Incidental Mutation 'R7016:Wwc2'
| ID |
545311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wwc2
|
| Ensembl Gene |
ENSMUSG00000031563 |
| Gene Name |
WW, C2 and coiled-coil domain containing 2 |
| Synonyms |
D8Ertd594e |
| MMRRC Submission |
045117-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R7016 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
48279117-48443579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48300583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 960
(E960G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057561]
|
| AlphaFold |
Q6NXJ0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000057561
AA Change: E960G
|
| SMART Domains |
Protein: ENSMUSP00000056121
Gene: ENSMUSG00000031563
AA Change: E960G
| 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: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
98% (63/64) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
A |
5: 8,986,843 (GRCm39) |
V754D |
probably benign |
Het |
| Actn1 |
T |
A |
12: 80,219,742 (GRCm39) |
M710L |
possibly damaging |
Het |
| Adam1a |
A |
G |
5: 121,659,101 (GRCm39) |
F64S |
probably benign |
Het |
| Aip |
G |
T |
19: 4,171,402 (GRCm39) |
D11E |
probably benign |
Het |
| Ak7 |
T |
A |
12: 105,747,938 (GRCm39) |
Y714* |
probably null |
Het |
| Amhr2 |
A |
G |
15: 102,362,799 (GRCm39) |
E522G |
possibly damaging |
Het |
| Amotl1 |
A |
G |
9: 14,504,995 (GRCm39) |
L108P |
probably damaging |
Het |
| Arhgef17 |
A |
G |
7: 100,528,184 (GRCm39) |
S677P |
probably benign |
Het |
| Asph |
T |
C |
4: 9,630,604 (GRCm39) |
|
probably null |
Het |
| Atp11b |
T |
C |
3: 35,895,185 (GRCm39) |
S908P |
probably benign |
Het |
| Atp13a3 |
C |
A |
16: 30,157,308 (GRCm39) |
V903L |
possibly damaging |
Het |
| Bcam |
G |
A |
7: 19,492,368 (GRCm39) |
R576* |
probably null |
Het |
| Btbd2 |
A |
G |
10: 80,484,449 (GRCm39) |
S141P |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,652,860 (GRCm39) |
N67S |
possibly damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,784,248 (GRCm39) |
T872A |
possibly damaging |
Het |
| Ccdc24 |
T |
A |
4: 117,728,313 (GRCm39) |
I144F |
probably null |
Het |
| Cep44 |
A |
T |
8: 56,997,234 (GRCm39) |
F101L |
possibly damaging |
Het |
| Cfap410 |
T |
A |
10: 77,818,790 (GRCm39) |
C154S |
probably benign |
Het |
| Cimap1d |
T |
C |
10: 79,475,790 (GRCm39) |
Y258C |
probably damaging |
Het |
| Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
| Dnajc21 |
G |
T |
15: 10,461,493 (GRCm39) |
Y152* |
probably null |
Het |
| Edem2 |
A |
G |
2: 155,557,992 (GRCm39) |
F214L |
possibly damaging |
Het |
| Fam118b |
G |
A |
9: 35,135,014 (GRCm39) |
R198W |
probably damaging |
Het |
| Fgb |
A |
G |
3: 82,953,371 (GRCm39) |
V133A |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,820,979 (GRCm39) |
T5571A |
probably benign |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
| Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
| Hnf4a |
T |
A |
2: 163,406,193 (GRCm39) |
Y277N |
probably damaging |
Het |
| Htatip2 |
A |
G |
7: 49,420,583 (GRCm39) |
D143G |
possibly damaging |
Het |
| Itgae |
A |
G |
11: 73,010,342 (GRCm39) |
N611D |
probably damaging |
Het |
| Ksr1 |
A |
T |
11: 78,918,362 (GRCm39) |
N515K |
probably damaging |
Het |
| Lrp1 |
C |
A |
10: 127,395,836 (GRCm39) |
|
probably null |
Het |
| Map3k20 |
T |
A |
2: 72,208,979 (GRCm39) |
V195D |
probably damaging |
Het |
| Meox2 |
A |
G |
12: 37,159,223 (GRCm39) |
S132G |
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Nell2 |
T |
A |
15: 95,127,032 (GRCm39) |
N781I |
possibly damaging |
Het |
| Or12d16-ps1 |
G |
A |
17: 37,706,094 (GRCm39) |
G221D |
possibly damaging |
Het |
| Or13a22 |
A |
G |
7: 140,073,153 (GRCm39) |
T201A |
probably benign |
Het |
| Or51m1 |
A |
G |
7: 103,578,737 (GRCm39) |
I236V |
probably benign |
Het |
| Or5e1 |
A |
G |
7: 108,354,918 (GRCm39) |
N285S |
probably damaging |
Het |
| Otoa |
A |
T |
7: 120,746,989 (GRCm39) |
Q918L |
probably damaging |
Het |
| Palld |
T |
G |
8: 61,969,032 (GRCm39) |
K1022T |
probably damaging |
Het |
| Parp8 |
A |
T |
13: 117,031,627 (GRCm39) |
S362T |
probably damaging |
Het |
| Phrf1 |
A |
G |
7: 140,817,476 (GRCm39) |
E95G |
probably damaging |
Het |
| Pls1 |
A |
T |
9: 95,668,994 (GRCm39) |
F76I |
probably damaging |
Het |
| Pnp |
T |
A |
14: 51,187,706 (GRCm39) |
|
probably null |
Het |
| Ptdss1 |
A |
C |
13: 67,120,685 (GRCm39) |
M294L |
probably benign |
Het |
| Rictor |
T |
A |
15: 6,804,361 (GRCm39) |
|
probably null |
Het |
| Rilp |
A |
G |
11: 75,401,745 (GRCm39) |
E175G |
probably damaging |
Het |
| Serpina16 |
T |
A |
12: 103,641,630 (GRCm39) |
T32S |
probably benign |
Het |
| Sim1 |
C |
T |
10: 50,860,346 (GRCm39) |
S736L |
probably benign |
Het |
| Smarcc2 |
T |
G |
10: 128,321,198 (GRCm39) |
|
probably null |
Het |
| Smtn |
A |
G |
11: 3,480,368 (GRCm39) |
|
probably null |
Het |
| Sspo |
T |
A |
6: 48,426,098 (GRCm39) |
W98R |
probably damaging |
Het |
| St8sia3 |
A |
T |
18: 64,402,654 (GRCm39) |
I98F |
probably benign |
Het |
| Taf10 |
A |
T |
7: 105,393,205 (GRCm39) |
|
probably null |
Het |
| Tasor2 |
A |
T |
13: 3,626,857 (GRCm39) |
V1031E |
possibly damaging |
Het |
| Tbc1d4 |
T |
A |
14: 101,724,877 (GRCm39) |
N580I |
probably damaging |
Het |
| Trim12c |
A |
T |
7: 103,997,413 (GRCm39) |
C48S |
|
Het |
| Tsc22d1 |
C |
A |
14: 76,654,982 (GRCm39) |
T405K |
probably damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,443,977 (GRCm39) |
D2G |
possibly damaging |
Het |
| Yme1l1 |
T |
A |
2: 23,076,367 (GRCm39) |
|
probably null |
Het |
| Zbtb2 |
G |
C |
10: 4,318,646 (GRCm39) |
P460R |
probably damaging |
Het |
| Zfp62 |
T |
G |
11: 49,106,764 (GRCm39) |
I285S |
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 |
|
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 |
|
|
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'- TCTACTCAGTGAGCTCTGCAG -3'
(R):5'- GTAGAAAGCCACTTCCCCTCTC -3'
Sequencing Primer
(F):5'- GGCACAGTCTCTGCTCTCAG -3'
(R):5'- CTACTTTCTACAGCATGGTTCTCTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation