Incidental Mutation 'R7760:Wac'
ID |
597828 |
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 |
045816-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7760 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
7868832-7929028 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 7921913 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 601
(C601S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132117
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074919]
[ENSMUST00000092112]
[ENSMUST00000167020]
[ENSMUST00000169478]
[ENSMUST00000171042]
[ENSMUST00000171486]
[ENSMUST00000172018]
|
AlphaFold |
Q924H7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074919
AA Change: C556S
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000074454 Gene: ENSMUSG00000024283 AA Change: C556S
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: C498S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000089746 Gene: ENSMUSG00000024283 AA Change: C498S
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: ENSMUST00000167020
AA Change: C601S
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000132117 Gene: ENSMUSG00000024283 AA Change: C601S
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: 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: C183S
PolyPhen 2
Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000130467 Gene: ENSMUSG00000024283 AA Change: C183S
Domain | Start | End | E-Value | Type |
low complexity region
|
94 |
108 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171042
AA Change: C449S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000133185 Gene: ENSMUSG00000024283 AA Change: C449S
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: C450S
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000127848 Gene: ENSMUSG00000024283 AA Change: C450S
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: C552S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128321 Gene: ENSMUSG00000024283 AA Change: C552S
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (55/55) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anxa11 |
C |
T |
14: 25,873,251 (GRCm39) |
Q162* |
probably null |
Het |
Arg1 |
T |
G |
10: 24,803,361 (GRCm39) |
|
probably benign |
Het |
Arl6 |
T |
C |
16: 59,439,169 (GRCm39) |
D175G |
probably damaging |
Het |
Capg |
A |
G |
6: 72,534,769 (GRCm39) |
R199G |
probably damaging |
Het |
Ceacam1 |
T |
A |
7: 25,171,450 (GRCm39) |
E338V |
probably damaging |
Het |
Clec4d |
A |
G |
6: 123,247,300 (GRCm39) |
N148D |
probably benign |
Het |
Ctr9 |
T |
G |
7: 110,645,808 (GRCm39) |
I653R |
probably damaging |
Het |
Dmwd |
C |
T |
7: 18,814,660 (GRCm39) |
L437F |
probably damaging |
Het |
Dnah7b |
T |
A |
1: 46,240,413 (GRCm39) |
L1510Q |
probably damaging |
Het |
Efcab5 |
T |
A |
11: 77,042,752 (GRCm39) |
E136D |
probably benign |
Het |
Elfn2 |
C |
T |
15: 78,558,041 (GRCm39) |
A169T |
probably benign |
Het |
Elp1 |
A |
G |
4: 56,790,892 (GRCm39) |
V287A |
probably benign |
Het |
Esrp2 |
T |
A |
8: 106,860,102 (GRCm39) |
E326D |
probably benign |
Het |
Fbrs |
T |
C |
7: 127,088,572 (GRCm39) |
V718A |
probably damaging |
Het |
Fbxl21 |
C |
T |
13: 56,684,816 (GRCm39) |
R307C |
probably benign |
Het |
Fbxl21 |
T |
C |
13: 56,674,747 (GRCm39) |
S33P |
probably benign |
Het |
Gatad2b |
C |
T |
3: 90,261,776 (GRCm39) |
R461W |
probably damaging |
Het |
Gm19410 |
T |
A |
8: 36,269,491 (GRCm39) |
C1109S |
probably damaging |
Het |
Gm6882 |
T |
A |
7: 21,161,409 (GRCm39) |
D153V |
probably damaging |
Het |
Golga3 |
A |
G |
5: 110,353,716 (GRCm39) |
E918G |
probably benign |
Het |
Greb1 |
T |
C |
12: 16,773,417 (GRCm39) |
N219S |
probably benign |
Het |
Grpel1 |
G |
T |
5: 36,627,986 (GRCm39) |
R89L |
probably damaging |
Het |
Ighv5-12 |
T |
A |
12: 113,665,795 (GRCm39) |
Q101L |
probably benign |
Het |
Ldb3 |
T |
A |
14: 34,264,460 (GRCm39) |
N590I |
probably damaging |
Het |
Man2c1 |
T |
C |
9: 57,046,647 (GRCm39) |
V636A |
probably benign |
Het |
Mblac2 |
G |
T |
13: 81,859,996 (GRCm39) |
V117L |
probably benign |
Het |
Muc6 |
T |
A |
7: 141,237,322 (GRCm39) |
|
probably null |
Het |
Nfatc3 |
A |
G |
8: 106,834,973 (GRCm39) |
E773G |
possibly damaging |
Het |
Ngef |
T |
C |
1: 87,468,495 (GRCm39) |
D88G |
probably benign |
Het |
Nipbl |
T |
C |
15: 8,388,186 (GRCm39) |
E478G |
probably damaging |
Het |
Or2t6 |
T |
C |
14: 14,175,905 (GRCm38) |
Y59C |
probably damaging |
Het |
Pbx4 |
C |
A |
8: 70,285,445 (GRCm39) |
D29E |
probably benign |
Het |
Pcdhgb5 |
A |
G |
18: 37,864,690 (GRCm39) |
I162V |
not run |
Het |
Pdcd11 |
G |
A |
19: 47,101,637 (GRCm39) |
V941M |
possibly damaging |
Het |
Pigr |
A |
T |
1: 130,774,368 (GRCm39) |
R449S |
possibly damaging |
Het |
Plcb2 |
T |
C |
2: 118,541,869 (GRCm39) |
T914A |
probably benign |
Het |
Ppp5c |
A |
G |
7: 16,740,274 (GRCm39) |
S387P |
probably damaging |
Het |
Rnf7l |
T |
C |
10: 63,257,316 (GRCm39) |
K68R |
probably damaging |
Het |
Rtkn2 |
T |
G |
10: 67,841,439 (GRCm39) |
S196A |
probably damaging |
Het |
Sec31a |
A |
G |
5: 100,540,487 (GRCm39) |
F400L |
probably damaging |
Het |
Senp7 |
A |
T |
16: 55,959,442 (GRCm39) |
M251L |
probably benign |
Het |
Slc6a5 |
T |
C |
7: 49,596,365 (GRCm39) |
F612L |
probably benign |
Het |
Slc7a9 |
T |
C |
7: 35,156,500 (GRCm39) |
I314T |
possibly damaging |
Het |
Smc5 |
A |
C |
19: 23,213,254 (GRCm39) |
S553A |
probably benign |
Het |
Spaca3 |
T |
A |
11: 80,755,389 (GRCm39) |
V133D |
probably damaging |
Het |
Taco1 |
T |
A |
11: 105,963,938 (GRCm39) |
D232E |
possibly damaging |
Het |
Tarbp1 |
C |
T |
8: 127,179,546 (GRCm39) |
R664H |
not run |
Het |
Tlk2 |
T |
C |
11: 105,169,993 (GRCm39) |
I674T |
probably damaging |
Het |
Tnxb |
A |
T |
17: 34,931,911 (GRCm39) |
E2148V |
probably damaging |
Het |
Tom1l2 |
T |
C |
11: 60,165,791 (GRCm39) |
S59G |
probably benign |
Het |
Traj46 |
A |
T |
14: 54,409,813 (GRCm39) |
H7L |
|
Het |
Traj46 |
T |
G |
14: 54,409,814 (GRCm39) |
H7Q |
|
Het |
Trav6-4 |
T |
A |
14: 53,692,103 (GRCm39) |
L70Q |
possibly damaging |
Het |
Trmt1l |
C |
T |
1: 151,318,425 (GRCm39) |
T245I |
possibly damaging |
Het |
Wnt3 |
T |
A |
11: 103,702,266 (GRCm39) |
H145Q |
probably benign |
Het |
Zfp948 |
T |
C |
17: 21,808,628 (GRCm39) |
C607R |
probably 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 |
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 |
|
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'- ATCATTTCATCTGCTAGGGTGC -3'
(R):5'- CACCTGTGTGGGTAACGTTG -3'
Sequencing Primer
(F):5'- TGCTGGGATTATGTAGATGCAC -3'
(R):5'- CAGGTTTGCTGGCCAAATC -3'
|
Posted On |
2019-11-26 |