Mutagenetix > Incidental Mutation

Incidental Mutation 'R5238:Wwc1'

400523

Institutional Source

Beutler Lab

Gene Symbol

Wwc1

Ensembl Gene

ENSMUSG00000018849

Gene Name

WW, C2 and coiled-coil domain containing 1

Synonyms

Kibra

MMRRC Submission

042809-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5238 (G1)

Quality Score

221

Status

Not validated

Chromosome

Chromosomal Location

35729227-35871354 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35766723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 511 (K511E)

Ref Sequence

ENSEMBL: ENSMUSP00000018993 (fasta)

Gene Model

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

AlphaFold

Q5SXA9

Predicted Effect

probably benign
Transcript: ENSMUST00000018993
AA Change: K511E

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000018993
Gene: ENSMUSG00000018849
AA Change: K511E

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

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	T	A	12: 70,210,142 (GRCm39)		probably null	Het
Adamtsl5	C	T	10: 80,181,192 (GRCm39)	G63D	probably damaging	Het
Armc9	T	A	1: 86,127,569 (GRCm39)	M68K	probably benign	Het
Atad2	A	C	15: 57,971,733 (GRCm39)	H381Q	possibly damaging	Het
Bclaf1	T	G	10: 20,208,130 (GRCm39)		probably benign	Het
Ccdc188	A	G	16: 18,037,038 (GRCm39)	E238G	probably damaging	Het
Cldn19	G	T	4: 119,112,930 (GRCm39)	C54F	probably damaging	Het
Clip1	T	C	5: 123,785,946 (GRCm39)	D246G	probably damaging	Het
Col20a1	T	C	2: 180,640,379 (GRCm39)	V512A	probably damaging	Het
Cyfip1	G	T	7: 55,541,779 (GRCm39)	A355S	probably benign	Het
Dffa	T	G	4: 149,188,760 (GRCm39)	L18R	probably benign	Het
Dnah8	G	A	17: 31,009,891 (GRCm39)	E3761K	probably damaging	Het
Dusp10	A	G	1: 183,769,210 (GRCm39)	T59A	possibly damaging	Het
Eed	T	C	7: 89,626,173 (GRCm39)	S67G	probably benign	Het
Fam181a	C	T	12: 103,282,392 (GRCm39)	A99V	probably benign	Het
Gm12185	G	A	11: 48,799,044 (GRCm39)	T483I	possibly damaging	Het
Htr3b	A	T	9: 48,848,542 (GRCm39)	C234*	probably null	Het
Kidins220	C	A	12: 25,053,009 (GRCm39)	T433K	probably benign	Het
Man2a1	T	C	17: 64,943,502 (GRCm39)	Y186H	probably damaging	Het
Mcm9	G	T	10: 53,506,093 (GRCm39)	S60R	possibly damaging	Het
Mst1r	T	A	9: 107,784,773 (GRCm39)	C144S	probably damaging	Het
Nckap5	A	G	1: 125,955,461 (GRCm39)	C364R	probably damaging	Het
Nptx2	T	C	5: 144,493,041 (GRCm39)	I376T	probably damaging	Het
Or2a14	T	C	6: 43,130,961 (GRCm39)	S241P	probably damaging	Het
Otogl	A	T	10: 107,604,834 (GRCm39)	C2191S	probably damaging	Het
Plxdc2	T	A	2: 16,655,026 (GRCm39)	F208L	probably damaging	Het
Robo3	A	C	9: 37,328,175 (GRCm39)	Y1339D	probably damaging	Het
Rsph9	G	T	17: 46,446,008 (GRCm39)	Y42*	probably null	Het
Slc39a1	T	A	3: 90,156,702 (GRCm39)	L86Q	probably null	Het
Slfn8	T	C	11: 82,904,214 (GRCm39)	D392G	probably damaging	Het
Tiprl	A	G	1: 165,043,337 (GRCm39)	V263A	probably benign	Het
Tmub2	A	G	11: 102,175,820 (GRCm39)		probably benign	Het
Trpm1	T	A	7: 63,918,702 (GRCm39)	F681I	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Uba3	A	T	6: 97,178,896 (GRCm39)	C68*	probably null	Het
Vmn1r158	T	A	7: 22,489,799 (GRCm39)	M137L	probably benign	Het
Vmn1r50	C	T	6: 90,084,465 (GRCm39)	A70V	possibly damaging	Het
Zfp600	T	C	4: 146,131,741 (GRCm39)		probably null	Het
Zng1	G	T	19: 24,897,994 (GRCm39)	T382K	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
IGL01161:Wwc1	APN	11	35,758,103 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGTCTTCAAACTCCAGCGGG -3'
(R):5'- AGCATGCAGTCCCTGTCTTC -3'

Sequencing Primer
(F):5'- AAACTCCAGCGGGGCCAG -3'
(R):5'- AGTAGCCCTGGGTCACTCAC -3'

Posted On

2016-07-06