Incidental Mutation 'R3793:Wac'
| ID |
272673 |
| 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 |
040755-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3793 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
7868832-7929028 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7920190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 348
(V348A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127848
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074919]
[ENSMUST00000092112]
[ENSMUST00000166062]
[ENSMUST00000167020]
[ENSMUST00000169478]
[ENSMUST00000171042]
[ENSMUST00000171486]
[ENSMUST00000172018]
[ENSMUST00000168446]
[ENSMUST00000170854]
|
| AlphaFold |
Q924H7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074919
AA Change: V454A
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000074454
Gene: ENSMUSG00000024283
AA Change: V454A
| 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 |
possibly damaging
Transcript: ENSMUST00000092112
AA Change: V396A
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000089746
Gene: ENSMUSG00000024283
AA Change: V396A
| 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 |
unknown
Transcript: ENSMUST00000165854
AA Change: V252A
|
| SMART Domains |
Protein: ENSMUSP00000126815
Gene: ENSMUSG00000024283
AA Change: V252A
| 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 |
possibly damaging
Transcript: ENSMUST00000167020
AA Change: V499A
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000132117
Gene: ENSMUSG00000024283
AA Change: V499A
| 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 |
probably benign
Transcript: ENSMUST00000167542
|
| SMART Domains |
Protein: ENSMUSP00000125989
Gene: ENSMUSG00000024283
| 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 benign
Transcript: ENSMUST00000169478
AA Change: V82A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000130467
Gene: ENSMUSG00000024283
AA Change: V82A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
94 |
108 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171042
AA Change: V347A
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000133185
Gene: ENSMUSG00000024283
AA Change: V347A
| 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 |
possibly damaging
Transcript: ENSMUST00000171486
AA Change: V348A
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127848
Gene: ENSMUSG00000024283
AA Change: V348A
| 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 benign
Transcript: ENSMUST00000172018
AA Change: V451A
PolyPhen 2
Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128321
Gene: ENSMUSG00000024283
AA Change: V451A
| 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 |
|
| Meta Mutation Damage Score |
0.0604 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.4%
|
| Validation Efficiency |
98% (50/51) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
A |
G |
7: 75,259,889 (GRCm39) |
T35A |
probably benign |
Het |
| Arhgap32 |
T |
A |
9: 32,166,669 (GRCm39) |
S435R |
probably damaging |
Het |
| Asic1 |
A |
T |
15: 99,569,906 (GRCm39) |
K76* |
probably null |
Het |
| B9d1 |
A |
G |
11: 61,398,448 (GRCm39) |
|
probably benign |
Het |
| Casd1 |
T |
C |
6: 4,619,876 (GRCm39) |
V207A |
possibly damaging |
Het |
| Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
| Cnfn |
T |
C |
7: 25,067,805 (GRCm39) |
N45S |
probably benign |
Het |
| Col14a1 |
G |
T |
15: 55,226,909 (GRCm39) |
D220Y |
unknown |
Het |
| Csn1s1 |
T |
A |
5: 87,828,702 (GRCm39) |
Y274* |
probably null |
Het |
| Cyp2c69 |
T |
C |
19: 39,869,600 (GRCm39) |
T140A |
probably benign |
Het |
| Dlg2 |
A |
T |
7: 91,459,743 (GRCm39) |
|
probably benign |
Het |
| Esp16 |
T |
C |
17: 39,848,739 (GRCm39) |
I11T |
possibly damaging |
Het |
| Esyt3 |
A |
T |
9: 99,197,334 (GRCm39) |
F832Y |
possibly damaging |
Het |
| Ift172 |
C |
T |
5: 31,414,925 (GRCm39) |
D1366N |
possibly damaging |
Het |
| Itga4 |
A |
G |
2: 79,109,472 (GRCm39) |
T224A |
probably benign |
Het |
| Itprid1 |
A |
T |
6: 55,952,588 (GRCm39) |
M844L |
possibly damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Krt71 |
C |
T |
15: 101,651,345 (GRCm39) |
S46N |
probably damaging |
Het |
| Lhx1 |
A |
G |
11: 84,412,726 (GRCm39) |
S65P |
probably benign |
Het |
| Lingo4 |
A |
G |
3: 94,309,685 (GRCm39) |
S208G |
probably benign |
Het |
| Lrrc2 |
T |
A |
9: 110,795,585 (GRCm39) |
C123* |
probably null |
Het |
| Nfrkb |
A |
T |
9: 31,321,228 (GRCm39) |
|
probably benign |
Het |
| Nfx1 |
T |
A |
4: 41,004,357 (GRCm39) |
C709* |
probably null |
Het |
| Nlrp14 |
A |
T |
7: 106,781,481 (GRCm39) |
Q226L |
probably benign |
Het |
| Ocln |
T |
C |
13: 100,635,402 (GRCm39) |
R496G |
possibly damaging |
Het |
| Or2b2b |
T |
C |
13: 21,859,153 (GRCm39) |
|
probably null |
Het |
| Or7e173 |
T |
A |
9: 19,938,359 (GRCm39) |
I292F |
probably damaging |
Het |
| Osgepl1 |
T |
C |
1: 53,359,406 (GRCm39) |
I305T |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,887,487 (GRCm39) |
N266S |
probably benign |
Het |
| Per1 |
A |
G |
11: 69,000,127 (GRCm39) |
E1273G |
probably benign |
Het |
| Plch1 |
A |
G |
3: 63,605,252 (GRCm39) |
Y1542H |
probably damaging |
Het |
| Pold1 |
A |
G |
7: 44,190,994 (GRCm39) |
F252L |
probably damaging |
Het |
| Ptk2b |
A |
T |
14: 66,407,700 (GRCm39) |
D607E |
probably damaging |
Het |
| Sdf4 |
T |
A |
4: 156,086,916 (GRCm39) |
|
probably null |
Het |
| Sirt4 |
T |
C |
5: 115,618,351 (GRCm39) |
D241G |
probably benign |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,622,033 (GRCm39) |
Y531C |
probably damaging |
Het |
| Tmem200a |
A |
T |
10: 25,870,087 (GRCm39) |
S61T |
probably damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,030,810 (GRCm39) |
I1784V |
probably damaging |
Het |
| Uba2 |
A |
C |
7: 33,845,722 (GRCm39) |
V467G |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,747,525 (GRCm39) |
S263P |
possibly damaging |
Het |
| Ugt2b35 |
A |
G |
5: 87,149,465 (GRCm39) |
T239A |
probably benign |
Het |
| Wdr3 |
A |
T |
3: 100,059,281 (GRCm39) |
M346K |
probably benign |
Het |
| Zfp607a |
A |
T |
7: 27,578,331 (GRCm39) |
H467L |
probably benign |
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 |
|
R3196:Wac
|
UTSW |
18 |
7,917,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGGGCAAATGTATACACAAAGC -3'
(R):5'- CATGGACCTGTCAACAAATTCTTC -3'
Sequencing Primer
(F):5'- CTTAGTGAAAACTGCTAATTTTACGC -3'
(R):5'- ACCTGTCAACAAATTCTTCTGTAATG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation