829,183	S131P	probably damaging	Het
Pcsk9	A	G	4: 106,444,694	S619P	probably benign	Het
Phkg1	A	T	5: 129,869,524	M1K	probably null	Het
Pigc	C	T	1: 161,971,099	Q217*	probably null	Het
Pik3r4	T	A	9: 105,648,707	F259I	probably damaging	Het
Pkdcc	A	T	17: 83,222,112		probably benign	Het
Pnpla5	G	T	15: 84,120,719	L144M	probably damaging	Het
Prtg	A	T	9: 72,848,025	I259F	possibly damaging	Het
Prune2	T	G	19: 17,120,927	L1265R	possibly damaging	Het
Prune2	C	T	19: 17,122,454	A1774V	probably benign	Het
Rcn3	A	G	7: 45,088,715		probably benign	Het
Rnf213	C	T	11: 119,438,105	Q2067*	probably null	Het
Sec14l1	T	A	11: 117,150,742		probably benign	Het
Serpinb3a	C	T	1: 107,047,482	W198*	probably null	Het
Smpdl3b	A	T	4: 132,741,444	V154E	probably damaging	Het
Spag17	T	C	3: 100,101,403	S1950P	probably damaging	Het
Sprr1a	T	C	3: 92,484,302	T131A	probably benign	Het
Tatdn2	T	G	6: 113,709,501	L690W	probably damaging	Het
Tbc1d1	T	C	5: 64,339,594	F864L	probably damaging	Het
Tmem8b	C	A	4: 43,674,444	R243S	probably damaging	Het
Tnfrsf11a	T	A	1: 105,844,857	C623*	probably null	Het
Tprgl	T	C	4: 154,159,355	N115D	probably damaging	Het
Ube2t	C	T	1: 134,967,800	A4V	possibly damaging	Het
Vps41	G	A	13: 18,842,295		probably benign	Het
Wdr17	C	T	8: 54,696,268		probably null	Het
Zfand5	T	A	19: 21,276,515	N27K	probably damaging	Het
Zfp142	A	T	1: 74,569,714	C1641S	probably damaging	Het
Zfyve16	A	G	13: 92,492,534	I1465T	probably damaging	Het
Zswim1	G	A	2: 164,826,027	G400S	probably benign	Het
Zswim3	C	T	2: 164,820,359	A253V	possibly 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
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
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'- AGACAGGACAGGGTTTCAGTCTAGC -3'
(R):5'- GGCAGGCATGAACATCATCTCCAC -3'

Sequencing Primer
(F):5'- GCTGTATCTGATGAAGGACTCAC -3'
(R):5'- GAACATCATCTCCACCCCCG -3'

Posted On

2013-05-09