Incidental Mutation 'R6993:Wwc2'
ID |
543974 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wwc2
|
Ensembl Gene |
ENSMUSG00000031563 |
Gene Name |
WW, C2 and coiled-coil domain containing 2 |
Synonyms |
D8Ertd594e |
MMRRC Submission |
045099-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R6993 (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 48300500 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 988
(F988I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056121
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057561]
|
AlphaFold |
Q6NXJ0 |
Predicted Effect |
unknown
Transcript: ENSMUST00000057561
AA Change: F988I
|
SMART Domains |
Protein: ENSMUSP00000056121 Gene: ENSMUSG00000031563 AA Change: F988I
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% (66/67) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700011L22Rik |
T |
C |
8: 79,975,053 (GRCm39) |
E10G |
possibly damaging |
Het |
Akap9 |
A |
G |
5: 4,115,866 (GRCm39) |
I3429V |
possibly damaging |
Het |
Braf |
T |
A |
6: 39,620,097 (GRCm39) |
I441F |
probably damaging |
Het |
C5ar1 |
A |
T |
7: 15,982,837 (GRCm39) |
V61E |
probably damaging |
Het |
Camk2a |
C |
A |
18: 61,076,247 (GRCm39) |
|
probably benign |
Het |
Cd163 |
A |
G |
6: 124,294,673 (GRCm39) |
Y579C |
probably damaging |
Het |
Celf1 |
T |
C |
2: 90,840,821 (GRCm39) |
Y363H |
probably damaging |
Het |
Cntn3 |
T |
C |
6: 102,255,365 (GRCm39) |
T178A |
probably damaging |
Het |
Cryab |
C |
T |
9: 50,664,748 (GRCm39) |
P58S |
probably benign |
Het |
Ctsf |
G |
T |
19: 4,908,511 (GRCm39) |
R290L |
probably benign |
Het |
Ctsw |
T |
A |
19: 5,515,865 (GRCm39) |
I258F |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,234,299 (GRCm39) |
|
probably null |
Het |
Drg1 |
TCATCTTCCA |
TCA |
11: 3,200,294 (GRCm39) |
|
probably null |
Het |
Etfb |
A |
G |
7: 43,105,978 (GRCm39) |
T172A |
possibly damaging |
Het |
Etfdh |
A |
G |
3: 79,519,338 (GRCm39) |
Y272H |
probably benign |
Het |
Ewsr1 |
C |
T |
11: 5,021,573 (GRCm39) |
R454Q |
probably benign |
Het |
F2rl2 |
T |
A |
13: 95,837,642 (GRCm39) |
I229N |
probably damaging |
Het |
Fam162a |
A |
T |
16: 35,870,215 (GRCm39) |
I88N |
probably damaging |
Het |
Fastkd5 |
A |
G |
2: 130,458,459 (GRCm39) |
S44P |
probably benign |
Het |
Fat3 |
T |
G |
9: 15,830,517 (GRCm39) |
S4326R |
probably damaging |
Het |
Fbf1 |
T |
C |
11: 116,043,610 (GRCm39) |
K400E |
probably benign |
Het |
Fndc7 |
A |
G |
3: 108,783,907 (GRCm39) |
V234A |
probably benign |
Het |
Gfi1 |
T |
A |
5: 107,865,634 (GRCm39) |
H481L |
probably damaging |
Het |
Gm5591 |
T |
A |
7: 38,218,647 (GRCm39) |
H742L |
probably benign |
Het |
Golm1 |
ACTTCTTCT |
ACTTCT |
13: 59,797,390 (GRCm39) |
|
probably benign |
Het |
H2-DMb1 |
A |
C |
17: 34,376,324 (GRCm39) |
T148P |
possibly damaging |
Het |
H2-T3 |
A |
G |
17: 36,497,962 (GRCm39) |
L317P |
probably damaging |
Het |
Hes3 |
T |
C |
4: 152,371,380 (GRCm39) |
T190A |
probably benign |
Het |
Hivep1 |
C |
T |
13: 42,312,190 (GRCm39) |
L1477F |
possibly damaging |
Het |
Insr |
C |
T |
8: 3,308,752 (GRCm39) |
G95S |
probably damaging |
Het |
Irf9 |
A |
G |
14: 55,846,414 (GRCm39) |
I394V |
probably benign |
Het |
Kat2b |
T |
C |
17: 53,945,550 (GRCm39) |
L323P |
probably damaging |
Het |
Kdr |
T |
C |
5: 76,133,071 (GRCm39) |
D69G |
probably benign |
Het |
Krt1c |
C |
T |
15: 101,724,395 (GRCm39) |
E290K |
probably damaging |
Het |
Krtap4-6 |
G |
T |
11: 99,556,545 (GRCm39) |
R61S |
unknown |
Het |
Ldc1 |
A |
G |
4: 130,112,106 (GRCm39) |
L192P |
probably damaging |
Het |
Lrrc27 |
A |
T |
7: 138,822,540 (GRCm39) |
K477M |
probably damaging |
Het |
Lvrn |
T |
C |
18: 47,015,365 (GRCm39) |
V579A |
probably benign |
Het |
Malrd1 |
A |
T |
2: 16,155,602 (GRCm39) |
I2004L |
unknown |
Het |
Mast4 |
A |
T |
13: 102,872,482 (GRCm39) |
N2103K |
probably benign |
Het |
Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
Myo18a |
T |
A |
11: 77,749,900 (GRCm39) |
|
probably benign |
Het |
Or10d5 |
T |
A |
9: 39,861,933 (GRCm39) |
M45L |
probably benign |
Het |
Or52ab2 |
G |
T |
7: 102,969,998 (GRCm39) |
|
probably benign |
Het |
Pcdhga10 |
A |
G |
18: 37,882,309 (GRCm39) |
Y690C |
probably damaging |
Het |
Pdcd2 |
A |
G |
17: 15,747,343 (GRCm39) |
Y65H |
probably damaging |
Het |
Ppp1r12a |
A |
G |
10: 108,076,698 (GRCm39) |
E309G |
probably benign |
Het |
Psmb8 |
A |
G |
17: 34,418,617 (GRCm39) |
D123G |
probably damaging |
Het |
Ptcd3 |
A |
T |
6: 71,862,299 (GRCm39) |
W513R |
probably damaging |
Het |
Ptx4 |
G |
A |
17: 25,343,898 (GRCm39) |
V383I |
possibly damaging |
Het |
Ric1 |
T |
C |
19: 29,564,013 (GRCm39) |
L589S |
probably damaging |
Het |
Rmnd5b |
A |
G |
11: 51,515,427 (GRCm39) |
|
probably benign |
Het |
Sec16a |
A |
T |
2: 26,313,586 (GRCm39) |
S1925T |
probably damaging |
Het |
Slc16a11 |
T |
A |
11: 70,106,842 (GRCm39) |
M360K |
possibly damaging |
Het |
Slc19a2 |
T |
A |
1: 164,088,391 (GRCm39) |
F79I |
probably benign |
Het |
Slc2a6 |
G |
T |
2: 26,917,255 (GRCm39) |
S45R |
probably damaging |
Het |
Slco1a7 |
G |
A |
6: 141,711,468 (GRCm39) |
T81I |
possibly damaging |
Het |
Sppl3 |
T |
A |
5: 115,220,349 (GRCm39) |
M87K |
probably damaging |
Het |
Tbcel |
A |
T |
9: 42,327,413 (GRCm39) |
L330* |
probably null |
Het |
Tbx5 |
A |
T |
5: 120,009,454 (GRCm39) |
Y321F |
possibly damaging |
Het |
Tenm3 |
C |
T |
8: 48,689,474 (GRCm39) |
D2038N |
probably damaging |
Het |
Tesk1 |
A |
G |
4: 43,447,006 (GRCm39) |
T465A |
probably benign |
Het |
Unc45a |
A |
T |
7: 79,975,403 (GRCm39) |
Y934N |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,588,952 (GRCm39) |
Q1039L |
possibly damaging |
Het |
Vmn2r112 |
T |
C |
17: 22,822,195 (GRCm39) |
L291P |
probably benign |
Het |
Zfp947 |
G |
A |
17: 22,364,961 (GRCm39) |
P238S |
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 |
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 |
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'- AAGACCCTGAGTGTTTGGGG -3'
(R):5'- ATGCTCACTCCCTAGAAGAATGG -3'
Sequencing Primer
(F):5'- GGTATGACACTCTACTCAGTGAGC -3'
(R):5'- TCCCTAGAAGAATGGCACCCATATG -3'
|
Posted On |
2019-05-13 |