Incidental Mutation 'R6526:Wwc1'
| ID |
521896 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wwc1
|
| Ensembl Gene |
ENSMUSG00000018849 |
| Gene Name |
WW, C2 and coiled-coil domain containing 1 |
| Synonyms |
Kibra |
| MMRRC Submission |
044652-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6526 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
35729227-35871354 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 35744264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 853
(E853K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018993]
|
| AlphaFold |
Q5SXA9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018993
AA Change: E853K
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000018993
Gene: ENSMUSG00000018849
AA Change: E853K
| 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: ENSMUST00000131001
|
| Meta Mutation Damage Score |
0.0646 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.5%
|
| Validation Efficiency |
100% (72/72) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
A |
G |
1: 74,323,331 (GRCm39) |
|
probably null |
Het |
| Abcc3 |
C |
T |
11: 94,250,198 (GRCm39) |
G975D |
probably benign |
Het |
| Abhd13 |
G |
A |
8: 10,037,777 (GRCm39) |
G125S |
probably damaging |
Het |
| Ache |
T |
A |
5: 137,288,906 (GRCm39) |
L204Q |
probably damaging |
Het |
| Acnat2 |
A |
G |
4: 49,383,497 (GRCm39) |
S19P |
probably benign |
Het |
| Adprh |
A |
G |
16: 38,267,638 (GRCm39) |
Y216H |
probably benign |
Het |
| Anapc1 |
T |
A |
2: 128,514,055 (GRCm39) |
K429* |
probably null |
Het |
| Anxa13 |
T |
C |
15: 58,208,353 (GRCm39) |
|
noncoding transcript |
Het |
| Aprt |
A |
C |
8: 123,303,555 (GRCm39) |
L6W |
probably damaging |
Het |
| Arhgef15 |
T |
C |
11: 68,840,820 (GRCm39) |
T569A |
probably damaging |
Het |
| Atp11a |
T |
C |
8: 12,914,999 (GRCm39) |
L1139P |
probably benign |
Het |
| Atp2b4 |
A |
G |
1: 133,639,467 (GRCm39) |
S1136P |
probably damaging |
Het |
| B9d1 |
T |
A |
11: 61,399,923 (GRCm39) |
Y90* |
probably null |
Het |
| Btla |
G |
A |
16: 45,059,457 (GRCm39) |
A54T |
probably damaging |
Het |
| Cd63 |
T |
C |
10: 128,747,358 (GRCm39) |
V35A |
probably benign |
Het |
| Chek2 |
T |
C |
5: 110,996,556 (GRCm39) |
F173L |
probably damaging |
Het |
| Cntnap3 |
T |
A |
13: 64,929,702 (GRCm39) |
N499I |
possibly damaging |
Het |
| Cog4 |
T |
C |
8: 111,608,418 (GRCm39) |
L738P |
probably damaging |
Het |
| Cops6 |
T |
C |
5: 138,162,162 (GRCm39) |
|
probably null |
Het |
| Cpeb1 |
T |
A |
7: 81,011,417 (GRCm39) |
I175F |
probably benign |
Het |
| Cyp3a16 |
C |
T |
5: 145,392,705 (GRCm39) |
D174N |
probably benign |
Het |
| Dnah6 |
T |
G |
6: 73,051,687 (GRCm39) |
I2984L |
probably benign |
Het |
| Dock10 |
A |
T |
1: 80,564,068 (GRCm39) |
I540N |
probably damaging |
Het |
| Elf5 |
A |
G |
2: 103,269,578 (GRCm39) |
Y53C |
probably damaging |
Het |
| Elmod2 |
T |
C |
8: 84,046,086 (GRCm39) |
T164A |
probably damaging |
Het |
| Elp1 |
T |
C |
4: 56,798,812 (GRCm39) |
|
probably null |
Het |
| Epn3 |
A |
G |
11: 94,385,758 (GRCm39) |
|
probably null |
Het |
| Fam151a |
A |
T |
4: 106,591,201 (GRCm39) |
I15F |
possibly damaging |
Het |
| Gm11115 |
T |
A |
5: 88,301,909 (GRCm39) |
|
probably null |
Het |
| Golga3 |
T |
A |
5: 110,352,761 (GRCm39) |
I884N |
probably damaging |
Het |
| Gria2 |
A |
T |
3: 80,599,776 (GRCm39) |
F703I |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Gtpbp2 |
A |
T |
17: 46,475,037 (GRCm39) |
|
probably null |
Het |
| Herc2 |
T |
C |
7: 55,807,078 (GRCm39) |
S2419P |
probably damaging |
Het |
| Inpp5d |
T |
C |
1: 87,603,972 (GRCm39) |
|
probably benign |
Het |
| Kdm2b |
C |
A |
5: 123,099,532 (GRCm39) |
V136F |
probably damaging |
Het |
| Klra2 |
T |
A |
6: 131,198,839 (GRCm39) |
D234V |
probably benign |
Het |
| Lct |
A |
T |
1: 128,228,215 (GRCm39) |
S1093T |
probably benign |
Het |
| Marchf9 |
A |
G |
10: 126,892,558 (GRCm39) |
L310P |
probably benign |
Het |
| Morc1 |
G |
T |
16: 48,407,487 (GRCm39) |
E668* |
probably null |
Het |
| Nbas |
A |
T |
12: 13,455,426 (GRCm39) |
L1213F |
probably damaging |
Het |
| Neto1 |
A |
G |
18: 86,516,873 (GRCm39) |
T397A |
possibly damaging |
Het |
| Oit3 |
A |
G |
10: 59,265,462 (GRCm39) |
C268R |
probably damaging |
Het |
| Or5p55 |
A |
G |
7: 107,566,669 (GRCm39) |
T22A |
probably benign |
Het |
| Pcx |
T |
C |
19: 4,654,523 (GRCm39) |
F312L |
probably benign |
Het |
| Pitx2 |
T |
C |
3: 129,008,432 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
G |
A |
15: 44,361,485 (GRCm39) |
|
probably null |
Het |
| Polr1a |
C |
A |
6: 71,906,427 (GRCm39) |
D414E |
possibly damaging |
Het |
| Pramel27 |
A |
G |
4: 143,579,384 (GRCm39) |
D323G |
probably damaging |
Het |
| Prkch |
T |
C |
12: 73,749,549 (GRCm39) |
Y381H |
probably damaging |
Het |
| Ptger3 |
T |
A |
3: 157,273,139 (GRCm39) |
V162E |
probably damaging |
Het |
| Ptgr2 |
T |
G |
12: 84,360,726 (GRCm39) |
M332R |
probably damaging |
Het |
| Ptprq |
G |
T |
10: 107,378,514 (GRCm39) |
S2009* |
probably null |
Het |
| Pwwp3a |
A |
G |
10: 80,068,113 (GRCm39) |
T86A |
probably benign |
Het |
| Rangrf |
C |
T |
11: 68,864,514 (GRCm39) |
G11R |
probably damaging |
Het |
| Rbl2 |
A |
T |
8: 91,823,467 (GRCm39) |
Q465L |
probably benign |
Het |
| Rhbdd1 |
A |
T |
1: 82,318,380 (GRCm39) |
M88L |
probably benign |
Het |
| Setd2 |
G |
A |
9: 110,361,785 (GRCm39) |
M13I |
probably benign |
Het |
| Sirpb1a |
T |
C |
3: 15,444,080 (GRCm39) |
Y384C |
probably damaging |
Het |
| Slc13a1 |
C |
T |
6: 24,097,611 (GRCm39) |
G439S |
probably damaging |
Het |
| Slc41a1 |
T |
A |
1: 131,768,887 (GRCm39) |
I239N |
probably damaging |
Het |
| Slit2 |
T |
A |
5: 48,461,509 (GRCm39) |
C1502S |
probably damaging |
Het |
| Slit3 |
G |
A |
11: 35,552,119 (GRCm39) |
E888K |
probably benign |
Het |
| Srrm3 |
G |
T |
5: 135,864,088 (GRCm39) |
R62L |
probably damaging |
Het |
| Synm |
A |
G |
7: 67,385,331 (GRCm39) |
V777A |
possibly damaging |
Het |
| Trmt13 |
T |
A |
3: 116,385,864 (GRCm39) |
N31I |
probably damaging |
Het |
| Trpm8 |
G |
A |
1: 88,289,720 (GRCm39) |
E893K |
probably damaging |
Het |
| Uqcc1 |
A |
G |
2: 155,693,343 (GRCm39) |
F197S |
probably damaging |
Het |
| Vmn1r67 |
T |
A |
7: 10,181,598 (GRCm39) |
N287K |
probably benign |
Het |
| Vmn2r44 |
A |
T |
7: 8,381,098 (GRCm39) |
M265K |
probably benign |
Het |
| Xdh |
C |
A |
17: 74,207,546 (GRCm39) |
C937F |
probably damaging |
Het |
| Zfp846 |
T |
A |
9: 20,505,167 (GRCm39) |
N342K |
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 |
|
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'- ACTGCCACTTCTGAGCACAG -3'
(R):5'- AGATGCACGCATTCAGACAAG -3'
Sequencing Primer
(F):5'- ACTTCTGAGCACAGTGCCC -3'
(R):5'- CAGCCGCATATTGAAGGTTC -3'
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| Posted On |
2018-06-06 |
Incidental Mutation