Incidental Mutation 'R2447:Phf6'
ID 248913
Institutional Source Beutler Lab
Gene Symbol Phf6
Ensembl Gene ENSMUSG00000025626
Gene Name PHD finger protein 6
Synonyms 4931428F02Rik, 2700007B13Rik
Accession Numbers
Essential gene? Not available question?
Stock # R2447 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 52001143-52045820 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 52042435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Glutamic Acid at position 279 (Q279E)
Ref Sequence ENSEMBL: ENSMUSP00000130358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078944] [ENSMUST00000154864]
AlphaFold Q9D4J7
Predicted Effect probably benign
Transcript: ENSMUST00000078944
AA Change: Q359E

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000077971
Gene: ENSMUSG00000025626
AA Change: Q359E

DomainStartEndE-ValueType
PHD 81 132 2.9e-1 SMART
low complexity region 153 170 N/A INTRINSIC
PHD 279 330 2.39e-2 SMART
low complexity region 333 343 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154864
AA Change: Q279E

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000130358
Gene: ENSMUSG00000025626
AA Change: Q279E

DomainStartEndE-ValueType
PHD 1 52 2.9e-1 SMART
low complexity region 73 90 N/A INTRINSIC
PHD 199 250 2.39e-2 SMART
low complexity region 253 263 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by mental retardation, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Foxo3 T C 10: 42,073,816 (GRCm39) I15V probably benign Het
Gm12888 A T 4: 121,175,547 (GRCm39) D78E possibly damaging Het
Gm4952 T A 19: 12,595,770 (GRCm39) N53K possibly damaging Het
Hrg A T 16: 22,779,898 (GRCm39) probably benign Het
Mta3 C T 17: 84,111,973 (GRCm39) T567I probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Panx1 A G 9: 14,956,185 (GRCm39) I50T probably damaging Het
Pdcd11 T C 19: 47,102,995 (GRCm39) F1114L probably benign Het
Phip A G 9: 82,797,452 (GRCm39) V517A probably damaging Het
Psmb5 C T 14: 54,851,927 (GRCm39) V86I probably damaging Het
R3hdm1 T A 1: 128,114,666 (GRCm39) probably benign Het
Sfmbt1 A G 14: 30,495,850 (GRCm39) I44M possibly damaging Het
Tmem89 A T 9: 108,743,868 (GRCm39) D56V probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tshz3 T A 7: 36,468,178 (GRCm39) C56S probably benign Het
Ttn C A 2: 76,778,284 (GRCm39) A1322S probably damaging Het
Ubr3 C T 2: 69,833,724 (GRCm39) H188Y probably damaging Het
Other mutations in Phf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Phf6 APN X 52,020,523 (GRCm39) missense probably damaging 1.00
IGL00565:Phf6 APN X 52,020,516 (GRCm39) missense probably damaging 1.00
R2217:Phf6 UTSW X 52,031,525 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACCCAACATCCTCTGCTAGTAG -3'
(R):5'- TGGCTCTAAAACGGACCAGG -3'

Sequencing Primer
(F):5'- GTCTTTCATCATTGTAGACTCTA -3'
(R):5'- TGGCTCTAAAACGGACCAGGTAAAG -3'
Posted On 2014-11-12