Incidental Mutation 'R6767:Wwc2'
ID |
531987 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wwc2
|
Ensembl Gene |
ENSMUSG00000031563 |
Gene Name |
WW, C2 and coiled-coil domain containing 2 |
Synonyms |
D8Ertd594e |
MMRRC Submission |
044883-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R6767 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
48279117-48443579 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 48353826 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 103
(Y103H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056121
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057561]
|
AlphaFold |
Q6NXJ0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057561
AA Change: Y103H
PolyPhen 2
Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000056121 Gene: ENSMUSG00000031563 AA Change: Y103H
Domain | Start | End | E-Value | Type |
WW
|
11 |
43 |
3.92e-11 |
SMART |
WW
|
58 |
90 |
4.65e-4 |
SMART |
low complexity region
|
143 |
156 |
N/A |
INTRINSIC |
coiled coil region
|
162 |
194 |
N/A |
INTRINSIC |
coiled coil region
|
223 |
254 |
N/A |
INTRINSIC |
coiled coil region
|
302 |
333 |
N/A |
INTRINSIC |
low complexity region
|
341 |
358 |
N/A |
INTRINSIC |
coiled coil region
|
359 |
423 |
N/A |
INTRINSIC |
low complexity region
|
540 |
567 |
N/A |
INTRINSIC |
C2
|
713 |
818 |
5.29e0 |
SMART |
coiled coil region
|
857 |
884 |
N/A |
INTRINSIC |
coiled coil region
|
1067 |
1144 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.4070 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.9%
|
Validation Efficiency |
100% (67/67) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WW-and-C2-domain-containing family of proteins. Members of this family have two N-terminal WW domains that mediate binding to target proteins harboring L/PPxY motifs, an internal C2 domain for membrane association, and C-terminal alpha protein kinase C binding sites and class III PDZ domain-interaction motifs. Proteins of this family are able to form homo- and heterodimers and to modulate hippo pathway signaling. [provided by RefSeq, Sep 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
G |
A |
8: 44,079,951 (GRCm39) |
T91I |
probably damaging |
Het |
Ak7 |
A |
G |
12: 105,732,866 (GRCm39) |
N537D |
probably damaging |
Het |
Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
Atp8a2 |
A |
G |
14: 60,284,171 (GRCm39) |
F47S |
probably damaging |
Het |
Cadps |
T |
A |
14: 12,550,888 (GRCm38) |
T449S |
probably damaging |
Het |
Ccdc33 |
C |
G |
9: 57,940,527 (GRCm39) |
Q489H |
possibly damaging |
Het |
Cd163 |
T |
G |
6: 124,281,738 (GRCm39) |
S14A |
possibly damaging |
Het |
Cemip |
G |
A |
7: 83,647,832 (GRCm39) |
L83F |
probably damaging |
Het |
Chrd |
C |
T |
16: 20,557,376 (GRCm39) |
P665L |
probably benign |
Het |
Cib4 |
T |
A |
5: 30,691,589 (GRCm39) |
H44L |
probably benign |
Het |
Clic1 |
T |
A |
17: 35,272,029 (GRCm39) |
L99Q |
probably benign |
Het |
Cnst |
C |
T |
1: 179,437,519 (GRCm39) |
T361I |
possibly damaging |
Het |
Dnah6 |
C |
A |
6: 73,110,591 (GRCm39) |
V1613L |
probably benign |
Het |
Dnajb8 |
T |
C |
6: 88,199,634 (GRCm39) |
S57P |
probably damaging |
Het |
Dyrk3 |
T |
C |
1: 131,057,327 (GRCm39) |
H282R |
probably damaging |
Het |
Fasn |
T |
C |
11: 120,708,313 (GRCm39) |
I651V |
possibly damaging |
Het |
Gas6 |
A |
G |
8: 13,515,784 (GRCm39) |
S663P |
probably damaging |
Het |
Gbp8 |
T |
C |
5: 105,166,478 (GRCm39) |
M284V |
probably benign |
Het |
Gm12695 |
T |
C |
4: 96,650,933 (GRCm39) |
|
probably null |
Het |
Gm6034 |
T |
A |
17: 36,354,023 (GRCm39) |
M1K |
probably null |
Het |
Gm9376 |
A |
G |
14: 118,504,648 (GRCm39) |
T27A |
unknown |
Het |
Grid2 |
A |
G |
6: 63,907,999 (GRCm39) |
D213G |
probably benign |
Het |
Gsdma3 |
A |
T |
11: 98,528,710 (GRCm39) |
D388V |
possibly damaging |
Het |
H4c2 |
T |
A |
13: 23,941,005 (GRCm39) |
M1K |
probably null |
Het |
Hdac9 |
T |
A |
12: 34,337,528 (GRCm39) |
H716L |
probably damaging |
Het |
Hivep1 |
T |
C |
13: 42,308,203 (GRCm39) |
S148P |
probably damaging |
Het |
Kctd1 |
T |
C |
18: 15,195,232 (GRCm39) |
T464A |
possibly damaging |
Het |
Kera |
A |
G |
10: 97,445,034 (GRCm39) |
D131G |
possibly damaging |
Het |
Kif2c |
C |
T |
4: 117,035,385 (GRCm39) |
R21Q |
probably benign |
Het |
Luc7l3 |
G |
T |
11: 94,183,779 (GRCm39) |
D453E |
probably damaging |
Het |
Mrpl9 |
A |
G |
3: 94,357,528 (GRCm39) |
|
probably benign |
Het |
Mtss1 |
T |
C |
15: 58,825,430 (GRCm39) |
S257G |
probably benign |
Het |
N4bp2 |
T |
C |
5: 65,974,530 (GRCm39) |
F1467L |
probably damaging |
Het |
Naa25 |
T |
C |
5: 121,577,928 (GRCm39) |
V945A |
probably damaging |
Het |
Nrg1 |
T |
C |
8: 32,407,923 (GRCm39) |
I103M |
probably damaging |
Het |
Or2w1b |
C |
T |
13: 21,300,227 (GRCm39) |
R122C |
probably benign |
Het |
Orm3 |
C |
T |
4: 63,274,531 (GRCm39) |
T32I |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
Plch1 |
A |
T |
3: 63,662,765 (GRCm39) |
M246K |
probably damaging |
Het |
Pld4 |
A |
C |
12: 112,730,549 (GRCm39) |
D144A |
possibly damaging |
Het |
Prelp |
C |
A |
1: 133,840,448 (GRCm39) |
V345L |
probably benign |
Het |
Rnf121 |
A |
G |
7: 101,672,619 (GRCm39) |
F238L |
probably damaging |
Het |
Rnf40 |
A |
G |
7: 127,195,757 (GRCm39) |
K667R |
possibly damaging |
Het |
Scgb1b12 |
A |
T |
7: 32,033,920 (GRCm39) |
N60I |
probably damaging |
Het |
Serpina3n |
T |
G |
12: 104,375,321 (GRCm39) |
V131G |
probably benign |
Het |
Slc22a21 |
T |
C |
11: 53,870,328 (GRCm39) |
Y119C |
probably damaging |
Het |
Slc22a28 |
A |
G |
19: 8,094,409 (GRCm39) |
F204S |
probably damaging |
Het |
Smc6 |
T |
A |
12: 11,321,821 (GRCm39) |
D29E |
possibly damaging |
Het |
Smgc |
T |
A |
15: 91,725,601 (GRCm39) |
F40Y |
possibly damaging |
Het |
Sorcs3 |
G |
T |
19: 48,702,010 (GRCm39) |
L630F |
probably damaging |
Het |
Sphk1 |
A |
G |
11: 116,426,982 (GRCm39) |
K306E |
possibly damaging |
Het |
Spmip2 |
A |
T |
3: 79,337,330 (GRCm39) |
D46V |
probably benign |
Het |
Spsb1 |
C |
T |
4: 149,991,301 (GRCm39) |
G89D |
probably damaging |
Het |
Stat4 |
G |
T |
1: 52,115,742 (GRCm39) |
M227I |
probably benign |
Het |
Syngr4 |
A |
G |
7: 45,536,915 (GRCm39) |
V116A |
possibly damaging |
Het |
Tacc1 |
T |
C |
8: 25,730,816 (GRCm39) |
M1V |
probably null |
Het |
Tcf7l1 |
T |
G |
6: 72,608,275 (GRCm39) |
K355Q |
probably damaging |
Het |
Tmem192 |
T |
C |
8: 65,416,888 (GRCm39) |
S36P |
probably damaging |
Het |
Top3a |
G |
T |
11: 60,641,579 (GRCm39) |
N368K |
possibly damaging |
Het |
Tpk1 |
T |
A |
6: 43,323,727 (GRCm39) |
I241F |
possibly damaging |
Het |
Trappc10 |
A |
G |
10: 78,029,345 (GRCm39) |
I1064T |
possibly damaging |
Het |
Vmn1r18 |
T |
A |
6: 57,367,206 (GRCm39) |
K116M |
probably damaging |
Het |
Vmn2r40 |
A |
T |
7: 8,923,139 (GRCm39) |
H407Q |
unknown |
Het |
Vmn2r91 |
T |
A |
17: 18,327,807 (GRCm39) |
L467H |
probably damaging |
Het |
Wdr59 |
G |
T |
8: 112,202,733 (GRCm39) |
S603R |
probably damaging |
Het |
Zfp324 |
A |
C |
7: 12,704,527 (GRCm39) |
K74N |
probably null |
Het |
Zfyve16 |
A |
G |
13: 92,644,707 (GRCm39) |
L1165P |
probably damaging |
Het |
|
Other mutations in Wwc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00969:Wwc2
|
APN |
8 |
48,299,193 (GRCm39) |
missense |
unknown |
|
IGL01397:Wwc2
|
APN |
8 |
48,321,311 (GRCm39) |
missense |
unknown |
|
IGL01522:Wwc2
|
APN |
8 |
48,321,668 (GRCm39) |
missense |
unknown |
|
IGL01530:Wwc2
|
APN |
8 |
48,316,974 (GRCm39) |
missense |
unknown |
|
IGL01867:Wwc2
|
APN |
8 |
48,336,615 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01991:Wwc2
|
APN |
8 |
48,322,901 (GRCm39) |
nonsense |
probably null |
|
IGL02092:Wwc2
|
APN |
8 |
48,317,570 (GRCm39) |
missense |
unknown |
|
IGL02320:Wwc2
|
APN |
8 |
48,316,882 (GRCm39) |
splice site |
probably null |
|
IGL02503:Wwc2
|
APN |
8 |
48,302,418 (GRCm39) |
missense |
unknown |
|
H8562:Wwc2
|
UTSW |
8 |
48,373,701 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0244:Wwc2
|
UTSW |
8 |
48,353,756 (GRCm39) |
missense |
probably benign |
0.16 |
R0331:Wwc2
|
UTSW |
8 |
48,333,239 (GRCm39) |
missense |
probably benign |
0.15 |
R0349:Wwc2
|
UTSW |
8 |
48,321,701 (GRCm39) |
missense |
unknown |
|
R0542:Wwc2
|
UTSW |
8 |
48,321,414 (GRCm39) |
missense |
unknown |
|
R0645:Wwc2
|
UTSW |
8 |
48,353,674 (GRCm39) |
splice site |
probably benign |
|
R1081:Wwc2
|
UTSW |
8 |
48,281,799 (GRCm39) |
unclassified |
probably benign |
|
R1167:Wwc2
|
UTSW |
8 |
48,311,814 (GRCm39) |
nonsense |
probably null |
|
R1646:Wwc2
|
UTSW |
8 |
48,295,937 (GRCm39) |
missense |
unknown |
|
R1860:Wwc2
|
UTSW |
8 |
48,443,137 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2070:Wwc2
|
UTSW |
8 |
48,321,356 (GRCm39) |
missense |
unknown |
|
R2183:Wwc2
|
UTSW |
8 |
48,295,961 (GRCm39) |
missense |
unknown |
|
R3969:Wwc2
|
UTSW |
8 |
48,309,358 (GRCm39) |
missense |
unknown |
|
R4096:Wwc2
|
UTSW |
8 |
48,295,937 (GRCm39) |
missense |
unknown |
|
R4387:Wwc2
|
UTSW |
8 |
48,284,681 (GRCm39) |
missense |
unknown |
|
R4447:Wwc2
|
UTSW |
8 |
48,321,702 (GRCm39) |
missense |
unknown |
|
R4448:Wwc2
|
UTSW |
8 |
48,321,702 (GRCm39) |
missense |
unknown |
|
R4450:Wwc2
|
UTSW |
8 |
48,321,702 (GRCm39) |
missense |
unknown |
|
R4646:Wwc2
|
UTSW |
8 |
48,373,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R4869:Wwc2
|
UTSW |
8 |
48,373,713 (GRCm39) |
missense |
probably damaging |
0.99 |
R5159:Wwc2
|
UTSW |
8 |
48,353,796 (GRCm39) |
missense |
probably benign |
0.03 |
R5317:Wwc2
|
UTSW |
8 |
48,300,590 (GRCm39) |
missense |
unknown |
|
R5391:Wwc2
|
UTSW |
8 |
48,316,906 (GRCm39) |
missense |
unknown |
|
R5728:Wwc2
|
UTSW |
8 |
48,317,096 (GRCm39) |
missense |
unknown |
|
R5871:Wwc2
|
UTSW |
8 |
48,321,458 (GRCm39) |
missense |
unknown |
|
R5943:Wwc2
|
UTSW |
8 |
48,443,137 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6137:Wwc2
|
UTSW |
8 |
48,309,298 (GRCm39) |
missense |
unknown |
|
R6169:Wwc2
|
UTSW |
8 |
48,311,878 (GRCm39) |
missense |
unknown |
|
R6363:Wwc2
|
UTSW |
8 |
48,340,197 (GRCm39) |
splice site |
probably null |
|
R6421:Wwc2
|
UTSW |
8 |
48,353,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R6467:Wwc2
|
UTSW |
8 |
48,304,943 (GRCm39) |
missense |
unknown |
|
R6712:Wwc2
|
UTSW |
8 |
48,353,838 (GRCm39) |
missense |
probably benign |
0.42 |
R6765:Wwc2
|
UTSW |
8 |
48,353,826 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6766:Wwc2
|
UTSW |
8 |
48,353,826 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6768:Wwc2
|
UTSW |
8 |
48,353,826 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6782:Wwc2
|
UTSW |
8 |
48,353,826 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6993:Wwc2
|
UTSW |
8 |
48,300,500 (GRCm39) |
missense |
unknown |
|
R7016:Wwc2
|
UTSW |
8 |
48,300,583 (GRCm39) |
missense |
unknown |
|
R7079:Wwc2
|
UTSW |
8 |
48,300,580 (GRCm39) |
missense |
unknown |
|
R7219:Wwc2
|
UTSW |
8 |
48,311,919 (GRCm39) |
missense |
unknown |
|
R7258:Wwc2
|
UTSW |
8 |
48,296,034 (GRCm39) |
missense |
unknown |
|
R7334:Wwc2
|
UTSW |
8 |
48,322,829 (GRCm39) |
missense |
unknown |
|
R7375:Wwc2
|
UTSW |
8 |
48,316,955 (GRCm39) |
missense |
unknown |
|
R7451:Wwc2
|
UTSW |
8 |
48,317,610 (GRCm39) |
missense |
not run |
|
R7505:Wwc2
|
UTSW |
8 |
48,333,185 (GRCm39) |
missense |
probably damaging |
0.96 |
R7825:Wwc2
|
UTSW |
8 |
48,443,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R7854:Wwc2
|
UTSW |
8 |
48,321,512 (GRCm39) |
missense |
unknown |
|
R7904:Wwc2
|
UTSW |
8 |
48,309,270 (GRCm39) |
missense |
unknown |
|
R8811:Wwc2
|
UTSW |
8 |
48,336,579 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8985:Wwc2
|
UTSW |
8 |
48,331,919 (GRCm39) |
missense |
probably benign |
0.09 |
R9004:Wwc2
|
UTSW |
8 |
48,373,732 (GRCm39) |
missense |
probably damaging |
0.99 |
R9133:Wwc2
|
UTSW |
8 |
48,305,007 (GRCm39) |
missense |
unknown |
|
R9339:Wwc2
|
UTSW |
8 |
48,353,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R9598:Wwc2
|
UTSW |
8 |
48,328,360 (GRCm39) |
missense |
probably damaging |
0.98 |
R9633:Wwc2
|
UTSW |
8 |
48,304,959 (GRCm39) |
frame shift |
probably null |
|
R9634:Wwc2
|
UTSW |
8 |
48,304,959 (GRCm39) |
frame shift |
probably null |
|
R9691:Wwc2
|
UTSW |
8 |
48,281,799 (GRCm39) |
unclassified |
probably benign |
|
R9799:Wwc2
|
UTSW |
8 |
48,321,595 (GRCm39) |
missense |
unknown |
|
Z1176:Wwc2
|
UTSW |
8 |
48,321,584 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACAGGAGTGTGAGTGACTGTC -3'
(R):5'- TTAGACCAGTCACTTCTTAGGCG -3'
Sequencing Primer
(F):5'- GACTGTCACCTCTCCATCCCAG -3'
(R):5'- ACTTCTTAGGCGTTTCCAGCAGG -3'
|
Posted On |
2018-08-29 |