Incidental Mutation 'R5984:Wt1'
| ID |
481546 |
| 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 |
043251-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5984 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
104956874-105003959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105002597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 488
(S488G)
|
| 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
AA Change: S259G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000106727
Gene: ENSMUSG00000016458
AA Change: S259G
| 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
AA Change: S273G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000106728
Gene: ENSMUSG00000016458
AA Change: S273G
| 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
AA Change: S403G
PolyPhen 2
Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000120054
Gene: ENSMUSG00000016458
AA Change: S403G
| 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: S330G
|
| SMART Domains |
Protein: ENSMUSP00000123592
Gene: ENSMUSG00000016458
AA Change: S330G
| 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
AA Change: S488G
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000117891
Gene: ENSMUSG00000016458
AA Change: S488G
| 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
AA Change: S377G
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000120702
Gene: ENSMUSG00000016458
AA Change: S377G
| 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
AA Change: S488G
PolyPhen 2
Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
T |
A |
17: 48,439,165 (GRCm39) |
L130F |
probably benign |
Het |
| Alox12 |
T |
C |
11: 70,137,881 (GRCm39) |
T420A |
possibly damaging |
Het |
| Ano5 |
T |
C |
7: 51,243,412 (GRCm39) |
I795T |
probably damaging |
Het |
| Atpsckmt |
C |
T |
15: 31,617,065 (GRCm39) |
R99* |
probably null |
Het |
| Crlf2 |
G |
A |
5: 109,703,469 (GRCm39) |
P92L |
probably damaging |
Het |
| Dgat1 |
T |
C |
15: 76,386,458 (GRCm39) |
Y492C |
probably damaging |
Het |
| Dna2 |
G |
C |
10: 62,798,285 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,211,344 (GRCm39) |
H982R |
probably benign |
Het |
| F13b |
A |
G |
1: 139,435,950 (GRCm39) |
D252G |
probably damaging |
Het |
| Fgfr3 |
A |
T |
5: 33,887,049 (GRCm39) |
E151V |
probably damaging |
Het |
| Gabpb1 |
T |
C |
2: 126,488,573 (GRCm39) |
T264A |
probably damaging |
Het |
| Gemin5 |
T |
C |
11: 58,047,587 (GRCm39) |
E329G |
probably damaging |
Het |
| Git1 |
C |
T |
11: 77,397,309 (GRCm39) |
P721S |
possibly damaging |
Het |
| Hcn3 |
T |
C |
3: 89,055,570 (GRCm39) |
E559G |
probably benign |
Het |
| Invs |
G |
A |
4: 48,421,674 (GRCm39) |
A769T |
probably benign |
Het |
| Ism2 |
T |
A |
12: 87,333,809 (GRCm39) |
T79S |
possibly damaging |
Het |
| Lamb1 |
G |
A |
12: 31,377,773 (GRCm39) |
E1673K |
possibly damaging |
Het |
| Lmtk2 |
T |
A |
5: 144,111,656 (GRCm39) |
L792H |
probably benign |
Het |
| Lnpk |
A |
T |
2: 74,352,543 (GRCm39) |
S380T |
probably benign |
Het |
| Mff |
A |
G |
1: 82,708,848 (GRCm39) |
I66V |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,623,284 (GRCm39) |
K2045E |
probably benign |
Het |
| Mycbp2 |
C |
A |
14: 103,364,120 (GRCm39) |
W4393L |
probably damaging |
Het |
| Or1e31 |
T |
A |
11: 73,690,407 (GRCm39) |
M59L |
possibly damaging |
Het |
| Or8k32 |
A |
T |
2: 86,368,512 (GRCm39) |
V249E |
probably damaging |
Het |
| Pcdha5 |
A |
G |
18: 37,094,733 (GRCm39) |
D414G |
probably damaging |
Het |
| Pknox2 |
T |
C |
9: 36,835,022 (GRCm39) |
E149G |
probably damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,665,666 (GRCm39) |
R240G |
probably benign |
Het |
| Polr3d |
A |
T |
14: 70,676,927 (GRCm39) |
F389Y |
possibly damaging |
Het |
| Prex1 |
T |
G |
2: 166,427,664 (GRCm39) |
D826A |
probably damaging |
Het |
| Prss50 |
T |
A |
9: 110,691,454 (GRCm39) |
S253T |
probably damaging |
Het |
| Ptgfrn |
T |
C |
3: 100,957,459 (GRCm39) |
D705G |
probably damaging |
Het |
| Ptpn21 |
T |
A |
12: 98,655,335 (GRCm39) |
N544I |
probably damaging |
Het |
| Rbm5 |
G |
A |
9: 107,622,141 (GRCm39) |
P611L |
probably damaging |
Het |
| Rev3l |
A |
T |
10: 39,618,685 (GRCm39) |
|
probably benign |
Het |
| Rnf139 |
T |
C |
15: 58,770,595 (GRCm39) |
Y207H |
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,613,082 (GRCm39) |
R836H |
probably benign |
Het |
| Slc30a1 |
A |
G |
1: 191,639,212 (GRCm39) |
T32A |
probably damaging |
Het |
| Smad4 |
T |
A |
18: 73,810,982 (GRCm39) |
M1L |
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,759,561 (GRCm39) |
D190G |
possibly damaging |
Het |
| Sptbn1 |
C |
T |
11: 30,068,464 (GRCm39) |
D1677N |
probably damaging |
Het |
| Tmem132e |
G |
A |
11: 82,335,923 (GRCm39) |
D1002N |
probably damaging |
Het |
| Usp8 |
C |
A |
2: 126,584,401 (GRCm39) |
Q526K |
probably benign |
Het |
| Zbtb43 |
A |
G |
2: 33,344,272 (GRCm39) |
S318P |
probably benign |
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 |
|
|
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 |
|
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'- AAGGCATTGCTAATCCCGGG -3'
(R):5'- CCACAGTCGTGTCCTTTGAAAG -3'
Sequencing Primer
(F):5'- ATTGCTAATCCCGGGCTGCC -3'
(R):5'- CCTTTGAAAGGTGAGTGGGAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation