Incidental Mutation 'IGL00419:Zfp300'
ID 5649
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp300
Ensembl Gene ENSMUSG00000031079
Gene Name zinc finger protein 300
Synonyms D930016N04Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00419
Quality Score
Status
Chromosome X
Chromosomal Location 20945413-20955766 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20948531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 411 (Y411F)
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 probably damaging
Transcript: ENSMUST00000040667
AA Change: Y411F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046514
Gene: ENSMUSG00000031079
AA Change: Y411F

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp1a4 A C 1: 172,067,373 (GRCm39) N586K probably damaging Het
AU040320 T C 4: 126,686,027 (GRCm39) M201T probably benign Het
Bcap29 A T 12: 31,680,871 (GRCm39) F38L probably benign Het
Bdkrb2 A G 12: 105,554,562 (GRCm39) probably benign Het
Ceacam5 G T 7: 17,493,481 (GRCm39) E835* probably null Het
Cenpp T C 13: 49,801,132 (GRCm39) probably null Het
Clca3a2 A G 3: 144,804,574 (GRCm39) V51A probably damaging Het
Dmxl2 T C 9: 54,313,951 (GRCm39) N1660D probably damaging Het
Exosc9 T C 3: 36,607,288 (GRCm39) probably benign Het
Ezh1 T C 11: 101,085,332 (GRCm39) probably null Het
Fbxo24 G A 5: 137,622,563 (GRCm39) R68C probably damaging Het
Gbp9 T C 5: 105,241,943 (GRCm39) I205V probably benign Het
Gpc5 A G 14: 115,607,436 (GRCm39) Y346C probably damaging Het
Hectd1 A G 12: 51,810,818 (GRCm39) Y1706H probably damaging Het
Igsf9b A G 9: 27,230,951 (GRCm39) Y318C probably damaging Het
Map1a A T 2: 121,129,508 (GRCm39) Q182L probably damaging Het
Rab11fip3 A T 17: 26,210,783 (GRCm39) probably benign Het
Rbm20 G A 19: 53,831,695 (GRCm39) R643Q probably damaging Het
Ros1 A T 10: 51,967,150 (GRCm39) C1707S probably damaging Het
Rpgrip1l G T 8: 91,990,202 (GRCm39) R747S possibly damaging Het
Rsph10b T C 5: 143,873,905 (GRCm39) *166R probably null Het
Sft2d1 G A 17: 8,539,437 (GRCm39) C80Y possibly damaging Het
Zdhhc14 T C 17: 5,802,959 (GRCm39) probably benign Het
Zfp92 T C X: 72,463,764 (GRCm39) probably benign Het
Zhx1 A G 15: 57,916,711 (GRCm39) F512L probably damaging Het
Other mutations in Zfp300
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00715:Zfp300 APN X 20,950,493 (GRCm39) missense probably damaging 0.99
R0785:Zfp300 UTSW X 20,949,164 (GRCm39) missense possibly damaging 0.92
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
Posted On 2012-04-20