Incidental Mutation 'R7925:Wwc1'
ID |
643285 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wwc1
|
Ensembl Gene |
ENSMUSG00000018849 |
Gene Name |
WW, C2 and coiled-coil domain containing 1 |
Synonyms |
Kibra |
MMRRC Submission |
045972-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7925 (G1)
|
Quality Score |
999 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
35729227-35871354 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35734990 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 962
(M962V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000018993
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018993]
|
AlphaFold |
Q5SXA9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018993
AA Change: M962V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000018993 Gene: ENSMUSG00000018849 AA Change: M962V
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: 99.9%
- 20x: 99.7%
|
Validation Efficiency |
100% (59/59) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
C |
T |
7: 40,643,506 (GRCm39) |
Q392* |
probably null |
Het |
4933427D14Rik |
A |
C |
11: 72,071,327 (GRCm39) |
L473V |
probably benign |
Het |
A930002H24Rik |
A |
T |
17: 64,170,392 (GRCm39) |
V132E |
unknown |
Het |
Abcc2 |
A |
G |
19: 43,795,551 (GRCm39) |
I436V |
probably benign |
Het |
Ahr |
G |
A |
12: 35,565,067 (GRCm39) |
Q103* |
probably null |
Het |
Asb15 |
T |
A |
6: 24,562,723 (GRCm39) |
H228Q |
probably benign |
Het |
Asphd1 |
T |
A |
7: 126,547,628 (GRCm39) |
Y225F |
probably damaging |
Het |
Atp2c1 |
A |
G |
9: 105,319,969 (GRCm39) |
M468T |
possibly damaging |
Het |
Brca1 |
A |
G |
11: 101,398,972 (GRCm39) |
I1540T |
probably benign |
Het |
Ccn5 |
G |
C |
2: 163,670,961 (GRCm39) |
R156T |
possibly damaging |
Het |
Cdh20 |
A |
T |
1: 104,912,473 (GRCm39) |
I576F |
probably damaging |
Het |
Chst11 |
T |
A |
10: 83,026,788 (GRCm39) |
S72T |
probably damaging |
Het |
Cldn17 |
T |
G |
16: 88,303,533 (GRCm39) |
K65N |
probably damaging |
Het |
Cldn22 |
T |
C |
8: 48,278,222 (GRCm39) |
I220T |
probably benign |
Het |
Coasy |
T |
G |
11: 100,974,522 (GRCm39) |
D229E |
probably benign |
Het |
Colec10 |
T |
C |
15: 54,325,767 (GRCm39) |
V199A |
probably damaging |
Het |
Cpn2 |
G |
T |
16: 30,079,619 (GRCm39) |
D27E |
probably damaging |
Het |
F5 |
T |
A |
1: 164,003,935 (GRCm39) |
|
probably null |
Het |
Fat3 |
C |
T |
9: 15,942,656 (GRCm39) |
V1239I |
possibly damaging |
Het |
Fbxl16 |
A |
G |
17: 26,035,880 (GRCm39) |
N159S |
probably benign |
Het |
Fhad1 |
A |
G |
4: 141,681,498 (GRCm39) |
I514T |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,929,443 (GRCm39) |
K3949R |
probably damaging |
Het |
Gm8126 |
A |
G |
14: 43,119,023 (GRCm39) |
N164S |
probably damaging |
Het |
Grm3 |
T |
A |
5: 9,639,880 (GRCm39) |
E55V |
probably benign |
Het |
Itgbl1 |
G |
A |
14: 124,210,735 (GRCm39) |
D478N |
possibly damaging |
Het |
Kcnt2 |
T |
A |
1: 140,282,247 (GRCm39) |
Y77* |
probably null |
Het |
Kdm4c |
T |
C |
4: 74,323,058 (GRCm39) |
S997P |
probably damaging |
Het |
Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
Lrrc28 |
T |
C |
7: 67,268,857 (GRCm39) |
Y71C |
probably damaging |
Het |
Lrrc45 |
T |
A |
11: 120,606,706 (GRCm39) |
W203R |
probably benign |
Het |
Lrrc66 |
A |
T |
5: 73,765,835 (GRCm39) |
C403S |
possibly damaging |
Het |
Ly6g6e |
A |
T |
17: 35,296,894 (GRCm39) |
E45V |
probably damaging |
Het |
Mgam |
C |
T |
6: 40,735,985 (GRCm39) |
T1574I |
probably damaging |
Het |
Msrb2 |
A |
T |
2: 19,388,091 (GRCm39) |
M80L |
probably benign |
Het |
Musk |
T |
A |
4: 58,367,513 (GRCm39) |
L592Q |
probably damaging |
Het |
Nlrp4a |
C |
A |
7: 26,150,011 (GRCm39) |
N539K |
probably benign |
Het |
Obscn |
C |
G |
11: 59,003,381 (GRCm39) |
E1306Q |
probably benign |
Het |
Opalin |
T |
A |
19: 41,052,242 (GRCm39) |
*144C |
probably null |
Het |
Or1e28-ps1 |
A |
G |
11: 73,615,362 (GRCm39) |
S163P |
unknown |
Het |
Or1l8 |
A |
G |
2: 36,817,371 (GRCm39) |
F252L |
possibly damaging |
Het |
Or4f4-ps1 |
A |
G |
2: 111,330,166 (GRCm39) |
S190G |
probably damaging |
Het |
Or9g4 |
T |
C |
2: 85,504,907 (GRCm39) |
E196G |
|
Het |
Pdgfra |
T |
A |
5: 75,353,079 (GRCm39) |
|
probably benign |
Het |
Pgam2 |
T |
A |
11: 5,753,007 (GRCm39) |
H196L |
possibly damaging |
Het |
Pgls |
T |
C |
8: 72,044,996 (GRCm39) |
S46P |
probably damaging |
Het |
Prrc2b |
A |
G |
2: 32,094,127 (GRCm39) |
E503G |
probably damaging |
Het |
Prss45 |
T |
C |
9: 110,670,103 (GRCm39) |
L304P |
unknown |
Het |
Rbm20 |
T |
A |
19: 53,801,753 (GRCm39) |
V87D |
probably damaging |
Het |
Rskr |
T |
C |
11: 78,182,449 (GRCm39) |
L86P |
probably damaging |
Het |
Serpinb8 |
T |
C |
1: 107,526,715 (GRCm39) |
L85S |
probably benign |
Het |
Sf3a2 |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
10: 80,640,271 (GRCm39) |
|
probably benign |
Het |
Sh2b2 |
A |
T |
5: 136,253,115 (GRCm39) |
H352Q |
probably benign |
Het |
Slc6a17 |
T |
C |
3: 107,403,056 (GRCm39) |
I124V |
probably damaging |
Het |
Smim10l1 |
G |
A |
6: 133,082,545 (GRCm39) |
V31M |
probably damaging |
Het |
Snx10 |
T |
C |
6: 51,557,301 (GRCm39) |
S78P |
probably benign |
Het |
Stard10 |
T |
C |
7: 100,991,838 (GRCm39) |
V187A |
probably damaging |
Het |
Svil |
C |
A |
18: 5,118,357 (GRCm39) |
D2146E |
probably benign |
Het |
Tsc22d4 |
A |
G |
5: 137,749,627 (GRCm39) |
D301G |
probably null |
Het |
Ube3c |
T |
A |
5: 29,851,429 (GRCm39) |
I752N |
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 |
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 |
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'- CGAGAGGTGAGTGCATCGTA -3'
(R):5'- GGGAGGTGATCTCTTCCTGT -3'
Sequencing Primer
(F):5'- TCCAGAGTGAACATCTGTCTG -3'
(R):5'- CTAAACCGCAGTGACAGT -3'
|
Posted On |
2020-08-07 |