Incidental Mutation 'R0450:Phf24'
ID 39589
Institutional Source Beutler Lab
Gene Symbol Phf24
Ensembl Gene ENSMUSG00000036062
Gene Name PHD finger protein 24
Synonyms N28178, GINIP
MMRRC Submission 038650-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0450 (G1)
Quality Score 144
Status Not validated
Chromosome 4
Chromosomal Location 42916660-42944752 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 42933761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 48 (V48L)
Ref Sequence ENSEMBL: ENSMUSP00000138130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069184] [ENSMUST00000107975] [ENSMUST00000107976] [ENSMUST00000124380] [ENSMUST00000132173] [ENSMUST00000139100]
AlphaFold Q80TL4
Predicted Effect probably benign
Transcript: ENSMUST00000069184
SMART Domains Protein: ENSMUSP00000071011
Gene: ENSMUSG00000036062

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
PDB:1WIL|A 86 161 9e-49 PDB
SCOP:d1el4a_ 158 282 3e-4 SMART
low complexity region 308 319 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107975
AA Change: V48L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000103609
Gene: ENSMUSG00000036062
AA Change: V48L

DomainStartEndE-ValueType
low complexity region 51 64 N/A INTRINSIC
Pfam:Zf_RING 126 198 2e-41 PFAM
low complexity region 243 254 N/A INTRINSIC
low complexity region 273 290 N/A INTRINSIC
low complexity region 345 356 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107976
SMART Domains Protein: ENSMUSP00000103610
Gene: ENSMUSG00000036062

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
PDB:1WIL|A 86 161 9e-49 PDB
SCOP:d1el4a_ 158 282 3e-4 SMART
low complexity region 308 319 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124380
Predicted Effect probably benign
Transcript: ENSMUST00000131234
Predicted Effect possibly damaging
Transcript: ENSMUST00000132173
AA Change: V48L

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138443
Gene: ENSMUSG00000036062
AA Change: V48L

DomainStartEndE-ValueType
low complexity region 51 64 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138425
SMART Domains Protein: ENSMUSP00000115816
Gene: ENSMUSG00000036062

DomainStartEndE-ValueType
Pfam:Zf_RING 27 74 1.4e-24 PFAM
SCOP:d1el4a_ 80 204 2e-4 SMART
low complexity region 230 241 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000139100
AA Change: V48L

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151824
Meta Mutation Damage Score 0.0668 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele develop a selective and prolonged mechanical hypersensitivity in models of inflammation and neuropathy and show impaired baclofen-mediated analgesia following nerve injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl G A 2: 127,722,423 (GRCm39) probably null Het
AI606181 A C 19: 41,582,170 (GRCm39) K113N unknown Het
Ankrd11 T C 8: 123,618,914 (GRCm39) D1646G possibly damaging Het
Ap2m1 T A 16: 20,360,990 (GRCm39) I334N possibly damaging Het
Arih2 T A 9: 108,482,291 (GRCm39) H490L possibly damaging Het
Ccdc168 T A 1: 44,100,257 (GRCm39) K280N possibly damaging Het
Cdhr1 T C 14: 36,802,633 (GRCm39) Y610C probably damaging Het
Cdkal1 C A 13: 29,875,579 (GRCm39) probably null Het
Cep76 A T 18: 67,767,850 (GRCm39) N227K probably benign Het
Clca4b A T 3: 144,619,112 (GRCm39) Y676N probably damaging Het
Cog2 T C 8: 125,255,797 (GRCm39) probably null Het
Col6a4 A T 9: 105,957,746 (GRCm39) V26D probably damaging Het
Dcaf11 T C 14: 55,806,537 (GRCm39) V446A probably damaging Het
Dync1h1 C A 12: 110,606,378 (GRCm39) Q2483K probably benign Het
Enpp3 A T 10: 24,652,679 (GRCm39) D759E probably damaging Het
Etfbkmt C T 6: 149,052,082 (GRCm39) R96W probably benign Het
Fam83a C A 15: 57,873,322 (GRCm39) Q384K probably benign Het
Glipr1l2 A G 10: 111,928,477 (GRCm39) D124G probably benign Het
Gucy2e T C 11: 69,126,402 (GRCm39) D326G probably benign Het
Hnrnph3 T A 10: 62,853,994 (GRCm39) R41S probably benign Het
Hnrnph3 T A 10: 62,855,279 (GRCm39) D2V probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Itpr2 T C 6: 146,319,477 (GRCm39) T188A possibly damaging Het
Krt23 T A 11: 99,377,608 (GRCm39) I133L probably damaging Het
Krt74 T C 15: 101,671,751 (GRCm39) noncoding transcript Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Map1a A T 2: 121,136,255 (GRCm39) H2357L probably benign Het
Mbl1 A G 14: 40,880,706 (GRCm39) N198S probably damaging Het
Mcf2l A G 8: 13,047,337 (GRCm39) D233G probably damaging Het
Mdga2 T C 12: 66,517,700 (GRCm39) K45E possibly damaging Het
Mdn1 A G 4: 32,738,619 (GRCm39) N3524S probably benign Het
Mospd3 A G 5: 137,595,294 (GRCm39) L233P probably damaging Het
Msto1 A G 3: 88,818,848 (GRCm39) L269P probably benign Het
Or4a39 A T 2: 89,237,135 (GRCm39) M96K probably damaging Het
Or5p5 T C 7: 107,413,895 (GRCm39) Y35H probably damaging Het
Or5w15 A G 2: 87,567,825 (GRCm39) V281A probably damaging Het
Or8b12i T C 9: 20,082,561 (GRCm39) Y102C probably benign Het
Or8g27 G A 9: 39,129,024 (GRCm39) V124I possibly damaging Het
Parp2 T A 14: 51,057,130 (GRCm39) Y361N probably damaging Het
Pcf11 G A 7: 92,307,039 (GRCm39) P1043L probably damaging Het
Pkn1 C A 8: 84,398,953 (GRCm39) C678F probably damaging Het
Plcl2 T C 17: 50,915,010 (GRCm39) L673P probably damaging Het
Ppp1r3c A T 19: 36,711,617 (GRCm39) F51Y possibly damaging Het
Rem2 T C 14: 54,713,754 (GRCm39) probably benign Het
Smpdl3b A G 4: 132,472,449 (GRCm39) V108A probably damaging Het
Sncaip A G 18: 53,001,781 (GRCm39) T101A probably benign Het
Stk11 T C 10: 79,961,920 (GRCm39) V47A probably damaging Het
Tmpo A C 10: 90,998,958 (GRCm39) I276M probably benign Het
Trim55 G T 3: 19,725,256 (GRCm39) V258L possibly damaging Het
Ttn A G 2: 76,560,756 (GRCm39) V29215A probably damaging Het
Ubr4 T G 4: 139,157,534 (GRCm39) S2364A probably benign Het
Unc79 T A 12: 103,045,329 (GRCm39) probably null Het
Upb1 T C 10: 75,250,917 (GRCm39) probably null Het
Usp47 T C 7: 111,655,787 (GRCm39) S155P possibly damaging Het
Zfp628 A T 7: 4,922,732 (GRCm39) Q318L probably benign Het
Zfp729b A T 13: 67,739,253 (GRCm39) V1004E probably benign Het
Other mutations in Phf24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Phf24 APN 4 42,933,905 (GRCm39) missense possibly damaging 0.76
IGL00907:Phf24 APN 4 42,938,667 (GRCm39) missense probably benign 0.01
BB004:Phf24 UTSW 4 42,934,774 (GRCm39) missense probably damaging 0.99
BB014:Phf24 UTSW 4 42,934,774 (GRCm39) missense probably damaging 0.99
R0110:Phf24 UTSW 4 42,933,761 (GRCm39) missense possibly damaging 0.81
R0355:Phf24 UTSW 4 42,933,891 (GRCm39) missense probably damaging 1.00
R0469:Phf24 UTSW 4 42,933,761 (GRCm39) missense possibly damaging 0.81
R1335:Phf24 UTSW 4 42,934,657 (GRCm39) missense probably benign 0.00
R1447:Phf24 UTSW 4 42,938,232 (GRCm39) nonsense probably null
R1824:Phf24 UTSW 4 42,934,661 (GRCm39) missense probably damaging 1.00
R1918:Phf24 UTSW 4 42,938,165 (GRCm39) unclassified probably benign
R2075:Phf24 UTSW 4 42,939,507 (GRCm39) missense possibly damaging 0.95
R3111:Phf24 UTSW 4 42,938,316 (GRCm39) missense probably benign 0.00
R3548:Phf24 UTSW 4 42,937,879 (GRCm39) nonsense probably null
R4422:Phf24 UTSW 4 42,934,817 (GRCm39) missense probably damaging 1.00
R4803:Phf24 UTSW 4 42,933,731 (GRCm39) missense probably damaging 1.00
R5287:Phf24 UTSW 4 42,933,831 (GRCm39) splice site probably null
R5403:Phf24 UTSW 4 42,933,831 (GRCm39) splice site probably null
R6025:Phf24 UTSW 4 42,938,780 (GRCm39) splice site probably null
R6309:Phf24 UTSW 4 42,933,960 (GRCm39) missense probably damaging 1.00
R7165:Phf24 UTSW 4 42,938,325 (GRCm39) missense probably benign
R7927:Phf24 UTSW 4 42,934,774 (GRCm39) missense probably damaging 0.99
R8355:Phf24 UTSW 4 42,933,735 (GRCm39) missense probably benign 0.00
R8413:Phf24 UTSW 4 42,937,906 (GRCm39) nonsense probably null
R8426:Phf24 UTSW 4 42,933,785 (GRCm39) nonsense probably null
X0026:Phf24 UTSW 4 42,939,084 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- ACTAGCCAGTCAGAAGCAGATCCAG -3'
(R):5'- AGGTTTGTCATCGTCCAGCTTCCG -3'

Sequencing Primer
(F):5'- GACCGACACTATTTAATAGTACCTGC -3'
(R):5'- CGTGGGCCGGATGAAGG -3'
Posted On 2013-05-23