Incidental Mutation 'IGL03063:Wt1'
ID |
409564 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Wt1
|
Ensembl Gene |
ENSMUSG00000016458 |
Gene Name |
WT1 transcription factor |
Synonyms |
D630046I19Rik, Wt-1, Wilms tumor 1 homolog |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03063
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
104956874-105003959 bp(+) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
G to A
at 105000368 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 null
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 null
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 null
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 null
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 null
Transcript: ENSMUST00000213301
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
C |
T |
7: 45,665,856 (GRCm39) |
V255I |
probably benign |
Het |
Arfgef2 |
T |
C |
2: 166,701,702 (GRCm39) |
|
probably benign |
Het |
Bpifb2 |
A |
T |
2: 153,731,044 (GRCm39) |
Q205L |
probably damaging |
Het |
Ccdc30 |
C |
T |
4: 119,206,964 (GRCm39) |
R386Q |
possibly damaging |
Het |
Cdk5rap2 |
T |
A |
4: 70,273,114 (GRCm39) |
|
probably null |
Het |
Comtd1 |
A |
G |
14: 21,897,735 (GRCm39) |
|
probably null |
Het |
Dao |
T |
C |
5: 114,159,076 (GRCm39) |
C261R |
probably damaging |
Het |
Dner |
A |
G |
1: 84,563,059 (GRCm39) |
V187A |
possibly damaging |
Het |
Dsg3 |
T |
C |
18: 20,666,425 (GRCm39) |
|
probably benign |
Het |
Eif3j2 |
A |
G |
18: 43,610,444 (GRCm39) |
L123P |
possibly damaging |
Het |
Esf1 |
G |
A |
2: 139,996,706 (GRCm39) |
|
probably benign |
Het |
Exo5 |
G |
A |
4: 120,778,830 (GRCm39) |
T345I |
possibly damaging |
Het |
Fancl |
A |
T |
11: 26,337,299 (GRCm39) |
I29F |
probably damaging |
Het |
Gadl1 |
C |
T |
9: 115,795,335 (GRCm39) |
H313Y |
probably damaging |
Het |
Gm17190 |
G |
A |
13: 96,219,270 (GRCm39) |
|
probably benign |
Het |
Gtf3c1 |
G |
T |
7: 125,245,675 (GRCm39) |
T1580N |
possibly damaging |
Het |
Gtf3c6 |
T |
A |
10: 40,127,155 (GRCm39) |
I66L |
probably benign |
Het |
Hhla1 |
A |
G |
15: 65,813,639 (GRCm39) |
I231T |
probably damaging |
Het |
Hk2 |
A |
G |
6: 82,716,630 (GRCm39) |
Y273H |
probably damaging |
Het |
Hk2 |
A |
G |
6: 82,726,213 (GRCm39) |
I83T |
probably benign |
Het |
Ifit1 |
T |
C |
19: 34,625,404 (GRCm39) |
V180A |
possibly damaging |
Het |
Igkv9-129 |
A |
T |
6: 67,817,172 (GRCm39) |
D92V |
probably damaging |
Het |
Lrrc1 |
A |
G |
9: 77,406,551 (GRCm39) |
F36S |
probably damaging |
Het |
Man1b1 |
A |
G |
2: 25,224,416 (GRCm39) |
E102G |
possibly damaging |
Het |
Myh8 |
A |
G |
11: 67,179,031 (GRCm39) |
S475G |
probably benign |
Het |
Or52s1 |
T |
A |
7: 102,861,841 (GRCm39) |
V247D |
probably damaging |
Het |
Otud4 |
T |
A |
8: 80,390,419 (GRCm39) |
M343K |
probably benign |
Het |
Peg10 |
A |
T |
6: 4,756,647 (GRCm39) |
|
probably benign |
Het |
Plet1 |
T |
A |
9: 50,415,722 (GRCm39) |
N197K |
probably benign |
Het |
Ppp1r12a |
C |
T |
10: 108,097,115 (GRCm39) |
R243C |
probably damaging |
Het |
Serpinb10 |
A |
T |
1: 107,469,957 (GRCm39) |
K146N |
possibly damaging |
Het |
Sis |
A |
G |
3: 72,835,630 (GRCm39) |
F911L |
probably benign |
Het |
Spon1 |
G |
A |
7: 113,632,260 (GRCm39) |
V528M |
possibly damaging |
Het |
Tdrd9 |
T |
C |
12: 112,010,733 (GRCm39) |
V1100A |
probably benign |
Het |
Tmtc3 |
T |
C |
10: 100,283,468 (GRCm39) |
M696V |
probably benign |
Het |
Triobp |
A |
G |
15: 78,875,084 (GRCm39) |
E122G |
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 |
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 |
|
R3711: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 |
|
Posted On |
2016-08-02 |