Incidental Mutation 'R4382:Wtap'
| ID |
325393 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wtap
|
| Ensembl Gene |
ENSMUSG00000060475 |
| Gene Name |
WT1 associating protein |
| Synonyms |
2810408K05Rik, 9430038B09Rik |
| MMRRC Submission |
041679-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4382 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
13185686-13211430 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13194307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 87
(S87P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007007]
[ENSMUST00000159104]
[ENSMUST00000159551]
[ENSMUST00000159986]
[ENSMUST00000160781]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007007
AA Change: S110P
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000007007
Gene: ENSMUSG00000060475
AA Change: S110P
| 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 |
probably damaging
Transcript: ENSMUST00000159104
AA Change: S87P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125337
Gene: ENSMUSG00000060475
AA Change: S87P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
46 |
N/A |
INTRINSIC |
|
coiled coil region
|
98 |
125 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159551
AA Change: S110P
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124205
Gene: ENSMUSG00000060475
AA Change: S110P
| 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 |
possibly damaging
Transcript: ENSMUST00000159986
AA Change: S110P
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123961
Gene: ENSMUSG00000060475
AA Change: S110P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
69 |
N/A |
INTRINSIC |
|
coiled coil region
|
121 |
148 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160781
AA Change: S110P
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124138
Gene: ENSMUSG00000060475
AA Change: S110P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
69 |
N/A |
INTRINSIC |
|
coiled coil region
|
121 |
148 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm2 |
T |
A |
4: 144,281,596 (GRCm39) |
T399S |
possibly damaging |
Het |
| Acp2 |
T |
C |
2: 91,038,454 (GRCm39) |
S309P |
possibly damaging |
Het |
| Adam23 |
T |
C |
1: 63,605,787 (GRCm39) |
Y624H |
probably damaging |
Het |
| B4galnt4 |
T |
C |
7: 140,650,449 (GRCm39) |
V772A |
probably damaging |
Het |
| Boc |
A |
T |
16: 44,311,545 (GRCm39) |
L726H |
probably damaging |
Het |
| Calr3 |
T |
A |
8: 73,182,008 (GRCm39) |
D120V |
probably damaging |
Het |
| Ccdc92b |
G |
A |
11: 74,520,842 (GRCm39) |
S48N |
probably damaging |
Het |
| Ceacam12 |
C |
T |
7: 17,799,959 (GRCm39) |
|
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,466,483 (GRCm39) |
M1L |
probably benign |
Het |
| Cnot1 |
T |
C |
8: 96,496,407 (GRCm39) |
T300A |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,538,023 (GRCm39) |
Y2514* |
probably null |
Het |
| Col6a6 |
G |
A |
9: 105,660,889 (GRCm39) |
R407W |
probably damaging |
Het |
| Csnk1g1 |
T |
C |
9: 65,927,190 (GRCm39) |
V119A |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,459,288 (GRCm39) |
I1273T |
probably benign |
Het |
| Ddx60 |
G |
A |
8: 62,402,012 (GRCm39) |
|
probably null |
Het |
| Dnajb12 |
A |
T |
10: 59,733,321 (GRCm39) |
K372N |
probably benign |
Het |
| Fhl5 |
A |
C |
4: 25,200,118 (GRCm39) |
C239G |
probably benign |
Het |
| Gad2 |
G |
A |
2: 22,575,422 (GRCm39) |
V509I |
probably benign |
Het |
| Glrb |
T |
A |
3: 80,786,946 (GRCm39) |
R72S |
probably damaging |
Het |
| Gm6811 |
T |
C |
17: 21,314,865 (GRCm39) |
|
noncoding transcript |
Het |
| Hecw1 |
C |
T |
13: 14,490,749 (GRCm39) |
D748N |
probably damaging |
Het |
| Hk2 |
A |
T |
6: 82,712,322 (GRCm39) |
L542Q |
probably null |
Het |
| Iglc1 |
A |
T |
16: 18,880,508 (GRCm39) |
C104* |
probably null |
Het |
| Kel |
T |
A |
6: 41,675,334 (GRCm39) |
T306S |
probably benign |
Het |
| Lpo |
T |
C |
11: 87,713,027 (GRCm39) |
D25G |
probably benign |
Het |
| Mboat7 |
T |
A |
7: 3,691,545 (GRCm39) |
Y109F |
possibly damaging |
Het |
| Myh15 |
T |
G |
16: 48,963,306 (GRCm39) |
N1082K |
probably benign |
Het |
| Nagk |
A |
G |
6: 83,774,993 (GRCm39) |
E90G |
probably benign |
Het |
| Nagpa |
A |
T |
16: 5,021,819 (GRCm39) |
F10I |
possibly damaging |
Het |
| Or9a4 |
T |
A |
6: 40,548,998 (GRCm39) |
L226H |
probably damaging |
Het |
| Otog |
T |
A |
7: 45,939,122 (GRCm39) |
C2051S |
probably damaging |
Het |
| Ptpn6 |
A |
G |
6: 124,704,361 (GRCm39) |
V315A |
possibly damaging |
Het |
| Rbp3 |
G |
C |
14: 33,677,253 (GRCm39) |
E400D |
probably benign |
Het |
| Rnf41 |
T |
C |
10: 128,272,392 (GRCm39) |
S140P |
probably benign |
Het |
| Ros1 |
C |
T |
10: 51,997,055 (GRCm39) |
V1206I |
possibly damaging |
Het |
| Scgb2b12 |
T |
A |
7: 32,024,870 (GRCm39) |
E112D |
probably benign |
Het |
| Serpinb3b |
T |
A |
1: 107,083,273 (GRCm39) |
M210L |
probably damaging |
Het |
| Sipa1l1 |
A |
G |
12: 82,493,596 (GRCm39) |
R1672G |
possibly damaging |
Het |
| Smc5 |
A |
G |
19: 23,246,210 (GRCm39) |
S70P |
probably benign |
Het |
| Spen |
C |
T |
4: 141,200,450 (GRCm39) |
G2703S |
possibly damaging |
Het |
| Stard9 |
C |
G |
2: 120,464,703 (GRCm39) |
A56G |
probably damaging |
Het |
| Zzef1 |
T |
G |
11: 72,765,938 (GRCm39) |
S1488R |
probably benign |
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 |
|
|
R2328:Wtap
|
UTSW |
17 |
13,186,425 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
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 |
|
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'- AAACGAGTACTTGGCTGTCCC -3'
(R):5'- CTACACCCTTAACTTTAGGGAGAC -3'
Sequencing Primer
(F):5'- ACAGCTTTCTCGAGGTGGGAC -3'
(R):5'- ACTTAATATCAAAGGGGTACAGACC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation