Incidental Mutation 'R1055:Wiz'
ID 94317
Institutional Source Beutler Lab
Gene Symbol Wiz
Ensembl Gene ENSMUSG00000024050
Gene Name widely-interspaced zinc finger motifs
Synonyms
MMRRC Submission 039145-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1055 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 32573029-32608413 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32606616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 40 (S40P)
Ref Sequence ENSEMBL: ENSMUSP00000130054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063824] [ENSMUST00000064694] [ENSMUST00000087703] [ENSMUST00000135618] [ENSMUST00000165912] [ENSMUST00000170603] [ENSMUST00000171728] [ENSMUST00000169280] [ENSMUST00000163107] [ENSMUST00000170617] [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: S40P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000069443
Gene: ENSMUSG00000024050
AA Change: S40P

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: S40P

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000084993
Gene: ENSMUSG00000024050
AA Change: S40P

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: ENSMUST00000165912
AA Change: S40P

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127651
Gene: ENSMUSG00000024050
AA Change: S40P

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
ZnF_C2H2 74 96 8.67e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000170603
AA Change: S40P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128241
Gene: ENSMUSG00000024050
AA Change: S40P

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000171728
AA Change: S40P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130054
Gene: ENSMUSG00000024050
AA Change: S40P

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169280
AA Change: S40P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129700
Gene: ENSMUSG00000024050
AA Change: S40P

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163107
AA Change: S40P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127943
Gene: ENSMUSG00000024050
AA Change: S40P

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000170617
AA Change: S40P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130517
Gene: ENSMUSG00000024050
AA Change: S40P

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141714
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
Meta Mutation Damage Score 0.3564 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.3%
  • 10x: 95.3%
  • 20x: 87.5%
Validation Efficiency 100% (58/58)
MGI Phenotype PHENOTYPE: Homozygous mutant mice die prenatally. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik A G 14: 64,210,724 (GRCm39) V168A possibly damaging Het
A1cf C A 19: 31,909,919 (GRCm39) T237N probably benign Het
Actl10 A T 2: 154,394,588 (GRCm39) Q180L probably benign Het
Adcy1 T C 11: 7,059,075 (GRCm39) L327P probably damaging Het
Adcy7 T C 8: 89,044,685 (GRCm39) probably benign Het
Ahctf1 G A 1: 179,591,051 (GRCm39) T1243I possibly damaging Het
Akap6 C T 12: 52,927,455 (GRCm39) Q122* probably null Het
Apob G A 12: 8,044,963 (GRCm39) G861D probably damaging Het
Arhgef11 A C 3: 87,624,425 (GRCm39) T539P probably benign Het
Cd244a T A 1: 171,404,844 (GRCm39) V232E probably damaging Het
Chia1 A C 3: 106,038,199 (GRCm39) D365A probably damaging Het
Clpsl2 C T 17: 28,768,500 (GRCm39) Q5* probably null Het
Clrn1 T A 3: 58,772,531 (GRCm39) I117F probably benign Het
Csmd3 A G 15: 47,744,933 (GRCm39) L1354P probably damaging Het
Csn2 G A 5: 87,842,596 (GRCm39) P144S possibly damaging Het
Dcdc2a T A 13: 25,286,593 (GRCm39) M172K probably damaging Het
Dnah9 A T 11: 66,050,837 (GRCm39) W152R probably damaging Het
Dnmt3a T A 12: 3,922,864 (GRCm39) S82T probably benign Het
Ebf1 A G 11: 44,523,602 (GRCm39) K146E probably damaging Het
Gfpt2 A C 11: 49,718,038 (GRCm39) R504S probably damaging Het
Gpank1 T A 17: 35,343,284 (GRCm39) S255T probably damaging Het
Greb1 T C 12: 16,732,252 (GRCm39) M1570V probably damaging Het
Gtf2i A T 5: 134,292,478 (GRCm39) I403K probably damaging Het
Hoxc11 T A 15: 102,863,270 (GRCm39) C104S probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ilrun T C 17: 27,986,910 (GRCm39) N272S probably damaging Het
Khdrbs2 A T 1: 32,683,238 (GRCm39) probably benign Het
Lix1l G T 3: 96,528,626 (GRCm39) G200V probably damaging Het
Lrrc23 T C 6: 124,755,114 (GRCm39) N141S probably damaging Het
Marchf11 A T 15: 26,309,748 (GRCm39) D134V probably damaging Het
Myo9a A T 9: 59,762,653 (GRCm39) T795S probably benign Het
Nhsl1 T A 10: 18,401,223 (GRCm39) D782E probably benign Het
Nptxr T C 15: 79,674,456 (GRCm39) probably benign Het
Nrp1 A G 8: 129,195,079 (GRCm39) M512V possibly damaging Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or12e7 ATTGCTACTC A 2: 87,287,781 (GRCm39) probably benign Het
Or5b3 G A 19: 13,388,754 (GRCm39) A274T probably benign Het
Pard3 T C 8: 128,104,761 (GRCm39) F267S probably benign Het
Pomt2 G A 12: 87,194,254 (GRCm39) T50M possibly damaging Het
Qsox2 A G 2: 26,104,137 (GRCm39) Y298H probably damaging Het
Rabgap1 A G 2: 37,382,080 (GRCm39) K450E possibly damaging Het
Rpa1 A T 11: 75,193,558 (GRCm39) V591D probably damaging Het
Sall3 A C 18: 81,013,007 (GRCm39) M1143R probably benign Het
Scgb1b19 G T 7: 32,986,768 (GRCm39) A13S unknown Het
Scn1a T C 2: 66,168,340 (GRCm39) T89A probably benign Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Sdr42e1 T G 8: 118,390,323 (GRCm39) N106T probably damaging Het
Shpk A T 11: 73,105,945 (GRCm39) M266L probably benign Het
Slc34a1 G T 13: 55,550,846 (GRCm39) R139L probably benign Het
Smbd1 C A 16: 32,627,088 (GRCm39) D67Y probably damaging Het
Srd5a3 A G 5: 76,301,485 (GRCm39) N238S probably benign Het
Tmprss2 T C 16: 97,377,462 (GRCm39) N212D probably damaging Het
Uap1 G T 1: 169,984,480 (GRCm39) probably benign Het
Ugt1a6a A G 1: 88,066,736 (GRCm39) M181V probably benign Het
Vmn2r32 C T 7: 7,477,326 (GRCm39) W355* probably null Het
Vmn2r86 T A 10: 130,282,226 (GRCm39) S797C probably damaging Het
Zfand6 A G 7: 84,265,181 (GRCm39) probably benign Het
Zfp280d G A 9: 72,236,449 (GRCm39) probably null 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
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
U24488:Wiz UTSW 17 32,606,649 (GRCm39) missense probably damaging 1.00
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'- TACATCCAGTCATGGGCTCCCAAG -3'
(R):5'- GCCAGGTACTGAGTGAAGATTCACG -3'

Sequencing Primer
(F):5'- ATGGGCTCCCAAGACATCTG -3'
(R):5'- AAGATTCACGGCTGGCAC -3'
Posted On 2014-01-05