Incidental Mutation 'R4119:Zfp24'
ID315247
Institutional Source Beutler Lab
Gene Symbol Zfp24
Ensembl Gene ENSMUSG00000051469
Gene Namezinc finger protein 24
SynonymsZF-12, Zfp191, KOX17, 3526401F17Rik, 5033419P20Rik
MMRRC Submission 040992-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4119 (G1)
Quality Score225
Status Validated
Chromosome18
Chromosomal Location24009702-24020810 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 24014569 bp
ZygosityHeterozygous
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]
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: 124,356,904 L39P probably damaging Het
Abcc1 A G 16: 14,394,013 M138V probably benign Het
Abl1 T A 2: 31,801,727 I1067N probably damaging Het
Adam6a C T 12: 113,544,574 T189I probably benign Het
Ankfy1 G A 11: 72,714,484 probably null Het
Aplnr T C 2: 85,136,966 Y112H possibly damaging Het
Arhgap17 A G 7: 123,306,994 F313S probably damaging Het
Arid1b T C 17: 4,995,794 probably benign Het
Bcas1 G C 2: 170,378,815 P394A probably benign Het
Ccdc116 A G 16: 17,142,187 S213P probably damaging Het
Cdh15 T C 8: 122,863,423 V365A probably damaging Het
Cenpf A G 1: 189,653,045 I2346T probably benign Het
Chd7 A G 4: 8,785,658 probably benign Het
Ezh2 A C 6: 47,544,548 N390K probably benign Het
Fbxo7 C A 10: 86,021,895 probably benign Het
Fibin A G 2: 110,362,690 Y36H probably damaging Het
Gm597 A T 1: 28,777,973 V326D probably damaging Het
Gpr37 C T 6: 25,688,426 R224H possibly damaging Het
Hars2 A T 18: 36,790,488 N363I probably damaging Het
Ip6k2 G A 9: 108,805,648 R319Q probably benign Het
Itpr1 G A 6: 108,394,355 D1140N probably benign Het
Lrig2 A G 3: 104,467,195 V190A probably benign Het
Ltk T A 2: 119,757,948 probably benign Het
Morc2a C A 11: 3,683,868 T660N probably benign Het
Msh3 A G 13: 92,354,011 probably benign Het
Myo15b T C 11: 115,873,492 S1311P probably benign Het
Nbeal1 A T 1: 60,291,870 I2213L probably damaging Het
Olfr1122 T A 2: 87,387,843 M46K possibly damaging Het
Olfr1155 A G 2: 87,943,443 Y62H probably damaging Het
P2ry12 T C 3: 59,217,841 T138A probably benign Het
Pirb T C 7: 3,717,575 D308G probably damaging Het
Pkn3 A G 2: 30,083,037 probably benign Het
Ripor1 T A 8: 105,618,857 probably benign Het
Ryr2 T C 13: 11,779,267 T942A probably benign Het
Sptbn5 T A 2: 120,064,529 D798V possibly damaging Het
Synpo2 T A 3: 123,117,150 D282V probably damaging Het
Tnik T C 3: 28,666,175 F1287L probably damaging Het
Tshz1 T G 18: 84,014,189 K698T probably benign Het
Ttc23l A C 15: 10,539,920 V159G probably damaging Het
Urb2 T A 8: 124,047,240 D1503E probably benign Het
Usp29 T A 7: 6,962,806 N549K probably benign Het
Vmn2r39 G A 7: 9,023,674 H443Y probably benign Het
Zfp472 T A 17: 32,978,215 Y421* probably null Het
Zkscan3 T C 13: 21,393,949 E256G possibly 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
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
Y4338:Zfp24 UTSW 18 24017868 missense probably damaging 1.00
Y5409:Zfp24 UTSW 18 24017855 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 On2015-05-14