Incidental Mutation 'R6768:Wwc2'
| ID |
532045 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wwc2
|
| Ensembl Gene |
ENSMUSG00000031563 |
| Gene Name |
WW, C2 and coiled-coil domain containing 2 |
| Synonyms |
D8Ertd594e |
| MMRRC Submission |
044884-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R6768 (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: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 97.2%
|
| Validation Efficiency |
96% (45/47) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
G |
A |
12: 113,453,863 (GRCm39) |
V227I |
probably benign |
Het |
| Agtrap |
A |
G |
4: 148,166,067 (GRCm39) |
V106A |
probably benign |
Het |
| Aldh3a2 |
A |
C |
11: 61,144,536 (GRCm39) |
S341A |
probably benign |
Het |
| Bmper |
T |
A |
9: 23,292,749 (GRCm39) |
C353S |
probably damaging |
Het |
| Casq1 |
C |
T |
1: 172,047,245 (GRCm39) |
D5N |
probably benign |
Het |
| Ccin |
G |
A |
4: 43,984,574 (GRCm39) |
R327H |
probably benign |
Het |
| Chuk |
A |
G |
19: 44,085,390 (GRCm39) |
V252A |
probably damaging |
Het |
| Colec11 |
T |
C |
12: 28,645,100 (GRCm39) |
|
probably null |
Het |
| Cpeb3 |
G |
A |
19: 37,002,432 (GRCm39) |
T643I |
possibly damaging |
Het |
| Cstpp1 |
A |
T |
2: 91,252,303 (GRCm39) |
H19Q |
probably damaging |
Het |
| Ctcfl |
A |
G |
2: 172,959,084 (GRCm39) |
V214A |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,220,793 (GRCm39) |
E2199G |
probably damaging |
Het |
| Eno2 |
T |
C |
6: 124,744,711 (GRCm39) |
E45G |
probably damaging |
Het |
| Foxa2 |
T |
C |
2: 147,885,747 (GRCm39) |
H181R |
probably damaging |
Het |
| Fpgs |
A |
G |
2: 32,576,635 (GRCm39) |
S331P |
probably benign |
Het |
| Gm47189 |
A |
G |
14: 41,492,035 (GRCm39) |
S81P |
probably benign |
Het |
| Igsf8 |
C |
A |
1: 172,145,099 (GRCm39) |
P142Q |
probably damaging |
Het |
| Islr |
G |
T |
9: 58,064,893 (GRCm39) |
Q205K |
possibly damaging |
Het |
| Josd1 |
A |
G |
15: 79,561,323 (GRCm39) |
W162R |
probably benign |
Het |
| Lrrc37a |
G |
A |
11: 103,390,949 (GRCm39) |
T1492I |
probably benign |
Het |
| Meox1 |
A |
G |
11: 101,770,161 (GRCm39) |
F189L |
probably damaging |
Het |
| Mtf1 |
G |
A |
4: 124,731,578 (GRCm39) |
D385N |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,314,832 (GRCm39) |
C315* |
probably null |
Het |
| Ncaph2 |
T |
A |
15: 89,248,202 (GRCm39) |
Y166* |
probably null |
Het |
| Nr1i3 |
G |
A |
1: 171,044,966 (GRCm39) |
V270M |
probably damaging |
Het |
| Or11h4b |
A |
G |
14: 50,919,049 (GRCm39) |
L14S |
probably damaging |
Het |
| Or13c7 |
T |
C |
4: 43,854,351 (GRCm39) |
I14T |
probably benign |
Het |
| Panx3 |
T |
C |
9: 37,575,322 (GRCm39) |
K180R |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
| Reln |
A |
C |
5: 22,183,905 (GRCm39) |
V1698G |
probably damaging |
Het |
| Rnf213 |
G |
T |
11: 119,333,062 (GRCm39) |
R2757L |
probably damaging |
Het |
| Scgb2b26 |
G |
T |
7: 33,644,379 (GRCm39) |
T4K |
probably damaging |
Het |
| Sdhb |
A |
G |
4: 140,706,364 (GRCm39) |
E267G |
probably damaging |
Het |
| Sorbs1 |
A |
T |
19: 40,315,991 (GRCm39) |
N383K |
probably damaging |
Het |
| Stk11ip |
T |
A |
1: 75,509,279 (GRCm39) |
C766S |
probably benign |
Het |
| Taf6l |
A |
C |
19: 8,751,913 (GRCm39) |
S592A |
probably damaging |
Het |
| Tmem145 |
G |
A |
7: 25,008,061 (GRCm39) |
G235D |
probably damaging |
Het |
| Tuba3b |
T |
A |
6: 145,564,455 (GRCm39) |
|
probably null |
Het |
| Ubl7 |
A |
T |
9: 57,820,045 (GRCm39) |
E32D |
probably benign |
Het |
| Vmn1r168 |
A |
T |
7: 23,240,460 (GRCm39) |
T106S |
probably damaging |
Het |
| Vmn2r59 |
C |
A |
7: 41,661,392 (GRCm39) |
V808F |
probably benign |
Het |
| Vmn2r61 |
C |
T |
7: 41,949,748 (GRCm39) |
P723S |
probably damaging |
Het |
| Zfp11 |
G |
T |
5: 129,735,415 (GRCm39) |
D15E |
probably benign |
Het |
| Zfp428 |
G |
A |
7: 24,214,908 (GRCm39) |
G162R |
probably damaging |
Het |
| Zfp629 |
G |
A |
7: 127,209,997 (GRCm39) |
T604I |
probably benign |
Het |
| Zfpm1 |
C |
A |
8: 123,061,195 (GRCm39) |
D253E |
probably damaging |
Het |
| Zhx1 |
G |
T |
15: 57,917,499 (GRCm39) |
T249K |
probably benign |
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 |
|
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'- GCTCAAAATCTAACCACAGGAGTG -3'
(R):5'- TCTTAGGCGTTTCCAGCAGG -3'
Sequencing Primer
(F):5'- ACAGGAGTGTGAGTGACTGTCAC -3'
(R):5'- GTGCTTTAGAGGACACAAGGATCC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation