Incidental Mutation 'R8369:Wwc1'
| ID |
646309 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wwc1
|
| Ensembl Gene |
ENSMUSG00000018849 |
| Gene Name |
WW, C2 and coiled-coil domain containing 1 |
| Synonyms |
Kibra |
| MMRRC Submission |
067739-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8369 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
35729227-35871354 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 35758198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 716
(T716I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018993]
|
| AlphaFold |
Q5SXA9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018993
AA Change: T716I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018993
Gene: ENSMUSG00000018849
AA Change: T716I
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
G |
A |
16: 90,852,657 (GRCm39) |
H160Y |
probably benign |
Het |
| Abcc4 |
T |
G |
14: 118,864,869 (GRCm39) |
I386L |
probably benign |
Het |
| Arap2 |
G |
A |
5: 62,761,669 (GRCm39) |
R1686* |
probably null |
Het |
| Arfgef3 |
A |
T |
10: 18,465,477 (GRCm39) |
I2122N |
probably benign |
Het |
| Arhgap44 |
A |
T |
11: 64,950,680 (GRCm39) |
D119E |
probably damaging |
Het |
| Atp2b2 |
C |
T |
6: 113,790,747 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
T |
A |
3: 37,065,752 (GRCm39) |
L9M |
|
Het |
| Brinp1 |
A |
T |
4: 68,716,936 (GRCm39) |
L304Q |
possibly damaging |
Het |
| C2cd3 |
T |
C |
7: 100,044,465 (GRCm39) |
V349A |
probably benign |
Het |
| Ccdc93 |
T |
C |
1: 121,405,597 (GRCm39) |
Y347H |
probably damaging |
Het |
| Ccdc93 |
T |
G |
1: 121,422,126 (GRCm39) |
I534S |
probably benign |
Het |
| Cyb5r4 |
A |
T |
9: 86,922,486 (GRCm39) |
D165V |
probably benign |
Het |
| Cygb |
G |
A |
11: 116,540,109 (GRCm39) |
T180I |
probably benign |
Het |
| Cyp4f15 |
T |
A |
17: 32,916,939 (GRCm39) |
S285R |
probably benign |
Het |
| Daxx |
G |
T |
17: 34,131,590 (GRCm39) |
C433F |
probably damaging |
Het |
| Dcaf6 |
T |
C |
1: 165,185,043 (GRCm39) |
E483G |
probably damaging |
Het |
| Dennd1a |
T |
A |
2: 37,938,766 (GRCm39) |
I115F |
probably damaging |
Het |
| Dnajc5b |
A |
G |
3: 19,664,796 (GRCm39) |
D198G |
probably damaging |
Het |
| Ercc1 |
T |
A |
7: 19,088,377 (GRCm39) |
C243* |
probably null |
Het |
| Ermard |
T |
C |
17: 15,273,560 (GRCm39) |
F382L |
probably damaging |
Het |
| Fer1l4 |
C |
A |
2: 155,861,680 (GRCm39) |
G1879V |
probably benign |
Het |
| Focad |
T |
A |
4: 88,150,905 (GRCm39) |
H516Q |
unknown |
Het |
| Gcsam |
T |
A |
16: 45,436,369 (GRCm39) |
W51R |
probably damaging |
Het |
| Ikbkb |
A |
G |
8: 23,181,097 (GRCm39) |
V122A |
probably benign |
Het |
| Iqgap2 |
A |
T |
13: 95,798,111 (GRCm39) |
S1065T |
probably damaging |
Het |
| Kif16b |
G |
A |
2: 142,553,777 (GRCm39) |
A1007V |
probably benign |
Het |
| Krt24 |
A |
T |
11: 99,173,534 (GRCm39) |
C262* |
probably null |
Het |
| Lrat |
T |
C |
3: 82,810,865 (GRCm39) |
E52G |
probably damaging |
Het |
| Misp3 |
T |
A |
8: 84,737,627 (GRCm39) |
H94L |
unknown |
Het |
| N4bp3 |
A |
G |
11: 51,535,253 (GRCm39) |
L312P |
probably damaging |
Het |
| Naxe |
T |
C |
3: 87,963,994 (GRCm39) |
T246A |
probably benign |
Het |
| Pcolce2 |
A |
T |
9: 95,519,847 (GRCm39) |
M1L |
probably benign |
Het |
| Slc7a6 |
G |
A |
8: 106,919,796 (GRCm39) |
A270T |
probably damaging |
Het |
| Sord |
T |
A |
2: 122,076,976 (GRCm39) |
I27K |
probably benign |
Het |
| Srek1ip1 |
A |
G |
13: 104,970,798 (GRCm39) |
E83G |
probably benign |
Het |
| Srgap3 |
A |
C |
6: 112,699,779 (GRCm39) |
N1090K |
probably benign |
Het |
| Sult2a6 |
A |
C |
7: 13,987,327 (GRCm39) |
|
probably null |
Het |
| Tacc2 |
T |
A |
7: 130,223,888 (GRCm39) |
I191N |
probably damaging |
Het |
| Thoc3 |
A |
G |
13: 54,615,708 (GRCm39) |
S119P |
probably damaging |
Het |
| Tirap |
A |
G |
9: 35,100,052 (GRCm39) |
S211P |
probably benign |
Het |
| Tle4 |
T |
C |
19: 14,429,876 (GRCm39) |
T632A |
probably benign |
Het |
| Tnfaip8l2 |
T |
A |
3: 95,047,486 (GRCm39) |
I126F |
probably benign |
Het |
| Txnrd1 |
A |
G |
10: 82,710,480 (GRCm39) |
T114A |
probably benign |
Het |
| Vmn2r14 |
A |
G |
5: 109,369,342 (GRCm39) |
L77P |
probably damaging |
Het |
| Yod1 |
A |
G |
1: 130,645,360 (GRCm39) |
K47R |
probably benign |
Het |
| Zfhx2 |
A |
T |
14: 55,304,201 (GRCm39) |
M1261K |
probably benign |
Het |
| Zfhx3 |
T |
C |
8: 109,583,448 (GRCm39) |
I1105T |
possibly damaging |
Het |
| Zfp9 |
C |
A |
6: 118,441,353 (GRCm39) |
K436N |
probably damaging |
Het |
| Zfp979 |
T |
C |
4: 147,697,548 (GRCm39) |
H387R |
possibly 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 |
|
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 |
|
|
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'- AGGCTCTAAGGACTGAAGACC -3'
(R):5'- GAAGAGCAGTTGGTACCCTAG -3'
Sequencing Primer
(F):5'- CTGAAGACCAGGTGGACAGAC -3'
(R):5'- AGTTGGTACCCTAGAGCCCTTG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation