Incidental Mutation 'Y4338:Zfp24'
ID226085
Institutional Source Beutler Lab
Gene Symbol Zfp24
Ensembl Gene ENSMUSG00000051469
Gene Namezinc finger protein 24
SynonymsZF-12, Zfp191, KOX17, 3526401F17Rik, 5033419P20Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #Y4338 ()
Quality Score87
Status Not validated
Chromosome18
Chromosomal Location24009702-24020810 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to C at 24017868 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 74 (R74G)
Ref Sequence ENSEMBL: ENSMUSP00000122579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066497] [ENSMUST00000148525] [ENSMUST00000153337]
Predicted Effect probably damaging
Transcript: ENSMUST00000066497
AA Change: R74G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000064637
Gene: ENSMUSG00000051469
AA Change: R74G

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 probably damaging
Transcript: ENSMUST00000153337
AA Change: R74G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122579
Gene: ENSMUSG00000051469
AA Change: R74G

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: 35,172,151 P44L probably benign Het
Hsh2d G A 8: 72,200,460 D229N probably benign Het
Obscn T C 11: 59,131,646 R758G possibly damaging Het
Slc50a1 C T 3: 89,270,110 R37Q possibly damaging Het
Syce1 C A 7: 140,779,896 L83F probably damaging Het
Unc80 C T 1: 66,521,581 H823Y possibly damaging Het
Zik1 G A 7: 10,490,385 R262C probably damaging Het
Other mutations in Zfp24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02750:Zfp24 APN 18 24017353 missense possibly damaging 0.48
R1573:Zfp24 UTSW 18 24017342 missense possibly damaging 0.70
R1946:Zfp24 UTSW 18 24014419 frame shift probably null
R2508:Zfp24 UTSW 18 24017870 missense probably damaging 1.00
R2845:Zfp24 UTSW 18 24017828 missense probably damaging 0.99
R4119:Zfp24 UTSW 18 24014569 missense possibly damaging 0.86
R4471:Zfp24 UTSW 18 24018115 start gained probably benign
R5847:Zfp24 UTSW 18 24018038 missense possibly damaging 0.93
R6091:Zfp24 UTSW 18 24014212 missense probably damaging 1.00
R6659:Zfp24 UTSW 18 24017334 missense possibly damaging 0.61
Y4338:Zfp24 UTSW 18 24017855 missense possibly damaging 0.55
Y5409:Zfp24 UTSW 18 24017855 missense possibly damaging 0.55
Predicted Primers
Posted On2014-09-11