Incidental Mutation 'IGL01693:Phf8'
ID 104179
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phf8
Ensembl Gene ENSMUSG00000041229
Gene Name PHD finger protein 8
Synonyms 9830141C09Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.480) question?
Stock # IGL01693
Quality Score
Status
Chromosome X
Chromosomal Location 150303668-150416855 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 150333871 bp (GRCm39)
Zygosity Heterozygous
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] [ENSMUST00000168501] [ENSMUST00000148622]
AlphaFold Q80TJ7
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 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
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 noncoding transcript
Transcript: ENSMUST00000141715
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
Akr1b8 T A 6: 34,340,271 (GRCm39) M145K possibly damaging Het
Arhgap39 T C 15: 76,610,167 (GRCm39) D943G probably null Het
Arhgap42 A T 9: 9,006,507 (GRCm39) W630R probably damaging Het
Bbs5 T A 2: 69,493,424 (GRCm39) S225T probably benign Het
Cacna1f A T X: 7,491,606 (GRCm39) N1159Y probably damaging Het
Catsperg1 A G 7: 28,884,523 (GRCm39) probably benign Het
Cemip2 A C 19: 21,779,251 (GRCm39) I354L probably benign Het
Cep15 T C 14: 12,287,380 (GRCm38) L55P probably damaging Het
Cep97 A T 16: 55,750,957 (GRCm39) W20R probably damaging Het
Cmtm8 G A 9: 114,618,773 (GRCm39) T160M probably damaging Het
Csf2ra A G 19: 61,214,434 (GRCm39) S244P possibly damaging Het
Dnah7b C T 1: 46,397,307 (GRCm39) P3913S probably benign Het
Dnai4 T C 4: 102,944,527 (GRCm39) probably null Het
Ezh1 C T 11: 101,106,084 (GRCm39) M100I probably benign Het
Gadl1 C A 9: 115,778,653 (GRCm39) P189Q probably damaging Het
Gcnt2 G A 13: 41,041,549 (GRCm39) S236N probably benign Het
H1f7 A C 15: 98,154,262 (GRCm39) Y296D unknown Het
Hmcn1 T A 1: 150,459,031 (GRCm39) D5191V probably damaging Het
Mycbp2 A T 14: 103,365,415 (GRCm39) D4194E probably damaging Het
Ncf2 C A 1: 152,700,074 (GRCm39) T203K probably benign Het
Or5a1 C A 19: 12,097,921 (GRCm39) V40L probably benign Het
Pate8 G A 9: 36,492,662 (GRCm39) T81I probably benign Het
Pkm G T 9: 59,577,805 (GRCm39) K207N probably damaging Het
Slco1a6 G T 6: 142,078,935 (GRCm39) S120* probably null Het
Sox10 C T 15: 79,040,473 (GRCm39) V195M possibly damaging Het
Swt1 A G 1: 151,297,855 (GRCm39) I24T probably benign Het
Thada T C 17: 84,754,072 (GRCm39) T300A probably benign Het
Vmn2r17 T C 5: 109,600,384 (GRCm39) Y561H probably damaging Het
Other mutations in Phf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Phf8 APN X 150,330,921 (GRCm39) critical splice donor site probably null
IGL02437:Phf8 APN X 150,414,356 (GRCm39) missense possibly damaging 0.96
IGL02494:Phf8 APN X 150,408,227 (GRCm39) missense probably benign 0.08
R0389:Phf8 UTSW X 150,335,618 (GRCm39) missense probably benign 0.05
R2265:Phf8 UTSW X 150,355,597 (GRCm39) missense possibly damaging 0.95
R2268:Phf8 UTSW X 150,355,597 (GRCm39) missense possibly damaging 0.95
R3801:Phf8 UTSW X 150,355,572 (GRCm39) missense possibly damaging 0.89
R3802:Phf8 UTSW X 150,355,572 (GRCm39) missense possibly damaging 0.89
R3803:Phf8 UTSW X 150,355,572 (GRCm39) missense possibly damaging 0.89
R3804:Phf8 UTSW X 150,355,572 (GRCm39) missense possibly damaging 0.89
Posted On 2014-01-21