Incidental Mutation 'R0785:Zfp300'
ID 76835
Institutional Source Beutler Lab
Gene Symbol Zfp300
Ensembl Gene ENSMUSG00000031079
Gene Name zinc finger protein 300
Synonyms D930016N04Rik
MMRRC Submission 038965-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0785 (G1)
Quality Score 225
Status Validated
Chromosome X
Chromosomal Location 20945413-20955766 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20949164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 200 (Y200C)
Ref Sequence ENSEMBL: ENSMUSP00000046514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040437] [ENSMUST00000040667]
AlphaFold A2AE21
Predicted Effect probably benign
Transcript: ENSMUST00000040437
SMART Domains Protein: ENSMUSP00000048721
Gene: ENSMUSG00000037167

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
LYZ1 22 148 1.5e-55 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000040667
AA Change: Y200C

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046514
Gene: ENSMUSG00000031079
AA Change: Y200C

DomainStartEndE-ValueType
KRAB 7 66 5.73e-33 SMART
ZnF_C2H2 215 237 9.46e0 SMART
ZnF_C2H2 241 265 1.09e2 SMART
ZnF_C2H2 271 293 2.24e-3 SMART
ZnF_C2H2 299 321 8.34e-3 SMART
ZnF_C2H2 327 349 2.79e-4 SMART
ZnF_C2H2 355 377 3.16e-3 SMART
ZnF_C2H2 383 405 4.87e-4 SMART
ZnF_C2H2 411 433 3.44e-4 SMART
ZnF_C2H2 439 461 1.13e-4 SMART
ZnF_C2H2 467 489 1.95e-3 SMART
ZnF_C2H2 497 517 4.23e0 SMART
ZnF_C2H2 526 548 1.47e-3 SMART
ZnF_C2H2 554 576 2.79e-4 SMART
ZnF_C2H2 582 604 2.09e-3 SMART
low complexity region 628 645 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139060
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154299
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.1%
  • 20x: 87.1%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G A 7: 119,893,380 (GRCm39) G1277R probably damaging Het
Adam10 A G 9: 70,675,170 (GRCm39) E593G possibly damaging Het
Adh6a T C 3: 138,034,829 (GRCm39) probably benign Het
Akap6 T A 12: 52,933,405 (GRCm39) I299N probably benign Het
Bltp1 T C 3: 37,013,483 (GRCm39) probably benign Het
Bod1l A T 5: 41,977,359 (GRCm39) N1318K probably benign Het
Ccdc121rt2 A G 5: 112,598,434 (GRCm39) D327G probably benign Het
Eif2b2 C A 12: 85,268,335 (GRCm39) T170K probably damaging Het
Ermard T A 17: 15,242,239 (GRCm39) H138Q probably damaging Het
Ern2 A T 7: 121,770,884 (GRCm39) probably null Het
Fkbp11 T C 15: 98,624,430 (GRCm39) K108R probably damaging Het
Golgb1 A G 16: 36,719,152 (GRCm39) K353E possibly damaging Het
Hipk1 G T 3: 103,661,641 (GRCm39) probably null Het
Itga4 A G 2: 79,119,649 (GRCm39) D485G possibly damaging Het
Krt1c C A 15: 101,726,356 (GRCm39) G61C unknown Het
Med12l T A 3: 59,168,253 (GRCm39) L1561Q probably damaging Het
Mtmr14 T C 6: 113,254,908 (GRCm39) probably null Het
Myorg A G 4: 41,497,539 (GRCm39) V697A probably benign Het
Naip1 A G 13: 100,559,584 (GRCm39) M1140T probably benign Het
Naip1 C T 13: 100,559,593 (GRCm39) R1137Q probably benign Het
Nav2 T A 7: 49,070,081 (GRCm39) H251Q probably benign Het
Nphp4 A G 4: 152,646,566 (GRCm39) D1366G possibly damaging Het
Or2b7 A G 13: 21,739,958 (GRCm39) V78A probably benign Het
Or6c75 A G 10: 129,336,750 (GRCm39) probably null Het
Pde6c A C 19: 38,121,628 (GRCm39) M79L probably benign Het
Pld5 C T 1: 175,803,018 (GRCm39) probably benign Het
Polr1g G C 7: 19,091,210 (GRCm39) S299C probably benign Het
Rps6kc1 A G 1: 190,541,142 (GRCm39) V387A probably damaging Het
Tas2r136 T C 6: 132,754,890 (GRCm39) D79G probably benign Het
Tmem243 A T 5: 9,168,488 (GRCm39) K90I probably damaging Het
Topbp1 A G 9: 103,192,289 (GRCm39) H260R probably damaging Het
Trappc1 A G 11: 69,215,636 (GRCm39) probably benign Het
Vmn2r125 C A 4: 156,703,396 (GRCm39) A258D probably benign Het
Other mutations in Zfp300
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Zfp300 APN X 20,948,531 (GRCm39) missense probably damaging 0.97
IGL00715:Zfp300 APN X 20,950,493 (GRCm39) missense probably damaging 0.99
R2144:Zfp300 UTSW X 20,948,190 (GRCm39) missense possibly damaging 0.93
R2145:Zfp300 UTSW X 20,948,190 (GRCm39) missense possibly damaging 0.93
R4427:Zfp300 UTSW X 20,949,405 (GRCm39) missense possibly damaging 0.70
Z1176:Zfp300 UTSW X 20,948,164 (GRCm39) missense probably damaging 0.99
Predicted Primers
Posted On 2013-10-16