Incidental Mutation 'IGL02048:Phf1'
ID 185007
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phf1
Ensembl Gene ENSMUSG00000024193
Gene Name PHD finger protein 1
Synonyms PHF2, Tctex3, Tctex-3, D17Ertd455e, mPcl1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02048
Quality Score
Status
Chromosome 17
Chromosomal Location 27152101-27156882 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 27153515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025027] [ENSMUST00000073724] [ENSMUST00000078961] [ENSMUST00000114935]
AlphaFold Q9Z1B8
Predicted Effect probably benign
Transcript: ENSMUST00000025027
SMART Domains Protein: ENSMUSP00000025027
Gene: ENSMUSG00000024194

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 45 60 N/A INTRINSIC
Pfam:CutA1 67 165 6.9e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000073724
SMART Domains Protein: ENSMUSP00000073402
Gene: ENSMUSG00000024193

DomainStartEndE-ValueType
TUDOR 29 86 5.61e-11 SMART
PHD 89 140 2.81e-8 SMART
PHD 188 238 2.42e0 SMART
low complexity region 410 416 N/A INTRINSIC
low complexity region 481 495 N/A INTRINSIC
Pfam:Mtf2_C 523 557 7.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000078961
SMART Domains Protein: ENSMUSP00000077984
Gene: ENSMUSG00000024301

DomainStartEndE-ValueType
low complexity region 25 36 N/A INTRINSIC
low complexity region 108 117 N/A INTRINSIC
low complexity region 222 240 N/A INTRINSIC
KISc 307 670 1.34e-143 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114935
SMART Domains Protein: ENSMUSP00000110585
Gene: ENSMUSG00000024194

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:CutA1 43 144 1.7e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184739
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene belongs to the polycomb-like protein family, which is a component of polycomb repressive complex-2. This complex represses gene expression by catalyzing the trimethylation of histone H3 lysine 27 and is required for the regulation of developmental genes including homeotic genes. The gene is expressed primarily in testis tissue. Small interfering RNA-mediated knockdown in cultured cell lines results in changes in homeotic gene expression coincident with alterations in promoter methylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 C T 4: 53,069,831 (GRCm39) D1288N probably damaging Het
Abcc1 T C 16: 14,229,383 (GRCm39) F372L probably damaging Het
Adcy2 G T 13: 69,036,186 (GRCm39) N158K possibly damaging Het
Apba1 A G 19: 23,915,000 (GRCm39) probably null Het
Arap3 T C 18: 38,130,032 (GRCm39) E43G possibly damaging Het
Bet1 A T 6: 4,082,456 (GRCm39) probably null Het
Blm A G 7: 80,152,709 (GRCm39) probably benign Het
Brinp1 T C 4: 68,681,379 (GRCm39) I384V probably benign Het
Cyp3a13 T C 5: 137,917,257 (GRCm39) probably benign Het
Dlg5 A T 14: 24,222,271 (GRCm39) I480N possibly damaging Het
Exoc3l4 A G 12: 111,394,917 (GRCm39) K538R probably benign Het
Flna G T X: 73,272,106 (GRCm39) T2008K probably benign Het
Hc T A 2: 34,886,039 (GRCm39) Q1388L probably benign Het
Ifitm1 T C 7: 140,548,205 (GRCm39) S13P probably benign Het
Il1rapl2 A G X: 137,690,398 (GRCm39) I288V probably benign Het
Il31 C T 5: 123,618,553 (GRCm39) V157M possibly damaging Het
N4bp2l1 A G 5: 150,500,103 (GRCm39) probably null Het
Nell1 T C 7: 49,869,355 (GRCm39) I210T probably damaging Het
Or52b3 T C 7: 102,204,090 (GRCm39) Y200H probably damaging Het
Or7e176 T A 9: 20,171,784 (GRCm39) I216N possibly damaging Het
Phf10 G A 17: 15,165,411 (GRCm39) P482S probably benign Het
Ppp6r3 T G 19: 3,523,848 (GRCm39) M522L possibly damaging Het
Qtrt1 T C 9: 21,328,651 (GRCm39) L205P probably damaging Het
Vmn2r11 T C 5: 109,202,658 (GRCm39) I140V probably benign Het
Xylt2 C T 11: 94,557,171 (GRCm39) E107K possibly damaging Het
Zfp512b A T 2: 181,231,715 (GRCm39) F155Y possibly damaging Het
Zfyve27 A G 19: 42,174,296 (GRCm39) D314G probably damaging Het
Other mutations in Phf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00905:Phf1 APN 17 27,155,568 (GRCm39) missense possibly damaging 0.90
IGL01629:Phf1 APN 17 27,153,247 (GRCm39) missense probably benign 0.07
IGL01931:Phf1 APN 17 27,154,509 (GRCm39) unclassified probably benign
IGL02008:Phf1 APN 17 27,154,260 (GRCm39) missense possibly damaging 0.95
IGL02206:Phf1 APN 17 27,155,843 (GRCm39) unclassified probably benign
IGL02252:Phf1 APN 17 27,154,109 (GRCm39) missense possibly damaging 0.65
IGL02548:Phf1 APN 17 27,154,600 (GRCm39) missense probably damaging 1.00
IGL03145:Phf1 APN 17 27,153,344 (GRCm39) critical splice donor site probably null
R0539:Phf1 UTSW 17 27,153,432 (GRCm39) splice site probably null
R0815:Phf1 UTSW 17 27,156,114 (GRCm39) unclassified probably benign
R0863:Phf1 UTSW 17 27,156,114 (GRCm39) unclassified probably benign
R1028:Phf1 UTSW 17 27,153,307 (GRCm39) missense possibly damaging 0.90
R1083:Phf1 UTSW 17 27,156,244 (GRCm39) unclassified probably benign
R1537:Phf1 UTSW 17 27,154,372 (GRCm39) critical splice donor site probably null
R1587:Phf1 UTSW 17 27,156,466 (GRCm39) missense probably damaging 0.99
R1656:Phf1 UTSW 17 27,156,333 (GRCm39) missense possibly damaging 0.93
R1956:Phf1 UTSW 17 27,154,719 (GRCm39) splice site probably null
R2566:Phf1 UTSW 17 27,156,062 (GRCm39) missense probably damaging 1.00
R3196:Phf1 UTSW 17 27,153,429 (GRCm39) missense probably damaging 1.00
R4223:Phf1 UTSW 17 27,156,474 (GRCm39) nonsense probably null
R4835:Phf1 UTSW 17 27,153,652 (GRCm39) missense probably benign
R6439:Phf1 UTSW 17 27,155,586 (GRCm39) missense probably benign
R7070:Phf1 UTSW 17 27,153,307 (GRCm39) missense possibly damaging 0.90
R7289:Phf1 UTSW 17 27,154,289 (GRCm39) missense probably damaging 1.00
R7846:Phf1 UTSW 17 27,154,291 (GRCm39) nonsense probably null
R8165:Phf1 UTSW 17 27,156,044 (GRCm39) missense possibly damaging 0.95
R9645:Phf1 UTSW 17 27,154,130 (GRCm39) critical splice donor site probably null
X0028:Phf1 UTSW 17 27,155,162 (GRCm39) missense possibly damaging 0.95
Posted On 2014-05-07