Incidental Mutation 'IGL01672:Zfp458'
ID103528
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 #IGL01672
Quality Score
Status
Chromosome13
Chromosomal Location67254918-67278466 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 67257236 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 380 (M380L)
Ref Sequence ENSEMBL: ENSMUSP00000047222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045969] [ENSMUST00000223990] [ENSMUST00000225772]
Predicted Effect probably benign
Transcript: ENSMUST00000045969
AA Change: M380L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000047222
Gene: ENSMUSG00000055480
AA Change: M380L

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 benign
Transcript: ENSMUST00000223990
Predicted Effect probably benign
Transcript: ENSMUST00000225772
AA Change: M377L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,641,357 E203G probably damaging Het
AI314180 A G 4: 58,814,041 V1355A probably benign Het
Ano1 G T 7: 144,655,675 Q206K probably damaging Het
Ap4e1 T A 2: 127,052,189 S620T probably damaging Het
Arfip1 A T 3: 84,548,032 probably benign Het
Atp8a2 A T 14: 59,691,533 M1024K probably benign Het
Brap T C 5: 121,678,845 probably benign Het
Calcrl T A 2: 84,345,070 T287S probably damaging Het
Clptm1l G A 13: 73,607,873 probably null Het
Cpb1 T A 3: 20,275,421 Q47L probably null Het
Cse1l T C 2: 166,929,967 I402T probably damaging Het
Dnah17 A G 11: 118,042,160 S3591P probably damaging Het
Dst T G 1: 34,225,693 I2322S probably damaging Het
Dync2h1 G A 9: 7,118,884 R2194* probably null Het
Eno4 A G 19: 58,943,545 N30S possibly damaging Het
Ero1l A C 14: 45,292,430 S349A probably benign Het
Fat1 C T 8: 45,040,700 T3938I probably benign Het
Focad T C 4: 88,360,590 probably null Het
Gnai3 A T 3: 108,109,459 I343N probably damaging Het
Golph3 T C 15: 12,349,557 V221A probably benign Het
Gpr153 C A 4: 152,279,913 S142* probably null Het
Itpr1 C A 6: 108,381,032 Y557* probably null Het
Nat8f5 A G 6: 85,817,952 Y9H probably damaging Het
Nbas T C 12: 13,379,649 V1045A possibly damaging Het
Nol8 T C 13: 49,675,407 V1047A possibly damaging Het
Olfr330 A C 11: 58,529,122 L288R probably benign Het
Olfr491 T A 7: 108,317,518 V208E probably benign Het
Osbpl1a G A 18: 12,766,824 T178I probably damaging Het
Palld T A 8: 61,877,502 I114F probably benign Het
Pcca A T 14: 122,690,145 Y440F probably benign Het
Pclo T C 5: 14,678,535 probably benign Het
Piwil1 T C 5: 128,749,973 M599T possibly damaging Het
Pkd1l2 T A 8: 117,080,732 Y189F possibly damaging Het
Plscr3 A G 11: 69,847,682 K91R possibly damaging Het
Rars A T 11: 35,808,553 C638S probably damaging Het
Relb T A 7: 19,611,694 H406L probably benign Het
Ros1 G T 10: 52,101,803 T1449K possibly damaging Het
Samd3 A T 10: 26,270,169 N364I possibly damaging Het
Scn2a T A 2: 65,751,934 I1542N probably damaging Het
Sdk1 T A 5: 142,185,175 M1931K probably benign Het
Sphk2 T C 7: 45,711,653 D309G possibly damaging Het
Stil T C 4: 115,032,789 S825P probably damaging Het
Swt1 C T 1: 151,394,608 probably null Het
Virma C T 4: 11,527,792 R1228C probably damaging Het
Xirp2 T A 2: 67,508,502 H362Q probably benign Het
Zfp451 C A 1: 33,762,166 M1056I probably benign Het
Other mutations in Zfp458
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01989:Zfp458 APN 13 67259627 missense probably damaging 0.98
IGL02168:Zfp458 APN 13 67258034 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 On2014-01-21