Incidental Mutation 'IGL00846:Wt1'
| ID |
14875 |
| 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 # |
IGL00846
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
104956874-105003959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 104997302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 413
(R413L)
|
| 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 damaging
Transcript: ENSMUST00000111098
AA Change: R184L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106727
Gene: ENSMUSG00000016458
AA Change: R184L
| 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: R201L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106728
Gene: ENSMUSG00000016458
AA Change: R201L
| 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: R328L
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000120054
Gene: ENSMUSG00000016458
AA Change: R328L
| 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: R258L
|
| SMART Domains |
Protein: ENSMUSP00000123592
Gene: ENSMUSG00000016458
AA Change: R258L
| 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: R413L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117891
Gene: ENSMUSG00000016458
AA Change: R413L
| 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 damaging
Transcript: ENSMUST00000146842
AA Change: R302L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120702
Gene: ENSMUSG00000016458
AA Change: R302L
| 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 damaging
Transcript: ENSMUST00000213301
AA Change: R413L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn2l |
T |
C |
7: 126,098,350 (GRCm39) |
T181A |
probably damaging |
Het |
| Caskin1 |
T |
C |
17: 24,718,323 (GRCm39) |
|
probably null |
Het |
| Cass4 |
A |
C |
2: 172,271,643 (GRCm39) |
|
probably benign |
Het |
| Cdh26 |
A |
T |
2: 178,123,417 (GRCm39) |
Y672F |
possibly damaging |
Het |
| Cep290 |
T |
A |
10: 100,376,195 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
T |
C |
6: 47,169,972 (GRCm39) |
L1146P |
probably benign |
Het |
| Cntnap5b |
T |
G |
1: 100,091,948 (GRCm39) |
C230G |
probably damaging |
Het |
| Ctnnd1 |
C |
T |
2: 84,452,354 (GRCm39) |
|
probably null |
Het |
| Cux1 |
A |
G |
5: 136,355,650 (GRCm39) |
I324T |
probably damaging |
Het |
| Dnajb4 |
T |
C |
3: 151,899,118 (GRCm39) |
N36S |
probably damaging |
Het |
| Fancc |
T |
A |
13: 63,488,270 (GRCm39) |
T237S |
possibly damaging |
Het |
| Fip1l1 |
A |
G |
5: 74,747,726 (GRCm39) |
|
probably benign |
Het |
| Hemgn |
G |
T |
4: 46,396,171 (GRCm39) |
T355K |
possibly damaging |
Het |
| Hivep1 |
T |
A |
13: 42,321,092 (GRCm39) |
L42* |
probably null |
Het |
| Hps3 |
A |
G |
3: 20,079,956 (GRCm39) |
W234R |
probably benign |
Het |
| Kit |
A |
T |
5: 75,801,471 (GRCm39) |
N586I |
probably damaging |
Het |
| Mettl14 |
T |
A |
3: 123,165,012 (GRCm39) |
K109N |
probably damaging |
Het |
| Mmab |
A |
T |
5: 114,571,378 (GRCm39) |
M166K |
probably benign |
Het |
| Naprt |
T |
A |
15: 75,763,637 (GRCm39) |
Y395F |
probably benign |
Het |
| Nostrin |
C |
T |
2: 69,015,899 (GRCm39) |
|
probably benign |
Het |
| Pgap1 |
G |
T |
1: 54,531,180 (GRCm39) |
|
probably benign |
Het |
| Plpp5 |
A |
T |
8: 26,210,585 (GRCm39) |
I59F |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,089,109 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
A |
T |
11: 106,218,944 (GRCm39) |
V958D |
probably benign |
Het |
| Serpinb3b |
T |
A |
1: 107,083,579 (GRCm39) |
N200I |
probably damaging |
Het |
| Slc22a15 |
T |
A |
3: 101,768,136 (GRCm39) |
Q512L |
probably benign |
Het |
| Tmf1 |
A |
T |
6: 97,150,277 (GRCm39) |
Y477N |
possibly damaging |
Het |
| Trim10 |
T |
A |
17: 37,182,584 (GRCm39) |
L150H |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,572,797 (GRCm39) |
E723G |
possibly damaging |
Het |
| Usp25 |
A |
G |
16: 76,859,293 (GRCm39) |
S264G |
probably damaging |
Het |
| Vopp1 |
A |
G |
6: 57,731,465 (GRCm39) |
|
probably benign |
Het |
| Wapl |
G |
T |
14: 34,414,701 (GRCm39) |
|
probably benign |
Het |
| Wbp1 |
A |
G |
6: 83,097,022 (GRCm39) |
F93S |
probably damaging |
Het |
| Zfp345 |
C |
T |
2: 150,314,538 (GRCm39) |
G333D |
possibly damaging |
Het |
| Zmynd11 |
C |
A |
13: 9,770,808 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
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 |
2012-12-06 |
Incidental Mutation