Incidental Mutation 'R2328:Wtap'
| ID |
245775 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wtap
|
| Ensembl Gene |
ENSMUSG00000060475 |
| Gene Name |
WT1 associating protein |
| Synonyms |
2810408K05Rik, 9430038B09Rik |
| MMRRC Submission |
040319-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2328 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
13185686-13211430 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 13186425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 374
(R374Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124205
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007007]
[ENSMUST00000159551]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007007
AA Change: R374Q
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000007007
Gene: ENSMUSG00000060475
AA Change: R374Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
69 |
N/A |
INTRINSIC |
|
coiled coil region
|
121 |
148 |
N/A |
INTRINSIC |
|
coiled coil region
|
177 |
248 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
305 |
327 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159551
AA Change: R374Q
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124205
Gene: ENSMUSG00000060475
AA Change: R374Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Wtap
|
1 |
248 |
2.8e-157 |
PFAM |
|
low complexity region
|
278 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
305 |
327 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160654
|
| Meta Mutation Damage Score |
0.0863 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Wilms tumor suppressor gene WT1 appears to play a role in both transcriptional and posttranscriptional regulation of certain cellular genes. This gene encodes a WT1-associating protein, which is a ubiquitously expressed nuclear protein. Like WT1 protein, this protein is localized throughout the nucleoplasm as well as in speckles and partially colocalizes with splicing factors. Alternative splicing of this gene results in several transcript variants encoding three different isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a mutation display lethality during embryogenesis with abnormalities appearing during gastrulation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
T |
A |
4: 144,182,502 (GRCm39) |
Y322F |
probably benign |
Het |
| Abca5 |
T |
C |
11: 110,167,347 (GRCm39) |
T1490A |
probably damaging |
Het |
| Akap1 |
A |
G |
11: 88,735,870 (GRCm39) |
V264A |
possibly damaging |
Het |
| Cggbp1 |
A |
G |
16: 64,676,366 (GRCm39) |
D144G |
probably benign |
Het |
| Cubn |
C |
A |
2: 13,408,891 (GRCm39) |
G1352* |
probably null |
Het |
| Cyfip1 |
T |
A |
7: 55,544,739 (GRCm39) |
M457K |
possibly damaging |
Het |
| Dag1 |
T |
C |
9: 108,086,451 (GRCm39) |
N230S |
probably damaging |
Het |
| Dbh |
T |
C |
2: 27,055,742 (GRCm39) |
V72A |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,850,421 (GRCm39) |
S4218P |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 31,013,718 (GRCm39) |
I3820F |
probably damaging |
Het |
| Erbb3 |
C |
T |
10: 128,419,562 (GRCm39) |
C186Y |
probably damaging |
Het |
| Foxd1 |
T |
C |
13: 98,491,660 (GRCm39) |
I178T |
probably damaging |
Het |
| Gpc5 |
C |
T |
14: 116,025,591 (GRCm39) |
R470W |
probably damaging |
Het |
| Hace1 |
G |
T |
10: 45,525,041 (GRCm39) |
R269L |
probably benign |
Het |
| Inpp5a |
A |
T |
7: 139,058,010 (GRCm39) |
K73* |
probably null |
Het |
| Or10d5j |
A |
G |
9: 39,868,196 (GRCm39) |
F24L |
possibly damaging |
Het |
| Plekhm3 |
CCTGCTGCTGCTGCTGCTGCTGCTGC |
CCTGCTGCTGCTGCTGCTGCTGC |
1: 64,976,940 (GRCm39) |
|
probably benign |
Het |
| Pzp |
T |
C |
6: 128,487,353 (GRCm39) |
I504V |
possibly damaging |
Het |
| Scgb1b19 |
T |
A |
7: 32,987,911 (GRCm39) |
C93S |
probably damaging |
Het |
| Setx |
TGTGG |
T |
2: 29,044,072 (GRCm39) |
|
probably null |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slamf6 |
G |
A |
1: 171,761,818 (GRCm39) |
V80I |
probably benign |
Het |
| Snapc3 |
T |
A |
4: 83,353,514 (GRCm39) |
Y184* |
probably null |
Het |
| Spg21 |
T |
C |
9: 65,394,155 (GRCm39) |
I284T |
possibly damaging |
Het |
| Tas2r123 |
A |
T |
6: 132,824,279 (GRCm39) |
T59S |
probably benign |
Het |
| Trip11 |
T |
G |
12: 101,845,086 (GRCm39) |
*139C |
probably null |
Het |
| Trp53inp1 |
T |
C |
4: 11,164,495 (GRCm39) |
V13A |
probably benign |
Het |
| Ydjc |
A |
G |
16: 16,964,986 (GRCm39) |
E47G |
possibly damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,835,122 (GRCm39) |
D86G |
possibly damaging |
Het |
|
| Other mutations in Wtap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01305:Wtap
|
APN |
17 |
13,186,782 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01867:Wtap
|
APN |
17 |
13,188,342 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02379:Wtap
|
APN |
17 |
13,188,336 (GRCm39) |
missense |
probably benign |
|
|
IGL02437:Wtap
|
APN |
17 |
13,186,620 (GRCm39) |
missense |
probably benign |
|
|
IGL02975:Wtap
|
APN |
17 |
13,202,398 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
ANU22:Wtap
|
UTSW |
17 |
13,186,782 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1457:Wtap
|
UTSW |
17 |
13,200,631 (GRCm39) |
splice site |
probably null |
|
|
R1799:Wtap
|
UTSW |
17 |
13,199,771 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2240:Wtap
|
UTSW |
17 |
13,194,352 (GRCm39) |
nonsense |
probably null |
|
|
R2332:Wtap
|
UTSW |
17 |
13,186,425 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R3426:Wtap
|
UTSW |
17 |
13,186,425 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4382:Wtap
|
UTSW |
17 |
13,194,307 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4703:Wtap
|
UTSW |
17 |
13,199,711 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4879:Wtap
|
UTSW |
17 |
13,188,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4956:Wtap
|
UTSW |
17 |
13,186,423 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5044:Wtap
|
UTSW |
17 |
13,186,525 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6366:Wtap
|
UTSW |
17 |
13,186,945 (GRCm39) |
splice site |
probably null |
|
|
R6813:Wtap
|
UTSW |
17 |
13,186,397 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7324:Wtap
|
UTSW |
17 |
13,199,833 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7443:Wtap
|
UTSW |
17 |
13,199,821 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7810:Wtap
|
UTSW |
17 |
13,199,797 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7939:Wtap
|
UTSW |
17 |
13,200,683 (GRCm39) |
nonsense |
probably null |
|
|
R8787:Wtap
|
UTSW |
17 |
13,186,488 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
T0970:Wtap
|
UTSW |
17 |
13,188,277 (GRCm39) |
unclassified |
probably benign |
|
|
X0067:Wtap
|
UTSW |
17 |
13,204,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCAAAGTGGCAGAGGTATTGAAG -3'
(R):5'- TAAGGCCTCCAACAGCTCAG -3'
Sequencing Primer
(F):5'- AGGAACCAAACAAAACAAAAACAC -3'
(R):5'- CTCCAACAGCTCAGAGGAGAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation