Incidental Mutation 'IGL01651:Zfp53'
ID102827
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: 0.069) question?
Stock #IGL01651
Quality Score
Status
Chromosome17
Chromosomal Location21491256-21509764 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 21508086 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 127 (N127S)
Ref Sequence ENSEMBL: ENSMUSP00000075960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076664]
Predicted Effect probably benign
Transcript: ENSMUST00000076664
AA Change: N127S

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000075960
Gene: ENSMUSG00000057409
AA Change: N127S

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b T C 2: 181,494,738 probably benign Het
Alms1 T A 6: 85,656,476 V2980E probably benign Het
Anxa7 A G 14: 20,456,501 L457P probably damaging Het
Asic2 T C 11: 80,894,030 D310G probably damaging Het
Btbd9 T C 17: 30,220,417 S599G unknown Het
Col25a1 G A 3: 130,566,485 M487I probably benign Het
Ddx42 T A 11: 106,248,029 F885I probably benign Het
Foxi3 T C 6: 70,956,991 V154A probably damaging Het
Golga3 A C 5: 110,192,905 probably null Het
Igdcc4 T C 9: 65,124,112 V491A possibly damaging Het
Kcnh7 T A 2: 62,734,284 D877V possibly damaging Het
Kcnu1 A G 8: 25,861,095 D162G probably damaging Het
Morc2a T C 11: 3,658,727 probably null Het
Ndufv2 T C 17: 66,089,471 N47S possibly damaging Het
Npepl1 T A 2: 174,114,388 probably benign Het
Olfr424 A T 1: 174,137,341 D199V probably damaging Het
Otud7b C T 3: 96,153,490 Q441* probably null Het
Pard3b A C 1: 62,479,804 probably benign Het
Pfkfb3 T C 2: 11,489,684 E143G probably damaging Het
Pphln1 C A 15: 93,488,983 Q321K probably damaging Het
Rnf121 A G 7: 102,042,655 S2P probably damaging Het
Slc25a42 G A 8: 70,186,600 R276C possibly damaging Het
Smgc T C 15: 91,859,788 probably benign Het
Tdrd5 C T 1: 156,301,827 M104I probably benign Het
Vmn2r26 T A 6: 124,050,673 N457K probably benign Het
Zfp474 T C 18: 52,638,583 S103P probably damaging Het
Other mutations in Zfp53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Zfp53 APN 17 21508338 missense probably benign
IGL00862:Zfp53 APN 17 21509098 missense probably benign 0.04
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
Posted On2014-01-21