Incidental Mutation 'R3971:Wac'
ID |
310997 |
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 |
040839-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3971 (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 C
at 7916175 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 303
(V303A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128321
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074919]
[ENSMUST00000092112]
[ENSMUST00000166062]
[ENSMUST00000167020]
[ENSMUST00000170854]
[ENSMUST00000171042]
[ENSMUST00000171486]
[ENSMUST00000172018]
[ENSMUST00000169478]
[ENSMUST00000168446]
|
AlphaFold |
Q924H7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000074919
AA Change: V303A
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000074454 Gene: ENSMUSG00000024283 AA Change: V303A
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: V245A
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000089746 Gene: ENSMUSG00000024283 AA Change: V245A
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 |
possibly damaging
Transcript: ENSMUST00000166062
AA Change: V303A
PolyPhen 2
Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000132532 Gene: ENSMUSG00000024283 AA Change: V303A
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: V348A
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000132117 Gene: ENSMUSG00000024283 AA Change: V348A
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: V110A
|
SMART Domains |
Protein: ENSMUSP00000125989 Gene: ENSMUSG00000024283 AA Change: V110A
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: ENSMUST00000170854
AA Change: V203A
PolyPhen 2
Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000131141 Gene: ENSMUSG00000024283 AA Change: V203A
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 |
possibly damaging
Transcript: ENSMUST00000171042
AA Change: V200A
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000133185 Gene: ENSMUSG00000024283 AA Change: V200A
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: V200A
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000127848 Gene: ENSMUSG00000024283 AA Change: V200A
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: V303A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000128321 Gene: ENSMUSG00000024283 AA Change: V303A
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: ENSMUST00000169478
|
SMART Domains |
Protein: ENSMUSP00000130467 Gene: ENSMUSG00000024283
Domain | Start | End | E-Value | Type |
low complexity region
|
94 |
108 |
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
95% (38/40) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadat |
C |
T |
8: 60,971,615 (GRCm39) |
P147L |
probably damaging |
Het |
Apbb1ip |
T |
A |
2: 22,713,506 (GRCm39) |
D120E |
unknown |
Het |
Atp10b |
A |
G |
11: 43,107,339 (GRCm39) |
D791G |
probably damaging |
Het |
Aunip |
A |
G |
4: 134,250,780 (GRCm39) |
K242E |
possibly damaging |
Het |
Ccdc80 |
A |
G |
16: 44,916,183 (GRCm39) |
E313G |
probably benign |
Het |
Cd72 |
C |
T |
4: 43,449,491 (GRCm39) |
R275H |
probably damaging |
Het |
Chrnb1 |
A |
G |
11: 69,683,742 (GRCm39) |
|
probably benign |
Het |
Coro2b |
C |
T |
9: 62,336,522 (GRCm39) |
A251T |
possibly damaging |
Het |
Cspg4b |
A |
G |
13: 113,453,660 (GRCm39) |
E41G |
probably damaging |
Het |
Ddr2 |
A |
G |
1: 169,815,986 (GRCm39) |
F574L |
probably damaging |
Het |
Dock1 |
G |
A |
7: 134,348,637 (GRCm39) |
D284N |
probably damaging |
Het |
Dync1h1 |
A |
G |
12: 110,632,399 (GRCm39) |
H4506R |
probably benign |
Het |
Fam174b |
T |
C |
7: 73,416,348 (GRCm39) |
V147A |
probably damaging |
Het |
Glp2r |
T |
A |
11: 67,637,641 (GRCm39) |
D130V |
possibly damaging |
Het |
Gm18856 |
A |
T |
13: 14,139,433 (GRCm39) |
|
probably benign |
Het |
Gm7247 |
A |
G |
14: 51,602,841 (GRCm39) |
Y59C |
probably damaging |
Het |
Hecw1 |
T |
C |
13: 14,411,514 (GRCm39) |
D1062G |
probably damaging |
Het |
Ifit2 |
A |
G |
19: 34,551,441 (GRCm39) |
E327G |
probably benign |
Het |
Ighv1-37 |
A |
T |
12: 114,860,079 (GRCm39) |
S43T |
probably damaging |
Het |
Man2b1 |
A |
G |
8: 85,812,020 (GRCm39) |
N158S |
probably damaging |
Het |
Mcoln1 |
T |
A |
8: 3,557,408 (GRCm39) |
I138K |
probably benign |
Het |
Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,218,857 (GRCm39) |
D193N |
possibly damaging |
Het |
Myo5b |
C |
T |
18: 74,873,598 (GRCm39) |
L1501F |
probably damaging |
Het |
Nckap1l |
A |
G |
15: 103,370,987 (GRCm39) |
K189E |
probably damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or6c69 |
T |
C |
10: 129,747,742 (GRCm39) |
N135S |
probably benign |
Het |
Otop1 |
A |
G |
5: 38,457,533 (GRCm39) |
I431V |
probably benign |
Het |
Psma8 |
A |
G |
18: 14,890,444 (GRCm39) |
K195E |
possibly damaging |
Het |
Rbm25 |
A |
G |
12: 83,721,982 (GRCm39) |
T723A |
probably benign |
Het |
Sema3b |
A |
G |
9: 107,477,567 (GRCm39) |
S485P |
probably benign |
Het |
Slc12a2 |
T |
A |
18: 58,063,268 (GRCm39) |
L916Q |
possibly damaging |
Het |
Spata31d1a |
T |
A |
13: 59,849,971 (GRCm39) |
D719V |
possibly damaging |
Het |
Synj1 |
A |
G |
16: 90,788,491 (GRCm39) |
S86P |
probably damaging |
Het |
Tmem130 |
T |
A |
5: 144,692,131 (GRCm39) |
H91L |
probably benign |
Het |
Tsc2 |
T |
C |
17: 24,842,562 (GRCm39) |
D288G |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Vps35l |
T |
C |
7: 118,433,022 (GRCm39) |
I585T |
probably damaging |
Het |
Zfhx2 |
A |
G |
14: 55,311,932 (GRCm39) |
V254A |
probably benign |
Het |
Zfp993 |
A |
G |
4: 146,742,089 (GRCm39) |
T138A |
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 |
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 |
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'- GCACACAGATGATGTTGCTGTG -3'
(R):5'- ACTAAGAGTCATTCCTTGAGTTGAG -3'
Sequencing Primer
(F):5'- CACAGATGATGTTGCTGTGATATAG -3'
(R):5'- CTGTAAGTATGGGTATTCACC -3'
|
Posted On |
2015-04-29 |