Incidental Mutation 'R3196:Wac'
ID |
267682 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wac
|
Ensembl Gene |
ENSMUSG00000024283 |
Gene Name |
WW domain containing adaptor with coiled-coil |
Synonyms |
Wwp4, A230035H12Rik, 1110067P07Rik |
MMRRC Submission |
040617-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3196 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
7868832-7929028 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 7917568 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 346
(V346E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128321
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074919]
[ENSMUST00000092112]
[ENSMUST00000166062]
[ENSMUST00000167020]
[ENSMUST00000171042]
[ENSMUST00000171486]
[ENSMUST00000172018]
[ENSMUST00000168446]
[ENSMUST00000170854]
[ENSMUST00000169478]
|
AlphaFold |
Q924H7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000074919
AA Change: V349E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000074454 Gene: ENSMUSG00000024283 AA Change: V349E
Domain | Start | End | E-Value | Type |
low complexity region
|
55 |
77 |
N/A |
INTRINSIC |
WW
|
85 |
117 |
2.12e-7 |
SMART |
low complexity region
|
207 |
222 |
N/A |
INTRINSIC |
low complexity region
|
287 |
307 |
N/A |
INTRINSIC |
low complexity region
|
320 |
331 |
N/A |
INTRINSIC |
low complexity region
|
466 |
481 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092112
AA Change: V291E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000089746 Gene: ENSMUSG00000024283 AA Change: V291E
Domain | Start | End | E-Value | Type |
low complexity region
|
100 |
122 |
N/A |
INTRINSIC |
WW
|
130 |
162 |
2.12e-7 |
SMART |
low complexity region
|
229 |
249 |
N/A |
INTRINSIC |
low complexity region
|
262 |
273 |
N/A |
INTRINSIC |
low complexity region
|
408 |
423 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165854
|
SMART Domains |
Protein: ENSMUSP00000126815 Gene: ENSMUSG00000024283
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
42 |
N/A |
INTRINSIC |
WW
|
50 |
82 |
2.12e-7 |
SMART |
low complexity region
|
265 |
280 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166062
|
SMART Domains |
Protein: ENSMUSP00000132532 Gene: ENSMUSG00000024283
Domain | Start | End | E-Value | Type |
low complexity region
|
55 |
77 |
N/A |
INTRINSIC |
WW
|
85 |
117 |
2.12e-7 |
SMART |
low complexity region
|
207 |
222 |
N/A |
INTRINSIC |
low complexity region
|
287 |
307 |
N/A |
INTRINSIC |
low complexity region
|
320 |
331 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167020
AA Change: V394E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132117 Gene: ENSMUSG00000024283 AA Change: V394E
Domain | Start | End | E-Value | Type |
low complexity region
|
100 |
122 |
N/A |
INTRINSIC |
WW
|
130 |
162 |
2.12e-7 |
SMART |
low complexity region
|
252 |
267 |
N/A |
INTRINSIC |
low complexity region
|
332 |
352 |
N/A |
INTRINSIC |
low complexity region
|
365 |
376 |
N/A |
INTRINSIC |
low complexity region
|
511 |
526 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167057
|
Predicted Effect |
unknown
Transcript: ENSMUST00000167542
AA Change: V152E
|
SMART Domains |
Protein: ENSMUSP00000125989 Gene: ENSMUSG00000024283 AA Change: V152E
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
low complexity region
|
95 |
115 |
N/A |
INTRINSIC |
low complexity region
|
128 |
139 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171042
AA Change: V242E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000133185 Gene: ENSMUSG00000024283 AA Change: V242E
Domain | Start | End | E-Value | Type |
low complexity region
|
55 |
77 |
N/A |
INTRINSIC |
WW
|
85 |
117 |
2.12e-7 |
SMART |
low complexity region
|
184 |
204 |
N/A |
INTRINSIC |
low complexity region
|
217 |
228 |
N/A |
INTRINSIC |
low complexity region
|
359 |
374 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171486
AA Change: V243E
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000127848 Gene: ENSMUSG00000024283 AA Change: V243E
Domain | Start | End | E-Value | Type |
low complexity region
|
55 |
77 |
N/A |
INTRINSIC |
WW
|
85 |
117 |
2.12e-7 |
SMART |
low complexity region
|
184 |
204 |
N/A |
INTRINSIC |
low complexity region
|
217 |
228 |
N/A |
INTRINSIC |
low complexity region
|
360 |
375 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172018
AA Change: V346E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128321 Gene: ENSMUSG00000024283 AA Change: V346E
Domain | Start | End | E-Value | Type |
low complexity region
|
55 |
77 |
N/A |
INTRINSIC |
WW
|
85 |
117 |
2.12e-7 |
SMART |
low complexity region
|
207 |
222 |
N/A |
INTRINSIC |
low complexity region
|
287 |
307 |
N/A |
INTRINSIC |
low complexity region
|
320 |
331 |
N/A |
INTRINSIC |
low complexity region
|
463 |
477 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168446
|
SMART Domains |
Protein: ENSMUSP00000131032 Gene: ENSMUSG00000024283
Domain | Start | End | E-Value | Type |
low complexity region
|
106 |
128 |
N/A |
INTRINSIC |
WW
|
136 |
168 |
2.12e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170854
|
SMART Domains |
Protein: ENSMUSP00000131141 Gene: ENSMUSG00000024283
Domain | Start | End | E-Value | Type |
low complexity region
|
100 |
115 |
N/A |
INTRINSIC |
low complexity region
|
187 |
207 |
N/A |
INTRINSIC |
low complexity region
|
220 |
231 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169478
|
SMART Domains |
Protein: ENSMUSP00000130467 Gene: ENSMUSG00000024283
Domain | Start | End | E-Value | Type |
low complexity region
|
94 |
108 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins containing short linear peptide motifs that are proline-rich or contain at least one proline. This gene product shares 94% sequence identity with the WAC protein in mouse, however, its exact function is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130401M01Rik |
A |
T |
15: 57,892,132 (GRCm39) |
N158K |
probably benign |
Het |
Acnat1 |
G |
C |
4: 49,447,457 (GRCm39) |
P357A |
probably damaging |
Het |
Akap6 |
T |
A |
12: 53,119,240 (GRCm39) |
C1102* |
probably null |
Het |
Amelx |
T |
C |
X: 167,964,826 (GRCm39) |
|
probably benign |
Het |
Brap |
G |
A |
5: 121,803,259 (GRCm39) |
V136I |
possibly damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Csgalnact1 |
TGG |
TG |
8: 68,913,737 (GRCm39) |
|
probably null |
Het |
Csk |
A |
T |
9: 57,537,556 (GRCm39) |
C119* |
probably null |
Het |
Dcbld1 |
T |
C |
10: 52,195,587 (GRCm39) |
L265P |
probably damaging |
Het |
Desi1 |
T |
A |
15: 81,887,976 (GRCm39) |
K31N |
probably damaging |
Het |
Dpy19l2 |
C |
A |
9: 24,607,285 (GRCm39) |
G59C |
probably damaging |
Het |
Eif2b5 |
T |
C |
16: 20,324,272 (GRCm39) |
V498A |
probably benign |
Het |
Epdr1 |
A |
T |
13: 19,778,815 (GRCm39) |
Y94N |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,404,905 (GRCm39) |
V552A |
probably benign |
Het |
Focad |
A |
G |
4: 88,325,588 (GRCm39) |
E151G |
possibly damaging |
Het |
Frem1 |
A |
G |
4: 82,932,351 (GRCm39) |
F117L |
probably damaging |
Het |
Frem2 |
A |
T |
3: 53,444,752 (GRCm39) |
Y2460N |
probably damaging |
Het |
Gm3604 |
A |
T |
13: 62,517,868 (GRCm39) |
C163* |
probably null |
Het |
Gpalpp1 |
A |
C |
14: 76,336,063 (GRCm39) |
|
probably null |
Het |
Grid2ip |
A |
G |
5: 143,373,933 (GRCm39) |
I858V |
probably damaging |
Het |
Grin2b |
ATTGTTGT |
ATTGT |
6: 135,709,453 (GRCm39) |
|
probably benign |
Het |
Hps4 |
A |
G |
5: 112,512,429 (GRCm39) |
T182A |
probably damaging |
Het |
Impa1 |
A |
T |
3: 10,394,075 (GRCm39) |
|
probably null |
Het |
Kcnh3 |
T |
C |
15: 99,131,862 (GRCm39) |
S606P |
probably damaging |
Het |
Kif23 |
T |
A |
9: 61,839,193 (GRCm39) |
R301* |
probably null |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lcp2 |
G |
T |
11: 34,040,670 (GRCm39) |
A529S |
probably benign |
Het |
Lhx8 |
G |
A |
3: 154,035,925 (GRCm39) |
A22V |
probably benign |
Het |
Lin28a |
A |
T |
4: 133,735,235 (GRCm39) |
S134T |
possibly damaging |
Het |
Med27 |
T |
A |
2: 29,236,882 (GRCm39) |
V9E |
possibly damaging |
Het |
Mmp7 |
C |
A |
9: 7,692,219 (GRCm39) |
S31R |
probably benign |
Het |
Mtcl1 |
T |
G |
17: 66,650,829 (GRCm39) |
E1545D |
probably benign |
Het |
Muc16 |
A |
G |
9: 18,409,126 (GRCm39) |
Y187H |
probably damaging |
Het |
Myo3a |
G |
T |
2: 22,404,679 (GRCm39) |
K678N |
possibly damaging |
Het |
Nsmce1 |
T |
C |
7: 125,085,645 (GRCm39) |
M15V |
probably benign |
Het |
Nxpe3 |
A |
T |
16: 55,670,078 (GRCm39) |
N342K |
probably damaging |
Het |
Or7g25 |
A |
G |
9: 19,160,495 (GRCm39) |
S67P |
probably damaging |
Het |
Or8g2 |
T |
A |
9: 39,821,756 (GRCm39) |
I219N |
probably damaging |
Het |
Pcdhb9 |
A |
G |
18: 37,534,663 (GRCm39) |
N219S |
probably benign |
Het |
Pck2 |
T |
A |
14: 55,781,449 (GRCm39) |
V190E |
probably damaging |
Het |
Pde4b |
G |
A |
4: 102,456,840 (GRCm39) |
A429T |
probably damaging |
Het |
Phf1 |
T |
C |
17: 27,153,429 (GRCm39) |
V54A |
probably damaging |
Het |
Pla2r1 |
T |
C |
2: 60,353,127 (GRCm39) |
E278G |
probably damaging |
Het |
Ptges3 |
G |
T |
10: 127,908,016 (GRCm39) |
R122L |
probably benign |
Het |
Rnpepl1 |
C |
T |
1: 92,844,881 (GRCm39) |
T391I |
probably damaging |
Het |
Rps6kb1 |
G |
A |
11: 86,397,633 (GRCm39) |
A404V |
probably benign |
Het |
Rrm2b |
T |
C |
15: 37,945,391 (GRCm39) |
|
probably null |
Het |
Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
Skint9 |
T |
G |
4: 112,248,148 (GRCm39) |
I199L |
probably benign |
Het |
Slc9b2 |
G |
T |
3: 135,042,290 (GRCm39) |
R523L |
probably benign |
Het |
Slco1c1 |
T |
A |
6: 141,477,174 (GRCm39) |
|
probably null |
Het |
Stox2 |
T |
C |
8: 47,645,865 (GRCm39) |
T532A |
probably damaging |
Het |
Tbcel |
A |
G |
9: 42,327,248 (GRCm39) |
L385P |
probably damaging |
Het |
Tle5 |
A |
G |
10: 81,401,474 (GRCm39) |
N181D |
probably benign |
Het |
Tmem268 |
G |
A |
4: 63,496,149 (GRCm39) |
|
probably null |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Top3a |
G |
A |
11: 60,650,182 (GRCm39) |
T122M |
probably damaging |
Het |
Trav7n-4 |
G |
A |
14: 53,329,088 (GRCm39) |
V33I |
probably benign |
Het |
Ttn |
T |
G |
2: 76,539,551 (GRCm39) |
E26151D |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,687,228 (GRCm39) |
|
probably benign |
Het |
Tyk2 |
A |
G |
9: 21,035,328 (GRCm39) |
C195R |
possibly damaging |
Het |
Ugt2b38 |
T |
C |
5: 87,558,078 (GRCm39) |
K528E |
probably damaging |
Het |
Usp28 |
T |
A |
9: 48,937,125 (GRCm39) |
D483E |
probably benign |
Het |
Vldlr |
A |
G |
19: 27,220,554 (GRCm39) |
D598G |
probably damaging |
Het |
Vmn1r51 |
T |
G |
6: 90,106,498 (GRCm39) |
I138S |
probably damaging |
Het |
Vps13b |
G |
A |
15: 35,869,541 (GRCm39) |
A2682T |
probably damaging |
Het |
Zdbf2 |
T |
C |
1: 63,347,579 (GRCm39) |
V1986A |
possibly damaging |
Het |
|
Other mutations in Wac |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02404:Wac
|
APN |
18 |
7,917,570 (GRCm39) |
missense |
probably damaging |
1.00 |
BB007:Wac
|
UTSW |
18 |
7,921,560 (GRCm39) |
missense |
possibly damaging |
0.47 |
BB017:Wac
|
UTSW |
18 |
7,921,560 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1077:Wac
|
UTSW |
18 |
7,921,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R2915:Wac
|
UTSW |
18 |
7,926,131 (GRCm39) |
missense |
possibly damaging |
0.96 |
R3793:Wac
|
UTSW |
18 |
7,920,190 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3840:Wac
|
UTSW |
18 |
7,918,535 (GRCm39) |
missense |
probably damaging |
1.00 |
R3971:Wac
|
UTSW |
18 |
7,916,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R6402:Wac
|
UTSW |
18 |
7,901,585 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6429:Wac
|
UTSW |
18 |
7,920,163 (GRCm39) |
missense |
probably damaging |
0.97 |
R6536:Wac
|
UTSW |
18 |
7,905,189 (GRCm39) |
splice site |
probably null |
|
R6615:Wac
|
UTSW |
18 |
7,868,884 (GRCm39) |
splice site |
probably null |
|
R6645:Wac
|
UTSW |
18 |
7,973,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R7088:Wac
|
UTSW |
18 |
7,921,455 (GRCm39) |
missense |
probably damaging |
0.99 |
R7464:Wac
|
UTSW |
18 |
7,871,746 (GRCm39) |
critical splice donor site |
probably null |
|
R7760:Wac
|
UTSW |
18 |
7,921,913 (GRCm39) |
missense |
probably benign |
0.43 |
R7930:Wac
|
UTSW |
18 |
7,921,560 (GRCm39) |
missense |
possibly damaging |
0.47 |
R8515:Wac
|
UTSW |
18 |
7,871,606 (GRCm39) |
missense |
probably benign |
0.01 |
R8903:Wac
|
UTSW |
18 |
7,926,104 (GRCm39) |
nonsense |
probably null |
|
R8965:Wac
|
UTSW |
18 |
7,905,936 (GRCm39) |
missense |
probably benign |
0.18 |
R9149:Wac
|
UTSW |
18 |
7,921,592 (GRCm39) |
missense |
probably damaging |
0.99 |
X0066:Wac
|
UTSW |
18 |
7,916,298 (GRCm39) |
critical splice donor site |
probably null |
|
Z1176:Wac
|
UTSW |
18 |
7,973,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGTTGACCTTTATTGTTAGCCTG -3'
(R):5'- TGAATACCAAAGTCTACAGTGAAGG -3'
Sequencing Primer
(F):5'- AAGGGGTCAGATCCTGTAGTTAC -3'
(R):5'- TCTGGAACTAAAAATCAAGCTTTCCC -3'
|
Posted On |
2015-02-18 |