Incidental Mutation 'IGL00467:Phf6'
ID277523
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phf6
Ensembl Gene ENSMUSG00000025626
Gene NamePHD finger protein 6
Synonyms2700007B13Rik, 4931428F02Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00467
Quality Score
Status
ChromosomeX
Chromosomal Location52912266-52956943 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 52931646 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 25 (Y25C)
Ref Sequence ENSEMBL: ENSMUSP00000130358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078944] [ENSMUST00000101587] [ENSMUST00000154864]
Predicted Effect probably damaging
Transcript: ENSMUST00000078944
AA Change: Y105C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077971
Gene: ENSMUSG00000025626
AA Change: Y105C

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 damaging
Transcript: ENSMUST00000101587
AA Change: Y105C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110497
Gene: ENSMUSG00000025626
AA Change: Y105C

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: Y25C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130358
Gene: ENSMUSG00000025626
AA Change: Y25C

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,145,670 probably benign Het
Acvrl1 C A 15: 101,143,340 probably null Het
Ahnak T A 19: 9,007,223 M1957K probably damaging Het
Brinp3 A G 1: 146,901,774 D653G probably damaging Het
Dcstamp T A 15: 39,754,416 C74S probably benign Het
Esrrg A G 1: 188,210,910 E360G probably damaging Het
Fam13a C T 6: 58,940,113 probably benign Het
Fam208a A G 14: 27,448,164 N350S probably benign Het
Glipr1l1 A G 10: 112,078,381 T216A probably benign Het
Lama2 T A 10: 27,467,197 probably benign Het
Men1 G A 19: 6,337,207 probably null Het
Mta3 T A 17: 83,755,684 probably benign Het
Nfu1 A G 6: 87,020,773 M213V possibly damaging Het
Pam A T 1: 97,924,427 probably benign Het
Pcca A T 14: 122,582,629 M62L probably benign Het
Phlpp2 C T 8: 109,925,790 H589Y probably benign Het
Ppp1r13b A G 12: 111,829,370 I956T probably damaging Het
Prkcd G A 14: 30,602,422 probably benign Het
Rapgef4 A T 2: 72,256,312 N973I possibly damaging Het
Rnf20 G T 4: 49,655,480 E905* probably null Het
Slc26a6 T A 9: 108,855,889 D22E probably benign Het
Sp2 C T 11: 96,954,561 R578H probably damaging Het
Taf6l A T 19: 8,783,388 N57K probably benign Het
Tas2r109 C A 6: 132,980,023 V315L probably benign Het
Tex9 T C 9: 72,477,835 T240A probably benign Het
Trank1 G A 9: 111,364,666 probably benign Het
Trim30c A T 7: 104,382,182 Y475* probably null Het
Trim60 T C 8: 65,000,719 T293A possibly damaging Het
Ttc21b T C 2: 66,188,364 Y1233C probably damaging Het
Wdr75 A G 1: 45,802,075 I106V probably benign Het
Zkscan16 T C 4: 58,957,709 S664P possibly damaging Het
Other mutations in Phf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:Phf6 APN X 52931639 missense probably damaging 1.00
R2217:Phf6 UTSW X 52942648 missense probably damaging 0.99
R2447:Phf6 UTSW X 52953558 missense probably benign 0.07
Posted On2015-04-16