Incidental Mutation 'IGL02168:Zfp458'
ID282783
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp458
Ensembl Gene ENSMUSG00000055480
Gene Namezinc finger protein 458
SynonymsRslcan-7
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.098) question?
Stock #IGL02168
Quality Score
Status
Chromosome13
Chromosomal Location67254918-67278466 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 67258034 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 111 (C111S)
Ref Sequence ENSEMBL: ENSMUSP00000153563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045969] [ENSMUST00000223990] [ENSMUST00000225772]
Predicted Effect possibly damaging
Transcript: ENSMUST00000045969
AA Change: C114S

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000047222
Gene: ENSMUSG00000055480
AA Change: C114S

DomainStartEndE-ValueType
KRAB 5 65 5.27e-32 SMART
ZnF_C2H2 81 103 2.09e-3 SMART
ZnF_C2H2 109 131 1.03e-2 SMART
ZnF_C2H2 137 159 4.11e-2 SMART
ZnF_C2H2 193 215 2.17e1 SMART
ZnF_C2H2 221 243 2.95e-3 SMART
ZnF_C2H2 249 271 7.9e-4 SMART
ZnF_C2H2 277 299 6.32e-3 SMART
ZnF_C2H2 305 327 3.52e-1 SMART
ZnF_C2H2 333 355 1.38e-3 SMART
ZnF_C2H2 361 383 3.63e-3 SMART
ZnF_C2H2 389 411 1.2e-3 SMART
ZnF_C2H2 417 439 3.52e-1 SMART
ZnF_C2H2 445 467 4.87e-4 SMART
ZnF_C2H2 473 495 7.26e-3 SMART
ZnF_C2H2 501 523 1.18e-2 SMART
ZnF_C2H2 529 551 1.56e-2 SMART
ZnF_C2H2 557 579 2.05e-2 SMART
ZnF_C2H2 585 607 7.78e-3 SMART
ZnF_C2H2 641 663 1.76e-1 SMART
ZnF_C2H2 669 691 5.21e-4 SMART
ZnF_C2H2 697 719 5.14e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000223990
AA Change: C111S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000225772
AA Change: C111S

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and development, and are quite conserved throughout evolution. Like this gene product, a third of the zinc finger proteins containing C2H2 fingers also contain the KRAB domain, which has been found to be involved in protein-protein interactions. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010007H06Rik T C 9: 51,280,501 probably benign Het
6030468B19Rik T A 11: 117,798,418 probably benign Het
Ankra2 G A 13: 98,273,374 probably benign Het
Astn1 C A 1: 158,609,341 A823E possibly damaging Het
Cd163l1 A T 7: 140,223,486 H321L probably benign Het
Cfap43 T C 19: 47,751,923 probably benign Het
Clec4b2 T A 6: 123,204,197 N180K probably damaging Het
Col7a1 A G 9: 108,984,075 probably benign Het
Dhrs7c T C 11: 67,815,867 F284L probably benign Het
Dock1 T C 7: 135,077,131 probably benign Het
Entpd5 A T 12: 84,386,978 probably null Het
Heatr5b A T 17: 78,831,591 probably benign Het
Kdm3a A G 6: 71,600,117 V738A probably damaging Het
Klf10 A T 15: 38,296,841 F318L probably damaging Het
Mcc A C 18: 44,449,299 I770S probably damaging Het
Muc19 C T 15: 91,894,098 noncoding transcript Het
Olfr460 A T 6: 40,571,383 probably benign Het
Pcdh17 A G 14: 84,533,195 T1038A probably benign Het
Pole2 A G 12: 69,201,886 probably benign Het
Polr2c A G 8: 94,857,766 R36G probably damaging Het
Ptgs2 A G 1: 150,103,679 probably null Het
Taf5 A G 19: 47,082,478 D747G probably damaging Het
Tll1 T G 8: 64,053,967 K580T possibly damaging Het
Tmc3 A T 7: 83,619,995 N768I possibly damaging Het
Top1 G T 2: 160,704,973 probably null Het
Ubtf T C 11: 102,314,168 K97E probably damaging Het
Vcl T C 14: 21,007,287 V509A probably benign Het
Vmn2r110 A T 17: 20,583,800 probably benign Het
Zfp106 A G 2: 120,534,231 V565A possibly damaging Het
Other mutations in Zfp458
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01672:Zfp458 APN 13 67257236 missense probably benign 0.01
IGL01989:Zfp458 APN 13 67259627 missense probably damaging 0.98
IGL02620:Zfp458 APN 13 67257994 missense probably damaging 1.00
R0014:Zfp458 UTSW 13 67258090 missense possibly damaging 0.71
R0014:Zfp458 UTSW 13 67258090 missense possibly damaging 0.71
R0025:Zfp458 UTSW 13 67257898 missense probably damaging 0.98
R0066:Zfp458 UTSW 13 67259609 nonsense probably null
R0257:Zfp458 UTSW 13 67259642 nonsense probably null
R1218:Zfp458 UTSW 13 67256209 missense probably damaging 0.99
R1292:Zfp458 UTSW 13 67256690 missense probably damaging 1.00
R1490:Zfp458 UTSW 13 67257509 missense probably damaging 1.00
R1664:Zfp458 UTSW 13 67258080 missense possibly damaging 0.95
R2169:Zfp458 UTSW 13 67257049 missense probably damaging 1.00
R3769:Zfp458 UTSW 13 67257482 missense probably damaging 1.00
R5305:Zfp458 UTSW 13 67256318 missense probably benign 0.31
R5364:Zfp458 UTSW 13 67257948 nonsense probably null
R5426:Zfp458 UTSW 13 67257192 nonsense probably null
R5760:Zfp458 UTSW 13 67257789 missense probably damaging 1.00
R6151:Zfp458 UTSW 13 67257598 missense possibly damaging 0.95
R6186:Zfp458 UTSW 13 67257637 missense probably damaging 1.00
R6298:Zfp458 UTSW 13 67256806 missense probably damaging 1.00
R7368:Zfp458 UTSW 13 67257236 missense probably benign 0.01
R7483:Zfp458 UTSW 13 67256914 missense possibly damaging 0.94
R7711:Zfp458 UTSW 13 67259600 missense possibly damaging 0.95
R7921:Zfp458 UTSW 13 67256116 makesense probably null
R7993:Zfp458 UTSW 13 67257170 missense probably damaging 1.00
R8240:Zfp458 UTSW 13 67258126 missense probably damaging 1.00
R8429:Zfp458 UTSW 13 67258088 missense possibly damaging 0.86
Posted On2015-04-16