Incidental Mutation 'IGL02008:Phf1'
ID183265
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 #IGL02008
Quality Score
Status
Chromosome17
Chromosomal Location26933127-26937890 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 26935286 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 159 (A159V)
Ref Sequence ENSEMBL: ENSMUSP00000073402 (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 possibly damaging
Transcript: ENSMUST00000073724
AA Change: A159V

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000073402
Gene: ENSMUSG00000024193
AA Change: A159V

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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 122,176,101 T2252A probably benign Het
Abcc2 C T 19: 43,821,750 probably benign Het
Abcf1 T C 17: 35,962,062 E231G probably benign Het
Astn2 T C 4: 66,059,153 Y379C probably damaging Het
Atp8b1 G T 18: 64,538,695 probably benign Het
Atr T A 9: 95,881,420 probably benign Het
Bdp1 A G 13: 100,023,827 S2349P possibly damaging Het
Bmp2 T C 2: 133,560,966 S146P probably damaging Het
Cacna1c T C 6: 118,715,924 S218G probably null Het
Cand2 T C 6: 115,803,638 V1161A probably damaging Het
Clec16a T C 16: 10,580,960 V330A probably damaging Het
Cpsf1 A T 15: 76,603,091 V161D probably damaging Het
Ctsh A G 9: 90,061,547 Y75C probably damaging Het
Cyp26c1 C A 19: 37,688,923 L267M probably damaging Het
Cyp26c1 T A 19: 37,688,924 L267Q probably damaging Het
Cyp2c50 G A 19: 40,091,099 W212* probably null Het
Dnah5 T A 15: 28,343,552 M2366K probably damaging Het
Ermp1 A G 19: 29,612,920 M794T probably damaging Het
F11 G T 8: 45,250,095 S186Y probably damaging Het
Fam184b A T 5: 45,532,823 F815I possibly damaging Het
Fezf2 T C 14: 12,343,705 I347V probably benign Het
Fip1l1 C T 5: 74,545,423 T114I possibly damaging Het
Gbp7 A C 3: 142,546,450 D598A probably benign Het
Gm1110 T A 9: 26,883,230 D500V probably benign Het
Gm1840 A T 8: 5,639,896 noncoding transcript Het
Gm3248 T A 14: 5,943,928 M99L probably benign Het
Gm906 G A 13: 50,246,685 P535L probably benign Het
Hspa9 G A 18: 34,947,975 R218* probably null Het
Ikbip G A 10: 91,093,257 probably null Het
Kcnb2 C T 1: 15,710,809 T635M probably benign Het
Krtap29-1 T A 11: 99,978,279 I259F possibly damaging Het
Lnpep T C 17: 17,570,957 T442A probably benign Het
Mgat1 T A 11: 49,260,735 I15N probably damaging Het
Nlrp9c A T 7: 26,385,151 S334R probably benign Het
Notch2 A T 3: 98,147,296 D2425V probably damaging Het
Ntn1 C T 11: 68,213,263 V520M probably damaging Het
Olfr1089 A C 2: 86,733,177 I145R possibly damaging Het
Olfr1167 A T 2: 88,149,578 V147E probably damaging Het
Olfr1179 T A 2: 88,402,077 T286S possibly damaging Het
Olfr149 A G 9: 39,702,253 V172A probably damaging Het
Olfr803 T A 10: 129,692,018 T8S probably benign Het
Olfr972 A T 9: 39,873,485 D70V probably damaging Het
Osr2 A G 15: 35,301,992 H246R probably damaging Het
Papolg T C 11: 23,879,898 R224G probably damaging Het
Pax6 T A 2: 105,692,278 probably null Het
Pcyox1 A G 6: 86,392,268 V192A probably benign Het
Ppfia4 G A 1: 134,332,391 R45W probably damaging Het
Psmb9 T A 17: 34,183,679 K109M probably damaging Het
Ptprt T A 2: 161,927,673 Y424F probably benign Het
Ptrh2 A G 11: 86,689,766 I70V probably benign Het
Rnf213 G A 11: 119,418,309 probably benign Het
Rom1 T A 19: 8,928,004 I271F probably benign Het
Satb2 T A 1: 56,796,793 D731V possibly damaging Het
Serpinb7 G T 1: 107,448,129 G159V possibly damaging Het
Slit1 T C 19: 41,646,140 I393V probably damaging Het
Spata20 T A 11: 94,483,463 D327V probably damaging Het
Tbc1d32 G T 10: 56,151,775 Q744K possibly damaging Het
Thegl A T 5: 77,060,758 I378L probably benign Het
Tmem108 G T 9: 103,489,240 N517K possibly damaging Het
Trp63 T A 16: 25,862,461 N160K probably damaging Het
Ttll5 T C 12: 85,933,611 S119P probably damaging Het
Ubqln3 T A 7: 104,142,316 Q189L probably damaging Het
Vwa5a G A 9: 38,737,776 R638H probably benign Het
Wdr3 A G 3: 100,150,982 S436P probably damaging Het
Zfp975 A T 7: 42,662,791 C133S probably damaging Het
Zfp976 A T 7: 42,614,232 probably benign Het
Zmiz1 A G 14: 25,656,879 M860V probably damaging Het
Zscan4d T C 7: 11,162,369 E358G 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
IGL01931:Phf1 APN 17 26935535 unclassified probably benign
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