Incidental Mutation 'R2869:Zfp53'
ID 266461
Institutional Source Beutler Lab
Gene Symbol Zfp53
Ensembl Gene ENSMUSG00000057409
Gene Name zinc finger protein 53
Synonyms Zfp118, Zfp-53, D030067O06Rik, KRAZ1, zfas8
MMRRC Submission 040457-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R2869 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 21709260-21730735 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 21728340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 124 (E124D)
Ref Sequence ENSEMBL: ENSMUSP00000075960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076664]
AlphaFold Q9Z117
Predicted Effect probably benign
Transcript: ENSMUST00000076664
AA Change: E124D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000075960
Gene: ENSMUSG00000057409
AA Change: E124D

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A G 1: 59,250,296 (GRCm39) S483P probably damaging Het
C030034I22Rik T A 17: 69,725,106 (GRCm39) noncoding transcript Het
Carmil1 G A 13: 24,229,051 (GRCm39) silent Het
Ccl27a C T 4: 41,769,640 (GRCm39) R73Q probably benign Het
Cd6 A G 19: 10,771,990 (GRCm39) I307T possibly damaging Het
Dennd2b A T 7: 109,156,637 (GRCm39) Y38N probably benign Het
Dhx57 A T 17: 80,558,805 (GRCm39) D1051E probably benign Het
Eif4enif1 C T 11: 3,192,586 (GRCm39) P805S probably damaging Het
Fan1 A G 7: 64,012,938 (GRCm39) I668T probably benign Het
Frmpd4 A T X: 166,260,243 (GRCm39) D1166E probably benign Homo
Gbp11 C T 5: 105,478,866 (GRCm39) D191N probably benign Het
Ggt6 A T 11: 72,328,187 (GRCm39) N229I probably benign Het
Gm26902 T A 19: 34,452,210 (GRCm39) H106L probably benign Het
Gm37340 G A 2: 6,955,739 (GRCm39) probably benign Het
Gm9874 A T 17: 30,704,763 (GRCm39) probably benign Het
Gria2 G A 3: 80,609,799 (GRCm39) T670I probably damaging Het
Gsdme A T 6: 50,185,157 (GRCm39) C432* probably null Het
Habp2 T A 19: 56,276,423 (GRCm39) probably benign Het
Hmcn1 A T 1: 150,614,467 (GRCm39) V1313D possibly damaging Het
Kcnb1 A G 2: 166,947,855 (GRCm39) L331P probably damaging Het
Klf8 A T X: 152,165,678 (GRCm39) E82D probably damaging Homo
Krt13 A G 11: 100,008,475 (GRCm39) S421P unknown Het
Lactbl1 G A 4: 136,354,097 (GRCm39) C37Y probably damaging Het
Lzts2 C A 19: 45,012,534 (GRCm39) S321* probably null Het
Marchf8 C T 6: 116,378,106 (GRCm39) probably benign Het
Meikin T C 11: 54,264,333 (GRCm39) V103A possibly damaging Het
Mki67 G A 7: 135,309,878 (GRCm39) P191L probably benign Het
Mlxip A G 5: 123,590,730 (GRCm39) M878V probably benign Het
Mpp7 G A 18: 7,461,678 (GRCm39) P65L possibly damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nav1 A G 1: 135,388,495 (GRCm39) silent Het
Nbn T A 4: 15,963,810 (GRCm39) D70E probably damaging Het
Nell1 A T 7: 49,899,405 (GRCm39) probably benign Het
Nomo1 C A 7: 45,696,361 (GRCm39) T293N probably damaging Het
Notum A G 11: 120,551,022 (GRCm39) V48A probably benign Het
Nwd2 A T 5: 63,957,671 (GRCm39) I334L probably benign Het
Or10z1 T C 1: 174,078,092 (GRCm39) S134G probably benign Het
Or4k2 T C 14: 50,423,811 (GRCm39) T288A probably benign Het
Or6c211 A T 10: 129,505,628 (GRCm39) C253* probably null Het
Ostc T C 3: 130,497,157 (GRCm39) N80S probably damaging Het
Otud4 T A 8: 80,387,702 (GRCm39) N300K possibly damaging Het
Palmd T C 3: 116,717,400 (GRCm39) R366G possibly damaging Het
Parp1 A G 1: 180,401,230 (GRCm39) D45G probably damaging Het
Pes1 C A 11: 3,926,834 (GRCm39) T372K probably benign Het
Plcl1 A T 1: 55,736,309 (GRCm39) D550V probably benign Het
Ppp1r7 T A 1: 93,285,585 (GRCm39) probably null Het
Prdx4 A G X: 154,123,460 (GRCm39) V15A probably benign Homo
Psmb8 T C 17: 34,419,144 (GRCm39) I146T probably damaging Het
Psmd13 A T 7: 140,466,968 (GRCm39) T116S probably damaging Het
Pzp A T 6: 128,462,519 (GRCm39) probably null Het
Serinc2 A G 4: 130,159,005 (GRCm39) S29P probably damaging Het
Slc39a8 T A 3: 135,592,554 (GRCm39) probably null Het
Sppl2c C T 11: 104,078,141 (GRCm39) P314S probably benign Het
St7 C T 6: 17,819,276 (GRCm39) P60L probably damaging Het
Stx3 A T 19: 11,766,938 (GRCm39) V91D probably damaging Het
Taf6l A G 19: 8,755,992 (GRCm39) probably benign Het
Tafa2 A T 10: 123,540,270 (GRCm39) H42L possibly damaging Het
Tnni3k C T 3: 154,644,387 (GRCm39) probably null Het
Tprg1 T C 16: 25,231,590 (GRCm39) W189R probably damaging Het
Trim32 A G 4: 65,532,694 (GRCm39) D417G probably damaging Het
Vmn2r68 A C 7: 84,882,834 (GRCm39) M306R probably benign Het
Vwa7 G A 17: 35,240,218 (GRCm39) M395I probably damaging Het
Ybx3 G A 6: 131,347,376 (GRCm39) A253V probably damaging Het
Zzz3 T A 3: 152,152,481 (GRCm39) silent 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
IGL01651:Zfp53 APN 17 21,728,348 (GRCm39) missense probably benign 0.19
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
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
Predicted Primers PCR Primer
(F):5'- AAGGGTCAGCTACTGGGAGATC -3'
(R):5'- GCAGCATAGAGTCTCTGATTTTC -3'

Sequencing Primer
(F):5'- GTCAGCTACTGGGAGATCTATTC -3'
(R):5'- CTGATTTTCAGTAAGGTTGGAAGAC -3'
Posted On 2015-02-18