Incidental Mutation 'R2138:Wwc1'
ID |
235978 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wwc1
|
Ensembl Gene |
ENSMUSG00000018849 |
Gene Name |
WW, C2 and coiled-coil domain containing 1 |
Synonyms |
Kibra |
MMRRC Submission |
040141-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2138 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
35729227-35871354 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 35732714 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 998
(T998I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000018993
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018993]
|
AlphaFold |
Q5SXA9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018993
AA Change: T998I
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000018993 Gene: ENSMUSG00000018849 AA Change: T998I
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: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aamp |
A |
G |
1: 74,323,122 (GRCm39) |
V6A |
probably benign |
Het |
Abcc6 |
A |
G |
7: 45,630,475 (GRCm39) |
F1262L |
probably damaging |
Het |
Acot13 |
A |
T |
13: 25,002,188 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
T |
C |
13: 81,593,439 (GRCm39) |
I4183V |
probably benign |
Het |
Aff4 |
T |
G |
11: 53,263,339 (GRCm39) |
S120A |
possibly damaging |
Het |
Afp |
A |
G |
5: 90,647,506 (GRCm39) |
E250G |
probably damaging |
Het |
Ankrd34b |
A |
T |
13: 92,575,914 (GRCm39) |
D382V |
probably damaging |
Het |
Arhgef19 |
A |
T |
4: 140,978,111 (GRCm39) |
I577F |
probably damaging |
Het |
Arl6 |
A |
G |
16: 59,442,830 (GRCm39) |
|
probably benign |
Het |
Atp2b2 |
A |
T |
6: 113,773,268 (GRCm39) |
M333K |
probably benign |
Het |
Atp8b3 |
C |
A |
10: 80,362,939 (GRCm39) |
A635S |
possibly damaging |
Het |
Baiap2 |
A |
G |
11: 119,847,928 (GRCm39) |
T19A |
possibly damaging |
Het |
Bcar3 |
A |
G |
3: 122,306,645 (GRCm39) |
D206G |
probably damaging |
Het |
Ccdc162 |
A |
T |
10: 41,457,293 (GRCm39) |
M85K |
probably benign |
Het |
Clec4a4 |
A |
G |
6: 123,000,937 (GRCm39) |
N217D |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 15,979,088 (GRCm39) |
Y2832C |
probably damaging |
Het |
Cubn |
A |
G |
2: 13,449,189 (GRCm39) |
I962T |
probably damaging |
Het |
Dennd4a |
A |
G |
9: 64,796,619 (GRCm39) |
Y852C |
probably damaging |
Het |
Dhcr24 |
G |
T |
4: 106,429,499 (GRCm39) |
E191* |
probably null |
Het |
Dusp12 |
G |
A |
1: 170,708,166 (GRCm39) |
Q114* |
probably null |
Het |
Elfn2 |
G |
T |
15: 78,558,238 (GRCm39) |
T103K |
probably benign |
Het |
Eme1 |
A |
T |
11: 94,539,018 (GRCm39) |
V314E |
probably damaging |
Het |
Epb41l3 |
A |
G |
17: 69,514,875 (GRCm39) |
E4G |
probably damaging |
Het |
Exoc6b |
A |
T |
6: 84,966,464 (GRCm39) |
L170Q |
probably damaging |
Het |
Fbln5 |
C |
T |
12: 101,728,179 (GRCm39) |
M261I |
probably benign |
Het |
Fgf22 |
T |
C |
10: 79,592,435 (GRCm39) |
V64A |
probably damaging |
Het |
Gak |
C |
T |
5: 108,754,743 (GRCm39) |
|
probably null |
Het |
Gatad2b |
T |
A |
3: 90,259,420 (GRCm39) |
S401R |
probably damaging |
Het |
Gen1 |
A |
T |
12: 11,291,622 (GRCm39) |
S722R |
probably damaging |
Het |
Gm10754 |
A |
T |
10: 97,518,132 (GRCm39) |
|
probably benign |
Het |
Grid2 |
G |
A |
6: 64,322,782 (GRCm39) |
R594Q |
probably damaging |
Het |
Grm7 |
C |
A |
6: 110,623,098 (GRCm39) |
N90K |
probably damaging |
Het |
Herc1 |
G |
A |
9: 66,377,589 (GRCm39) |
V3452M |
possibly damaging |
Het |
Il22ra2 |
T |
A |
10: 19,508,618 (GRCm39) |
F215L |
probably benign |
Het |
Kank1 |
G |
A |
19: 25,389,117 (GRCm39) |
G930D |
probably benign |
Het |
Klra3 |
A |
T |
6: 130,310,121 (GRCm39) |
V133D |
probably benign |
Het |
Lims2 |
A |
G |
18: 32,088,460 (GRCm39) |
E220G |
possibly damaging |
Het |
Mbd3l2 |
A |
T |
9: 18,356,254 (GRCm39) |
D193V |
probably damaging |
Het |
Mbl1 |
T |
A |
14: 40,875,648 (GRCm39) |
I34K |
possibly damaging |
Het |
Mgam |
C |
T |
6: 40,733,384 (GRCm39) |
P839S |
probably damaging |
Het |
Mmp9 |
G |
T |
2: 164,794,387 (GRCm39) |
E460* |
probably null |
Het |
Mov10 |
T |
C |
3: 104,711,558 (GRCm39) |
H316R |
probably benign |
Het |
Ms4a18 |
A |
T |
19: 10,974,695 (GRCm39) |
V332D |
possibly damaging |
Het |
Myo15b |
T |
C |
11: 115,774,633 (GRCm39) |
S2082P |
probably benign |
Het |
Myrfl |
G |
A |
10: 116,631,443 (GRCm39) |
T706I |
probably benign |
Het |
Nampt |
C |
A |
12: 32,888,421 (GRCm39) |
H191N |
possibly damaging |
Het |
Niban1 |
G |
A |
1: 151,572,002 (GRCm39) |
V316M |
probably damaging |
Het |
Nphp3 |
A |
G |
9: 103,903,102 (GRCm39) |
E693G |
possibly damaging |
Het |
Obscn |
A |
T |
11: 58,894,491 (GRCm39) |
Y1191* |
probably null |
Het |
Or10z1 |
A |
T |
1: 174,078,302 (GRCm39) |
|
probably null |
Het |
Or1r1 |
A |
T |
11: 73,875,129 (GRCm39) |
Y102N |
probably damaging |
Het |
Or7a40 |
A |
G |
16: 16,491,069 (GRCm39) |
Y259H |
probably damaging |
Het |
Osbpl10 |
A |
G |
9: 115,061,202 (GRCm39) |
N760S |
probably benign |
Het |
Otof |
A |
G |
5: 30,619,114 (GRCm39) |
V10A |
probably benign |
Het |
Pkhd1l1 |
A |
C |
15: 44,364,853 (GRCm39) |
E664A |
probably damaging |
Het |
Pnp2 |
T |
C |
14: 51,201,161 (GRCm39) |
S178P |
probably damaging |
Het |
Pvr |
G |
A |
7: 19,650,927 (GRCm39) |
T199I |
probably damaging |
Het |
Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
Rnaseh2b |
T |
C |
14: 62,598,794 (GRCm39) |
V173A |
probably benign |
Het |
Septin12 |
C |
T |
16: 4,810,070 (GRCm39) |
R155H |
probably damaging |
Het |
Slco6d1 |
G |
T |
1: 98,371,385 (GRCm39) |
R290L |
probably benign |
Het |
Snx32 |
A |
G |
19: 5,546,157 (GRCm39) |
V335A |
probably damaging |
Het |
Son |
T |
C |
16: 91,456,260 (GRCm39) |
V1669A |
possibly damaging |
Het |
Speer1f |
A |
T |
5: 11,469,052 (GRCm39) |
R68* |
probably null |
Het |
Tbata |
C |
T |
10: 61,015,063 (GRCm39) |
T116I |
probably benign |
Het |
Tdrd1 |
T |
A |
19: 56,831,021 (GRCm39) |
S279T |
probably benign |
Het |
Thsd7a |
A |
T |
6: 12,471,072 (GRCm39) |
Y515* |
probably null |
Het |
Tmem102 |
T |
G |
11: 69,695,940 (GRCm39) |
L40F |
probably damaging |
Het |
Tmem169 |
A |
G |
1: 72,340,155 (GRCm39) |
N195S |
probably damaging |
Het |
Tmem201 |
A |
T |
4: 149,802,537 (GRCm39) |
S613T |
probably damaging |
Het |
Tnfaip6 |
A |
T |
2: 51,942,344 (GRCm39) |
I218F |
possibly damaging |
Het |
Tube1 |
C |
A |
10: 39,023,347 (GRCm39) |
H331Q |
probably benign |
Het |
Xpc |
A |
T |
6: 91,475,104 (GRCm39) |
Y638* |
probably null |
Het |
Zdhhc4 |
A |
T |
5: 143,310,017 (GRCm39) |
Y80* |
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 |
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 |
35,801,123 (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'- TGGGATCACAGGATGCTGAG -3'
(R):5'- CTCGCAGTAAGAAAAGGGTGTC -3'
Sequencing Primer
(F):5'- TCACAGGATGCTGAGAGGCAG -3'
(R):5'- TGTCTGCACATAAAGGAAGGC -3'
|
Posted On |
2014-10-01 |