Incidental Mutation 'R7913:Wt1'
| ID |
610646 |
| 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 |
045961-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7913 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
104956874-105003959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 104997205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 381
(S381A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111098]
[ENSMUST00000111099]
[ENSMUST00000133470]
[ENSMUST00000143043]
[ENSMUST00000146842]
[ENSMUST00000213301]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111098
AA Change: S152A
PolyPhen 2
Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000106727
Gene: ENSMUSG00000016458
AA Change: S152A
| 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 |
possibly damaging
Transcript: ENSMUST00000111099
AA Change: S169A
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106728
Gene: ENSMUSG00000016458
AA Change: S169A
| 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: S296A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120054
Gene: ENSMUSG00000016458
AA Change: S296A
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000123592
Gene: ENSMUSG00000016458
AA Change: S226A
| 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: S381A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117891
Gene: ENSMUSG00000016458
AA Change: S381A
| 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 |
possibly damaging
Transcript: ENSMUST00000146842
AA Change: S270A
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000120702
Gene: ENSMUSG00000016458
AA Change: S270A
| 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 |
possibly damaging
Transcript: ENSMUST00000213301
AA Change: S381A
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (65/65) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apaf1 |
A |
G |
10: 90,896,133 (GRCm39) |
V324A |
probably damaging |
Het |
| Aqp8 |
T |
A |
7: 123,063,495 (GRCm39) |
I115N |
possibly damaging |
Het |
| Atrn |
G |
A |
2: 130,812,131 (GRCm39) |
C692Y |
probably damaging |
Het |
| Card10 |
A |
T |
15: 78,665,303 (GRCm39) |
S717T |
possibly damaging |
Het |
| Cep78 |
T |
C |
19: 15,947,941 (GRCm39) |
S408G |
probably benign |
Het |
| Col24a1 |
G |
T |
3: 145,137,621 (GRCm39) |
G895* |
probably null |
Het |
| Cs |
A |
T |
10: 128,186,310 (GRCm39) |
K34N |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,408,435 (GRCm39) |
E1799G |
possibly damaging |
Het |
| Dlg5 |
A |
T |
14: 24,187,192 (GRCm39) |
|
probably null |
Het |
| Dpy19l4 |
A |
T |
4: 11,265,859 (GRCm39) |
Y696* |
probably null |
Het |
| Dync1h1 |
A |
T |
12: 110,595,168 (GRCm39) |
N1360I |
probably benign |
Het |
| Fgd2 |
G |
T |
17: 29,593,019 (GRCm39) |
R423L |
probably damaging |
Het |
| Fmo4 |
T |
C |
1: 162,621,741 (GRCm39) |
D490G |
possibly damaging |
Het |
| Gm5113 |
A |
T |
7: 29,877,648 (GRCm39) |
|
probably benign |
Het |
| Grid1 |
T |
A |
14: 35,291,654 (GRCm39) |
W854R |
probably damaging |
Het |
| H2-M1 |
T |
C |
17: 36,981,129 (GRCm39) |
|
probably null |
Het |
| Hivep1 |
T |
A |
13: 42,309,842 (GRCm39) |
M694K |
probably benign |
Het |
| Hsd17b6 |
T |
C |
10: 127,833,645 (GRCm39) |
T79A |
possibly damaging |
Het |
| Hspa4 |
A |
C |
11: 53,153,134 (GRCm39) |
V761G |
probably benign |
Het |
| Ifi203 |
T |
C |
1: 173,754,523 (GRCm39) |
Y736C |
probably damaging |
Het |
| Mettl9 |
T |
A |
7: 120,675,524 (GRCm39) |
L308Q |
probably damaging |
Het |
| Miox |
A |
G |
15: 89,220,785 (GRCm39) |
D230G |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,959,522 (GRCm39) |
C319* |
probably null |
Het |
| Ncs1 |
C |
A |
2: 31,177,296 (GRCm39) |
|
probably null |
Het |
| Nell1 |
T |
A |
7: 49,929,270 (GRCm39) |
H392Q |
possibly damaging |
Het |
| Nlrp1b |
C |
A |
11: 71,108,537 (GRCm39) |
E321D |
possibly damaging |
Het |
| Nlrp9b |
A |
T |
7: 19,779,725 (GRCm39) |
H796L |
probably benign |
Het |
| Nudt16l1 |
C |
A |
16: 4,757,245 (GRCm39) |
Q53K |
possibly damaging |
Het |
| Nyap1 |
A |
G |
5: 137,733,231 (GRCm39) |
S601P |
probably damaging |
Het |
| Odf2l |
C |
T |
3: 144,859,244 (GRCm39) |
Q634* |
probably null |
Het |
| Or10al2 |
A |
T |
17: 37,982,999 (GRCm39) |
E28D |
probably benign |
Het |
| Or12e14 |
A |
G |
2: 87,677,037 (GRCm39) |
I141V |
probably benign |
Het |
| Or1e22 |
A |
G |
11: 73,377,224 (GRCm39) |
V142A |
probably benign |
Het |
| Or5ac23 |
C |
T |
16: 59,149,606 (GRCm39) |
D89N |
possibly damaging |
Het |
| Or5b120 |
T |
A |
19: 13,480,571 (GRCm39) |
V288E |
probably damaging |
Het |
| Or5m10 |
T |
A |
2: 85,718,074 (GRCm39) |
L310H |
probably damaging |
Het |
| Peg3 |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
7: 6,712,167 (GRCm39) |
|
probably benign |
Het |
| Pik3c2b |
T |
C |
1: 133,017,799 (GRCm39) |
|
probably null |
Het |
| Pramel21 |
T |
A |
4: 143,341,615 (GRCm39) |
Y15N |
possibly damaging |
Het |
| Prl3c1 |
A |
G |
13: 27,383,393 (GRCm39) |
I40V |
probably benign |
Het |
| R3hdm4 |
C |
T |
10: 79,747,779 (GRCm39) |
A229T |
probably damaging |
Het |
| Rab3gap2 |
T |
C |
1: 184,995,013 (GRCm39) |
S851P |
possibly damaging |
Het |
| Ralgapb |
A |
T |
2: 158,307,859 (GRCm39) |
I1056F |
probably damaging |
Het |
| Sec16b |
T |
C |
1: 157,356,899 (GRCm39) |
Y36H |
probably benign |
Het |
| Setd3 |
A |
T |
12: 108,073,924 (GRCm39) |
V451D |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,238,506 (GRCm39) |
K334R |
probably damaging |
Het |
| Synj1 |
A |
T |
16: 90,788,315 (GRCm39) |
N184K |
possibly damaging |
Het |
| Syt1 |
T |
C |
10: 108,478,109 (GRCm39) |
D105G |
probably benign |
Het |
| Taar7e |
T |
A |
10: 23,913,902 (GRCm39) |
C131S |
possibly damaging |
Het |
| Tead4 |
A |
G |
6: 128,220,331 (GRCm39) |
|
probably null |
Het |
| Tescl |
C |
A |
7: 24,033,076 (GRCm39) |
R83L |
probably damaging |
Het |
| Ufd1 |
G |
T |
16: 18,633,616 (GRCm39) |
V14F |
probably benign |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,477 (GRCm39) |
Y92N |
probably benign |
Het |
| Vmn2r52 |
C |
A |
7: 9,896,877 (GRCm39) |
V532L |
probably benign |
Het |
| Vmn2r67 |
G |
A |
7: 84,801,036 (GRCm39) |
T300I |
possibly damaging |
Het |
| Zbtb44 |
C |
T |
9: 30,965,504 (GRCm39) |
Q305* |
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 |
|
|
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 |
|
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 |
|
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'- CTATCATCCGTTAGTGATGTCTGTC -3'
(R):5'- AGCAGTGTCAGAGTCCAGAATG -3'
Sequencing Primer
(F):5'- TCACAGGTATCTAGGGTATGGAAGC -3'
(R):5'- TCCAGAATGGAGGCTCATGAAGC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation