Mutagenetix > Incidental Mutation

Incidental Mutation 'R9713:Wwc1'

730325

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9713 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35729227-35871354 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35766576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 560 (A560S)

Ref Sequence

ENSEMBL: ENSMUSP00000018993 (fasta)

Gene Model

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

AlphaFold

Q5SXA9

Predicted Effect

probably benign
Transcript: ENSMUST00000018993
AA Change: A560S

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000018993
Gene: ENSMUSG00000018849
AA Change: A560S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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
1700024B05Rik	A	T	14: 41,820,060 (GRCm39)	I107F	probably benign	Het
Adam20	G	A	8: 41,248,490 (GRCm39)	R200H	probably benign	Het
Ahnak	GATCTCTAT	GAT	19: 8,984,393 (GRCm39)		probably benign	Het
Arfgef3	A	T	10: 18,528,556 (GRCm39)	I277N	probably damaging	Het
Atp11b	A	T	3: 35,885,560 (GRCm39)	Y851F	probably damaging	Het
Cdhr1	A	G	14: 36,801,751 (GRCm39)	S731P	probably damaging	Het
Csf2rb2	A	G	15: 78,176,730 (GRCm39)	S221P	possibly damaging	Het
Dact3	A	T	7: 16,620,292 (GRCm39)	I596F	unknown	Het
Eya4	A	T	10: 23,027,870 (GRCm39)	Y287*	probably null	Het
Folr2	T	C	7: 101,489,809 (GRCm39)	D153G	probably benign	Het
Gal3st2b	A	T	1: 93,866,409 (GRCm39)	I37L	probably benign	Het
H2ac8	G	A	13: 23,755,041 (GRCm39)	P81L	probably damaging	Het
Hectd1	A	G	12: 51,823,328 (GRCm39)	M1027T	probably benign	Het
Hectd4	A	T	5: 121,448,744 (GRCm39)	Y364F	probably benign	Het
Hsd17b2	A	T	8: 118,485,342 (GRCm39)		probably null	Het
Igkv4-74	A	G	6: 69,161,993 (GRCm39)	Y59H	probably damaging	Het
Ilvbl	T	C	10: 78,412,489 (GRCm39)	V70A	probably benign	Het
Klrh1	A	G	6: 129,752,359 (GRCm39)	V52A	possibly damaging	Het
Ly9	A	C	1: 171,428,756 (GRCm39)	I288S	probably damaging	Het
Muc5b	A	G	7: 141,416,678 (GRCm39)	E3208G	probably benign	Het
Myo1b	G	A	1: 51,818,766 (GRCm39)	T503I	possibly damaging	Het
Ntm	T	A	9: 29,090,327 (GRCm39)	I131F	possibly damaging	Het
Odad1	T	G	7: 45,578,562 (GRCm39)	V45G	probably damaging	Het
Or1p4-ps1	A	G	11: 74,208,078 (GRCm39)	T76A	probably damaging	Het
Or51f23c-ps1	T	C	7: 102,431,633 (GRCm39)	*317Q	probably null	Het
Or52ae7	C	T	7: 103,119,914 (GRCm39)	L223F	possibly damaging	Het
Or5b108	A	T	19: 13,168,727 (GRCm39)	Y232F	probably benign	Het
Or8k38	T	C	2: 86,488,041 (GRCm39)	T254A	possibly damaging	Het
Pbrm1	T	C	14: 30,828,123 (GRCm39)	S1317P	probably damaging	Het
Spaca6	T	A	17: 18,058,498 (GRCm39)	Y39*	probably null	Het
Spen	G	A	4: 141,244,331 (GRCm39)	R235C	unknown	Het
Sycp2l	C	A	13: 41,326,183 (GRCm39)	A746D	probably damaging	Het
Tgm3	A	G	2: 129,867,229 (GRCm39)	E158G	possibly damaging	Het
Trim26	A	T	17: 37,168,307 (GRCm39)	D324V	probably damaging	Het
Ttc9b	T	C	7: 27,353,475 (GRCm39)	S42P	probably benign	Het
Ttn	C	A	2: 76,682,434 (GRCm39)	E952*	probably null	Het
Ulk4	C	A	9: 120,873,862 (GRCm39)	E1190*	probably null	Het
Vmn1r85	A	T	7: 12,818,458 (GRCm39)	S229T	probably damaging	Het
Zfp787	A	G	7: 6,146,059 (GRCm39)		probably null	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
R5238:Wwc1	UTSW	11	35,766,723 (GRCm39)	missense	probably benign	0.02
R5421:Wwc1	UTSW	11	35,766,890 (GRCm39)	missense	possibly damaging	0.81
R5421:Wwc1	UTSW	11	35,801,123 (GRCm39)	missense	possibly damaging	0.93
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
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'- TGGTTCCCCACAAGGACATC -3'
(R):5'- ATGACCCGTTCGAGCAGTTG -3'

Sequencing Primer
(F):5'- AAGGACATCGTGCGCCTTAC -3'
(R):5'- CGTTCGAGCAGTTGGACTC -3'

Posted On

2022-10-06