Incidental Mutation 'Y4338:Zfp24'
ID 226084
Institutional Source Beutler Lab
Gene Symbol Zfp24
Ensembl Gene ENSMUSG00000051469
Gene Name zinc finger protein 24
Synonyms 3526401F17Rik, ZF-12, KOX17, 5033419P20Rik, Zfp191
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # Y4338 ()
Quality Score 88
Status Not validated
Chromosome 18
Chromosomal Location 24142759-24153867 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24150912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 78 (R78H)
Ref Sequence ENSEMBL: ENSMUSP00000122579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066497] [ENSMUST00000148525] [ENSMUST00000153337]
AlphaFold Q91VN1
Predicted Effect possibly damaging
Transcript: ENSMUST00000066497
AA Change: R78H

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000064637
Gene: ENSMUSG00000051469
AA Change: R78H

DomainStartEndE-ValueType
SCAN 48 160 1.75e-73 SMART
ZnF_C2H2 251 273 3.63e-3 SMART
ZnF_C2H2 279 301 5.06e-2 SMART
ZnF_C2H2 307 329 9.08e-4 SMART
ZnF_C2H2 335 357 2.4e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148525
Predicted Effect possibly damaging
Transcript: ENSMUST00000153337
AA Change: R78H

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000122579
Gene: ENSMUSG00000051469
AA Change: R78H

DomainStartEndE-ValueType
SCAN 48 160 1.75e-73 SMART
ZnF_C2H2 251 273 3.63e-3 SMART
ZnF_C2H2 279 301 5.06e-2 SMART
ZnF_C2H2 307 329 9.08e-4 SMART
ZnF_C2H2 335 357 2.4e-3 SMART
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous null for one mutation have hypomyelination of the central nervous system, tremors, tonic seizures and premature death, whereas mice homozygous null for another mutation are embryonic lethal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 7 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Slc50a1 C T 3: 89,177,417 (GRCm39) R37Q possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Unc80 C T 1: 66,560,740 (GRCm39) H823Y possibly damaging Het
Zik1 G A 7: 10,224,312 (GRCm39) R262C probably damaging Het
Other mutations in Zfp24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02750:Zfp24 APN 18 24,150,410 (GRCm39) missense possibly damaging 0.48
R1573:Zfp24 UTSW 18 24,150,399 (GRCm39) missense possibly damaging 0.70
R1946:Zfp24 UTSW 18 24,147,476 (GRCm39) frame shift probably null
R2508:Zfp24 UTSW 18 24,150,927 (GRCm39) missense probably damaging 1.00
R2845:Zfp24 UTSW 18 24,150,885 (GRCm39) missense probably damaging 0.99
R4119:Zfp24 UTSW 18 24,147,626 (GRCm39) missense possibly damaging 0.86
R4471:Zfp24 UTSW 18 24,151,172 (GRCm39) start gained probably benign
R5847:Zfp24 UTSW 18 24,151,095 (GRCm39) missense possibly damaging 0.93
R6091:Zfp24 UTSW 18 24,147,269 (GRCm39) missense probably damaging 1.00
R6659:Zfp24 UTSW 18 24,150,391 (GRCm39) missense possibly damaging 0.61
R9203:Zfp24 UTSW 18 24,147,326 (GRCm39) missense probably damaging 0.99
Y4338:Zfp24 UTSW 18 24,150,925 (GRCm39) missense probably damaging 1.00
Y5409:Zfp24 UTSW 18 24,150,912 (GRCm39) missense possibly damaging 0.55
Predicted Primers
Posted On 2014-09-11