Incidental Mutation 'IGL00907:Phf24'
ID27217
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 #IGL00907
Quality Score
Status
Chromosome4
Chromosomal Location42916660-42944752 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 42938667 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 264 (T264I)
Ref Sequence ENSEMBL: ENSMUSP00000103610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069184] [ENSMUST00000107975] [ENSMUST00000107976] [ENSMUST00000124380] [ENSMUST00000132173] [ENSMUST00000139100]
Predicted Effect probably benign
Transcript: ENSMUST00000069184
AA Change: T264I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000071011
Gene: ENSMUSG00000036062
AA Change: T264I

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: T301I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103609
Gene: ENSMUSG00000036062
AA Change: T301I

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
AA Change: T264I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000103610
Gene: ENSMUSG00000036062
AA Change: T264I

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 unknown
Transcript: ENSMUST00000131234
AA Change: T59I
Predicted Effect probably benign
Transcript: ENSMUST00000132173
SMART Domains Protein: ENSMUSP00000138443
Gene: ENSMUSG00000036062

DomainStartEndE-ValueType
low complexity region 51 64 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000138425
AA Change: T185I
SMART Domains Protein: ENSMUSP00000115816
Gene: ENSMUSG00000036062
AA Change: T185I

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armt1 A G 10: 4,454,051 F379V possibly damaging Het
Atp8b1 T C 18: 64,561,705 D502G possibly damaging Het
Brwd3 A G X: 108,784,246 probably benign Het
Ccdc171 T A 4: 83,864,249 H1259Q probably damaging Het
Chd7 T C 4: 8,840,435 I1401T probably damaging Het
Csf1 T C 3: 107,750,346 N76S probably damaging Het
Dld A G 12: 31,332,330 probably benign Het
Eif5 T A 12: 111,540,555 I141N probably damaging Het
Etl4 G A 2: 20,766,478 G674D possibly damaging Het
Fam234a G A 17: 26,213,526 R550W probably damaging Het
Hipk2 A G 6: 38,818,273 S347P probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hsd17b2 A T 8: 117,734,694 I157L probably benign Het
Ibtk A G 9: 85,690,331 S1269P possibly damaging Het
Igsf3 T C 3: 101,427,448 probably benign Het
Kin G A 2: 10,080,704 R25H probably damaging Het
Kin T C 2: 10,080,706 W26R probably damaging Het
Kir3dl1 G A X: 136,525,162 C95Y probably damaging Het
Lamc2 A G 1: 153,144,651 V383A probably benign Het
Mael A G 1: 166,204,849 Y314H probably damaging Het
Npat T C 9: 53,563,290 V794A possibly damaging Het
Nr4a2 T A 2: 57,109,217 I340F probably damaging Het
Olfr1195 A G 2: 88,683,294 V146A probably benign Het
Olfr477 A T 7: 107,990,890 D175V probably damaging Het
Olfr836 T A 9: 19,121,232 D89E possibly damaging Het
Pdcd11 T C 19: 47,107,564 V641A probably benign Het
Sars2 G T 7: 28,753,423 probably benign Het
Scn1a A C 2: 66,327,797 S411A probably damaging Het
Srsf5 T C 12: 80,947,834 V112A probably damaging Het
Susd2 T C 10: 75,640,931 N206S probably benign Het
Thrap3 C T 4: 126,165,578 G892S probably benign Het
Ttc32 T A 12: 9,034,953 Y58N probably damaging Het
Other mutations in Phf24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Phf24 APN 4 42933905 missense possibly damaging 0.76
BB004:Phf24 UTSW 4 42934774 missense probably damaging 0.99
BB014:Phf24 UTSW 4 42934774 missense probably damaging 0.99
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 splice site probably null
R5403:Phf24 UTSW 4 42933831 splice site 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
R7927:Phf24 UTSW 4 42934774 missense probably damaging 0.99
R8355:Phf24 UTSW 4 42933735 missense probably benign 0.00
R8413:Phf24 UTSW 4 42937906 nonsense probably null
R8426:Phf24 UTSW 4 42933785 nonsense probably null
X0026:Phf24 UTSW 4 42939084 critical splice acceptor site probably null
Posted On2013-04-17