Incidental Mutation 'IGL01651:Zfp53'
ID 102827
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp53
Ensembl Gene ENSMUSG00000057409
Gene Name zinc finger protein 53
Synonyms Zfp118, Zfp-53, D030067O06Rik, KRAZ1, zfas8
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL01651
Quality Score
Status
Chromosome 17
Chromosomal Location 21709260-21730735 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21728348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 127 (N127S)
Ref Sequence ENSEMBL: ENSMUSP00000075960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076664]
AlphaFold Q9Z117
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: 181,136,531 (GRCm39) probably benign Het
Alms1 T A 6: 85,633,458 (GRCm39) V2980E probably benign Het
Anxa7 A G 14: 20,506,569 (GRCm39) L457P probably damaging Het
Asic2 T C 11: 80,784,856 (GRCm39) D310G probably damaging Het
Btbd9 T C 17: 30,439,391 (GRCm39) S599G unknown Het
Col25a1 G A 3: 130,360,134 (GRCm39) M487I probably benign Het
Ddx42 T A 11: 106,138,855 (GRCm39) F885I probably benign Het
Foxi3 T C 6: 70,933,975 (GRCm39) V154A probably damaging Het
Golga3 A C 5: 110,340,771 (GRCm39) probably null Het
Igdcc4 T C 9: 65,031,394 (GRCm39) V491A possibly damaging Het
Kcnh7 T A 2: 62,564,628 (GRCm39) D877V possibly damaging Het
Kcnu1 A G 8: 26,351,123 (GRCm39) D162G probably damaging Het
Morc2a T C 11: 3,608,727 (GRCm39) probably null Het
Ndufv2 T C 17: 66,396,466 (GRCm39) N47S possibly damaging Het
Npepl1 T A 2: 173,956,181 (GRCm39) probably benign Het
Or6k4 A T 1: 173,964,907 (GRCm39) D199V probably damaging Het
Otud7b C T 3: 96,060,807 (GRCm39) Q441* probably null Het
Pard3b A C 1: 62,518,963 (GRCm39) probably benign Het
Pfkfb3 T C 2: 11,494,495 (GRCm39) E143G probably damaging Het
Pphln1 C A 15: 93,386,864 (GRCm39) Q321K probably damaging Het
Rnf121 A G 7: 101,691,862 (GRCm39) S2P probably damaging Het
Slc25a42 G A 8: 70,639,250 (GRCm39) R276C possibly damaging Het
Smgc T C 15: 91,743,986 (GRCm39) probably benign Het
Tdrd5 C T 1: 156,129,397 (GRCm39) M104I probably benign Het
Vmn2r26 T A 6: 124,027,632 (GRCm39) N457K probably benign Het
Zfp474 T C 18: 52,771,655 (GRCm39) S103P probably damaging Het
Other mutations in Zfp53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Zfp53 APN 17 21,728,600 (GRCm39) missense probably benign
IGL00862:Zfp53 APN 17 21,729,360 (GRCm39) missense probably benign 0.04
IGL02183:Zfp53 APN 17 21,720,512 (GRCm39) missense possibly damaging 0.51
R0063:Zfp53 UTSW 17 21,728,367 (GRCm39) missense probably benign 0.19
R0449:Zfp53 UTSW 17 21,729,095 (GRCm39) missense probably benign 0.17
R0514:Zfp53 UTSW 17 21,729,271 (GRCm39) missense probably damaging 1.00
R0755:Zfp53 UTSW 17 21,728,839 (GRCm39) missense probably damaging 1.00
R1661:Zfp53 UTSW 17 21,729,766 (GRCm39) missense probably damaging 1.00
R1665:Zfp53 UTSW 17 21,729,766 (GRCm39) missense probably damaging 1.00
R1693:Zfp53 UTSW 17 21,729,884 (GRCm39) missense possibly damaging 0.60
R2113:Zfp53 UTSW 17 21,728,713 (GRCm39) missense probably benign 0.19
R2869:Zfp53 UTSW 17 21,728,340 (GRCm39) missense probably benign 0.00
R2869:Zfp53 UTSW 17 21,728,340 (GRCm39) missense probably benign 0.00
R2870:Zfp53 UTSW 17 21,728,340 (GRCm39) missense probably benign 0.00
R2870:Zfp53 UTSW 17 21,728,340 (GRCm39) missense probably benign 0.00
R2871:Zfp53 UTSW 17 21,728,340 (GRCm39) missense probably benign 0.00
R2871:Zfp53 UTSW 17 21,728,340 (GRCm39) missense probably benign 0.00
R2873:Zfp53 UTSW 17 21,728,340 (GRCm39) missense probably benign 0.00
R2874:Zfp53 UTSW 17 21,728,340 (GRCm39) missense probably benign 0.00
R2908:Zfp53 UTSW 17 21,728,736 (GRCm39) nonsense probably null
R3873:Zfp53 UTSW 17 21,728,893 (GRCm39) missense probably damaging 0.98
R4499:Zfp53 UTSW 17 21,729,497 (GRCm39) missense probably damaging 0.96
R4806:Zfp53 UTSW 17 21,725,263 (GRCm39) missense possibly damaging 0.91
R5007:Zfp53 UTSW 17 21,729,772 (GRCm39) missense probably benign 0.15
R6261:Zfp53 UTSW 17 21,728,975 (GRCm39) missense possibly damaging 0.90
R6329:Zfp53 UTSW 17 21,728,372 (GRCm39) missense probably benign 0.01
R6452:Zfp53 UTSW 17 21,729,875 (GRCm39) missense probably damaging 1.00
R6899:Zfp53 UTSW 17 21,728,707 (GRCm39) missense possibly damaging 0.62
R7033:Zfp53 UTSW 17 21,720,508 (GRCm39) missense probably benign 0.05
R7250:Zfp53 UTSW 17 21,729,840 (GRCm39) missense probably damaging 1.00
R8068:Zfp53 UTSW 17 21,729,274 (GRCm39) missense probably benign 0.06
R8491:Zfp53 UTSW 17 21,729,621 (GRCm39) missense probably benign 0.02
R9627:Zfp53 UTSW 17 21,728,745 (GRCm39) nonsense probably null
Posted On 2014-01-21