Incidental Mutation 'R7904:Wwc2'
| ID |
610164 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wwc2
|
| Ensembl Gene |
ENSMUSG00000031563 |
| Gene Name |
WW, C2 and coiled-coil domain containing 2 |
| Synonyms |
D8Ertd594e |
| MMRRC Submission |
045956-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R7904 (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 T
at 48309270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 837
(N837K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057561]
|
| AlphaFold |
Q6NXJ0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000057561
AA Change: N837K
|
| SMART Domains |
Protein: ENSMUSP00000056121
Gene: ENSMUSG00000031563
AA Change: N837K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
97% (72/74) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam8 |
G |
A |
7: 139,567,591 (GRCm39) |
T384I |
probably benign |
Het |
| Astn1 |
T |
C |
1: 158,424,886 (GRCm39) |
F691L |
probably benign |
Het |
| Azgp1 |
A |
G |
5: 137,985,869 (GRCm39) |
E164G |
probably damaging |
Het |
| Bdp1 |
A |
G |
13: 100,177,944 (GRCm39) |
V1975A |
probably benign |
Het |
| Cactin |
T |
C |
10: 81,161,699 (GRCm39) |
Y744H |
possibly damaging |
Het |
| Clstn1 |
T |
A |
4: 149,698,594 (GRCm39) |
I60N |
probably benign |
Het |
| Col16a1 |
T |
A |
4: 129,948,001 (GRCm39) |
C240* |
probably null |
Het |
| Col6a5 |
T |
C |
9: 105,805,720 (GRCm39) |
D1062G |
unknown |
Het |
| Csmd2 |
T |
C |
4: 128,313,346 (GRCm39) |
L1341P |
|
Het |
| Cyp51 |
A |
T |
5: 4,150,173 (GRCm39) |
F183L |
probably damaging |
Het |
| Dbnl |
T |
A |
11: 5,741,779 (GRCm39) |
|
probably null |
Het |
| Ddx60 |
G |
A |
8: 62,430,924 (GRCm39) |
V820I |
possibly damaging |
Het |
| Dnaaf9 |
A |
T |
2: 130,633,923 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
T |
A |
12: 117,867,003 (GRCm39) |
D4046V |
possibly damaging |
Het |
| Dnah6 |
G |
A |
6: 73,112,450 (GRCm39) |
|
probably null |
Het |
| Dnttip1 |
A |
G |
2: 164,589,472 (GRCm39) |
Y89C |
probably benign |
Het |
| Efr3a |
T |
A |
15: 65,696,527 (GRCm39) |
V144E |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,659,050 (GRCm39) |
Q868R |
possibly damaging |
Het |
| Ercc5 |
G |
T |
1: 44,214,998 (GRCm39) |
|
probably null |
Het |
| Fam118a |
A |
G |
15: 84,929,834 (GRCm39) |
S21G |
probably damaging |
Het |
| Fam171b |
T |
C |
2: 83,683,849 (GRCm39) |
I122T |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 38,941,690 (GRCm39) |
S194R |
probably damaging |
Het |
| Fcho2 |
T |
A |
13: 98,932,871 (GRCm39) |
T44S |
possibly damaging |
Het |
| Gm21698 |
C |
A |
5: 26,189,256 (GRCm39) |
L232F |
probably benign |
Het |
| Gpr149 |
T |
A |
3: 62,502,356 (GRCm39) |
D500V |
probably benign |
Het |
| Gpx8 |
T |
A |
13: 113,182,035 (GRCm39) |
T133S |
probably benign |
Het |
| Hdlbp |
A |
T |
1: 93,351,092 (GRCm39) |
I542N |
probably damaging |
Het |
| Hid1 |
G |
A |
11: 115,246,187 (GRCm39) |
S361F |
probably damaging |
Het |
| Igdcc4 |
C |
A |
9: 65,041,801 (GRCm39) |
A1076E |
probably benign |
Het |
| Il4ra |
A |
G |
7: 125,164,845 (GRCm39) |
K7E |
probably benign |
Het |
| Inka2 |
T |
C |
3: 105,623,730 (GRCm39) |
C35R |
probably damaging |
Het |
| Itga9 |
G |
T |
9: 118,706,294 (GRCm39) |
|
probably null |
Het |
| Kif5c |
T |
C |
2: 49,591,095 (GRCm39) |
S316P |
probably damaging |
Het |
| Kmt5c |
A |
T |
7: 4,749,158 (GRCm39) |
T264S |
probably damaging |
Het |
| Litafd |
A |
G |
16: 8,501,681 (GRCm39) |
H61R |
|
Het |
| Lrrc18 |
A |
G |
14: 32,731,052 (GRCm39) |
N197S |
probably benign |
Het |
| Mcoln1 |
C |
A |
8: 3,558,356 (GRCm39) |
D203E |
probably benign |
Het |
| Mitf |
T |
C |
6: 97,990,671 (GRCm39) |
V358A |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,294,816 (GRCm39) |
L3161Q |
possibly damaging |
Het |
| Mmp20 |
T |
A |
9: 7,644,076 (GRCm39) |
F255I |
possibly damaging |
Het |
| Muc16 |
T |
C |
9: 18,566,946 (GRCm39) |
T1858A |
unknown |
Het |
| Mug1 |
G |
A |
6: 121,828,424 (GRCm39) |
V279I |
probably benign |
Het |
| Or6c68 |
T |
C |
10: 129,157,665 (GRCm39) |
Y58H |
probably damaging |
Het |
| Otulin |
G |
T |
15: 27,630,580 (GRCm39) |
A39E |
probably benign |
Het |
| Pcdh17 |
A |
T |
14: 84,685,924 (GRCm39) |
D797V |
possibly damaging |
Het |
| Pdlim5 |
G |
A |
3: 142,018,154 (GRCm39) |
S147L |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Ppp2r1a |
T |
G |
17: 21,182,003 (GRCm39) |
|
probably null |
Het |
| Ranbp6 |
T |
C |
19: 29,789,813 (GRCm39) |
I180V |
probably benign |
Het |
| Rbm27 |
G |
T |
18: 42,465,921 (GRCm39) |
R869L |
probably damaging |
Het |
| Rtn4r |
A |
G |
16: 17,969,349 (GRCm39) |
D259G |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,611,369 (GRCm39) |
E2271G |
probably damaging |
Het |
| Sbk1 |
A |
G |
7: 125,891,208 (GRCm39) |
Y214C |
probably damaging |
Het |
| Scg3 |
C |
T |
9: 75,551,149 (GRCm39) |
E459K |
probably damaging |
Het |
| Scin |
T |
G |
12: 40,126,999 (GRCm39) |
E449D |
probably damaging |
Het |
| Sel1l3 |
T |
C |
5: 53,297,166 (GRCm39) |
K760R |
probably benign |
Het |
| Sh3pxd2a |
A |
G |
19: 47,308,753 (GRCm39) |
L145S |
possibly damaging |
Het |
| Sh3yl1 |
A |
G |
12: 30,991,995 (GRCm39) |
D188G |
probably benign |
Het |
| Slc38a1 |
A |
T |
15: 96,521,921 (GRCm39) |
L13Q |
possibly damaging |
Het |
| Smyd4 |
T |
C |
11: 75,240,613 (GRCm39) |
I36T |
possibly damaging |
Het |
| Spata31f1a |
A |
G |
4: 42,850,765 (GRCm39) |
S464P |
possibly damaging |
Het |
| Stab2 |
A |
T |
10: 86,790,056 (GRCm39) |
L570* |
probably null |
Het |
| Tg |
G |
T |
15: 66,577,128 (GRCm39) |
A1484S |
probably benign |
Het |
| Tm7sf2 |
A |
T |
19: 6,118,942 (GRCm39) |
N677K |
probably damaging |
Het |
| Tmem235 |
T |
G |
11: 117,751,717 (GRCm39) |
L47R |
probably damaging |
Het |
| Tmem87a |
A |
G |
2: 120,210,198 (GRCm39) |
S252P |
probably damaging |
Het |
| Unc13b |
A |
G |
4: 43,217,075 (GRCm39) |
D458G |
probably benign |
Het |
| Wfdc1 |
A |
G |
8: 120,406,770 (GRCm39) |
|
probably null |
Het |
| Wnt16 |
A |
G |
6: 22,297,989 (GRCm39) |
Y285C |
probably damaging |
Het |
| Xdh |
A |
G |
17: 74,229,467 (GRCm39) |
F329L |
probably benign |
Het |
| Yaf2 |
G |
T |
15: 93,183,466 (GRCm39) |
H115N |
probably benign |
Het |
| Zbtb16 |
G |
T |
9: 48,744,272 (GRCm39) |
N13K |
probably damaging |
Het |
| Zfhx3 |
A |
T |
8: 109,677,695 (GRCm39) |
D2915V |
probably damaging |
Het |
| Zfp236 |
A |
T |
18: 82,627,507 (GRCm39) |
V1564E |
possibly damaging |
Het |
| Zfp407 |
G |
T |
18: 84,579,381 (GRCm39) |
H577Q |
not run |
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 |
|
R6767: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 |
|
|
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'- AAGCTGGACTGGTCTCTCCTAG -3'
(R):5'- TTCGCCTTTGTCTTACCAGAGAG -3'
Sequencing Primer
(F):5'- GACTGGTCTCTCCTAGGCTGC -3'
(R):5'- TTTGTCTTACCAGAGAGAACAAATAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation