Incidental Mutation 'R7846:Phf1'
ID 606649
Institutional Source Beutler Lab
Gene Symbol Phf1
Ensembl Gene ENSMUSG00000024193
Gene Name PHD finger protein 1
Synonyms PHF2, Tctex3, Tctex-3, D17Ertd455e, mPcl1
MMRRC Submission 045900-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7846 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 27152101-27156882 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 27154291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 169 (Y169*)
Ref Sequence ENSEMBL: ENSMUSP00000073402 (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 null
Transcript: ENSMUST00000073724
AA Change: Y169*
SMART Domains Protein: ENSMUSP00000073402
Gene: ENSMUSG00000024193
AA Change: Y169*

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas1 A G 5: 100,954,698 (GRCm39) V247A probably damaging Het
Acot13 G T 13: 25,002,133 (GRCm39) T103K probably damaging Het
Acsl6 A T 11: 54,251,901 (GRCm39) I683F probably damaging Het
Acss2 A T 2: 155,402,953 (GRCm39) H577L probably damaging Het
Ahctf1 A T 1: 179,614,638 (GRCm39) V382D probably damaging Het
Aldob T C 4: 49,538,858 (GRCm39) H220R probably damaging Het
Ankrd1 C T 19: 36,094,218 (GRCm39) V169M probably damaging Het
Atp5f1a G A 18: 77,869,015 (GRCm39) R413H possibly damaging Het
Cep76 A G 18: 67,762,975 (GRCm39) F283L probably damaging Het
Chrna5 A T 9: 54,912,391 (GRCm39) D397V probably benign Het
Coro7 T C 16: 4,488,400 (GRCm39) D90G probably damaging Het
Csnk1g3 A G 18: 54,081,177 (GRCm39) N383D probably benign Het
Cwf19l2 C A 9: 3,477,889 (GRCm39) Q865K probably damaging Het
Cyth2 C A 7: 45,460,378 (GRCm39) W149C probably damaging Het
Dgkh C A 14: 78,856,026 (GRCm39) R349L probably damaging Het
Dnajc1 G T 2: 18,224,704 (GRCm39) T383N possibly damaging Het
Efcab3 T A 11: 104,605,571 (GRCm39) probably null Het
Extl3 A T 14: 65,313,181 (GRCm39) M667K probably damaging Het
Fam149a G T 8: 45,811,678 (GRCm39) A75E Het
Fgd4 T G 16: 16,240,590 (GRCm39) Q713P probably damaging Het
Frat2 T A 19: 41,836,215 (GRCm39) I46F probably damaging Het
Gzmc A G 14: 56,469,017 (GRCm39) V234A probably damaging Het
H2-Q4 A G 17: 35,599,134 (GRCm39) N135D probably damaging Het
Ighv1-85 A T 12: 115,963,937 (GRCm39) V21D possibly damaging Het
Itprid1 A G 6: 55,955,320 (GRCm39) Q976R possibly damaging Het
Kcna6 A T 6: 126,715,983 (GRCm39) V302E probably damaging Het
Kdm3b G T 18: 34,942,293 (GRCm39) V795L possibly damaging Het
Kdm5b G A 1: 134,545,578 (GRCm39) R913H probably damaging Het
Lpp T A 16: 24,426,876 (GRCm39) M1K probably null Het
Med12l T C 3: 59,172,355 (GRCm39) S1704P probably damaging Het
Mfsd10 G T 5: 34,793,456 (GRCm39) S95* probably null Het
Napepld C T 5: 21,880,721 (GRCm39) E225K probably benign Het
Ndfip2 T C 14: 105,535,448 (GRCm39) F245L probably damaging Het
Oaf G A 9: 43,134,077 (GRCm39) R215C probably damaging Het
Or10k2 A G 8: 84,268,526 (GRCm39) H251R probably damaging Het
Or13a20 C T 7: 140,232,374 (GRCm39) H161Y probably damaging Het
Or51i1 A G 7: 103,670,736 (GRCm39) I263T possibly damaging Het
Or52z15 A G 7: 103,332,407 (GRCm39) I161V probably benign Het
Or5p6 A G 7: 107,631,199 (GRCm39) I117T probably benign Het
Or8b47 A G 9: 38,435,675 (GRCm39) T216A probably benign Het
Pcdhgb2 A T 18: 37,825,273 (GRCm39) I755F possibly damaging Het
Pde4dip A G 3: 97,622,490 (GRCm39) L1573P probably damaging Het
Peg3 A T 7: 6,713,650 (GRCm39) V524E probably damaging Het
Phc1 G T 6: 122,310,329 (GRCm39) T126N probably damaging Het
Pramel25 A T 4: 143,520,563 (GRCm39) D269V probably benign Het
Prl3a1 G A 13: 27,456,442 (GRCm39) E99K probably damaging Het
Prss57 G A 10: 79,623,213 (GRCm39) A78V probably damaging Het
Ptprb A T 10: 116,119,453 (GRCm39) T196S probably benign Het
Rgsl1 A T 1: 153,701,783 (GRCm39) C224S possibly damaging Het
Rtn4 T C 11: 29,643,274 (GRCm39) V29A unknown Het
Selplg G A 5: 113,957,481 (GRCm39) T275M probably damaging Het
Skint11 C T 4: 114,102,076 (GRCm39) T363I possibly damaging Het
Slc22a29 T A 19: 8,170,851 (GRCm39) I289F probably benign Het
Slc26a2 A G 18: 61,331,776 (GRCm39) S552P probably benign Het
Sptb T A 12: 76,655,300 (GRCm39) K1480* probably null Het
Sptbn1 C A 11: 30,092,153 (GRCm39) M537I probably damaging Het
Sqor A T 2: 122,627,008 (GRCm39) H43L probably benign Het
Srcin1 C A 11: 97,416,926 (GRCm39) E913* probably null Het
Srgap1 A G 10: 121,621,397 (GRCm39) L1032P probably damaging Het
Stc2 T C 11: 31,315,413 (GRCm39) K142R probably benign Het
Stox1 A C 10: 62,495,305 (GRCm39) N989K probably damaging Het
Tert T A 13: 73,776,314 (GRCm39) L355H probably damaging Het
Tfb2m A G 1: 179,358,926 (GRCm39) F319S probably damaging Het
Trps1 A G 15: 50,695,273 (GRCm39) F341L probably damaging Het
Ttk T C 9: 83,725,732 (GRCm39) V218A probably benign Het
Vmn1r159 A G 7: 22,542,696 (GRCm39) I112T probably benign Het
Vps8 C A 16: 21,351,070 (GRCm39) Q916K probably benign Het
Wdr12 A T 1: 60,121,225 (GRCm39) D364E probably damaging Het
Ylpm1 A G 12: 85,104,042 (GRCm39) E2019G probably damaging Het
Zfp267 C A 3: 36,219,738 (GRCm39) T587N probably benign Het
Zfp507 A G 7: 35,493,963 (GRCm39) L360P 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
IGL02048:Phf1 APN 17 27,153,515 (GRCm39) unclassified probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CACTAAGGTAAAGGTGCCTCTC -3'
(R):5'- GCAGCATTTTCAGGTTCCAC -3'

Sequencing Primer
(F):5'- GTAAAGGTGCCTCTCTGCCC -3'
(R):5'- GCCTTCTTGAAACCACAGGG -3'
Posted On 2019-12-20