Incidental Mutation 'IGL02936:Wt1'
ID364316
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wt1
Ensembl Gene ENSMUSG00000016458
Gene NameWilms tumor 1 homolog
SynonymsWt-1, D630046I19Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02936
Quality Score
Status
Chromosome2
Chromosomal Location105126529-105173616 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 105169039 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 308 (K308E)
Ref Sequence ENSEMBL: ENSMUSP00000120702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111098] [ENSMUST00000111099] [ENSMUST00000133470] [ENSMUST00000143043] [ENSMUST00000146842] [ENSMUST00000213301]
Predicted Effect probably damaging
Transcript: ENSMUST00000111098
AA Change: K190E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106727
Gene: ENSMUSG00000016458
AA Change: K190E

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 damaging
Transcript: ENSMUST00000111099
AA Change: K207E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106728
Gene: ENSMUSG00000016458
AA Change: K207E

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 damaging
Transcript: ENSMUST00000133470
AA Change: K334E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120054
Gene: ENSMUSG00000016458
AA Change: K334E

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 possibly damaging
Transcript: ENSMUST00000139585
AA Change: K264E

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123592
Gene: ENSMUSG00000016458
AA Change: K264E

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 damaging
Transcript: ENSMUST00000143043
AA Change: K419E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117891
Gene: ENSMUSG00000016458
AA Change: K419E

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 damaging
Transcript: ENSMUST00000146842
AA Change: K308E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120702
Gene: ENSMUSG00000016458
AA Change: K308E

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 damaging
Transcript: ENSMUST00000213301
AA Change: K419E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik G A 9: 57,258,404 T229I possibly damaging Het
Acad11 T C 9: 104,113,512 S439P probably benign Het
Acer2 A T 4: 86,900,559 N148I possibly damaging Het
Adgre1 A G 17: 57,478,833 I860V probably benign Het
Asb2 A G 12: 103,335,914 I125T probably benign Het
Atp13a2 G T 4: 141,001,949 L614F probably benign Het
Car7 A G 8: 104,548,222 T132A possibly damaging Het
Ccdc36 T C 9: 108,412,503 I173M possibly damaging Het
Cfap221 T C 1: 119,984,752 D135G probably damaging Het
Crtc3 A G 7: 80,589,763 F614L probably damaging Het
Csn3 T G 5: 87,930,133 I166S possibly damaging Het
Dna2 T G 10: 62,957,100 L298R probably damaging Het
Ece1 T C 4: 137,946,301 S387P probably benign Het
Fbxo28 C T 1: 182,341,528 G15D unknown Het
Fbxw24 A T 9: 109,624,958 probably null Het
Foxd3 T A 4: 99,656,815 V64E probably benign Het
Galnt7 A C 8: 57,584,214 V47G probably benign Het
Gcc2 A T 10: 58,296,140 L1453F probably damaging Het
Gcnt4 G A 13: 96,946,411 V72I probably benign Het
Gm10269 A C 18: 20,682,953 probably null Het
Hmcn1 T G 1: 150,697,522 Q2125H probably damaging Het
Llcfc1 T A 6: 41,684,659 S48T probably benign Het
Met G T 6: 17,553,397 V1061F probably damaging Het
Mthfd2 G A 6: 83,311,360 H138Y probably damaging Het
Mtus1 A T 8: 40,999,517 D1041E possibly damaging Het
Mug2 G A 6: 122,081,387 probably null Het
Nos3 C T 5: 24,380,993 T878I probably damaging Het
Olfr1211 A G 2: 88,929,784 M177T probably benign Het
Olfr690 A T 7: 105,330,005 Y62* probably null Het
Pbrm1 T A 14: 31,061,513 V497D probably damaging Het
Plcd1 T C 9: 119,074,199 E471G probably damaging Het
Poc1a A G 9: 106,285,027 T84A probably damaging Het
Ppm1f A G 16: 16,915,236 H209R probably damaging Het
Rccd1 T A 7: 80,317,046 K329N probably damaging Het
Serpinb9g A T 13: 33,494,882 N245I possibly damaging Het
Slc22a26 A C 19: 7,791,105 F196V probably damaging Het
Tial1 G A 7: 128,442,663 probably benign Het
Trpa1 A T 1: 14,875,969 probably null Het
Vmn1r15 A T 6: 57,258,818 K224* probably null Het
Wdr72 A T 9: 74,152,580 D424V probably damaging Het
Zwint T C 10: 72,657,124 S193P probably damaging Het
Other mutations in Wt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Wt1 APN 2 105144141 critical splice acceptor site probably null
IGL00846:Wt1 APN 2 105166957 missense probably damaging 1.00
IGL01411:Wt1 APN 2 105132974 missense probably damaging 1.00
IGL03063:Wt1 APN 2 105170023 splice site probably null
R0127:Wt1 UTSW 2 105133457 missense probably damaging 1.00
R1462:Wt1 UTSW 2 105166831 missense probably damaging 1.00
R1462:Wt1 UTSW 2 105166831 missense probably damaging 1.00
R2061:Wt1 UTSW 2 105131157 splice site probably null
R2284:Wt1 UTSW 2 105172321 missense probably benign 0.43
R2358:Wt1 UTSW 2 105163428 splice site probably benign
R3711:Wt1 UTSW 2 105163428 splice site probably benign
R5096:Wt1 UTSW 2 105143125 missense probably damaging 1.00
R5590:Wt1 UTSW 2 105127284 missense probably damaging 1.00
R5984:Wt1 UTSW 2 105172252 missense probably benign 0.44
R6821:Wt1 UTSW 2 105172267 missense probably damaging 1.00
R7128:Wt1 UTSW 2 105127325 missense probably benign 0.04
R7698:Wt1 UTSW 2 105126816 missense probably benign 0.33
R7913:Wt1 UTSW 2 105166860 missense probably damaging 0.98
R8005:Wt1 UTSW 2 105127444 critical splice donor site probably null
Z1176:Wt1 UTSW 2 105127107 missense probably damaging 0.98
Posted On2015-12-18