Incidental Mutation 'IGL01931:Phf1'
ID180448
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phf1
Ensembl Gene ENSMUSG00000024193
Gene NamePHD finger protein 1
SynonymsTctex3, Tctex-3, D17Ertd455e, mPcl1, PHF2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01931
Quality Score
Status
Chromosome17
Chromosomal Location26933127-26937890 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 26935535 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025027] [ENSMUST00000073724] [ENSMUST00000078961] [ENSMUST00000114935]
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533L02Rik A G 7: 125,318,697 E87G unknown Het
Ano2 A G 6: 125,982,745 Y656C probably damaging Het
Cckbr T C 7: 105,426,103 S27P probably benign Het
Celsr1 T A 15: 85,907,660 N2580I probably damaging Het
Cfap221 A G 1: 119,932,895 L667P probably damaging Het
Col16a1 T C 4: 130,072,841 C555R possibly damaging Het
Dync2h1 A G 9: 7,114,973 V162A probably damaging Het
Dync2h1 G A 9: 7,011,207 S3669L probably benign Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm4922 A G 10: 18,784,294 S227P probably benign Het
Grin2c A G 11: 115,253,910 F597L probably damaging Het
Hook3 G A 8: 26,088,055 probably benign Het
Ltv1 A G 10: 13,185,501 I106T probably damaging Het
Mdc1 T C 17: 35,848,231 V501A probably benign Het
Myo15 T A 11: 60,496,138 C667S probably damaging Het
Myom3 T C 4: 135,789,639 V840A probably benign Het
Naip1 G T 13: 100,409,032 C1329* probably null Het
Oas1c A C 5: 120,805,495 I193S probably benign Het
Osbp2 C T 11: 3,705,388 probably null Het
Pisd C A 5: 32,739,132 probably null Het
Ppox T C 1: 171,277,883 Q302R probably null Het
Sec24b G A 3: 130,009,799 P305S probably benign Het
Spink5 A T 18: 44,015,638 I923F probably benign Het
Thsd7a A T 6: 12,504,099 V352E probably damaging Het
Tpi1 A G 6: 124,812,640 V152A possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdfy4 C T 14: 33,155,753 G85S probably damaging Het
Wnk4 A G 11: 101,268,484 T139A possibly damaging Het
Zfp345 T C 2: 150,473,350 H89R probably benign Het
Other mutations in Phf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00905:Phf1 APN 17 26936594 missense possibly damaging 0.90
IGL01629:Phf1 APN 17 26934273 missense probably benign 0.07
IGL02008:Phf1 APN 17 26935286 missense possibly damaging 0.95
IGL02048:Phf1 APN 17 26934541 unclassified probably benign
IGL02206:Phf1 APN 17 26936869 unclassified probably benign
IGL02252:Phf1 APN 17 26935135 missense possibly damaging 0.65
IGL02548:Phf1 APN 17 26935626 missense probably damaging 1.00
IGL03145:Phf1 APN 17 26934370 critical splice donor site probably null
R0539:Phf1 UTSW 17 26934458 unclassified probably null
R0815:Phf1 UTSW 17 26937140 unclassified probably benign
R0863:Phf1 UTSW 17 26937140 unclassified probably benign
R1028:Phf1 UTSW 17 26934333 missense possibly damaging 0.90
R1083:Phf1 UTSW 17 26937270 unclassified probably benign
R1537:Phf1 UTSW 17 26935398 critical splice donor site probably null
R1587:Phf1 UTSW 17 26937492 missense probably damaging 0.99
R1656:Phf1 UTSW 17 26937359 missense possibly damaging 0.93
R1956:Phf1 UTSW 17 26935745 splice site probably null
R2566:Phf1 UTSW 17 26937088 missense probably damaging 1.00
R3196:Phf1 UTSW 17 26934455 missense probably damaging 1.00
R4223:Phf1 UTSW 17 26937500 nonsense probably null
R4835:Phf1 UTSW 17 26934678 missense probably benign
R6439:Phf1 UTSW 17 26936612 missense probably benign
R7070:Phf1 UTSW 17 26934333 missense possibly damaging 0.90
R7289:Phf1 UTSW 17 26935315 missense probably damaging 1.00
X0028:Phf1 UTSW 17 26936188 missense possibly damaging 0.95
Posted On2014-05-07