Incidental Mutation 'R7334:Wwc2'
| ID |
569374 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wwc2
|
| Ensembl Gene |
ENSMUSG00000031563 |
| Gene Name |
WW, C2 and coiled-coil domain containing 2 |
| Synonyms |
D8Ertd594e |
| MMRRC Submission |
045371-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R7334 (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 48322829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 424
(Y424C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057561]
|
| AlphaFold |
Q6NXJ0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000057561
AA Change: Y424C
|
| SMART Domains |
Protein: ENSMUSP00000056121
Gene: ENSMUSG00000031563
AA Change: Y424C
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (75/76) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
A |
3: 59,776,380 (GRCm39) |
C184S |
probably damaging |
Het |
| Acadm |
G |
T |
3: 153,644,698 (GRCm39) |
S9* |
probably null |
Het |
| Acot10 |
C |
T |
15: 20,665,629 (GRCm39) |
V371I |
possibly damaging |
Het |
| Adam8 |
T |
C |
7: 139,568,903 (GRCm39) |
E199G |
probably damaging |
Het |
| Aldh18a1 |
A |
T |
19: 40,539,696 (GRCm39) |
W762R |
probably damaging |
Het |
| Aldh1a1 |
T |
A |
19: 20,599,075 (GRCm39) |
V162E |
probably damaging |
Het |
| Alms1 |
A |
G |
6: 85,618,432 (GRCm39) |
D2357G |
probably damaging |
Het |
| Arfgef1 |
G |
T |
1: 10,254,685 (GRCm39) |
Q718K |
probably damaging |
Het |
| Arid5b |
A |
C |
10: 68,079,007 (GRCm39) |
V110G |
possibly damaging |
Het |
| Bpifb3 |
T |
A |
2: 153,761,654 (GRCm39) |
D34E |
probably damaging |
Het |
| Cacfd1 |
C |
T |
2: 26,905,558 (GRCm39) |
A85V |
possibly damaging |
Het |
| Cep57l1 |
C |
A |
10: 41,597,596 (GRCm39) |
S345I |
probably benign |
Het |
| Cibar2 |
T |
C |
8: 120,901,589 (GRCm39) |
T39A |
probably damaging |
Het |
| Clca3b |
G |
A |
3: 144,542,417 (GRCm39) |
R462* |
probably null |
Het |
| Cyp26c1 |
G |
A |
19: 37,677,323 (GRCm39) |
V251I |
probably benign |
Het |
| Dip2a |
A |
G |
10: 76,110,080 (GRCm39) |
S1179P |
possibly damaging |
Het |
| Dnal1 |
T |
C |
12: 84,173,780 (GRCm39) |
L27P |
probably damaging |
Het |
| Dock7 |
A |
G |
4: 98,864,180 (GRCm39) |
V1288A |
unknown |
Het |
| Elmod1 |
A |
T |
9: 53,841,508 (GRCm39) |
|
probably null |
Het |
| Epb41l5 |
T |
G |
1: 119,551,679 (GRCm39) |
K102T |
probably damaging |
Het |
| Fermt3 |
T |
C |
19: 6,980,406 (GRCm39) |
I358V |
probably benign |
Het |
| Frmd3 |
A |
G |
4: 74,079,955 (GRCm39) |
I316V |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,204,839 (GRCm39) |
|
probably null |
Het |
| Gm4131 |
T |
A |
14: 62,702,356 (GRCm39) |
H204L |
possibly damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,325,806 (GRCm39) |
G4278R |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,343,147 (GRCm39) |
S4558G |
possibly damaging |
Het |
| Igkv1-132 |
A |
G |
6: 67,737,108 (GRCm39) |
T25A |
probably benign |
Het |
| Kcp |
T |
C |
6: 29,485,511 (GRCm39) |
E1161G |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,293,235 (GRCm39) |
I5371K |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 16,011,529 (GRCm39) |
C1670S |
probably damaging |
Het |
| Mfsd13a |
T |
A |
19: 46,356,809 (GRCm39) |
V270E |
probably damaging |
Het |
| Mroh1 |
A |
G |
15: 76,311,838 (GRCm39) |
I524V |
probably benign |
Het |
| Mta1 |
T |
C |
12: 113,090,418 (GRCm39) |
S175P |
possibly damaging |
Het |
| Myo7a |
C |
T |
7: 97,728,573 (GRCm39) |
R800H |
probably benign |
Het |
| Ncald |
T |
A |
15: 37,397,524 (GRCm39) |
Y52F |
probably damaging |
Het |
| Nherf1 |
C |
T |
11: 115,054,593 (GRCm39) |
A81V |
possibly damaging |
Het |
| Nomo1 |
T |
C |
7: 45,732,692 (GRCm39) |
S1152P |
probably damaging |
Het |
| Nr3c1 |
A |
G |
18: 39,620,090 (GRCm39) |
F66L |
probably benign |
Het |
| Nrf1 |
T |
C |
6: 30,118,970 (GRCm39) |
L363S |
probably benign |
Het |
| Or4n4 |
C |
A |
14: 50,519,036 (GRCm39) |
V225F |
probably benign |
Het |
| Or8b12b |
A |
T |
9: 37,684,293 (GRCm39) |
I113F |
probably damaging |
Het |
| Osbpl3 |
A |
G |
6: 50,321,886 (GRCm39) |
M300T |
possibly damaging |
Het |
| Parpbp |
T |
A |
10: 87,947,617 (GRCm39) |
N339I |
probably damaging |
Het |
| Pdlim5 |
A |
T |
3: 141,950,678 (GRCm39) |
H578Q |
probably damaging |
Het |
| Pear1 |
T |
C |
3: 87,657,532 (GRCm39) |
N1009S |
probably damaging |
Het |
| Pnpla8 |
A |
G |
12: 44,358,286 (GRCm39) |
I745M |
probably damaging |
Het |
| Pom121l12 |
C |
A |
11: 14,549,681 (GRCm39) |
T129K |
probably damaging |
Het |
| Ppp1r14a |
T |
C |
7: 28,992,687 (GRCm39) |
S130P |
probably damaging |
Het |
| Prss12 |
A |
C |
3: 123,280,780 (GRCm39) |
L488F |
probably benign |
Het |
| Psd3 |
C |
T |
8: 68,361,357 (GRCm39) |
V559I |
possibly damaging |
Het |
| Rrh |
T |
C |
3: 129,602,631 (GRCm39) |
T364A |
probably benign |
Het |
| Shcbp1 |
A |
T |
8: 4,791,876 (GRCm39) |
M479K |
probably damaging |
Het |
| Shcbp1 |
A |
C |
8: 4,804,310 (GRCm39) |
F200C |
probably damaging |
Het |
| Slx1b |
G |
T |
7: 126,291,699 (GRCm39) |
R122S |
probably damaging |
Het |
| Spata31f1e |
G |
A |
4: 42,793,856 (GRCm39) |
T92I |
possibly damaging |
Het |
| Spidr |
A |
G |
16: 15,932,689 (GRCm39) |
|
probably null |
Het |
| St18 |
G |
A |
1: 6,872,783 (GRCm39) |
D173N |
probably benign |
Het |
| Stambpl1 |
T |
C |
19: 34,204,048 (GRCm39) |
I46T |
probably damaging |
Het |
| Syne1 |
C |
T |
10: 5,007,886 (GRCm39) |
D113N |
probably damaging |
Het |
| Tg |
G |
A |
15: 66,597,121 (GRCm39) |
V1741I |
probably benign |
Het |
| Thsd7b |
T |
A |
1: 130,123,012 (GRCm39) |
W1544R |
probably benign |
Het |
| Tiam2 |
G |
A |
17: 3,553,283 (GRCm39) |
R1120H |
possibly damaging |
Het |
| Tinag |
A |
T |
9: 76,908,931 (GRCm39) |
C337S |
probably damaging |
Het |
| Tm4sf1 |
G |
C |
3: 57,200,510 (GRCm39) |
A64G |
probably damaging |
Het |
| Tmprss6 |
A |
G |
15: 78,328,017 (GRCm39) |
Y572H |
unknown |
Het |
| Tnfrsf11a |
G |
A |
1: 105,754,854 (GRCm39) |
A309T |
possibly damaging |
Het |
| Txndc11 |
A |
G |
16: 10,946,425 (GRCm39) |
Y129H |
probably damaging |
Het |
| Ube3b |
T |
C |
5: 114,553,742 (GRCm39) |
F974S |
possibly damaging |
Het |
| Utrn |
C |
A |
10: 12,603,753 (GRCm39) |
|
probably null |
Het |
| Vmn1r58 |
T |
A |
7: 5,414,066 (GRCm39) |
M55L |
probably benign |
Het |
| Vnn1 |
T |
A |
10: 23,776,658 (GRCm39) |
S336R |
probably benign |
Het |
| Zfp507 |
T |
C |
7: 35,475,505 (GRCm39) |
I903V |
probably damaging |
Het |
| Zfp551 |
C |
T |
7: 12,150,681 (GRCm39) |
G243R |
probably damaging |
Het |
| Zfp60 |
T |
A |
7: 27,448,444 (GRCm39) |
C371S |
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 |
|
|
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 |
|
|
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'- CTTTCTGTGGGGTATTTCAAAATGC -3'
(R):5'- ACACGTGATTCTGGGATAATCAG -3'
Sequencing Primer
(F):5'- GGATTTTGGAGGGGAAAATGTACTTC -3'
(R):5'- CGTGATTCTGGGATAATCAGGTTTTC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation