Incidental Mutation 'U24488:Wiz'
ID 509908
Institutional Source Beutler Lab
Gene Symbol Wiz
Ensembl Gene ENSMUSG00000024050
Gene Name widely-interspaced zinc finger motifs
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # U24488 (G0')
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 32573029-32608413 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 32606649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 29 (E29K)
Ref Sequence ENSEMBL: ENSMUSP00000069443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063824] [ENSMUST00000064694] [ENSMUST00000087703] [ENSMUST00000135618] [ENSMUST00000163107] [ENSMUST00000165912] [ENSMUST00000169280] [ENSMUST00000170603] [ENSMUST00000170617] [ENSMUST00000171728] [ENSMUST00000136375] [ENSMUST00000137458]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000063824
SMART Domains Protein: ENSMUSP00000064084
Gene: ENSMUSG00000052142

DomainStartEndE-ValueType
low complexity region 57 72 N/A INTRINSIC
low complexity region 120 137 N/A INTRINSIC
PH 165 323 3.94e0 SMART
Blast:RasGAP 354 381 9e-8 BLAST
low complexity region 385 402 N/A INTRINSIC
RasGAP 433 755 2.03e-81 SMART
low complexity region 826 839 N/A INTRINSIC
coiled coil region 932 1013 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000064694
AA Change: E29K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000069443
Gene: ENSMUSG00000024050
AA Change: E29K

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
ZnF_C2H2 74 96 8.67e-1 SMART
ZnF_C2H2 175 197 4.72e-2 SMART
ZnF_C2H2 348 370 1.67e-2 SMART
low complexity region 401 412 N/A INTRINSIC
low complexity region 439 458 N/A INTRINSIC
ZnF_C2H2 532 554 1.67e-2 SMART
low complexity region 576 588 N/A INTRINSIC
low complexity region 607 623 N/A INTRINSIC
ZnF_C2H2 702 724 1.41e0 SMART
low complexity region 784 793 N/A INTRINSIC
low complexity region 869 887 N/A INTRINSIC
ZnF_C2H2 901 927 1.06e2 SMART
low complexity region 936 956 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000087699
Predicted Effect possibly damaging
Transcript: ENSMUST00000087703
AA Change: E29K

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000084993
Gene: ENSMUSG00000024050
AA Change: E29K

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
ZnF_C2H2 74 96 8.67e-1 SMART
ZnF_C2H2 175 197 4.72e-2 SMART
ZnF_C2H2 348 370 1.67e-2 SMART
low complexity region 401 412 N/A INTRINSIC
low complexity region 439 458 N/A INTRINSIC
ZnF_C2H2 531 553 1.67e-2 SMART
low complexity region 575 587 N/A INTRINSIC
low complexity region 606 622 N/A INTRINSIC
ZnF_C2H2 701 723 1.41e0 SMART
low complexity region 783 792 N/A INTRINSIC
low complexity region 868 886 N/A INTRINSIC
ZnF_C2H2 900 926 1.06e2 SMART
low complexity region 935 955 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134723
Predicted Effect probably benign
Transcript: ENSMUST00000135618
SMART Domains Protein: ENSMUSP00000116107
Gene: ENSMUSG00000052142

DomainStartEndE-ValueType
low complexity region 35 50 N/A INTRINSIC
low complexity region 98 115 N/A INTRINSIC
PH 143 301 3.94e0 SMART
Blast:RasGAP 332 359 9e-8 BLAST
low complexity region 363 380 N/A INTRINSIC
RasGAP 411 733 2.03e-81 SMART
low complexity region 804 817 N/A INTRINSIC
coiled coil region 910 991 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000163107
AA Change: E29K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127943
Gene: ENSMUSG00000024050
AA Change: E29K

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000165912
AA Change: E29K

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127651
Gene: ENSMUSG00000024050
AA Change: E29K

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
ZnF_C2H2 74 96 8.67e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000169280
AA Change: E29K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129700
Gene: ENSMUSG00000024050
AA Change: E29K

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170603
AA Change: E29K

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000128241
Gene: ENSMUSG00000024050
AA Change: E29K

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170617
AA Change: E29K

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000130517
Gene: ENSMUSG00000024050
AA Change: E29K

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000171728
AA Change: E29K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130054
Gene: ENSMUSG00000024050
AA Change: E29K

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172216
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142203
Predicted Effect probably benign
Transcript: ENSMUST00000136375
SMART Domains Protein: ENSMUSP00000118738
Gene: ENSMUSG00000052142

DomainStartEndE-ValueType
low complexity region 35 50 N/A INTRINSIC
low complexity region 98 115 N/A INTRINSIC
PH 143 301 3.94e0 SMART
Blast:RasGAP 332 359 7e-8 BLAST
low complexity region 363 380 N/A INTRINSIC
Pfam:RasGAP 483 579 6.4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137458
SMART Domains Protein: ENSMUSP00000123141
Gene: ENSMUSG00000052142

DomainStartEndE-ValueType
low complexity region 35 50 N/A INTRINSIC
low complexity region 119 140 N/A INTRINSIC
PH 167 325 3.94e0 SMART
Blast:RasGAP 356 383 9e-8 BLAST
low complexity region 387 404 N/A INTRINSIC
RasGAP 435 757 2.03e-81 SMART
low complexity region 828 841 N/A INTRINSIC
coiled coil region 934 1015 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141714
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutant mice die prenatally. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 A G 11: 5,580,772 (GRCm39) Y922C probably damaging Het
Arhgef40 A G 14: 52,235,673 (GRCm39) T1185A probably benign Het
Atf7ip2 A G 16: 10,022,537 (GRCm39) N72S probably damaging Het
Carmil3 A G 14: 55,734,636 (GRCm39) D455G probably benign Het
Ccdc171 A T 4: 83,579,954 (GRCm39) E567V probably damaging Het
Chmp1b T A 18: 67,338,945 (GRCm39) L125Q probably damaging Het
Cnr1 T A 4: 33,944,927 (GRCm39) N438K probably benign Het
Cplane1 G T 15: 8,211,694 (GRCm39) G345C probably damaging Het
Csmd3 G A 15: 47,573,795 (GRCm39) T2091M probably damaging Het
Cyp4a29 A T 4: 115,108,204 (GRCm39) H342L possibly damaging Het
Dnah10 G A 5: 124,891,044 (GRCm39) D3212N probably damaging Het
Dnah2 G A 11: 69,374,648 (GRCm39) T1447I probably damaging Het
F11 A G 8: 45,695,349 (GRCm39) S540P probably benign Het
Fcrl6 T A 1: 172,426,437 (GRCm39) H120L probably damaging Het
Frmd6 T C 12: 70,940,653 (GRCm39) S433P probably damaging Het
Fundc1 G T X: 17,434,342 (GRCm39) A64E probably damaging Het
Garin2 A T 12: 78,761,811 (GRCm39) K158N probably damaging Het
Grid1 A G 14: 35,302,534 (GRCm39) E933G probably benign Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Hoxb3 C A 11: 96,235,456 (GRCm39) Q128K probably benign Het
Il6st C T 13: 112,631,168 (GRCm39) T369M possibly damaging Het
Itk A C 11: 46,228,971 (GRCm39) M403R probably damaging Het
Katnip A T 7: 125,369,853 (GRCm39) D147V probably damaging Het
Kif2c T C 4: 117,039,639 (GRCm39) Q17R probably benign Het
Kifap3 T C 1: 163,610,604 (GRCm39) I28T possibly damaging Het
Kit A T 5: 75,783,674 (GRCm39) R384* probably null Het
Ksr1 T A 11: 78,938,267 (GRCm39) I42F probably damaging Het
Lhcgr T A 17: 89,079,513 (GRCm39) probably null Het
Lrrc36 C T 8: 106,176,384 (GRCm39) H253Y probably benign Het
Mad1l1 T A 5: 140,300,840 (GRCm39) N19Y probably damaging Het
Marf1 A T 16: 13,950,230 (GRCm39) L1022* probably null Het
Mical3 T G 6: 120,978,457 (GRCm39) Q225P possibly damaging Het
Minar1 C A 9: 89,485,100 (GRCm39) G99V probably damaging Het
Myt1l T A 12: 29,876,895 (GRCm39) M182K unknown Het
Nepro A G 16: 44,554,949 (GRCm39) T342A probably benign Het
Nlrp5 A T 7: 23,117,653 (GRCm39) D459V possibly damaging Het
Nrcam C T 12: 44,584,042 (GRCm39) P39S probably damaging Het
Or2ag1b A T 7: 106,288,296 (GRCm39) I214N probably damaging Het
Ostm1 A G 10: 42,555,227 (GRCm39) D83G possibly damaging Het
Otoa A T 7: 120,717,763 (GRCm39) probably null Het
Pi4ka A G 16: 17,143,040 (GRCm39) I824T probably damaging Het
Plec C T 15: 76,061,930 (GRCm39) R2534H probably benign Het
Plin2 A G 4: 86,580,314 (GRCm39) V60A probably damaging Het
Rps6ka4 A G 19: 6,809,724 (GRCm39) L367P probably damaging Het
Senp7 A G 16: 56,005,182 (GRCm39) N912D probably damaging Het
Slc25a21 G T 12: 56,785,282 (GRCm39) N198K possibly damaging Het
Slc4a10 A G 2: 61,877,002 (GRCm39) D5G probably benign Het
Tex16 T C X: 111,028,815 (GRCm39) V438A probably benign Het
Tmem37 T C 1: 119,995,684 (GRCm39) Y131C probably benign Het
Top2a A C 11: 98,913,252 (GRCm39) M60R probably damaging Het
Ush2a C T 1: 188,162,963 (GRCm39) T1015I probably damaging Het
Vmn1r172 A T 7: 23,359,171 (GRCm39) I19F probably benign Het
Vmn1r230 A C 17: 21,067,014 (GRCm39) I68L probably benign Het
Vmn2r45 A C 7: 8,475,361 (GRCm39) C556G probably damaging Het
Vmn2r54 A G 7: 12,349,356 (GRCm39) I742T possibly damaging Het
Vps13c A G 9: 67,813,198 (GRCm39) K960E probably benign Het
Wdcp T A 12: 4,900,405 (GRCm39) V87E probably damaging Het
Wnk3 C T X: 149,992,456 (GRCm39) T298I probably damaging Het
Yif1b A C 7: 28,943,594 (GRCm39) Q56P probably benign Het
Zbtb25 A G 12: 76,396,014 (GRCm39) W403R probably benign Het
Zcrb1 A T 15: 93,285,515 (GRCm39) S155R probably damaging Het
Zmym4 A T 4: 126,819,453 (GRCm39) I150K possibly damaging Het
Other mutations in Wiz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02145:Wiz APN 17 32,575,893 (GRCm39) missense probably benign 0.43
IGL02176:Wiz APN 17 32,575,876 (GRCm39) missense probably damaging 0.96
IGL02212:Wiz APN 17 32,587,109 (GRCm39) missense probably damaging 1.00
IGL02213:Wiz APN 17 32,586,834 (GRCm39) missense probably benign 0.03
IGL02616:Wiz APN 17 32,578,443 (GRCm39) missense probably damaging 1.00
IGL02654:Wiz APN 17 32,578,324 (GRCm39) missense probably damaging 1.00
IGL02833:Wiz APN 17 32,576,853 (GRCm39) missense probably damaging 1.00
IGL03032:Wiz APN 17 32,575,532 (GRCm39) missense probably benign
E0370:Wiz UTSW 17 32,574,092 (GRCm39) missense probably damaging 1.00
IGL03138:Wiz UTSW 17 32,578,093 (GRCm39) missense probably damaging 1.00
PIT4494001:Wiz UTSW 17 32,580,905 (GRCm39) missense probably damaging 1.00
R0197:Wiz UTSW 17 32,575,415 (GRCm39) missense probably damaging 1.00
R0207:Wiz UTSW 17 32,576,007 (GRCm39) missense probably damaging 1.00
R0701:Wiz UTSW 17 32,575,415 (GRCm39) missense probably damaging 1.00
R0883:Wiz UTSW 17 32,575,415 (GRCm39) missense probably damaging 1.00
R1055:Wiz UTSW 17 32,606,616 (GRCm39) missense probably damaging 0.99
R1968:Wiz UTSW 17 32,578,346 (GRCm39) missense probably damaging 1.00
R2225:Wiz UTSW 17 32,575,899 (GRCm39) missense probably damaging 1.00
R2423:Wiz UTSW 17 32,580,859 (GRCm39) missense probably damaging 1.00
R2860:Wiz UTSW 17 32,580,680 (GRCm39) missense probably damaging 1.00
R2861:Wiz UTSW 17 32,580,680 (GRCm39) missense probably damaging 1.00
R3056:Wiz UTSW 17 32,576,671 (GRCm39) missense probably benign 0.01
R3755:Wiz UTSW 17 32,578,106 (GRCm39) missense probably damaging 1.00
R3885:Wiz UTSW 17 32,576,012 (GRCm39) missense possibly damaging 0.48
R3933:Wiz UTSW 17 32,576,872 (GRCm39) missense probably damaging 1.00
R4038:Wiz UTSW 17 32,578,198 (GRCm39) missense probably damaging 1.00
R4118:Wiz UTSW 17 32,588,331 (GRCm39) utr 3 prime probably benign
R4181:Wiz UTSW 17 32,586,959 (GRCm39) missense probably damaging 1.00
R4651:Wiz UTSW 17 32,576,655 (GRCm39) missense probably damaging 1.00
R4822:Wiz UTSW 17 32,575,411 (GRCm39) nonsense probably null
R4891:Wiz UTSW 17 32,576,602 (GRCm39) missense possibly damaging 0.85
R4923:Wiz UTSW 17 32,580,570 (GRCm39) missense probably benign 0.01
R5014:Wiz UTSW 17 32,578,340 (GRCm39) missense probably damaging 1.00
R5194:Wiz UTSW 17 32,596,822 (GRCm39) utr 3 prime probably benign
R5254:Wiz UTSW 17 32,597,470 (GRCm39) splice site probably benign
R5944:Wiz UTSW 17 32,576,671 (GRCm39) missense probably benign 0.01
R6015:Wiz UTSW 17 32,606,574 (GRCm39) missense probably damaging 0.99
R6263:Wiz UTSW 17 32,579,417 (GRCm39) splice site probably null
R6571:Wiz UTSW 17 32,578,298 (GRCm39) missense probably damaging 1.00
R6823:Wiz UTSW 17 32,579,395 (GRCm39) missense probably damaging 0.99
R7014:Wiz UTSW 17 32,580,840 (GRCm39) missense probably damaging 0.98
R7051:Wiz UTSW 17 32,580,507 (GRCm39) missense probably damaging 1.00
R7144:Wiz UTSW 17 32,576,602 (GRCm39) missense possibly damaging 0.85
R7221:Wiz UTSW 17 32,578,139 (GRCm39) missense probably benign 0.03
R7260:Wiz UTSW 17 32,578,085 (GRCm39) missense probably damaging 0.99
R7453:Wiz UTSW 17 32,598,049 (GRCm39) missense probably benign 0.00
R7849:Wiz UTSW 17 32,576,760 (GRCm39) missense probably benign 0.26
R8686:Wiz UTSW 17 32,586,821 (GRCm39) missense probably damaging 1.00
R9150:Wiz UTSW 17 32,586,809 (GRCm39) missense probably benign 0.31
R9298:Wiz UTSW 17 32,580,714 (GRCm39) missense probably benign
R9564:Wiz UTSW 17 32,575,939 (GRCm39) missense probably benign 0.00
R9565:Wiz UTSW 17 32,575,939 (GRCm39) missense probably benign 0.00
X0026:Wiz UTSW 17 32,606,732 (GRCm39) start codon destroyed probably null 0.94
Z1176:Wiz UTSW 17 32,580,469 (GRCm39) missense probably damaging 1.00
Z1177:Wiz UTSW 17 32,576,752 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- AATTGCAACTCAGCCCCTGC -3'
(R):5'- GGGGAGAACAAACAGAATTCTCTTC -3'

Sequencing Primer
(F):5'- CCTGCTGGGTGGGGTGAC -3'
(R):5'- TCTTCTTACTCTCTTAAGGTCTTCC -3'
Posted On 2018-04-02