Mutagenetix > Incidental Mutations

Incidental Mutation 'R5044:Wwc1'

394268

Institutional Source

Beutler Lab

Gene Symbol

Wwc1

Ensembl Gene

ENSMUSG00000018849

Gene Name

WW, C2 and coiled-coil domain containing 1

Synonyms

Kibra

MMRRC Submission

042634-MU

Accession Numbers

NCBI RefSeq: NM_170779.1; MGI: 2388637

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5044 (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 35883345 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 363 (T363A)

Ref Sequence

ENSEMBL: ENSMUSP00000018993 (fasta)

Gene Model

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

AlphaFold

Q5SXA9

Predicted Effect

probably benign
Transcript: ENSMUST00000018993
AA Change: T363A

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000018993
Gene: ENSMUSG00000018849
AA Change: T363A

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

0.0762

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

96% (73/76)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,373,323	F3387I	possibly damaging	Het
Acacb	T	A	5: 114,166,027	S170R	probably benign	Het
Adamtsl4	A	G	3: 95,681,650		probably null	Het
Adgrv1	A	G	13: 81,488,931	C3464R	probably benign	Het
Apbb1	A	T	7: 105,565,682		probably benign	Het
Cad	A	G	5: 31,055,021	T23A	probably benign	Het
Cdca7	A	G	2: 72,483,415	R183G	probably benign	Het
Cdpf1	T	C	15: 85,809,312	T5A	probably benign	Het
Cep85	T	C	4: 134,156,179	D133G	probably damaging	Het
Chrna9	T	C	5: 65,971,016	L189P	probably damaging	Het
Clca1	A	C	3: 145,007,928		probably null	Het
Cntn1	G	T	15: 92,242,995	V201F	probably damaging	Het
Col4a3	A	G	1: 82,666,546	E352G	unknown	Het
Ddhd2	T	C	8: 25,752,137	Y237C	probably damaging	Het
Dnah6	A	C	6: 73,037,622	F3609V	probably benign	Het
Epha3	T	C	16: 63,602,287	K580R	possibly damaging	Het
Fam135b	T	C	15: 71,462,711	N878S	probably benign	Het
Fam71e2	T	C	7: 4,758,661	N351D	probably benign	Het
Fbn1	T	G	2: 125,329,102	T1938P	probably damaging	Het
Foxg1	T	C	12: 49,385,186	V234A	probably damaging	Het
Glt1d1	A	T	5: 127,644,414	N55I	probably benign	Het
Gm17641	C	A	3: 68,869,474		probably benign	Het
Gm7665	A	G	18: 16,274,731		noncoding transcript	Het
Hgf	A	C	5: 16,614,894	N541T	probably benign	Het
Hipk2	G	A	6: 38,818,879	P152S	probably benign	Het
Jarid2	C	T	13: 44,906,565	L720F	probably damaging	Het
Kifc5b	A	G	17: 26,924,787	E511G	probably damaging	Het
Ldlr	G	A	9: 21,735,242	A235T	probably benign	Het
Lmln	A	G	16: 33,074,180	D231G	possibly damaging	Het
Lrp1	A	G	10: 127,567,495	C2070R	probably damaging	Het
Mbl1	A	G	14: 41,158,724	T190A	possibly damaging	Het
Mpdz	A	T	4: 81,381,697	S355T	probably benign	Het
Muc19	C	T	15: 91,888,138		noncoding transcript	Het
Mycbp2	A	C	14: 103,139,235		probably null	Het
Naa20	T	C	2: 145,915,842	S164P	probably damaging	Het
Nme4	A	T	17: 26,093,833		probably benign	Het
Npas2	A	T	1: 39,347,506	R619*	probably null	Het
Nudt19	G	A	7: 35,555,746	T20I	possibly damaging	Het
Olfr1224-ps1	T	A	2: 89,156,939	K79*	probably null	Het
Olfr1447	A	G	19: 12,901,001	Y260H	probably damaging	Het
Pitpnc1	A	G	11: 107,296,228	Y90H	possibly damaging	Het
Rcor2	A	G	19: 7,269,785	T6A	probably benign	Het
Rif1	T	A	2: 52,109,928	S1131R	probably damaging	Het
Rtkn	T	A	6: 83,150,991	D377E	probably benign	Het
Rtn4rl2	T	A	2: 84,872,502	N242I	probably damaging	Het
Sbno2	G	A	10: 80,062,188	L719F	probably benign	Het
Scn11a	G	T	9: 119,819,831	D55E	probably damaging	Het
Setd1b	T	A	5: 123,151,866	I632N	unknown	Het
Spaca6	A	G	17: 17,831,196	T45A	probably benign	Het
Srpk2	A	T	5: 23,524,392	D416E	possibly damaging	Het
Sspo	A	T	6: 48,466,955		probably null	Het
Sycp1	A	T	3: 102,845,054	I804N	probably benign	Het
Tdp2	G	A	13: 24,831,826	R32Q	probably benign	Het
Tgfbr3	A	G	5: 107,136,929	V618A	possibly damaging	Het
Tmc3	C	T	7: 83,609,118	P439S	probably benign	Het
Tnxb	A	T	17: 34,717,483	D2740V	probably damaging	Het
Tspyl4	A	G	10: 34,297,937	T142A	probably benign	Het
Ttn	T	C	2: 76,880,441		probably benign	Het
Tubgcp4	T	C	2: 121,173,580	L34P	probably damaging	Het
Tubgcp6	G	T	15: 89,099,545		probably benign	Het
Unc79	T	A	12: 103,112,703	V1690E	probably benign	Het
Vps4b	T	C	1: 106,796,418		probably null	Het
Wtap	A	G	17: 12,967,638	S341P	possibly damaging	Het
Zbtb8a	G	A	4: 129,360,500	T67M	probably damaging	Het
Zfp865	T	C	7: 5,034,669		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
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
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'- ACAGGTCAGACTGGCATGTTC -3'
(R):5'- TAGGAAAACAACTTGTTCCCCAG -3'

Sequencing Primer
(F):5'- AGACTGGCATGTTCTCCCTTTTC -3'
(R):5'- GAAAACAACTTGTTCCCCAGTTCCC -3'

Posted On

2016-06-15