Incidental Mutation 'R0321:Wwc1'
| ID |
35874 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wwc1
|
| Ensembl Gene |
ENSMUSG00000018849 |
| Gene Name |
WW, C2 and coiled-coil domain containing 1 |
| Synonyms |
Kibra |
| MMRRC Submission |
038531-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0321 (G1)
|
| Quality Score |
123 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
35729227-35871354 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 35732637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 1024
(Q1024*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018993]
|
| AlphaFold |
Q5SXA9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000018993
AA Change: Q1024*
|
| SMART Domains |
Protein: ENSMUSP00000018993
Gene: ENSMUSG00000018849
AA Change: Q1024*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.7%
|
| Validation Efficiency |
100% (79/79) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,314,620 (GRCm39) |
T353A |
probably benign |
Het |
| 4933402N03Rik |
T |
A |
7: 130,747,956 (GRCm39) |
Y12F |
probably benign |
Het |
| Acbd3 |
T |
G |
1: 180,579,870 (GRCm39) |
F505V |
probably damaging |
Het |
| Acod1 |
T |
C |
14: 103,292,565 (GRCm39) |
V363A |
probably benign |
Het |
| Adam28 |
T |
C |
14: 68,855,200 (GRCm39) |
Q647R |
probably damaging |
Het |
| Akr1c18 |
T |
A |
13: 4,185,243 (GRCm39) |
L296F |
probably damaging |
Het |
| Ap1b1 |
G |
A |
11: 4,982,464 (GRCm39) |
A588T |
probably benign |
Het |
| Armc8 |
A |
T |
9: 99,415,230 (GRCm39) |
I150K |
probably damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,164,251 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
T |
C |
3: 36,960,937 (GRCm39) |
|
probably null |
Het |
| Carmil3 |
C |
A |
14: 55,739,698 (GRCm39) |
D928E |
possibly damaging |
Het |
| Ccrl2 |
T |
C |
9: 110,885,279 (GRCm39) |
N73S |
probably damaging |
Het |
| Cdk9 |
C |
A |
2: 32,602,698 (GRCm39) |
|
probably benign |
Het |
| Cel |
G |
T |
2: 28,451,160 (GRCm39) |
Q66K |
probably benign |
Het |
| D930028M14Rik |
T |
A |
7: 24,854,991 (GRCm39) |
|
noncoding transcript |
Het |
| Dgka |
G |
C |
10: 128,556,952 (GRCm39) |
|
probably benign |
Het |
| Dlg1 |
T |
C |
16: 31,676,854 (GRCm39) |
V801A |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,900,416 (GRCm39) |
D3834G |
probably benign |
Het |
| Dnajc15 |
C |
T |
14: 78,112,273 (GRCm39) |
A23T |
possibly damaging |
Het |
| Ell2 |
T |
A |
13: 75,910,007 (GRCm39) |
L119Q |
probably damaging |
Het |
| Epha2 |
T |
C |
4: 141,035,716 (GRCm39) |
W51R |
probably damaging |
Het |
| F10 |
T |
C |
8: 13,103,413 (GRCm39) |
F266L |
possibly damaging |
Het |
| Fam110a |
T |
C |
2: 151,812,587 (GRCm39) |
N61S |
probably benign |
Het |
| Fam83c |
C |
T |
2: 155,671,620 (GRCm39) |
S605N |
probably benign |
Het |
| Fbxw15 |
C |
T |
9: 109,394,453 (GRCm39) |
V121I |
probably benign |
Het |
| Gart |
G |
A |
16: 91,419,925 (GRCm39) |
|
probably benign |
Het |
| Gfi1b |
A |
G |
2: 28,503,897 (GRCm39) |
F101S |
probably damaging |
Het |
| Gimap5 |
C |
G |
6: 48,727,449 (GRCm39) |
|
probably benign |
Het |
| Gpr180 |
T |
C |
14: 118,385,699 (GRCm39) |
|
probably null |
Het |
| Gsn |
T |
C |
2: 35,180,408 (GRCm39) |
F188L |
probably benign |
Het |
| Hivep3 |
T |
A |
4: 119,952,788 (GRCm39) |
I368N |
possibly damaging |
Het |
| Itih3 |
T |
A |
14: 30,634,063 (GRCm39) |
I153F |
probably damaging |
Het |
| Kdm8 |
A |
T |
7: 125,060,178 (GRCm39) |
Q360L |
probably damaging |
Het |
| Lars1 |
T |
C |
18: 42,335,697 (GRCm39) |
K1140E |
probably damaging |
Het |
| Mocs1 |
A |
G |
17: 49,740,286 (GRCm39) |
Y71C |
probably damaging |
Het |
| Mroh5 |
C |
T |
15: 73,661,892 (GRCm39) |
G433E |
probably damaging |
Het |
| Mrpl45 |
T |
A |
11: 97,217,764 (GRCm39) |
|
probably benign |
Het |
| Mtcl1 |
T |
A |
17: 66,686,426 (GRCm39) |
T827S |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,415,972 (GRCm39) |
S2973P |
probably benign |
Het |
| Mynn |
T |
C |
3: 30,661,706 (GRCm39) |
S263P |
probably benign |
Het |
| Myo1f |
A |
C |
17: 33,811,986 (GRCm39) |
D595A |
probably benign |
Het |
| Necab1 |
A |
T |
4: 14,960,083 (GRCm39) |
I288N |
probably damaging |
Het |
| Nutm2 |
T |
G |
13: 50,626,991 (GRCm39) |
M382R |
probably damaging |
Het |
| Oprm1 |
T |
C |
10: 6,779,183 (GRCm39) |
S131P |
probably damaging |
Het |
| Pcsk9 |
A |
G |
4: 106,301,891 (GRCm39) |
S619P |
probably benign |
Het |
| Phkg1 |
A |
T |
5: 129,898,365 (GRCm39) |
M1K |
probably null |
Het |
| Pigc |
C |
T |
1: 161,798,668 (GRCm39) |
Q217* |
probably null |
Het |
| Pik3r4 |
T |
A |
9: 105,525,906 (GRCm39) |
F259I |
probably damaging |
Het |
| Pkdcc |
A |
T |
17: 83,529,541 (GRCm39) |
|
probably benign |
Het |
| Pnpla5 |
G |
T |
15: 84,004,920 (GRCm39) |
L144M |
probably damaging |
Het |
| Prtg |
A |
T |
9: 72,755,307 (GRCm39) |
I259F |
possibly damaging |
Het |
| Prune2 |
T |
G |
19: 17,098,291 (GRCm39) |
L1265R |
possibly damaging |
Het |
| Prune2 |
C |
T |
19: 17,099,818 (GRCm39) |
A1774V |
probably benign |
Het |
| Rcn3 |
A |
G |
7: 44,738,139 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
C |
T |
11: 119,328,931 (GRCm39) |
Q2067* |
probably null |
Het |
| Sec14l1 |
T |
A |
11: 117,041,568 (GRCm39) |
|
probably benign |
Het |
| Serpinb3a |
C |
T |
1: 106,975,212 (GRCm39) |
W198* |
probably null |
Het |
| Smpdl3b |
A |
T |
4: 132,468,755 (GRCm39) |
V154E |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 100,008,719 (GRCm39) |
S1950P |
probably damaging |
Het |
| Sprr1a |
T |
C |
3: 92,391,609 (GRCm39) |
T131A |
probably benign |
Het |
| Tatdn2 |
T |
G |
6: 113,686,462 (GRCm39) |
L690W |
probably damaging |
Het |
| Tbc1d1 |
T |
C |
5: 64,496,937 (GRCm39) |
F864L |
probably damaging |
Het |
| Tmem8b |
C |
A |
4: 43,674,444 (GRCm39) |
R243S |
probably damaging |
Het |
| Tnfrsf11a |
T |
A |
1: 105,772,583 (GRCm39) |
C623* |
probably null |
Het |
| Tprg1l |
T |
C |
4: 154,243,812 (GRCm39) |
N115D |
probably damaging |
Het |
| Ube2t |
C |
T |
1: 134,895,538 (GRCm39) |
A4V |
possibly damaging |
Het |
| Vps41 |
G |
A |
13: 19,026,465 (GRCm39) |
|
probably benign |
Het |
| Wdr17 |
C |
T |
8: 55,149,303 (GRCm39) |
|
probably null |
Het |
| Zfand5 |
T |
A |
19: 21,253,879 (GRCm39) |
N27K |
probably damaging |
Het |
| Zfp142 |
A |
T |
1: 74,608,873 (GRCm39) |
C1641S |
probably damaging |
Het |
| Zfyve16 |
A |
G |
13: 92,629,042 (GRCm39) |
I1465T |
probably damaging |
Het |
| Zswim1 |
G |
A |
2: 164,667,947 (GRCm39) |
G400S |
probably benign |
Het |
| Zswim3 |
C |
T |
2: 164,662,279 (GRCm39) |
A253V |
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 |
|
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 |
35,801,123 (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'- AGACAGGACAGGGTTTCAGTCTAGC -3'
(R):5'- GGCAGGCATGAACATCATCTCCAC -3'
Sequencing Primer
(F):5'- GCTGTATCTGATGAAGGACTCAC -3'
(R):5'- GAACATCATCTCCACCCCCG -3'
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| Posted On |
2013-05-09 |
Incidental Mutation