Incidental Mutation 'IGL02437:Phf8'
ID 293308
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 # IGL02437
Quality Score
Status
Chromosome X
Chromosomal Location 150303668-150416855 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 150414356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 1002 (L1002Q)
Ref Sequence ENSEMBL: ENSMUSP00000127653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046950] [ENSMUST00000168501]
AlphaFold Q80TJ7
Predicted Effect possibly damaging
Transcript: ENSMUST00000046950
AA Change: L1002Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000040765
Gene: ENSMUSG00000041229
AA Change: L1002Q

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 noncoding transcript
Transcript: ENSMUST00000138318
Predicted Effect possibly damaging
Transcript: ENSMUST00000168501
AA Change: L1002Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127653
Gene: ENSMUSG00000041229
AA Change: L1002Q

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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Abca16 T G 7: 120,132,952 (GRCm39) C1294G probably benign Het
Abca7 T A 10: 79,844,223 (GRCm39) S1410T probably damaging Het
Abhd12 T C 2: 150,676,289 (GRCm39) D356G probably benign Het
BC004004 T C 17: 29,517,671 (GRCm39) L295P probably damaging Het
Bpifc T C 10: 85,824,595 (GRCm39) S215G probably damaging Het
Bptf C T 11: 106,965,521 (GRCm39) M1109I probably benign Het
Brat1 C T 5: 140,698,563 (GRCm39) A245V possibly damaging Het
Cask G A X: 13,403,860 (GRCm39) T16I probably damaging Het
Cemip2 T C 19: 21,789,342 (GRCm39) probably null Het
Cibar2 T C 8: 120,901,525 (GRCm39) E60G probably damaging Het
Clic6 A T 16: 92,327,817 (GRCm39) I541F probably damaging Het
Clnk C T 5: 38,931,909 (GRCm39) probably null Het
Cntnap1 T A 11: 101,077,677 (GRCm39) I1113N probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp26a1 T C 19: 37,686,943 (GRCm39) S132P probably benign Het
Cyp4f13 G T 17: 33,149,582 (GRCm39) H85N probably benign Het
Dcaf15 C T 8: 84,828,445 (GRCm39) G215D probably damaging Het
Dip2a T C 10: 76,134,101 (GRCm39) T500A probably benign Het
Gbe1 T A 16: 70,231,546 (GRCm39) probably benign Het
Gli2 T A 1: 118,763,733 (GRCm39) I1473F probably damaging Het
Gm5129 A T 5: 29,940,861 (GRCm39) probably benign Het
Hdgf C T 3: 87,821,792 (GRCm39) R168C probably damaging Het
Heph A G X: 95,516,633 (GRCm39) T342A probably benign Het
Kdelr3 T C 15: 79,409,988 (GRCm39) Y158H probably damaging Het
Lamb3 C T 1: 193,010,253 (GRCm39) R289C probably damaging Het
Leng8 C T 7: 4,145,092 (GRCm39) A164V probably damaging Het
Ltn1 T C 16: 87,194,889 (GRCm39) T1337A probably benign Het
Mast3 C A 8: 71,233,202 (GRCm39) R316L possibly damaging Het
Nampt A G 12: 32,880,215 (GRCm39) Y36C probably damaging Het
Ncapd3 T A 9: 26,975,264 (GRCm39) probably benign Het
Nipbl T C 15: 8,388,558 (GRCm39) D354G probably damaging Het
Nsd1 A T 13: 55,461,254 (GRCm39) R2494W probably damaging Het
Nt5c1a A G 4: 123,108,034 (GRCm39) N239S probably benign Het
Ogfr A G 2: 180,231,329 (GRCm39) E19G possibly damaging Het
Or11h4b A T 14: 50,918,657 (GRCm39) S145T probably benign Het
Or4c58 A G 2: 89,675,128 (GRCm39) L63P probably damaging Het
Pcna A T 2: 132,093,155 (GRCm39) probably benign Het
Pdia3 T A 2: 121,264,129 (GRCm39) V326E probably damaging Het
Rhobtb2 T C 14: 70,033,365 (GRCm39) E535G probably damaging Het
Rusc2 G T 4: 43,415,545 (GRCm39) D284Y probably damaging Het
Samd8 A G 14: 21,825,491 (GRCm39) Y212C probably benign Het
Sash3 C A X: 47,247,672 (GRCm39) Q169K probably benign Het
Scyl1 C T 19: 5,816,224 (GRCm39) G324S probably damaging Het
Sec62 G A 3: 30,872,996 (GRCm39) G360R unknown Het
Sis T C 3: 72,826,947 (GRCm39) probably null Het
Slc6a1 T A 6: 114,285,578 (GRCm39) I338N probably damaging Het
Snrnp200 A G 2: 127,058,030 (GRCm39) D264G probably damaging Het
Tgm3 G T 2: 129,871,961 (GRCm39) probably null Het
Tnrc6b T G 15: 80,764,658 (GRCm39) L720R probably damaging Het
Tspyl4 A T 10: 34,174,228 (GRCm39) Q240L probably damaging Het
Tube1 G A 10: 39,016,846 (GRCm39) V80I probably damaging Het
Uap1l1 C T 2: 25,253,945 (GRCm39) V304M probably damaging Het
Wtap T C 17: 13,186,620 (GRCm39) N309S probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfyve26 T C 12: 79,315,621 (GRCm39) D1285G probably benign Het
Zscan20 G A 4: 128,482,210 (GRCm39) T484I probably damaging Het
Other mutations in Phf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Phf8 APN X 150,330,921 (GRCm39) critical splice donor site probably null
IGL01693:Phf8 APN X 150,333,871 (GRCm39) missense probably damaging 1.00
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 2015-04-16