Incidental Mutation 'IGL01693:Phf8'
ID104179
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phf8
Ensembl Gene ENSMUSG00000041229
Gene NamePHD finger protein 8
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.518) question?
Stock #IGL01693
Quality Score
Status
ChromosomeX
Chromosomal Location151520672-151633859 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 151550875 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 113 (V113E)
Ref Sequence ENSEMBL: ENSMUSP00000108289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046950] [ENSMUST00000046962] [ENSMUST00000112662] [ENSMUST00000112666] [ENSMUST00000112668] [ENSMUST00000112670] [ENSMUST00000148622] [ENSMUST00000168501]
Predicted Effect possibly damaging
Transcript: ENSMUST00000046950
AA Change: V113E

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000040765
Gene: ENSMUSG00000041229
AA Change: V113E

DomainStartEndE-ValueType
PHD 7 54 1.16e-9 SMART
JmjC 195 351 2.69e-49 SMART
low complexity region 480 498 N/A INTRINSIC
low complexity region 549 565 N/A INTRINSIC
low complexity region 733 742 N/A INTRINSIC
low complexity region 749 771 N/A INTRINSIC
low complexity region 789 794 N/A INTRINSIC
low complexity region 872 900 N/A INTRINSIC
low complexity region 912 941 N/A INTRINSIC
low complexity region 986 995 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000046962
AA Change: V113E

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000041312
Gene: ENSMUSG00000041229
AA Change: V113E

DomainStartEndE-ValueType
PHD 7 54 1.16e-9 SMART
JmjC 195 351 2.69e-49 SMART
low complexity region 448 464 N/A INTRINSIC
low complexity region 632 641 N/A INTRINSIC
low complexity region 648 670 N/A INTRINSIC
low complexity region 688 693 N/A INTRINSIC
low complexity region 771 779 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000112662
AA Change: V113E

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108281
Gene: ENSMUSG00000041229
AA Change: V113E

DomainStartEndE-ValueType
PHD 7 54 1.16e-9 SMART
JmjC 195 351 2.69e-49 SMART
low complexity region 448 464 N/A INTRINSIC
low complexity region 632 641 N/A INTRINSIC
low complexity region 648 670 N/A INTRINSIC
low complexity region 688 693 N/A INTRINSIC
low complexity region 771 779 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000112666
AA Change: V113E

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108285
Gene: ENSMUSG00000041229
AA Change: V113E

DomainStartEndE-ValueType
PHD 7 54 1.16e-9 SMART
JmjC 195 351 2.69e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112668
AA Change: V113E

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108287
Gene: ENSMUSG00000041229
AA Change: V113E

DomainStartEndE-ValueType
PHD 7 54 1.16e-9 SMART
JmjC 195 351 2.69e-49 SMART
low complexity region 480 498 N/A INTRINSIC
low complexity region 549 565 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112670
AA Change: V113E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108289
Gene: ENSMUSG00000041229
AA Change: V113E

DomainStartEndE-ValueType
PHD 7 54 1.16e-9 SMART
JmjC 195 351 2.69e-49 SMART
low complexity region 480 498 N/A INTRINSIC
low complexity region 549 565 N/A INTRINSIC
low complexity region 733 742 N/A INTRINSIC
low complexity region 749 771 N/A INTRINSIC
low complexity region 789 794 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141715
Predicted Effect probably damaging
Transcript: ENSMUST00000148622
AA Change: V113E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122974
Gene: ENSMUSG00000041229
AA Change: V113E

DomainStartEndE-ValueType
PHD 7 54 1.16e-9 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000168501
AA Change: V113E

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127653
Gene: ENSMUSG00000041229
AA Change: V113E

DomainStartEndE-ValueType
PHD 7 54 1.16e-9 SMART
JmjC 195 351 2.69e-49 SMART
low complexity region 480 498 N/A INTRINSIC
low complexity region 549 565 N/A INTRINSIC
low complexity region 733 742 N/A INTRINSIC
low complexity region 749 771 N/A INTRINSIC
low complexity region 789 794 N/A INTRINSIC
low complexity region 872 900 N/A INTRINSIC
low complexity region 912 941 N/A INTRINSIC
low complexity region 986 995 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a histone lysine demethylase that preferentially acts on histones in the monomethyl or dimethyl states. The encoded protein requires Fe(2+) ion, 2-oxoglutarate, and oxygen for its catalytic activity. Defects in this gene are a cause of mental retardation syndromic X-linked Siderius type (MRXSSD). Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3830406C13Rik T C 14: 12,287,380 L55P probably damaging Het
Akr1b8 T A 6: 34,363,336 M145K possibly damaging Het
Arhgap39 T C 15: 76,725,967 D943G probably null Het
Arhgap42 A T 9: 9,006,506 W630R probably damaging Het
Bbs5 T A 2: 69,663,080 S225T probably benign Het
Cacna1f A T X: 7,625,367 N1159Y probably damaging Het
Catsperg1 A G 7: 29,185,098 probably benign Het
Cep97 A T 16: 55,930,594 W20R probably damaging Het
Cmtm8 G A 9: 114,789,705 T160M probably damaging Het
Csf2ra A G 19: 61,225,996 S244P possibly damaging Het
Dnah7b C T 1: 46,358,147 P3913S probably benign Het
Ezh1 C T 11: 101,215,258 M100I probably benign Het
Gadl1 C A 9: 115,949,585 P189Q probably damaging Het
Gcnt2 G A 13: 40,888,073 S236N probably benign Het
Gm17689 G A 9: 36,581,366 T81I probably benign Het
H1fnt A C 15: 98,256,381 Y296D unknown Het
Hmcn1 T A 1: 150,583,280 D5191V probably damaging Het
Mycbp2 A T 14: 103,127,979 D4194E probably damaging Het
Ncf2 C A 1: 152,824,323 T203K probably benign Het
Olfr76 C A 19: 12,120,557 V40L probably benign Het
Pkm G T 9: 59,670,522 K207N probably damaging Het
Slco1a6 G T 6: 142,133,209 S120* probably null Het
Sox10 C T 15: 79,156,273 V195M possibly damaging Het
Swt1 A G 1: 151,422,104 I24T probably benign Het
Thada T C 17: 84,446,644 T300A probably benign Het
Tmem2 A C 19: 21,801,887 I354L probably benign Het
Vmn2r17 T C 5: 109,452,518 Y561H probably damaging Het
Wdr78 T C 4: 103,087,330 probably null Het
Other mutations in Phf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Phf8 APN X 151547925 critical splice donor site probably null
IGL02437:Phf8 APN X 151631360 missense possibly damaging 0.96
IGL02494:Phf8 APN X 151625231 missense probably benign 0.08
R0389:Phf8 UTSW X 151552622 missense probably benign 0.05
R2265:Phf8 UTSW X 151572601 missense possibly damaging 0.95
R2268:Phf8 UTSW X 151572601 missense possibly damaging 0.95
R3801:Phf8 UTSW X 151572576 missense possibly damaging 0.89
R3802:Phf8 UTSW X 151572576 missense possibly damaging 0.89
R3803:Phf8 UTSW X 151572576 missense possibly damaging 0.89
R3804:Phf8 UTSW X 151572576 missense possibly damaging 0.89
Posted On2014-01-21