Incidental Mutation 'R3711:Wt1'
| ID |
259593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wt1
|
| Ensembl Gene |
ENSMUSG00000016458 |
| Gene Name |
WT1 transcription factor |
| Synonyms |
D630046I19Rik, Wt-1, Wilms tumor 1 homolog |
| MMRRC Submission |
040704-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3711 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
104956874-105003959 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 104993773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111098]
[ENSMUST00000111099]
[ENSMUST00000133470]
[ENSMUST00000143043]
[ENSMUST00000146842]
[ENSMUST00000213301]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111098
|
| SMART Domains |
Protein: ENSMUSP00000106727
Gene: ENSMUSG00000016458
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WT1
|
1 |
160 |
5e-93 |
PFAM |
|
ZnF_C2H2
|
162 |
186 |
1.33e-1 |
SMART |
|
ZnF_C2H2
|
192 |
216 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
222 |
244 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
253 |
277 |
1.89e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111099
|
| SMART Domains |
Protein: ENSMUSP00000106728
Gene: ENSMUSG00000016458
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WT1
|
1 |
119 |
6.2e-63 |
PFAM |
|
Pfam:WT1
|
113 |
177 |
4.6e-27 |
PFAM |
|
ZnF_C2H2
|
179 |
203 |
1.33e-1 |
SMART |
|
ZnF_C2H2
|
209 |
233 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
239 |
261 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
267 |
291 |
1.89e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133470
|
| SMART Domains |
Protein: ENSMUSP00000120054
Gene: ENSMUSG00000016458
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WT1
|
1 |
304 |
3.2e-165 |
PFAM |
|
ZnF_C2H2
|
306 |
330 |
1.33e-1 |
SMART |
|
ZnF_C2H2
|
336 |
360 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
366 |
388 |
1.92e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139585
|
| SMART Domains |
Protein: ENSMUSP00000123592
Gene: ENSMUSG00000016458
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WT1
|
1 |
235 |
9.8e-135 |
PFAM |
|
ZnF_C2H2
|
237 |
261 |
1.33e-1 |
SMART |
|
ZnF_C2H2
|
267 |
291 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
297 |
319 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
325 |
349 |
1.89e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143043
|
| SMART Domains |
Protein: ENSMUSP00000117891
Gene: ENSMUSG00000016458
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WT1
|
69 |
389 |
1e-149 |
PFAM |
|
ZnF_C2H2
|
391 |
415 |
1.33e-1 |
SMART |
|
ZnF_C2H2
|
421 |
445 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
451 |
473 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
482 |
506 |
1.89e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146842
|
| SMART Domains |
Protein: ENSMUSP00000120702
Gene: ENSMUSG00000016458
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WT1
|
1 |
225 |
5.1e-117 |
PFAM |
|
Pfam:WT1
|
222 |
278 |
2.1e-26 |
PFAM |
|
ZnF_C2H2
|
280 |
304 |
1.33e-1 |
SMART |
|
ZnF_C2H2
|
310 |
334 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
340 |
362 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
371 |
395 |
1.89e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153944
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213301
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
98% (51/52) |
| MGI Phenotype |
FUNCTION: This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It plays an essential role in the normal development of the urogenital system, and the orthologous human gene is mutated in a small subset of patients with Wilm's tumors. Alternative splicing has been noted for this gene, however, the full-length nature of these variants is not known. The mRNA for this gene has been shown to initiate translation from non-AUG (CUG) and AUG translation start sites, resulting in different isoforms. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous mutants fail to develop normal kidneys or gonads, and on some genetic backgrounds, a spleen. Mutants have abnormalities of the heart, mesothelium and lungs and die between embryonic day 13.5 and birth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
G |
11: 109,837,081 (GRCm39) |
V1138A |
possibly damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,567,594 (GRCm39) |
I5193K |
probably benign |
Het |
| Adnp |
A |
T |
2: 168,026,743 (GRCm39) |
I184N |
probably damaging |
Het |
| Ahnak |
T |
G |
19: 8,985,262 (GRCm39) |
V2182G |
probably benign |
Het |
| Aif1l |
T |
A |
2: 31,859,763 (GRCm39) |
F94L |
probably damaging |
Het |
| Aspm |
G |
A |
1: 139,385,838 (GRCm39) |
G494D |
probably benign |
Het |
| Atic |
T |
A |
1: 71,617,738 (GRCm39) |
S563T |
probably benign |
Het |
| Bahcc1 |
A |
T |
11: 120,165,923 (GRCm39) |
I1060F |
probably benign |
Het |
| Cd27 |
A |
G |
6: 125,210,281 (GRCm39) |
Y189H |
probably damaging |
Het |
| Dnm2 |
C |
A |
9: 21,417,669 (GRCm39) |
|
probably benign |
Het |
| Exo1 |
A |
G |
1: 175,721,395 (GRCm39) |
T345A |
probably benign |
Het |
| Fbf1 |
T |
C |
11: 116,052,299 (GRCm39) |
H53R |
possibly damaging |
Het |
| Fbf1 |
A |
G |
11: 116,054,179 (GRCm39) |
I29T |
probably damaging |
Het |
| Gm14399 |
G |
A |
2: 174,973,303 (GRCm39) |
R151* |
probably null |
Het |
| Gsdma |
T |
A |
11: 98,557,045 (GRCm39) |
Y53* |
probably null |
Het |
| Hid1 |
A |
T |
11: 115,249,601 (GRCm39) |
L208Q |
probably damaging |
Het |
| Kif4-ps |
A |
G |
12: 101,112,312 (GRCm39) |
E147G |
probably damaging |
Het |
| Kif7 |
A |
T |
7: 79,360,640 (GRCm39) |
V245D |
probably benign |
Het |
| Klhdc4 |
A |
G |
8: 122,524,794 (GRCm39) |
V378A |
probably benign |
Het |
| Lrfn2 |
A |
G |
17: 49,378,188 (GRCm39) |
E423G |
possibly damaging |
Het |
| Lrp4 |
T |
A |
2: 91,332,299 (GRCm39) |
N1665K |
probably benign |
Het |
| Mast3 |
C |
A |
8: 71,232,251 (GRCm39) |
R1242L |
probably benign |
Het |
| Mon1b |
T |
C |
8: 114,365,779 (GRCm39) |
M369T |
possibly damaging |
Het |
| Mta3 |
A |
G |
17: 84,070,417 (GRCm39) |
I193V |
probably damaging |
Het |
| Narf |
G |
T |
11: 121,137,764 (GRCm39) |
E224* |
probably null |
Het |
| Nedd4l |
G |
A |
18: 65,342,790 (GRCm39) |
V909I |
possibly damaging |
Het |
| Nmnat3 |
T |
A |
9: 98,292,276 (GRCm39) |
Y108N |
probably damaging |
Het |
| Npr2 |
A |
T |
4: 43,643,378 (GRCm39) |
Y534F |
probably benign |
Het |
| Obox5 |
A |
T |
7: 15,492,713 (GRCm39) |
M223L |
probably benign |
Het |
| Optc |
A |
T |
1: 133,832,819 (GRCm39) |
S94T |
probably benign |
Het |
| Or10al5 |
T |
A |
17: 38,063,271 (GRCm39) |
C175* |
probably null |
Het |
| Or1l4 |
A |
G |
2: 37,091,285 (GRCm39) |
T11A |
probably benign |
Het |
| Or5d47 |
A |
T |
2: 87,804,066 (GRCm39) |
N314K |
probably benign |
Het |
| Or6c206 |
A |
T |
10: 129,097,093 (GRCm39) |
K88* |
probably null |
Het |
| Or8w1 |
T |
C |
2: 87,466,025 (GRCm39) |
D22G |
probably benign |
Het |
| Rbm27 |
T |
C |
18: 42,425,177 (GRCm39) |
|
probably benign |
Het |
| Spopl |
C |
T |
2: 23,427,392 (GRCm39) |
R221Q |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,702,572 (GRCm39) |
L423P |
probably damaging |
Het |
| Sun5 |
A |
G |
2: 153,709,468 (GRCm39) |
V74A |
probably benign |
Het |
| Tanc2 |
A |
G |
11: 105,689,516 (GRCm39) |
Y226C |
probably damaging |
Het |
| Tlr6 |
T |
C |
5: 65,111,152 (GRCm39) |
D585G |
possibly damaging |
Het |
| Tmt1a3 |
A |
T |
15: 100,232,961 (GRCm39) |
M51L |
probably benign |
Het |
| Tnrc6c |
A |
G |
11: 117,613,950 (GRCm39) |
T863A |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,542,489 (GRCm39) |
G3352S |
probably benign |
Het |
| Ythdc2 |
C |
T |
18: 44,966,240 (GRCm39) |
L159F |
probably damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,859,251 (GRCm39) |
N1094S |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,347,830 (GRCm39) |
S2070P |
possibly damaging |
Het |
| Zfp648 |
T |
A |
1: 154,080,304 (GRCm39) |
S154R |
probably benign |
Het |
| Zfp748 |
A |
G |
13: 67,688,915 (GRCm39) |
C782R |
probably damaging |
Het |
| Zfp992 |
C |
T |
4: 146,551,976 (GRCm39) |
H566Y |
probably damaging |
Het |
|
| Other mutations in Wt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00434:Wt1
|
APN |
2 |
104,974,486 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL00846:Wt1
|
APN |
2 |
104,997,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01411:Wt1
|
APN |
2 |
104,963,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02936:Wt1
|
APN |
2 |
104,999,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03063:Wt1
|
APN |
2 |
105,000,368 (GRCm39) |
splice site |
probably null |
|
|
R0127:Wt1
|
UTSW |
2 |
104,963,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Wt1
|
UTSW |
2 |
104,997,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Wt1
|
UTSW |
2 |
104,997,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2061:Wt1
|
UTSW |
2 |
104,961,502 (GRCm39) |
splice site |
probably null |
|
|
R2284:Wt1
|
UTSW |
2 |
105,002,666 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2358:Wt1
|
UTSW |
2 |
104,993,773 (GRCm39) |
splice site |
probably benign |
|
|
R5096:Wt1
|
UTSW |
2 |
104,973,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5590:Wt1
|
UTSW |
2 |
104,957,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5984:Wt1
|
UTSW |
2 |
105,002,597 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6821:Wt1
|
UTSW |
2 |
105,002,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7128:Wt1
|
UTSW |
2 |
104,957,670 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7698:Wt1
|
UTSW |
2 |
104,957,161 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7913:Wt1
|
UTSW |
2 |
104,997,205 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8005:Wt1
|
UTSW |
2 |
104,957,789 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8944:Wt1
|
UTSW |
2 |
104,957,584 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9032:Wt1
|
UTSW |
2 |
104,957,160 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9569:Wt1
|
UTSW |
2 |
104,993,711 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1176:Wt1
|
UTSW |
2 |
104,957,452 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCATGGAGTGAGGTAAGACTC -3'
(R):5'- ATTCAAGTGCAGATGACCCC -3'
Sequencing Primer
(F):5'- GACTCTGTATTTCCAAAAGGTGACC -3'
(R):5'- GAACTGTACCACTCACCAGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation