Incidental Mutation 'R5847:Wwc1'
| ID |
453687 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wwc1
|
| Ensembl Gene |
ENSMUSG00000018849 |
| Gene Name |
WW, C2 and coiled-coil domain containing 1 |
| Synonyms |
Kibra |
| MMRRC Submission |
044065-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5847 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
35838400-35980527 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35867326 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 731
(F731S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018993]
|
| AlphaFold |
Q5SXA9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018993
AA Change: F731S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018993
Gene: ENSMUSG00000018849
AA Change: F731S
| 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
|
| Meta Mutation Damage Score |
0.9201 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (62/62) |
| MGI Phenotype |
Strain: 5301655
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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600015I10Rik |
T |
A |
6: 48,933,478 (GRCm38) |
F701L |
probably damaging |
Het |
| 4931409K22Rik |
A |
T |
5: 24,544,166 (GRCm38) |
L778Q |
probably benign |
Het |
| Adgrg6 |
T |
A |
10: 14,426,777 (GRCm38) |
Y964F |
probably damaging |
Het |
| Akap3 |
T |
A |
6: 126,865,558 (GRCm38) |
L380Q |
probably damaging |
Het |
| Alpk1 |
A |
G |
3: 127,680,074 (GRCm38) |
I760T |
probably benign |
Het |
| Arhgap20 |
G |
A |
9: 51,824,976 (GRCm38) |
|
probably benign |
Het |
| Cacng3 |
T |
C |
7: 122,762,309 (GRCm38) |
F113S |
possibly damaging |
Het |
| Ccdc158 |
G |
T |
5: 92,627,480 (GRCm38) |
N955K |
probably benign |
Het |
| Ccdc63 |
T |
A |
5: 122,116,845 (GRCm38) |
M368L |
possibly damaging |
Het |
| Cnot2 |
T |
C |
10: 116,527,946 (GRCm38) |
T18A |
probably damaging |
Het |
| Ctnna2 |
A |
T |
6: 76,973,837 (GRCm38) |
D550E |
possibly damaging |
Het |
| Cyp2c37 |
C |
T |
19: 40,011,732 (GRCm38) |
R433W |
probably damaging |
Het |
| Dact2 |
A |
G |
17: 14,199,188 (GRCm38) |
S103P |
probably damaging |
Het |
| Dek |
A |
G |
13: 47,101,601 (GRCm38) |
|
probably benign |
Het |
| Dnah9 |
CAGTTGCTTAAA |
CA |
11: 66,095,240 (GRCm38) |
|
probably null |
Het |
| Dock4 |
A |
G |
12: 40,621,251 (GRCm38) |
Y23C |
probably damaging |
Het |
| Edar |
T |
A |
10: 58,603,179 (GRCm38) |
S344C |
probably damaging |
Het |
| Epg5 |
T |
C |
18: 78,030,055 (GRCm38) |
V2431A |
probably benign |
Het |
| Evc2 |
C |
T |
5: 37,404,724 (GRCm38) |
|
probably benign |
Het |
| Idh3b |
A |
T |
2: 130,284,028 (GRCm38) |
D41E |
probably benign |
Het |
| Igkv8-24 |
A |
T |
6: 70,216,972 (GRCm38) |
V84D |
probably damaging |
Het |
| Mgam |
T |
C |
6: 40,684,055 (GRCm38) |
I1118T |
probably benign |
Het |
| Mtmr3 |
A |
G |
11: 4,482,925 (GRCm38) |
V1116A |
probably damaging |
Het |
| Myoc |
A |
G |
1: 162,639,367 (GRCm38) |
Y35C |
probably damaging |
Het |
| Ncr1 |
A |
T |
7: 4,344,574 (GRCm38) |
D246V |
probably benign |
Het |
| Nphp3 |
A |
G |
9: 104,003,037 (GRCm38) |
E86G |
probably damaging |
Het |
| Olfr1097 |
A |
C |
2: 86,890,332 (GRCm38) |
V281G |
probably damaging |
Het |
| Olfr168 |
A |
T |
16: 19,530,326 (GRCm38) |
V198E |
probably damaging |
Het |
| Olfr678 |
A |
T |
7: 105,069,857 (GRCm38) |
Y130F |
probably benign |
Het |
| Pbld1 |
A |
T |
10: 63,076,414 (GRCm38) |
I275L |
probably benign |
Het |
| Pde12 |
A |
G |
14: 26,665,631 (GRCm38) |
V574A |
possibly damaging |
Het |
| Pdxk |
G |
T |
10: 78,445,038 (GRCm38) |
D189E |
probably benign |
Het |
| Pkhd1 |
C |
A |
1: 20,374,736 (GRCm38) |
E2276* |
probably null |
Het |
| Ppp1r10 |
A |
G |
17: 35,926,847 (GRCm38) |
N237S |
possibly damaging |
Het |
| Rheb |
T |
A |
5: 24,807,069 (GRCm38) |
Y131F |
probably benign |
Het |
| Rpgrip1l |
T |
C |
8: 91,304,985 (GRCm38) |
D88G |
probably damaging |
Het |
| Scgb2b33 |
T |
C |
7: 33,112,814 (GRCm38) |
|
noncoding transcript |
Het |
| Snx9 |
C |
A |
17: 5,924,621 (GRCm38) |
N461K |
possibly damaging |
Het |
| Tbc1d2b |
C |
A |
9: 90,209,724 (GRCm38) |
V842F |
probably damaging |
Het |
| Tgfbi |
G |
A |
13: 56,636,605 (GRCm38) |
E615K |
possibly damaging |
Het |
| Tmem51 |
A |
G |
4: 142,032,035 (GRCm38) |
M134T |
probably damaging |
Het |
| Tox4 |
A |
G |
14: 52,286,784 (GRCm38) |
D125G |
probably damaging |
Het |
| Trappc3 |
A |
T |
4: 126,273,978 (GRCm38) |
N110I |
probably damaging |
Het |
| Trim11 |
T |
A |
11: 58,990,593 (GRCm38) |
D437E |
probably damaging |
Het |
| Ttc23l |
T |
C |
15: 10,537,596 (GRCm38) |
N196S |
probably benign |
Het |
| Wnk1 |
C |
A |
6: 119,992,408 (GRCm38) |
G362V |
probably damaging |
Het |
| Wwp1 |
A |
T |
4: 19,662,174 (GRCm38) |
D140E |
possibly damaging |
Het |
| Zfp24 |
G |
A |
18: 24,018,038 (GRCm38) |
P17L |
possibly damaging |
Het |
| Zfp354b |
T |
C |
11: 50,923,216 (GRCm38) |
E294G |
probably damaging |
Het |
| Zfp853 |
C |
T |
5: 143,288,669 (GRCm38) |
V399M |
unknown |
Het |
| Zfp868 |
T |
C |
8: 69,611,652 (GRCm38) |
H344R |
probably damaging |
Het |
|
| Other mutations in Wwc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00432:Wwc1
|
APN |
11 |
35,844,202 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL01161:Wwc1
|
APN |
11 |
35,867,276 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01401:Wwc1
|
APN |
11 |
35,898,618 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01771:Wwc1
|
APN |
11 |
35,853,358 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01804:Wwc1
|
APN |
11 |
35,841,924 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02079:Wwc1
|
APN |
11 |
35,876,058 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02201:Wwc1
|
APN |
11 |
35,844,151 (GRCm38) |
splice site |
probably benign |
|
|
IGL03376:Wwc1
|
APN |
11 |
35,852,294 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL03403:Wwc1
|
APN |
11 |
35,915,284 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
BB002:Wwc1
|
UTSW |
11 |
35,844,163 (GRCm38) |
missense |
probably benign |
0.00 |
|
BB012:Wwc1
|
UTSW |
11 |
35,844,163 (GRCm38) |
missense |
probably benign |
0.00 |
|
P0008:Wwc1
|
UTSW |
11 |
35,853,351 (GRCm38) |
splice site |
probably benign |
|
|
R0277:Wwc1
|
UTSW |
11 |
35,852,348 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0321:Wwc1
|
UTSW |
11 |
35,841,810 (GRCm38) |
nonsense |
probably null |
|
|
R0323:Wwc1
|
UTSW |
11 |
35,852,348 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0629:Wwc1
|
UTSW |
11 |
35,853,472 (GRCm38) |
missense |
probably benign |
0.18 |
|
R1302:Wwc1
|
UTSW |
11 |
35,844,157 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1769:Wwc1
|
UTSW |
11 |
35,861,844 (GRCm38) |
missense |
probably benign |
|
|
R1870:Wwc1
|
UTSW |
11 |
35,861,945 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2000:Wwc1
|
UTSW |
11 |
35,876,547 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2074:Wwc1
|
UTSW |
11 |
35,889,353 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R2138:Wwc1
|
UTSW |
11 |
35,841,887 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R2140:Wwc1
|
UTSW |
11 |
35,870,528 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2680:Wwc1
|
UTSW |
11 |
35,875,929 (GRCm38) |
missense |
probably benign |
0.23 |
|
R3864:Wwc1
|
UTSW |
11 |
35,910,316 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4773:Wwc1
|
UTSW |
11 |
35,867,296 (GRCm38) |
missense |
probably benign |
|
|
R4926:Wwc1
|
UTSW |
11 |
35,889,400 (GRCm38) |
missense |
probably benign |
0.17 |
|
R4980:Wwc1
|
UTSW |
11 |
35,888,103 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4990:Wwc1
|
UTSW |
11 |
35,876,566 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5044:Wwc1
|
UTSW |
11 |
35,883,345 (GRCm38) |
missense |
probably benign |
0.45 |
|
R5238:Wwc1
|
UTSW |
11 |
35,875,896 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5421:Wwc1
|
UTSW |
11 |
35,876,063 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R5421:Wwc1
|
UTSW |
11 |
35,910,296 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5461:Wwc1
|
UTSW |
11 |
35,867,372 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5705:Wwc1
|
UTSW |
11 |
35,876,596 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5993:Wwc1
|
UTSW |
11 |
35,852,336 (GRCm38) |
missense |
probably benign |
0.17 |
|
R6006:Wwc1
|
UTSW |
11 |
35,889,273 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6006:Wwc1
|
UTSW |
11 |
35,870,982 (GRCm38) |
missense |
probably null |
1.00 |
|
R6516:Wwc1
|
UTSW |
11 |
35,867,302 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6519:Wwc1
|
UTSW |
11 |
35,853,437 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6520:Wwc1
|
UTSW |
11 |
35,853,437 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6525:Wwc1
|
UTSW |
11 |
35,853,437 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6526:Wwc1
|
UTSW |
11 |
35,853,437 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6527:Wwc1
|
UTSW |
11 |
35,853,437 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6528:Wwc1
|
UTSW |
11 |
35,853,437 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7060:Wwc1
|
UTSW |
11 |
35,915,176 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R7156:Wwc1
|
UTSW |
11 |
35,897,374 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7448:Wwc1
|
UTSW |
11 |
35,875,706 (GRCm38) |
missense |
probably benign |
|
|
R7586:Wwc1
|
UTSW |
11 |
35,844,195 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R7793:Wwc1
|
UTSW |
11 |
35,869,109 (GRCm38) |
missense |
probably benign |
0.21 |
|
R7925:Wwc1
|
UTSW |
11 |
35,844,163 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8296:Wwc1
|
UTSW |
11 |
35,870,557 (GRCm38) |
splice site |
probably benign |
|
|
R8369:Wwc1
|
UTSW |
11 |
35,867,371 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8735:Wwc1
|
UTSW |
11 |
35,883,407 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8804:Wwc1
|
UTSW |
11 |
35,883,317 (GRCm38) |
missense |
probably benign |
0.30 |
|
R9081:Wwc1
|
UTSW |
11 |
35,891,504 (GRCm38) |
missense |
probably benign |
0.12 |
|
R9281:Wwc1
|
UTSW |
11 |
35,889,384 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9561:Wwc1
|
UTSW |
11 |
35,979,969 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9619:Wwc1
|
UTSW |
11 |
35,875,952 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9713:Wwc1
|
UTSW |
11 |
35,875,749 (GRCm38) |
missense |
probably benign |
0.33 |
|
X0025:Wwc1
|
UTSW |
11 |
35,876,040 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
Z1088:Wwc1
|
UTSW |
11 |
35,883,482 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAAAGCTTGTGGAGGCTG -3'
(R):5'- ATAAGACGTTCTGCACTCTCTC -3'
Sequencing Primer
(F):5'- GCGAGCTGGTTGCAAAC -3'
(R):5'- GCACTCTCTCCTTCCCAGCTG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation