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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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