Incidental Mutation 'IGL00862:Zfp53'
ID14978
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp53
Ensembl Gene ENSMUSG00000057409
Gene Namezinc finger protein 53
SynonymsZfp-53, KRAZ1, Zfp118, zfas8, D030067O06Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL00862
Quality Score
Status
Chromosome17
Chromosomal Location21491256-21509764 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 21509098 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 464 (H464Q)
Ref Sequence ENSEMBL: ENSMUSP00000075960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076664]
Predicted Effect probably benign
Transcript: ENSMUST00000076664
AA Change: H464Q

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000075960
Gene: ENSMUSG00000057409
AA Change: H464Q

DomainStartEndE-ValueType
KRAB 54 114 6.06e-23 SMART
ZnF_C2H2 226 248 1.18e-2 SMART
ZnF_C2H2 254 276 1.28e-3 SMART
ZnF_C2H2 282 304 2.65e-5 SMART
ZnF_C2H2 310 332 9.58e-3 SMART
ZnF_C2H2 338 360 2.86e-1 SMART
ZnF_C2H2 366 388 4.24e-4 SMART
ZnF_C2H2 394 416 4.87e-4 SMART
ZnF_C2H2 422 444 3.69e-4 SMART
ZnF_C2H2 450 472 6.23e-2 SMART
ZnF_C2H2 478 500 7.26e-3 SMART
ZnF_C2H2 506 528 1.72e-4 SMART
ZnF_C2H2 534 556 5.14e-3 SMART
ZnF_C2H2 562 584 9.08e-4 SMART
ZnF_C2H2 590 612 3.89e-3 SMART
ZnF_C2H2 618 640 4.87e-4 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous disruption of this locus results in pigmentation abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933425L06Rik T A 13: 105,118,684 F424L probably damaging Het
Abca8b T C 11: 109,953,548 T886A possibly damaging Het
Clca1 T A 3: 145,024,571 N171I possibly damaging Het
Eef1b2 G A 1: 63,178,506 G91R probably damaging Het
Ei24 C T 9: 36,784,478 W239* probably null Het
Fut10 G T 8: 31,235,705 V163F probably damaging Het
Msh4 T A 3: 153,883,735 D431V possibly damaging Het
Ntrk3 A T 7: 78,247,177 V704D probably damaging Het
Prune2 A C 19: 17,119,349 H739P probably benign Het
Stra8 T A 6: 34,938,063 N233K probably benign Het
Trpm6 A G 19: 18,827,528 Y948C probably damaging Het
Xirp2 A G 2: 67,516,903 I3163V probably benign Het
Zfat C T 15: 68,258,663 probably null Het
Zfp760 C A 17: 21,722,284 Q147K probably benign Het
Other mutations in Zfp53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Zfp53 APN 17 21508338 missense probably benign
IGL01651:Zfp53 APN 17 21508086 missense probably benign 0.19
IGL02183:Zfp53 APN 17 21500250 missense possibly damaging 0.51
R0063:Zfp53 UTSW 17 21508105 missense probably benign 0.19
R0449:Zfp53 UTSW 17 21508833 missense probably benign 0.17
R0514:Zfp53 UTSW 17 21509009 missense probably damaging 1.00
R0755:Zfp53 UTSW 17 21508577 missense probably damaging 1.00
R1661:Zfp53 UTSW 17 21509504 missense probably damaging 1.00
R1665:Zfp53 UTSW 17 21509504 missense probably damaging 1.00
R1693:Zfp53 UTSW 17 21509622 missense possibly damaging 0.60
R2113:Zfp53 UTSW 17 21508451 missense probably benign 0.19
R2869:Zfp53 UTSW 17 21508078 missense probably benign 0.00
R2869:Zfp53 UTSW 17 21508078 missense probably benign 0.00
R2870:Zfp53 UTSW 17 21508078 missense probably benign 0.00
R2870:Zfp53 UTSW 17 21508078 missense probably benign 0.00
R2871:Zfp53 UTSW 17 21508078 missense probably benign 0.00
R2871:Zfp53 UTSW 17 21508078 missense probably benign 0.00
R2873:Zfp53 UTSW 17 21508078 missense probably benign 0.00
R2874:Zfp53 UTSW 17 21508078 missense probably benign 0.00
R2908:Zfp53 UTSW 17 21508474 nonsense probably null
R3873:Zfp53 UTSW 17 21508631 missense probably damaging 0.98
R4499:Zfp53 UTSW 17 21509235 missense probably damaging 0.96
R4806:Zfp53 UTSW 17 21505001 missense possibly damaging 0.91
R5007:Zfp53 UTSW 17 21509510 missense probably benign 0.15
R6261:Zfp53 UTSW 17 21508713 missense possibly damaging 0.90
R6329:Zfp53 UTSW 17 21508110 missense probably benign 0.01
R6452:Zfp53 UTSW 17 21509613 missense probably damaging 1.00
R6899:Zfp53 UTSW 17 21508445 missense possibly damaging 0.62
R7033:Zfp53 UTSW 17 21500246 missense probably benign 0.05
R7250:Zfp53 UTSW 17 21509578 missense probably damaging 1.00
R8068:Zfp53 UTSW 17 21509012 missense probably benign 0.06
Posted On2012-12-06