Incidental Mutation 'R6536:Wac'
| ID |
543529 |
| 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 |
044662-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6536 (G1)
|
| Quality Score |
58.0073 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
7868832-7929028 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 7905189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074919]
[ENSMUST00000092112]
[ENSMUST00000166062]
[ENSMUST00000167020]
[ENSMUST00000168446]
[ENSMUST00000169010]
[ENSMUST00000171042]
[ENSMUST00000171486]
[ENSMUST00000172018]
|
| AlphaFold |
Q924H7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000074919
|
| SMART Domains |
Protein: ENSMUSP00000074454
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 |
|
low complexity region
|
466 |
481 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000092112
|
| SMART Domains |
Protein: ENSMUSP00000089746
Gene: ENSMUSG00000024283
| 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 null
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 null
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 null
Transcript: ENSMUST00000167020
|
| SMART Domains |
Protein: ENSMUSP00000132117
Gene: ENSMUSG00000024283
| 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 null
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 null
Transcript: ENSMUST00000169010
|
| SMART Domains |
Protein: ENSMUSP00000131750
Gene: ENSMUSG00000024283
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
77 |
N/A |
INTRINSIC |
|
Pfam:WW
|
86 |
113 |
2.8e-10 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171042
|
| SMART Domains |
Protein: ENSMUSP00000133185
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
|
184 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
374 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171486
|
| SMART Domains |
Protein: ENSMUSP00000127848
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
|
184 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
360 |
375 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000172018
|
| SMART Domains |
Protein: ENSMUSP00000128321
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 |
|
low complexity region
|
463 |
477 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (36/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
G |
T |
11: 48,910,550 (GRCm39) |
H628N |
probably benign |
Het |
| Abcb1a |
T |
A |
5: 8,769,030 (GRCm39) |
F751I |
probably benign |
Het |
| Adamts13 |
G |
A |
2: 26,865,762 (GRCm39) |
V106M |
probably damaging |
Het |
| Add1 |
C |
A |
5: 34,758,780 (GRCm39) |
N31K |
possibly damaging |
Het |
| Adgrf5 |
G |
T |
17: 43,733,552 (GRCm39) |
|
probably benign |
Het |
| Akap11 |
T |
G |
14: 78,748,754 (GRCm39) |
D1211A |
possibly damaging |
Het |
| Atp5f1c |
G |
A |
2: 10,085,127 (GRCm39) |
|
probably benign |
Het |
| Cd320 |
T |
C |
17: 34,066,477 (GRCm39) |
S72P |
probably benign |
Het |
| Clca4b |
C |
A |
3: 144,622,490 (GRCm39) |
W525L |
possibly damaging |
Het |
| Cripto |
A |
T |
9: 110,773,257 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
G |
A |
15: 47,701,863 (GRCm39) |
T1740I |
probably damaging |
Het |
| Dnah7c |
T |
G |
1: 46,697,450 (GRCm39) |
S2122A |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,726,027 (GRCm39) |
N583S |
probably damaging |
Het |
| Fcsk |
A |
G |
8: 111,610,511 (GRCm39) |
V964A |
possibly damaging |
Het |
| Gpd2 |
A |
T |
2: 57,235,367 (GRCm39) |
I366F |
probably benign |
Het |
| Hsd17b2 |
G |
A |
8: 118,428,921 (GRCm39) |
V63M |
possibly damaging |
Het |
| Hsdl2 |
A |
T |
4: 59,610,508 (GRCm39) |
|
probably null |
Het |
| Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
| Ifi44 |
A |
G |
3: 151,438,126 (GRCm39) |
V387A |
probably benign |
Het |
| Kcnc4 |
T |
C |
3: 107,355,512 (GRCm39) |
D312G |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Klra6 |
C |
T |
6: 130,000,682 (GRCm39) |
V41I |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,393,937 (GRCm39) |
|
probably null |
Het |
| Mpdz |
T |
C |
4: 81,301,654 (GRCm39) |
E257G |
probably damaging |
Het |
| Or10v1 |
T |
C |
19: 11,873,760 (GRCm39) |
V125A |
probably benign |
Het |
| Or4f14 |
T |
C |
2: 111,743,119 (GRCm39) |
D52G |
possibly damaging |
Het |
| Papln |
A |
G |
12: 83,828,661 (GRCm39) |
Y789C |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,467,221 (GRCm39) |
L1680P |
probably damaging |
Het |
| Pcdhac1 |
A |
G |
18: 37,223,367 (GRCm39) |
N60S |
probably benign |
Het |
| Polr3g |
T |
C |
13: 81,826,335 (GRCm39) |
N162S |
unknown |
Het |
| Pou3f3 |
A |
G |
1: 42,737,374 (GRCm39) |
I357V |
probably damaging |
Het |
| Sycp2 |
A |
G |
2: 177,993,441 (GRCm39) |
S1235P |
probably damaging |
Het |
| Tns3 |
A |
T |
11: 8,384,531 (GRCm39) |
V1429E |
probably damaging |
Het |
| Trim67 |
T |
C |
8: 125,521,081 (GRCm39) |
S148P |
possibly damaging |
Het |
| Usp49 |
A |
T |
17: 47,990,617 (GRCm39) |
I348F |
probably damaging |
Het |
| Zfp775 |
A |
G |
6: 48,596,543 (GRCm39) |
K139R |
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 |
|
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'- CCATAGGGTTGTTTAAACAGGTC -3'
(R):5'- TGCTCAGACCAATCATCTGCAG -3'
Sequencing Primer
(F):5'- TTAACCTGCCTTTCTTGTCTTAGAC -3'
(R):5'- AATCATCTGCAGAATCATAAGGC -3'
|
| Posted On |
2019-02-18 |
Incidental Mutation