Incidental Mutation 'R4119:Zfp24'
ID 315247
Institutional Source Beutler Lab
Gene Symbol Zfp24
Ensembl Gene ENSMUSG00000051469
Gene Name zinc finger protein 24
Synonyms 3526401F17Rik, ZF-12, KOX17, 5033419P20Rik, Zfp191
MMRRC Submission 040992-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4119 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 24142759-24153867 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24147626 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 229 (Y229H)
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: Y229H

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000064637
Gene: ENSMUSG00000051469
AA Change: Y229H

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: Y229H

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000122579
Gene: ENSMUSG00000051469
AA Change: Y229H

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
Meta Mutation Damage Score 0.1271 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (46/47)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik A G 6: 124,333,863 (GRCm39) L39P probably damaging Het
Abcc1 A G 16: 14,211,877 (GRCm39) M138V probably benign Het
Abl1 T A 2: 31,691,739 (GRCm39) I1067N probably damaging Het
Adam6a C T 12: 113,508,194 (GRCm39) T189I probably benign Het
Ankfy1 G A 11: 72,605,310 (GRCm39) probably null Het
Aplnr T C 2: 84,967,310 (GRCm39) Y112H possibly damaging Het
Arhgap17 A G 7: 122,906,217 (GRCm39) F313S probably damaging Het
Arid1b T C 17: 5,046,069 (GRCm39) probably benign Het
Bcas1 G C 2: 170,220,735 (GRCm39) P394A probably benign Het
Ccdc116 A G 16: 16,960,051 (GRCm39) S213P probably damaging Het
Cdh15 T C 8: 123,590,162 (GRCm39) V365A probably damaging Het
Cenpf A G 1: 189,385,242 (GRCm39) I2346T probably benign Het
Chd7 A G 4: 8,785,658 (GRCm39) probably benign Het
Ezh2 A C 6: 47,521,482 (GRCm39) N390K probably benign Het
Fbxo7 C A 10: 85,857,759 (GRCm39) probably benign Het
Fibin A G 2: 110,193,035 (GRCm39) Y36H probably damaging Het
Gpr37 C T 6: 25,688,425 (GRCm39) R224H possibly damaging Het
Hars2 A T 18: 36,923,541 (GRCm39) N363I probably damaging Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Itpr1 G A 6: 108,371,316 (GRCm39) D1140N probably benign Het
Lrig2 A G 3: 104,374,511 (GRCm39) V190A probably benign Het
Ltk T A 2: 119,588,429 (GRCm39) probably benign Het
Morc2a C A 11: 3,633,868 (GRCm39) T660N probably benign Het
Msh3 A G 13: 92,490,519 (GRCm39) probably benign Het
Myo15b T C 11: 115,764,318 (GRCm39) S1311P probably benign Het
Nbeal1 A T 1: 60,331,029 (GRCm39) I2213L probably damaging Het
Or10ag57 T A 2: 87,218,187 (GRCm39) M46K possibly damaging Het
Or5d16 A G 2: 87,773,787 (GRCm39) Y62H probably damaging Het
P2ry12 T C 3: 59,125,262 (GRCm39) T138A probably benign Het
Pirb T C 7: 3,720,574 (GRCm39) D308G probably damaging Het
Pkn3 A G 2: 29,973,049 (GRCm39) probably benign Het
Ripor1 T A 8: 106,345,489 (GRCm39) probably benign Het
Ryr2 T C 13: 11,794,153 (GRCm39) T942A probably benign Het
Spata31e5 A T 1: 28,817,054 (GRCm39) V326D probably damaging Het
Sptbn5 T A 2: 119,895,010 (GRCm39) D798V possibly damaging Het
Synpo2 T A 3: 122,910,799 (GRCm39) D282V probably damaging Het
Tnik T C 3: 28,720,324 (GRCm39) F1287L probably damaging Het
Tshz1 T G 18: 84,032,314 (GRCm39) K698T probably benign Het
Ttc23l A C 15: 10,540,006 (GRCm39) V159G probably damaging Het
Urb2 T A 8: 124,773,979 (GRCm39) D1503E probably benign Het
Usp29 T A 7: 6,965,805 (GRCm39) N549K probably benign Het
Vmn2r39 G A 7: 9,026,673 (GRCm39) H443Y probably benign Het
Zfp472 T A 17: 33,197,189 (GRCm39) Y421* probably null Het
Zkscan3 T C 13: 21,578,119 (GRCm39) E256G possibly 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
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
Y4338:Zfp24 UTSW 18 24,150,912 (GRCm39) missense possibly damaging 0.55
Y5409:Zfp24 UTSW 18 24,150,912 (GRCm39) missense possibly damaging 0.55
Predicted Primers PCR Primer
(F):5'- AGGTTTGAGCTCTGACTGTAGG -3'
(R):5'- AAGTTCTTTCCTCTCCAGCTAGG -3'

Sequencing Primer
(F):5'- CCCACATTCAAGGCATTTGTAGGG -3'
(R):5'- CCTCTCCAGCTAGGTATTGAGTG -3'
Posted On 2015-05-14