Incidental Mutation 'IGL00489:Phf24'
ID332208
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phf24
Ensembl Gene ENSMUSG00000036062
Gene NamePHD finger protein 24
SynonymsN28178, GINIP
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00489
Quality Score
Status
Chromosome4
Chromosomal Location42916660-42944752 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 42933905 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Proline at position 59 (T59P)
Ref Sequence ENSEMBL: ENSMUSP00000103610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069184] [ENSMUST00000107975] [ENSMUST00000107976] [ENSMUST00000124380] [ENSMUST00000132173] [ENSMUST00000139100]
Predicted Effect possibly damaging
Transcript: ENSMUST00000069184
AA Change: T59P

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000071011
Gene: ENSMUSG00000036062
AA Change: T59P

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: T96P

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103609
Gene: ENSMUSG00000036062
AA Change: T96P

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 possibly damaging
Transcript: ENSMUST00000107976
AA Change: T59P

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103610
Gene: ENSMUSG00000036062
AA Change: T59P

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 probably benign
Transcript: ENSMUST00000132173
SMART Domains Protein: ENSMUSP00000138443
Gene: ENSMUSG00000036062

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 probably benign
Transcript: ENSMUST00000139100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151824
Coding Region Coverage
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 T C 10: 14,440,403 probably null Het
Alcam T A 16: 52,295,017 probably benign Het
Aspm C A 1: 139,478,691 A1772E probably damaging Het
Bag6 T A 17: 35,144,651 D770E probably damaging Het
Baz2b A T 2: 59,957,675 Y724* probably null Het
Ccdc178 A T 18: 21,844,911 I833N probably benign Het
Ccdc28a C A 10: 18,230,513 V22F possibly damaging Het
Cmya5 T C 13: 93,093,120 N1820S probably benign Het
Fancm T G 12: 65,106,193 I1141S probably benign Het
Fgfrl1 G A 5: 108,705,887 G287S probably damaging Het
Galntl6 G A 8: 57,857,540 P376S probably damaging Het
Gm21985 A G 2: 112,337,997 probably benign Het
Hck A G 2: 153,151,019 E482G possibly damaging Het
Kcna3 C T 3: 107,037,156 S245L probably benign Het
Mcc T C 18: 44,449,216 M798V possibly damaging Het
Nlrp9c T C 7: 26,384,588 Y522C probably benign Het
Ofcc1 C A 13: 40,280,491 S46I probably damaging Het
Pdgfra A G 5: 75,163,679 D65G probably benign Het
Pik3cg A G 12: 32,205,149 Y280H probably damaging Het
Pkd1l1 C A 11: 8,834,773 probably null Het
Plcd4 C A 1: 74,552,115 T223N probably damaging Het
Polr1b G A 2: 129,125,909 G1074D probably damaging Het
Pou2f3 T C 9: 43,128,893 T367A probably damaging Het
Prkdc T A 16: 15,799,926 M3207K possibly damaging Het
Rb1cc1 T C 1: 6,249,506 S1050P probably damaging Het
Sf3b3 G A 8: 110,813,751 R1013* probably null Het
Svep1 T C 4: 58,068,988 T2933A possibly damaging Het
Vwf A G 6: 125,658,872 R289G unknown Het
Zfp263 T C 16: 3,745,846 S155P probably benign Het
Other mutations in Phf24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00907:Phf24 APN 4 42938667 missense probably benign 0.01
R0110:Phf24 UTSW 4 42933761 missense possibly damaging 0.81
R0355:Phf24 UTSW 4 42933891 missense probably damaging 1.00
R0450:Phf24 UTSW 4 42933761 missense possibly damaging 0.81
R0469:Phf24 UTSW 4 42933761 missense possibly damaging 0.81
R1335:Phf24 UTSW 4 42934657 missense probably benign 0.00
R1447:Phf24 UTSW 4 42938232 nonsense probably null
R1824:Phf24 UTSW 4 42934661 missense probably damaging 1.00
R1918:Phf24 UTSW 4 42938165 unclassified probably benign
R2075:Phf24 UTSW 4 42939507 missense possibly damaging 0.95
R3111:Phf24 UTSW 4 42938316 missense probably benign 0.00
R3548:Phf24 UTSW 4 42937879 nonsense probably null
R4422:Phf24 UTSW 4 42934817 missense probably damaging 1.00
R4803:Phf24 UTSW 4 42933731 missense probably damaging 1.00
R5287:Phf24 UTSW 4 42933831 unclassified probably null
R5403:Phf24 UTSW 4 42933831 unclassified probably null
R6025:Phf24 UTSW 4 42938780 splice site probably null
R6309:Phf24 UTSW 4 42933960 missense probably damaging 1.00
R7165:Phf24 UTSW 4 42938325 missense probably benign
X0026:Phf24 UTSW 4 42939084 critical splice acceptor site probably null
Posted On2015-08-05