Incidental Mutation 'IGL02118:Zfp598'
ID280468
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp598
Ensembl Gene ENSMUSG00000041130
Gene Namezinc finger protein 598
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.968) question?
Stock #IGL02118
Quality Score
Status
Chromosome17
Chromosomal Location24669752-24682015 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 24677617 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 223 (Y223H)
Ref Sequence ENSEMBL: ENSMUSP00000038367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047179]
Predicted Effect probably damaging
Transcript: ENSMUST00000047179
AA Change: Y223H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038367
Gene: ENSMUSG00000041130
AA Change: Y223H

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
RING 27 66 4.73e-1 SMART
ZnF_C2H2 115 140 9.46e0 SMART
low complexity region 144 153 N/A INTRINSIC
ZnF_C2H2 185 208 5.2e0 SMART
ZnF_C2H2 209 237 7.11e0 SMART
ZnF_C2H2 238 268 6.47e1 SMART
low complexity region 311 331 N/A INTRINSIC
low complexity region 344 356 N/A INTRINSIC
low complexity region 371 385 N/A INTRINSIC
low complexity region 445 454 N/A INTRINSIC
low complexity region 482 501 N/A INTRINSIC
low complexity region 526 544 N/A INTRINSIC
low complexity region 581 589 N/A INTRINSIC
low complexity region 645 663 N/A INTRINSIC
low complexity region 668 683 N/A INTRINSIC
low complexity region 694 748 N/A INTRINSIC
ZnF_C2H2 869 890 8.84e1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This protein and Grb10-interacting GYF protein 2 have been identified as a components of the mammalian 4EHP (m4EHP) complex. The complex is thought to function as a translation repressor in embryonic development. [provided by RefSeq, Oct 2012]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700057G04Rik A T 9: 92,350,958 K45* probably null Het
Acox3 T C 5: 35,601,521 Y359H possibly damaging Het
Actn2 A G 13: 12,276,547 probably benign Het
Actr8 T C 14: 29,982,771 probably null Het
Aldh16a1 G A 7: 45,146,035 P400L probably damaging Het
Aldob T A 4: 49,538,790 K243* probably null Het
Arfgap1 T C 2: 180,980,444 F274S possibly damaging Het
BC080695 A T 4: 143,571,156 T49S probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cask T C X: 13,559,395 I471V probably damaging Het
Cdc42ep4 C T 11: 113,729,116 G150S probably benign Het
Cpne1 T G 2: 156,077,643 D278A possibly damaging Het
Gcn1l1 A G 5: 115,610,879 E1856G probably damaging Het
Gm8362 A T 14: 6,771,516 V159E probably damaging Het
Golga5 A G 12: 102,495,752 I700V possibly damaging Het
Ifi206 T C 1: 173,481,768 T221A probably benign Het
Ighv2-6-8 T C 12: 113,796,417 K24R possibly damaging Het
Morc1 T C 16: 48,587,104 L661P probably benign Het
Per2 G A 1: 91,424,309 T825I probably damaging Het
Prkar2b A G 12: 31,975,964 V19A probably damaging Het
Psmb8 T A 17: 34,201,224 D263E probably damaging Het
Pum2 T C 12: 8,729,117 I563T probably benign Het
Retreg1 T G 15: 25,966,623 probably null Het
Rfx7 A G 9: 72,617,204 T559A probably benign Het
Rnf31 T G 14: 55,599,112 I801S probably damaging Het
Rom1 G T 19: 8,929,022 T51N possibly damaging Het
Sema6b G T 17: 56,132,821 P7T probably benign Het
Stpg1 A G 4: 135,508,064 probably benign Het
Sugct A T 13: 17,452,520 Y249* probably null Het
Tbc1d21 C T 9: 58,360,463 V317M probably benign Het
Tcea2 A G 2: 181,685,835 I125V probably benign Het
Ttc39b T A 4: 83,297,949 D19V probably damaging Het
Tti2 T A 8: 31,155,509 probably null Het
Usp32 A T 11: 85,032,177 Y142* probably null Het
Vill A G 9: 119,060,398 Y134C probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Zfp398 A G 6: 47,858,945 D14G probably damaging Het
Znhit6 G T 3: 145,578,104 C43F probably damaging Het
Other mutations in Zfp598
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01358:Zfp598 APN 17 24681424 unclassified probably benign
IGL02178:Zfp598 APN 17 24677543 missense probably damaging 1.00
IGL02591:Zfp598 APN 17 24677504 missense probably damaging 1.00
IGL03061:Zfp598 APN 17 24679592 missense probably benign 0.03
FR4304:Zfp598 UTSW 17 24680775 small insertion probably benign
FR4340:Zfp598 UTSW 17 24679372 small deletion probably benign
FR4340:Zfp598 UTSW 17 24680783 small insertion probably benign
FR4342:Zfp598 UTSW 17 24680780 small insertion probably benign
FR4449:Zfp598 UTSW 17 24680776 small insertion probably benign
FR4449:Zfp598 UTSW 17 24680785 small insertion probably benign
FR4548:Zfp598 UTSW 17 24680775 small insertion probably benign
FR4548:Zfp598 UTSW 17 24680776 small insertion probably benign
FR4589:Zfp598 UTSW 17 24680779 small insertion probably benign
FR4737:Zfp598 UTSW 17 24680776 small insertion probably benign
FR4737:Zfp598 UTSW 17 24680782 small insertion probably benign
FR4737:Zfp598 UTSW 17 24680791 small insertion probably benign
FR4976:Zfp598 UTSW 17 24679372 small deletion probably benign
FR4976:Zfp598 UTSW 17 24680782 small insertion probably benign
R0309:Zfp598 UTSW 17 24678584 splice site probably benign
R1295:Zfp598 UTSW 17 24679649 missense probably benign 0.00
R1296:Zfp598 UTSW 17 24679649 missense probably benign 0.00
R1471:Zfp598 UTSW 17 24680072 missense probably benign 0.00
R1523:Zfp598 UTSW 17 24678629 missense probably null 1.00
R1819:Zfp598 UTSW 17 24681130 unclassified probably benign
R2001:Zfp598 UTSW 17 24669924 missense possibly damaging 0.94
R2080:Zfp598 UTSW 17 24679667 missense probably damaging 1.00
R4447:Zfp598 UTSW 17 24676555 missense probably damaging 1.00
R5086:Zfp598 UTSW 17 24680898 unclassified probably benign
R5923:Zfp598 UTSW 17 24677549 missense probably damaging 1.00
R6191:Zfp598 UTSW 17 24677876 missense possibly damaging 0.89
R6680:Zfp598 UTSW 17 24678686 missense probably benign 0.06
R7438:Zfp598 UTSW 17 24677530 missense probably damaging 1.00
R7870:Zfp598 UTSW 17 24679330 missense probably damaging 0.98
RF009:Zfp598 UTSW 17 24680787 small insertion probably benign
RF016:Zfp598 UTSW 17 24680771 small insertion probably benign
RF018:Zfp598 UTSW 17 24680771 small insertion probably benign
RF053:Zfp598 UTSW 17 24680761 small insertion probably benign
RF058:Zfp598 UTSW 17 24680761 small insertion probably benign
RF061:Zfp598 UTSW 17 24680770 small insertion probably benign
RF064:Zfp598 UTSW 17 24680783 small insertion probably benign
Z1088:Zfp598 UTSW 17 24680210 small insertion probably benign
Z1177:Zfp598 UTSW 17 24679639 missense probably damaging 1.00
Posted On2015-04-16