Incidental Mutation 'R2915:Wac'
ID |
254869 |
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 |
040502-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2915 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
7868832-7929028 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 7926131 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 596
(M596L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128321
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074919]
[ENSMUST00000092112]
[ENSMUST00000167020]
[ENSMUST00000169478]
[ENSMUST00000171042]
[ENSMUST00000172018]
[ENSMUST00000171486]
|
AlphaFold |
Q924H7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074919
AA Change: M600L
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000074454 Gene: ENSMUSG00000024283 AA Change: M600L
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: M542L
PolyPhen 2
Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000089746 Gene: ENSMUSG00000024283 AA Change: M542L
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: ENSMUST00000167020
AA Change: M645L
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000132117 Gene: ENSMUSG00000024283 AA Change: M645L
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 |
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 |
possibly damaging
Transcript: ENSMUST00000171042
AA Change: M493L
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000133185 Gene: ENSMUSG00000024283 AA Change: M493L
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: ENSMUST00000172018
AA Change: M596L
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000128321 Gene: ENSMUSG00000024283 AA Change: M596L
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: ENSMUST00000171486
AA Change: M494L
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000127848 Gene: ENSMUSG00000024283 AA Change: M494L
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 |
|
Meta Mutation Damage Score |
0.3249 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
Arhgap11a |
A |
G |
2: 113,663,853 (GRCm39) |
V810A |
probably damaging |
Het |
B3gnt6 |
T |
C |
7: 97,842,800 (GRCm39) |
N387D |
probably benign |
Het |
Col5a2 |
C |
G |
1: 45,452,656 (GRCm39) |
G358R |
probably damaging |
Het |
Cracr2a |
A |
G |
6: 127,588,468 (GRCm39) |
K209R |
probably damaging |
Het |
Dmkn |
A |
G |
7: 30,464,741 (GRCm39) |
N32S |
unknown |
Het |
Dusp13b |
T |
A |
14: 21,790,205 (GRCm39) |
N47I |
probably damaging |
Het |
Elmo2 |
A |
G |
2: 165,139,573 (GRCm39) |
|
probably benign |
Het |
Ephb6 |
T |
C |
6: 41,591,172 (GRCm39) |
F110L |
probably damaging |
Het |
Gabrb2 |
T |
A |
11: 42,482,734 (GRCm39) |
N197K |
probably benign |
Het |
Gdnf |
T |
A |
15: 7,845,130 (GRCm39) |
V41E |
possibly damaging |
Het |
Gm21915 |
A |
G |
9: 40,582,083 (GRCm39) |
I59V |
possibly damaging |
Het |
Gprin2 |
C |
T |
14: 33,917,038 (GRCm39) |
G244D |
possibly damaging |
Het |
Grin2d |
T |
C |
7: 45,482,781 (GRCm39) |
|
probably benign |
Het |
Ice2 |
A |
G |
9: 69,318,122 (GRCm39) |
D241G |
probably benign |
Het |
Mios |
C |
T |
6: 8,214,935 (GRCm39) |
R44C |
possibly damaging |
Het |
Nlrp5-ps |
T |
C |
7: 14,320,636 (GRCm39) |
|
noncoding transcript |
Het |
Nyap2 |
C |
T |
1: 81,065,188 (GRCm39) |
R67* |
probably null |
Het |
Or4d6 |
G |
A |
19: 12,085,989 (GRCm39) |
P81L |
probably benign |
Het |
Or4f14 |
G |
T |
2: 111,743,064 (GRCm39) |
D70E |
probably damaging |
Het |
Or5m8 |
T |
A |
2: 85,822,389 (GRCm39) |
V76E |
probably damaging |
Het |
Or5t9 |
T |
C |
2: 86,659,570 (GRCm39) |
I158T |
probably benign |
Het |
Or8g19 |
G |
T |
9: 39,055,762 (GRCm39) |
R122L |
possibly damaging |
Het |
Otop2 |
G |
A |
11: 115,219,972 (GRCm39) |
A271T |
probably benign |
Het |
Otulin |
A |
G |
15: 27,619,716 (GRCm39) |
|
probably benign |
Het |
Pax1 |
A |
G |
2: 147,210,348 (GRCm39) |
Y361C |
probably damaging |
Het |
Pcdhb12 |
A |
T |
18: 37,570,693 (GRCm39) |
N613I |
probably damaging |
Het |
Plekha5 |
A |
G |
6: 140,534,925 (GRCm39) |
K173E |
probably damaging |
Het |
Plin4 |
T |
A |
17: 56,411,389 (GRCm39) |
T881S |
probably damaging |
Het |
Poli |
A |
G |
18: 70,655,771 (GRCm39) |
|
probably null |
Het |
Prex2 |
T |
A |
1: 11,240,077 (GRCm39) |
F898I |
probably damaging |
Het |
Prr14l |
A |
T |
5: 32,987,112 (GRCm39) |
H794Q |
probably benign |
Het |
Prss1 |
A |
T |
6: 41,439,545 (GRCm39) |
I93F |
probably benign |
Het |
Ptpro |
C |
T |
6: 137,391,239 (GRCm39) |
|
probably benign |
Het |
Rad1 |
T |
C |
15: 10,486,728 (GRCm39) |
C42R |
probably damaging |
Het |
Rnf20 |
A |
G |
4: 49,638,769 (GRCm39) |
E197G |
probably benign |
Het |
Setx |
A |
G |
2: 29,062,336 (GRCm39) |
E2260G |
probably damaging |
Het |
Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
Six2 |
A |
G |
17: 85,992,616 (GRCm39) |
S296P |
probably damaging |
Het |
Smg1 |
T |
A |
7: 117,810,102 (GRCm39) |
|
probably benign |
Het |
Spred2 |
T |
C |
11: 19,948,215 (GRCm39) |
V41A |
probably damaging |
Het |
Ssu2 |
A |
T |
6: 112,354,566 (GRCm39) |
C219* |
probably null |
Het |
Tbc1d9b |
T |
A |
11: 50,040,563 (GRCm39) |
V360D |
possibly damaging |
Het |
Tdrd9 |
G |
A |
12: 112,006,895 (GRCm39) |
D920N |
probably damaging |
Het |
Tyrp1 |
A |
G |
4: 80,755,692 (GRCm39) |
T154A |
possibly damaging |
Het |
Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
Zfhx2 |
G |
T |
14: 55,302,014 (GRCm39) |
P1990Q |
probably damaging |
Het |
Zfp853 |
T |
C |
5: 143,275,332 (GRCm39) |
E96G |
unknown |
Het |
Zzef1 |
G |
A |
11: 72,801,152 (GRCm39) |
|
probably null |
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 |
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 |
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'- CTTCAGCTCCTTGGGTGTTAAATACTC -3'
(R):5'- AGCTCTGTTACACATGGCTTCC -3'
Sequencing Primer
(F):5'- CTCCTTGGGTGTTAAATACTCTTAAC -3'
(R):5'- TTCCCATGGCTTCACTCTACAAAAC -3'
|
Posted On |
2014-12-29 |