Incidental Mutation 'IGL03177:Phf10'
ID412037
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phf10
Ensembl Gene ENSMUSG00000023883
Gene NamePHD finger protein 10
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03177
Quality Score
Status
Chromosome17
Chromosomal Location14945009-14961273 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 14946231 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 459 (T459I)
Ref Sequence ENSEMBL: ENSMUSP00000024657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024657] [ENSMUST00000052691] [ENSMUST00000164837] [ENSMUST00000168938] [ENSMUST00000174004] [ENSMUST00000228330]
Predicted Effect probably damaging
Transcript: ENSMUST00000024657
AA Change: T459I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000024657
Gene: ENSMUSG00000023883
AA Change: T459I

DomainStartEndE-ValueType
low complexity region 2 9 N/A INTRINSIC
low complexity region 44 55 N/A INTRINSIC
low complexity region 200 207 N/A INTRINSIC
low complexity region 281 310 N/A INTRINSIC
PHD 378 433 1.22e-8 SMART
PHD 434 478 2.44e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000052691
SMART Domains Protein: ENSMUSP00000093344
Gene: ENSMUSG00000050088

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 150 166 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164837
SMART Domains Protein: ENSMUSP00000125970
Gene: ENSMUSG00000050088

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 150 166 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168938
SMART Domains Protein: ENSMUSP00000125917
Gene: ENSMUSG00000023883

DomainStartEndE-ValueType
low complexity region 2 9 N/A INTRINSIC
low complexity region 44 55 N/A INTRINSIC
low complexity region 200 207 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171526
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172650
Predicted Effect probably benign
Transcript: ENSMUST00000174004
SMART Domains Protein: ENSMUSP00000133628
Gene: ENSMUSG00000050088

DomainStartEndE-ValueType
Pfam:UPF0669 1 185 7e-111 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174163
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227673
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228221
Predicted Effect probably benign
Transcript: ENSMUST00000228330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228869
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene contains a predicted ORF that encodes a protein with two zinc finger domains. The function of the encoded protein is not known. Sequence analysis suggests that multiple alternatively spliced transcript variants are derived from this gene but the full-length nature of only two of them is known. These two splice variants encode different isoforms. A pseudogene for this gene is located on Xq28. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a floxed allele are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg2 T C X: 160,438,263 I23T possibly damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Anxa7 T C 14: 20,456,586 I451V probably benign Het
Capn10 T C 1: 92,934,982 F37L probably benign Het
Cyp4f13 A G 17: 32,946,914 I30T possibly damaging Het
Ddx27 A G 2: 167,027,920 N392D possibly damaging Het
Dhx30 T C 9: 110,088,010 H479R possibly damaging Het
Dnah5 A G 15: 28,295,399 Y1426C probably damaging Het
Dnajc2 A G 5: 21,775,081 probably benign Het
Fbxw8 C A 5: 118,128,980 probably benign Het
Grik5 G A 7: 25,015,454 T705I probably damaging Het
H2-M3 G T 17: 37,270,316 V19F possibly damaging Het
Hapln2 C A 3: 88,022,771 C266F probably damaging Het
Hist1h2ab T A 13: 23,751,526 probably benign Het
Hspbp1 A T 7: 4,664,701 probably null Het
Jak3 T A 8: 71,682,370 V549D probably damaging Het
Mark1 A G 1: 184,944,907 S49P probably damaging Het
Mdfic T C 6: 15,770,451 V152A probably damaging Het
Mgat4a C A 1: 37,444,887 V501L probably damaging Het
Mlxip C A 5: 123,445,981 P536T possibly damaging Het
Mrpl2 A T 17: 46,649,037 T213S probably damaging Het
Nos1ap C A 1: 170,390,730 probably null Het
Olfr1247 C T 2: 89,609,482 V207I probably benign Het
Olfr786 T C 10: 129,436,815 M1T probably null Het
Olfr914 T A 9: 38,606,571 Y35* probably null Het
P2rx2 T C 5: 110,341,613 I251V probably damaging Het
Parva T A 7: 112,572,933 probably benign Het
Prg4 T A 1: 150,455,603 probably benign Het
Pum3 A T 19: 27,390,212 I639N probably benign Het
Rlf T A 4: 121,148,079 K1235* probably null Het
Ryr3 T A 2: 113,028,671 I46F probably benign Het
Sall3 A G 18: 80,972,968 S582P probably benign Het
Scn3b A C 9: 40,270,042 Y17S probably benign Het
Senp8 A G 9: 59,737,328 C169R probably damaging Het
Sgsm1 C T 5: 113,250,993 A1025T probably damaging Het
Six1 T C 12: 73,043,740 E217G possibly damaging Het
Slc38a8 T C 8: 119,485,512 D364G probably damaging Het
Stk10 A T 11: 32,614,592 E801V probably damaging Het
Ston2 A T 12: 91,647,657 I659N probably damaging Het
Stxbp4 T C 11: 90,571,753 Q331R probably benign Het
Synpo2 A T 3: 123,121,215 V54E probably damaging Het
Tax1bp1 A G 6: 52,736,947 D237G possibly damaging Het
Tmigd1 T C 11: 76,906,948 Y39H probably benign Het
Vmn1r15 A G 6: 57,258,473 T109A probably benign Het
Vmn1r209 T C 13: 22,805,854 Y222C possibly damaging Het
Zfp809 A G 9: 22,235,051 D12G probably damaging Het
Other mutations in Phf10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01418:Phf10 APN 17 14945134 missense probably benign 0.01
IGL01752:Phf10 APN 17 14954950 splice site probably benign
IGL02048:Phf10 APN 17 14945149 missense probably benign 0.00
IGL02334:Phf10 APN 17 14954099 missense probably damaging 0.99
R1562:Phf10 UTSW 17 14946250 missense probably damaging 1.00
R1913:Phf10 UTSW 17 14956809 missense probably benign 0.00
R2159:Phf10 UTSW 17 14952664 missense probably damaging 0.99
R4468:Phf10 UTSW 17 14952775 critical splice acceptor site probably null
R4498:Phf10 UTSW 17 14945115 missense probably benign 0.17
R5357:Phf10 UTSW 17 14954013 critical splice donor site probably null
R5865:Phf10 UTSW 17 14955010 intron probably benign
R6105:Phf10 UTSW 17 14954125 critical splice acceptor site probably null
R6522:Phf10 UTSW 17 14956007 missense probably damaging 1.00
R6663:Phf10 UTSW 17 14959512 missense probably null 0.05
R7203:Phf10 UTSW 17 14946313 missense probably damaging 1.00
R8018:Phf10 UTSW 17 14954116 missense possibly damaging 0.48
Posted On2016-08-02