Incidental Mutation 'IGL00963:Zfp420'
ID306600
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp420
Ensembl Gene ENSMUSG00000058402
Gene Namezinc finger protein 420
SynonymsB230312I18Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00963
Quality Score
Status
Chromosome7
Chromosomal Location29859979-29877292 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 29875093 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 246 (I246T)
Ref Sequence ENSEMBL: ENSMUSP00000074417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057652] [ENSMUST00000074876]
Predicted Effect probably damaging
Transcript: ENSMUST00000057652
AA Change: I246T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000056077
Gene: ENSMUSG00000058402
AA Change: I246T

DomainStartEndE-ValueType
ZnF_C2H2 29 51 4.87e-4 SMART
ZnF_C2H2 57 79 2.24e-3 SMART
ZnF_C2H2 85 107 6.88e-4 SMART
ZnF_C2H2 113 135 5.99e-4 SMART
ZnF_C2H2 141 163 1.04e-3 SMART
ZnF_C2H2 169 191 4.17e-3 SMART
ZnF_C2H2 197 219 2.53e-2 SMART
ZnF_C2H2 225 247 4.47e-3 SMART
ZnF_C2H2 253 275 3.95e-4 SMART
ZnF_C2H2 281 303 2.27e-4 SMART
ZnF_C2H2 309 331 3.44e-4 SMART
ZnF_C2H2 337 359 9.73e-4 SMART
ZnF_C2H2 365 387 3.95e-4 SMART
ZnF_C2H2 393 415 2.2e-2 SMART
ZnF_C2H2 421 443 2.95e-3 SMART
ZnF_C2H2 449 471 2.61e-4 SMART
ZnF_C2H2 477 499 2.24e-3 SMART
ZnF_C2H2 505 527 2.57e-3 SMART
ZnF_C2H2 533 555 1.22e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000074876
AA Change: I246T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000074417
Gene: ENSMUSG00000058402
AA Change: I246T

DomainStartEndE-ValueType
ZnF_C2H2 29 51 4.87e-4 SMART
ZnF_C2H2 57 79 2.24e-3 SMART
ZnF_C2H2 85 107 6.88e-4 SMART
ZnF_C2H2 113 135 5.99e-4 SMART
ZnF_C2H2 141 163 1.04e-3 SMART
ZnF_C2H2 169 191 4.17e-3 SMART
ZnF_C2H2 197 219 2.53e-2 SMART
ZnF_C2H2 225 247 4.47e-3 SMART
ZnF_C2H2 253 275 3.95e-4 SMART
ZnF_C2H2 281 303 2.27e-4 SMART
ZnF_C2H2 309 331 3.44e-4 SMART
ZnF_C2H2 337 359 9.73e-4 SMART
ZnF_C2H2 365 387 3.95e-4 SMART
ZnF_C2H2 393 415 2.2e-2 SMART
ZnF_C2H2 421 443 2.95e-3 SMART
ZnF_C2H2 449 471 2.61e-4 SMART
ZnF_C2H2 477 499 2.24e-3 SMART
ZnF_C2H2 505 527 2.57e-3 SMART
ZnF_C2H2 533 555 1.22e-4 SMART
Pfam:zf-C2H2_6 561 578 1.6e0 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130272
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145952
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a KRAB-type zinc finger protein that negatively-regulates p53-mediated apoptosis. Under stress conditions, the encoded protein is phosphorylated by ATM and dissociates from p53, which activates p53 and initiates apoptosis. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI606181 A C 19: 41,593,789 probably benign Het
Alyref2 C T 1: 171,504,248 Q198* probably null Het
Ankrd13a T C 5: 114,801,802 S497P probably damaging Het
Chd5 C A 4: 152,382,938 N1644K probably damaging Het
Col13a1 T C 10: 61,838,697 probably benign Het
Ctnna3 T A 10: 64,945,949 D730E probably damaging Het
Dock11 A G X: 36,032,382 Q1197R possibly damaging Het
Drosha T A 15: 12,925,997 I1224N probably damaging Het
Dsc1 T C 18: 20,111,986 K42R probably null Het
Engase A G 11: 118,482,998 D322G probably damaging Het
Ephb2 T C 4: 136,658,951 D829G probably benign Het
Fgfr2 C T 7: 130,228,761 M47I probably damaging Het
Gad1-ps G T 10: 99,445,448 noncoding transcript Het
Gatb A G 3: 85,618,948 S378G probably benign Het
Hivep2 G A 10: 14,129,347 S563N probably damaging Het
Irs2 G A 8: 11,005,867 A855V probably benign Het
Jagn1 T C 6: 113,447,475 S103P probably damaging Het
Kdm6a T A X: 18,246,426 probably benign Het
Lmcd1 T C 6: 112,329,934 C356R probably damaging Het
Mefv T A 16: 3,715,720 Y229F possibly damaging Het
Myef2 T C 2: 125,115,475 Y120C probably damaging Het
Myo9a T G 9: 59,900,372 I2074S probably damaging Het
Nhs A G X: 161,847,049 S337P probably damaging Het
Nphp4 T G 4: 152,537,861 H566Q probably benign Het
Olfr618 T A 7: 103,597,637 probably null Het
Olfr715 A T 7: 107,129,065 C109* probably null Het
Pabpc2 C A 18: 39,775,337 Q552K possibly damaging Het
Podn T A 4: 108,022,174 N104I probably damaging Het
Rit1 T C 3: 88,726,431 V94A probably damaging Het
Scn7a A T 2: 66,703,945 probably benign Het
Sept4 A T 11: 87,583,373 K29M possibly damaging Het
Sowahb T C 5: 93,044,011 Y283C probably damaging Het
Srbd1 A T 17: 86,115,209 W460R probably damaging Het
Svep1 T A 4: 58,072,791 K2173* probably null Het
Tlr6 T C 5: 64,954,676 N296S possibly damaging Het
Trpm8 A G 1: 88,379,827 D1073G possibly damaging Het
Ttc28 A T 5: 111,286,389 K2399* probably null Het
Ttn A G 2: 76,887,283 probably benign Het
Uroc1 C T 6: 90,338,828 T189I probably benign Het
Usp18 C T 6: 121,255,382 Q122* probably null Het
Zfp644 T C 5: 106,638,637 probably null Het
Zfp871 A T 17: 32,774,752 V483E probably benign Het
Other mutations in Zfp420
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00582:Zfp420 APN 7 29875093 missense probably damaging 1.00
IGL02666:Zfp420 APN 7 29874370 missense probably benign
IGL03267:Zfp420 APN 7 29875483 missense probably damaging 0.97
PIT4585001:Zfp420 UTSW 7 29876005 missense probably benign
R0033:Zfp420 UTSW 7 29874562 missense probably benign 0.00
R0282:Zfp420 UTSW 7 29875680 missense probably benign 0.14
R0659:Zfp420 UTSW 7 29875539 missense probably damaging 1.00
R1888:Zfp420 UTSW 7 29874508 missense probably damaging 1.00
R1888:Zfp420 UTSW 7 29874508 missense probably damaging 1.00
R1894:Zfp420 UTSW 7 29874508 missense probably damaging 1.00
R4041:Zfp420 UTSW 7 29876002 missense probably benign
R4834:Zfp420 UTSW 7 29874334 start gained probably benign
R6979:Zfp420 UTSW 7 29876021 missense probably damaging 1.00
R7168:Zfp420 UTSW 7 29875366 missense probably damaging 1.00
Z1176:Zfp420 UTSW 7 29875486 missense possibly damaging 0.51
Posted On2015-04-16