Incidental Mutation 'R6516:Wwc1'
ID |
520729 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wwc1
|
Ensembl Gene |
ENSMUSG00000018849 |
Gene Name |
WW, C2 and coiled-coil domain containing 1 |
Synonyms |
Kibra |
MMRRC Submission |
044643-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6516 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
35729227-35871354 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 35758129 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 739
(A739V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000018993
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018993]
|
AlphaFold |
Q5SXA9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018993
AA Change: A739V
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000018993 Gene: ENSMUSG00000018849 AA Change: A739V
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: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
Validation Efficiency |
100% (63/63) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930558K02Rik |
A |
T |
1: 161,780,235 (GRCm39) |
V93E |
probably benign |
Het |
Adam18 |
A |
G |
8: 25,164,703 (GRCm39) |
L4P |
probably damaging |
Het |
Adcy8 |
A |
T |
15: 64,571,236 (GRCm39) |
Y1136N |
probably damaging |
Het |
Adgrl3 |
A |
G |
5: 81,613,119 (GRCm39) |
Y184C |
probably damaging |
Het |
Ankrd6 |
G |
A |
4: 32,836,427 (GRCm39) |
R43W |
probably damaging |
Het |
Ano8 |
G |
T |
8: 71,934,424 (GRCm39) |
|
probably null |
Het |
Arhgap31 |
A |
G |
16: 38,429,766 (GRCm39) |
F370L |
possibly damaging |
Het |
C7 |
A |
G |
15: 5,086,563 (GRCm39) |
V26A |
probably damaging |
Het |
Cimap1a |
G |
A |
7: 140,428,718 (GRCm39) |
G128S |
probably damaging |
Het |
Clec4a2 |
C |
A |
6: 123,116,365 (GRCm39) |
Q153K |
probably damaging |
Het |
Cyp2c67 |
T |
A |
19: 39,605,873 (GRCm39) |
D341V |
probably damaging |
Het |
Ddo |
T |
A |
10: 40,507,741 (GRCm39) |
V46E |
probably damaging |
Het |
Deup1 |
A |
C |
9: 15,521,910 (GRCm39) |
M85R |
probably damaging |
Het |
Dmxl2 |
A |
T |
9: 54,323,960 (GRCm39) |
S1141R |
probably damaging |
Het |
Dnah2 |
A |
G |
11: 69,356,212 (GRCm39) |
F2147L |
probably benign |
Het |
Dock10 |
T |
C |
1: 80,518,178 (GRCm39) |
E1298G |
probably damaging |
Het |
Dock4 |
T |
A |
12: 40,781,898 (GRCm39) |
V701E |
possibly damaging |
Het |
Dthd1 |
A |
T |
5: 62,996,607 (GRCm39) |
K447N |
probably benign |
Het |
Eno2 |
G |
T |
6: 124,738,672 (GRCm39) |
|
probably null |
Het |
Fastkd5 |
T |
A |
2: 130,456,221 (GRCm39) |
T790S |
possibly damaging |
Het |
Fer1l4 |
C |
T |
2: 155,877,119 (GRCm39) |
V1139M |
probably damaging |
Het |
Gpbp1 |
A |
T |
13: 111,589,636 (GRCm39) |
H111Q |
probably benign |
Het |
Grk3 |
A |
T |
5: 113,109,415 (GRCm39) |
|
probably benign |
Het |
Itpr3 |
C |
T |
17: 27,310,344 (GRCm39) |
A403V |
probably benign |
Het |
Kcnc2 |
A |
G |
10: 112,297,905 (GRCm39) |
T610A |
probably benign |
Het |
Kcnh1 |
T |
A |
1: 192,101,089 (GRCm39) |
D560E |
possibly damaging |
Het |
Klc4 |
A |
T |
17: 46,953,181 (GRCm39) |
N116K |
probably damaging |
Het |
Krba1 |
C |
T |
6: 48,390,206 (GRCm39) |
Q656* |
probably null |
Het |
Mchr1 |
A |
G |
15: 81,122,069 (GRCm39) |
Y273C |
probably damaging |
Het |
Myh15 |
T |
A |
16: 48,957,996 (GRCm39) |
C938S |
probably benign |
Het |
Nutm1 |
T |
C |
2: 112,081,562 (GRCm39) |
E367G |
probably damaging |
Het |
Or10a3n |
A |
T |
7: 108,492,972 (GRCm39) |
I214K |
probably damaging |
Het |
Or4e2 |
A |
T |
14: 52,688,586 (GRCm39) |
T239S |
probably damaging |
Het |
Or5w18 |
A |
T |
2: 87,633,114 (GRCm39) |
Y127F |
possibly damaging |
Het |
Or8b48 |
A |
G |
9: 38,492,768 (GRCm39) |
N65S |
probably damaging |
Het |
Pikfyve |
G |
T |
1: 65,304,940 (GRCm39) |
M1697I |
probably benign |
Het |
Plcd1 |
A |
G |
9: 118,905,271 (GRCm39) |
S147P |
probably damaging |
Het |
Plin3 |
G |
A |
17: 56,593,223 (GRCm39) |
P113L |
probably damaging |
Het |
Pum3 |
C |
A |
19: 27,403,408 (GRCm39) |
S31I |
probably benign |
Het |
Robo1 |
T |
C |
16: 72,821,241 (GRCm39) |
V1327A |
probably benign |
Het |
Rpl15-ps6 |
A |
G |
15: 52,341,200 (GRCm39) |
|
noncoding transcript |
Het |
Rpl34 |
G |
A |
3: 130,522,716 (GRCm39) |
P50L |
probably benign |
Het |
Scnn1b |
T |
C |
7: 121,511,335 (GRCm39) |
S341P |
probably damaging |
Het |
Sh3bp5 |
A |
T |
14: 31,097,629 (GRCm39) |
M362K |
possibly damaging |
Het |
Slc24a5 |
A |
G |
2: 124,930,027 (GRCm39) |
T443A |
probably benign |
Het |
Slc25a12 |
T |
C |
2: 71,154,427 (GRCm39) |
Y81C |
probably damaging |
Het |
Slc43a3 |
A |
G |
2: 84,788,105 (GRCm39) |
T496A |
probably benign |
Het |
Smap2 |
C |
T |
4: 120,840,303 (GRCm39) |
|
probably null |
Het |
Sptbn5 |
T |
A |
2: 119,878,431 (GRCm39) |
|
probably benign |
Het |
Taar5 |
A |
G |
10: 23,847,564 (GRCm39) |
S321G |
possibly damaging |
Het |
Tbx21 |
T |
C |
11: 96,990,782 (GRCm39) |
I299V |
possibly damaging |
Het |
Tcerg1 |
T |
C |
18: 42,663,957 (GRCm39) |
|
probably null |
Het |
Tenm3 |
G |
C |
8: 48,870,257 (GRCm39) |
Q179E |
probably benign |
Het |
Tmem176a |
T |
G |
6: 48,821,002 (GRCm39) |
|
probably null |
Het |
Tmem236 |
T |
C |
2: 14,200,791 (GRCm39) |
S119P |
probably benign |
Het |
Tmprss11a |
C |
T |
5: 86,567,987 (GRCm39) |
V247M |
probably damaging |
Het |
Tnks1bp1 |
T |
C |
2: 84,901,071 (GRCm39) |
S1593P |
probably damaging |
Het |
Ttc9b |
T |
A |
7: 27,355,412 (GRCm39) |
D227E |
probably benign |
Het |
Usp33 |
A |
C |
3: 152,079,053 (GRCm39) |
Q435P |
probably benign |
Het |
Vti1a |
C |
T |
19: 55,369,390 (GRCm39) |
A94V |
probably damaging |
Het |
Wdr3 |
A |
G |
3: 100,052,992 (GRCm39) |
Y587H |
probably damaging |
Het |
Zfp628 |
C |
G |
7: 4,923,201 (GRCm39) |
Y474* |
probably null |
Het |
Zfp820 |
A |
T |
17: 22,038,354 (GRCm39) |
C325S |
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 |
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 |
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'- CTCAAAGCTTGTGGAGGCTG -3'
(R):5'- ATAAGACGTTCTGCACTCTCTC -3'
Sequencing Primer
(F):5'- GAGGCGAGCTGGTTGCAAAC -3'
(R):5'- GGATCTCTGTAATAGGTCAGCCC -3'
|
Posted On |
2018-06-06 |