Incidental Mutation 'IGL00565:Phf6'
ID 5646
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phf6
Ensembl Gene ENSMUSG00000025626
Gene Name PHD finger protein 6
Synonyms 4931428F02Rik, 2700007B13Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL00565
Quality Score
Status
Chromosome X
Chromosomal Location 52001143-52045820 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52020516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 103 (Y103N)
Ref Sequence ENSEMBL: ENSMUSP00000077971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078944] [ENSMUST00000101587] [ENSMUST00000154864]
AlphaFold Q9D4J7
Predicted Effect probably damaging
Transcript: ENSMUST00000078944
AA Change: Y103N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077971
Gene: ENSMUSG00000025626
AA Change: Y103N

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 possibly damaging
Transcript: ENSMUST00000101587
AA Change: Y103N

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110497
Gene: ENSMUSG00000025626
AA Change: Y103N

DomainStartEndE-ValueType
PHD 81 132 2.9e-1 SMART
low complexity region 153 170 N/A INTRINSIC
PHD 279 314 1.49e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000154864
AA Change: Y23N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000130358
Gene: ENSMUSG00000025626
AA Change: Y23N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177780
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179014
Coding Region Coverage
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C A 7: 41,274,996 (GRCm39) T233K possibly damaging Het
Adamts9 A T 6: 92,836,883 (GRCm39) M623K possibly damaging Het
Arid1a T G 4: 133,412,793 (GRCm39) D1467A unknown Het
Cdhr2 A G 13: 54,866,112 (GRCm39) D304G probably damaging Het
Cenpj C T 14: 56,790,487 (GRCm39) V521I probably benign Het
Ciao2a A T 9: 66,039,898 (GRCm39) I72L probably benign Het
Csf2rb G T 15: 78,232,714 (GRCm39) E674* probably null Het
Dnai3 T C 3: 145,750,674 (GRCm39) probably benign Het
Edaradd C T 13: 12,498,480 (GRCm39) probably null Het
Emilin2 A G 17: 71,559,854 (GRCm39) V1041A possibly damaging Het
Fam135b A G 15: 71,343,361 (GRCm39) V418A probably benign Het
Gnas T A 2: 174,183,504 (GRCm39) probably benign Het
Grxcr1 A T 5: 68,189,540 (GRCm39) N104Y possibly damaging Het
Gtf2a1l T A 17: 89,001,723 (GRCm39) L146Q probably damaging Het
Hectd1 T A 12: 51,837,181 (GRCm39) E791D probably damaging Het
Ifi203 A G 1: 173,765,306 (GRCm39) probably null Het
Klk1b11 A G 7: 43,649,243 (GRCm39) N260S probably damaging Het
LTO1 G T 7: 144,470,220 (GRCm39) V50F probably damaging Het
Map4 A T 9: 109,901,672 (GRCm39) probably benign Het
Marveld2 C T 13: 100,737,401 (GRCm39) V163M possibly damaging Het
Med14 T C X: 12,613,003 (GRCm39) probably benign Het
Mex3b A T 7: 82,518,116 (GRCm39) I144F probably damaging Het
Pde2a T A 7: 101,133,796 (GRCm39) C92* probably null Het
Ptprt A G 2: 161,402,111 (GRCm39) I1039T probably damaging Het
Rftn2 C A 1: 55,243,444 (GRCm39) V275F probably damaging Het
Skap1 C A 11: 96,621,971 (GRCm39) Q296K probably damaging Het
Skap1 T A 11: 96,622,016 (GRCm39) F311I probably damaging Het
Tas2r115 A G 6: 132,714,741 (GRCm39) I70T probably benign Het
Vav2 T C 2: 27,167,250 (GRCm39) D613G probably benign Het
Zranb3 T C 1: 127,943,877 (GRCm39) E290G probably benign Het
Other mutations in Phf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Phf6 APN X 52,020,523 (GRCm39) missense probably damaging 1.00
R2217:Phf6 UTSW X 52,031,525 (GRCm39) missense probably damaging 0.99
R2447:Phf6 UTSW X 52,042,435 (GRCm39) missense probably benign 0.07
Posted On 2012-04-20