Incidental Mutation 'R9619:Wwc1'
| ID |
726602 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wwc1
|
| Ensembl Gene |
ENSMUSG00000018849 |
| Gene Name |
WW, C2 and coiled-coil domain containing 1 |
| Synonyms |
Kibra |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9619 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
35729227-35871354 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35766779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 492
(F492S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018993]
|
| AlphaFold |
Q5SXA9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018993
AA Change: F492S
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000018993
Gene: ENSMUSG00000018849
AA Change: F492S
| 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: 99.7%
- 20x: 98.9%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
T |
C |
17: 14,101,566 (GRCm39) |
L1033P |
probably damaging |
Het |
| Agrn |
A |
G |
4: 156,258,490 (GRCm39) |
I992T |
probably benign |
Het |
| Akap9 |
A |
T |
5: 4,094,833 (GRCm39) |
E2209V |
probably damaging |
Het |
| Arfip1 |
C |
T |
3: 84,435,081 (GRCm39) |
G76E |
probably benign |
Het |
| Arsk |
T |
C |
13: 76,223,151 (GRCm39) |
T149A |
probably damaging |
Het |
| Caap1 |
A |
G |
4: 94,444,718 (GRCm39) |
V75A |
possibly damaging |
Het |
| Cenpf |
A |
G |
1: 189,385,965 (GRCm39) |
V2105A |
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,436,827 (GRCm39) |
F571S |
probably benign |
Het |
| Crx |
A |
T |
7: 15,602,185 (GRCm39) |
D164E |
probably benign |
Het |
| Csgalnact1 |
A |
G |
8: 68,854,006 (GRCm39) |
V265A |
probably damaging |
Het |
| Dchs1 |
C |
T |
7: 105,413,662 (GRCm39) |
R1051Q |
probably benign |
Het |
| Dld |
A |
T |
12: 31,382,390 (GRCm39) |
L471* |
probably null |
Het |
| Dmrtb1 |
G |
T |
4: 107,540,847 (GRCm39) |
H171Q |
probably benign |
Het |
| Dnajc12 |
G |
A |
10: 63,233,075 (GRCm39) |
R72Q |
probably damaging |
Het |
| Dpf1 |
A |
G |
7: 29,012,618 (GRCm39) |
H237R |
probably benign |
Het |
| Dsg1c |
T |
A |
18: 20,416,499 (GRCm39) |
L800Q |
probably damaging |
Het |
| Dyrk2 |
A |
T |
10: 118,696,292 (GRCm39) |
L322Q |
probably damaging |
Het |
| Ect2 |
A |
G |
3: 27,201,026 (GRCm39) |
V149A |
probably benign |
Het |
| Efhc1 |
G |
A |
1: 21,037,603 (GRCm39) |
R260H |
probably benign |
Het |
| Emp2 |
G |
T |
16: 10,102,420 (GRCm39) |
Q131K |
probably benign |
Het |
| Ephb6 |
T |
C |
6: 41,594,249 (GRCm39) |
I593T |
possibly damaging |
Het |
| Fbln5 |
A |
C |
12: 101,723,552 (GRCm39) |
I383S |
probably damaging |
Het |
| Foxq1 |
A |
T |
13: 31,743,580 (GRCm39) |
E227D |
probably benign |
Het |
| Gm8237 |
A |
T |
14: 5,863,637 (GRCm38) |
N9K |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ifi44 |
T |
C |
3: 151,451,509 (GRCm39) |
N199S |
probably damaging |
Het |
| Ifna16 |
T |
G |
4: 88,594,762 (GRCm39) |
D111A |
probably benign |
Het |
| Igdcc3 |
A |
G |
9: 65,092,552 (GRCm39) |
D793G |
probably benign |
Het |
| Igfbp5 |
A |
G |
1: 72,901,543 (GRCm39) |
V270A |
probably benign |
Het |
| Kif20b |
A |
C |
19: 34,933,429 (GRCm39) |
D1345A |
probably damaging |
Het |
| Klhl9 |
T |
C |
4: 88,639,062 (GRCm39) |
H393R |
probably benign |
Het |
| Lad1 |
G |
T |
1: 135,755,521 (GRCm39) |
A266S |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 27,064,282 (GRCm39) |
L1233P |
probably damaging |
Het |
| Limch1 |
T |
C |
5: 67,015,284 (GRCm39) |
I52T |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,443,871 (GRCm39) |
F599L |
probably benign |
Het |
| Mfn1 |
A |
G |
3: 32,628,478 (GRCm39) |
D703G |
possibly damaging |
Het |
| Nexmif |
C |
T |
X: 103,129,841 (GRCm39) |
R692H |
possibly damaging |
Het |
| Ogfod2 |
G |
A |
5: 124,252,470 (GRCm39) |
G183D |
probably damaging |
Het |
| Or2z8 |
T |
C |
8: 72,811,605 (GRCm39) |
L27S |
probably damaging |
Het |
| Or5aq1b |
T |
A |
2: 86,902,140 (GRCm39) |
I113F |
possibly damaging |
Het |
| Pcgf6 |
T |
C |
19: 47,037,261 (GRCm39) |
T182A |
possibly damaging |
Het |
| Pcnx4 |
T |
A |
12: 72,622,282 (GRCm39) |
C1084S |
possibly damaging |
Het |
| Peg10 |
A |
G |
6: 4,755,316 (GRCm39) |
N366D |
probably benign |
Het |
| Prr16 |
T |
A |
18: 51,435,797 (GRCm39) |
I92K |
possibly damaging |
Het |
| Rbm39 |
A |
T |
2: 156,001,117 (GRCm39) |
N312K |
probably damaging |
Het |
| Rps10 |
G |
A |
17: 27,849,459 (GRCm39) |
R160C |
probably benign |
Het |
| Scrg1 |
G |
T |
8: 57,927,363 (GRCm39) |
V5L |
unknown |
Het |
| Slc39a4 |
T |
A |
15: 76,497,874 (GRCm39) |
H408L |
probably damaging |
Het |
| Slco1a5 |
T |
C |
6: 142,198,846 (GRCm39) |
E273G |
probably benign |
Het |
| Syne1 |
A |
C |
10: 5,090,909 (GRCm39) |
V815G |
probably benign |
Het |
| Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
| Treml1 |
T |
A |
17: 48,672,006 (GRCm39) |
F167I |
probably benign |
Het |
| Trpv2 |
T |
C |
11: 62,480,562 (GRCm39) |
V333A |
probably damaging |
Het |
| Ubqln3 |
A |
G |
7: 103,791,053 (GRCm39) |
F346L |
probably benign |
Het |
| Vmn2r15 |
T |
A |
5: 109,440,622 (GRCm39) |
Y412F |
possibly damaging |
Het |
| Vmn2r61 |
A |
G |
7: 41,926,136 (GRCm39) |
N547S |
probably damaging |
Het |
| Vopp1 |
G |
A |
6: 57,731,617 (GRCm39) |
P125S |
probably benign |
Het |
| Zfp114 |
A |
G |
7: 23,880,077 (GRCm39) |
E142G |
probably benign |
Het |
| Zfp715 |
A |
C |
7: 42,949,104 (GRCm39) |
Y285* |
probably null |
Het |
| Zwilch |
A |
G |
9: 64,057,440 (GRCm39) |
V442A |
probably benign |
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 |
|
|
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 |
|
|
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'- CTGTGTCTTCAAACTCCAGCG -3'
(R):5'- CATGCAGTCCCTGTCTTCAG -3'
Sequencing Primer
(F):5'- CAGGAAGGCATCTCCAGTCAG -3'
(R):5'- CACTGACCTCTATTATGACC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation