Incidental Mutation 'IGL01411:Wt1'
| ID |
80042 |
| 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 # |
IGL01411
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
104956874-105003959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104963319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 16
(Y16C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111098]
[ENSMUST00000111099]
[ENSMUST00000133470]
[ENSMUST00000143043]
[ENSMUST00000146842]
[ENSMUST00000213301]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111098
AA Change: Y16C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106727
Gene: ENSMUSG00000016458
AA Change: Y16C
| 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 damaging
Transcript: ENSMUST00000111099
AA Change: Y16C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106728
Gene: ENSMUSG00000016458
AA Change: Y16C
| 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 damaging
Transcript: ENSMUST00000133470
AA Change: Y160C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120054
Gene: ENSMUSG00000016458
AA Change: Y160C
| 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 |
unknown
Transcript: ENSMUST00000139585
AA Change: Y90C
|
| SMART Domains |
Protein: ENSMUSP00000123592
Gene: ENSMUSG00000016458
AA Change: Y90C
| 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 damaging
Transcript: ENSMUST00000143043
AA Change: Y228C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117891
Gene: ENSMUSG00000016458
AA Change: Y228C
| 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 |
noncoding transcript
Transcript: ENSMUST00000145107
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146842
AA Change: Y160C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120702
Gene: ENSMUSG00000016458
AA Change: Y160C
| 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 |
probably damaging
Transcript: ENSMUST00000213301
AA Change: Y228C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
G |
A |
19: 31,888,629 (GRCm39) |
E36K |
possibly damaging |
Het |
| Alox8 |
A |
T |
11: 69,079,516 (GRCm39) |
S257R |
probably benign |
Het |
| Apc2 |
T |
C |
10: 80,150,912 (GRCm39) |
S1960P |
probably damaging |
Het |
| Arhgap35 |
T |
C |
7: 16,298,192 (GRCm39) |
N291S |
probably benign |
Het |
| AW551984 |
A |
T |
9: 39,505,087 (GRCm39) |
D468E |
possibly damaging |
Het |
| B3gnt6 |
A |
C |
7: 97,843,730 (GRCm39) |
F77V |
probably damaging |
Het |
| C1qtnf7 |
A |
T |
5: 43,766,403 (GRCm39) |
M1L |
probably benign |
Het |
| Calm3 |
T |
C |
7: 16,651,409 (GRCm39) |
T63A |
probably benign |
Het |
| Ccdc33 |
G |
A |
9: 58,024,919 (GRCm39) |
|
probably benign |
Het |
| Cdh4 |
C |
T |
2: 179,422,196 (GRCm39) |
R107C |
probably damaging |
Het |
| Cdr2l |
A |
G |
11: 115,273,192 (GRCm39) |
E15G |
probably damaging |
Het |
| Chil6 |
A |
G |
3: 106,296,141 (GRCm39) |
W365R |
probably damaging |
Het |
| Ckap5 |
G |
T |
2: 91,431,356 (GRCm39) |
R1525L |
probably benign |
Het |
| Col6a6 |
T |
A |
9: 105,663,157 (GRCm39) |
K127* |
probably null |
Het |
| Dclre1b |
A |
G |
3: 103,710,639 (GRCm39) |
V298A |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,479,837 (GRCm39) |
V2961E |
probably damaging |
Het |
| Fhit |
T |
C |
14: 9,573,483 (GRCm38) |
D126G |
probably benign |
Het |
| Gpc1 |
T |
C |
1: 92,784,736 (GRCm39) |
F303S |
probably damaging |
Het |
| Hsd17b4 |
T |
A |
18: 50,324,881 (GRCm39) |
V698D |
probably damaging |
Het |
| Itpr2 |
C |
T |
6: 146,277,560 (GRCm39) |
|
probably null |
Het |
| Klhl4 |
A |
T |
X: 113,432,091 (GRCm39) |
D168V |
probably damaging |
Het |
| Krt42 |
A |
G |
11: 100,154,167 (GRCm39) |
L405P |
possibly damaging |
Het |
| Lrp1 |
A |
T |
10: 127,417,634 (GRCm39) |
C85* |
probably null |
Het |
| Lrp2 |
A |
G |
2: 69,312,611 (GRCm39) |
L2559P |
probably damaging |
Het |
| Maob |
T |
G |
X: 16,578,808 (GRCm39) |
R448S |
possibly damaging |
Het |
| Mast3 |
A |
G |
8: 71,232,227 (GRCm39) |
V1250A |
possibly damaging |
Het |
| Mfsd4b5 |
C |
T |
10: 39,846,723 (GRCm39) |
V286M |
probably damaging |
Het |
| Mlip |
A |
G |
9: 77,146,699 (GRCm39) |
I198T |
possibly damaging |
Het |
| Mocs3 |
T |
C |
2: 168,073,297 (GRCm39) |
V248A |
probably damaging |
Het |
| Nxf2 |
T |
A |
X: 133,852,861 (GRCm39) |
R367S |
probably benign |
Het |
| Or10j3b |
T |
G |
1: 173,043,695 (GRCm39) |
V159G |
probably benign |
Het |
| Or52z12 |
T |
C |
7: 103,233,324 (GRCm39) |
W32R |
probably damaging |
Het |
| Parva |
T |
C |
7: 112,176,217 (GRCm39) |
|
probably benign |
Het |
| Pot1a |
A |
T |
6: 25,750,143 (GRCm39) |
|
probably benign |
Het |
| Ptpra |
T |
C |
2: 130,386,359 (GRCm39) |
I603T |
probably damaging |
Het |
| Rad9a |
T |
C |
19: 4,251,336 (GRCm39) |
K33E |
probably benign |
Het |
| Rimbp3 |
A |
G |
16: 17,028,958 (GRCm39) |
D794G |
probably damaging |
Het |
| Septin5 |
G |
A |
16: 18,443,680 (GRCm39) |
R90C |
probably damaging |
Het |
| Skint8 |
T |
A |
4: 111,794,103 (GRCm39) |
N164K |
probably damaging |
Het |
| Slc30a3 |
T |
G |
5: 31,247,424 (GRCm39) |
I73L |
probably benign |
Het |
| Stab2 |
A |
T |
10: 86,815,872 (GRCm39) |
|
probably benign |
Het |
| Tnc |
C |
T |
4: 63,918,959 (GRCm39) |
V1155M |
probably damaging |
Het |
| Ttc13 |
T |
G |
8: 125,410,024 (GRCm39) |
Q525P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,550,479 (GRCm39) |
E31601G |
probably damaging |
Het |
| Unc5a |
A |
T |
13: 55,150,741 (GRCm39) |
D577V |
probably damaging |
Het |
| Usp18 |
G |
A |
6: 121,238,380 (GRCm39) |
V176M |
probably benign |
Het |
| Vmn1r184 |
T |
C |
7: 25,966,320 (GRCm39) |
V22A |
probably benign |
Het |
| Vmn1r33 |
T |
A |
6: 66,588,865 (GRCm39) |
I230F |
probably damaging |
Het |
| Vmn1r51 |
A |
G |
6: 90,106,386 (GRCm39) |
I101V |
probably benign |
Het |
| Vmn2r108 |
T |
A |
17: 20,691,282 (GRCm39) |
M414L |
probably benign |
Het |
| Vmn2r87 |
A |
C |
10: 130,308,429 (GRCm39) |
V603G |
probably benign |
Het |
| Wwp2 |
C |
T |
8: 108,232,977 (GRCm39) |
T159I |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,344,427 (GRCm39) |
F2223L |
probably benign |
Het |
| Zan |
T |
A |
5: 137,387,155 (GRCm39) |
H4966L |
unknown |
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 |
|
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 |
|
|
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 |
2013-11-05 |
Incidental Mutation