Incidental Mutation 'IGL01752:Phf10'
ID153413
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phf10
Ensembl Gene ENSMUSG00000023883
Gene NamePHD finger protein 10
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01752
Quality Score
Status
Chromosome17
Chromosomal Location14945009-14961273 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 14954950 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024657] [ENSMUST00000168938]
Predicted Effect probably benign
Transcript: ENSMUST00000024657
SMART Domains Protein: ENSMUSP00000024657
Gene: ENSMUSG00000023883

DomainStartEndE-ValueType
low complexity region 2 9 N/A INTRINSIC
low complexity region 44 55 N/A INTRINSIC
low complexity region 200 207 N/A INTRINSIC
low complexity region 281 310 N/A INTRINSIC
PHD 378 433 1.22e-8 SMART
PHD 434 478 2.44e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167805
Predicted Effect probably benign
Transcript: ENSMUST00000168938
SMART Domains Protein: ENSMUSP00000125917
Gene: ENSMUSG00000023883

DomainStartEndE-ValueType
low complexity region 2 9 N/A INTRINSIC
low complexity region 44 55 N/A INTRINSIC
low complexity region 200 207 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174163
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 contains a predicted ORF that encodes a protein with two zinc finger domains. The function of the encoded protein is not known. Sequence analysis suggests that multiple alternatively spliced transcript variants are derived from this gene but the full-length nature of only two of them is known. These two splice variants encode different isoforms. A pseudogene for this gene is located on Xq28. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a floxed allele are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A T 14: 78,509,878 probably null Het
Btbd11 C A 10: 85,654,502 Q1011K probably damaging Het
Cdh4 A T 2: 179,890,884 N713I probably damaging Het
Cdkl4 T A 17: 80,543,614 probably benign Het
Ddx21 A G 10: 62,587,507 S639P probably damaging Het
Dock3 T C 9: 107,025,313 probably benign Het
Fan1 G A 7: 64,372,794 T237M probably benign Het
Fbn2 T A 18: 58,075,977 probably null Het
Fhad1 T C 4: 141,972,899 K347E possibly damaging Het
Gucy2c C A 6: 136,770,108 A118S probably benign Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Lox A G 18: 52,520,854 V390A possibly damaging Het
Lyn A T 4: 3,743,286 M69L probably benign Het
Mrgprb5 A G 7: 48,168,667 F107L probably benign Het
Neurod2 T C 11: 98,327,375 E321G possibly damaging Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Pcnx3 T A 19: 5,665,337 K1962* probably null Het
Pde3a T C 6: 141,487,613 probably benign Het
Prune2 A G 19: 17,123,903 E2257G possibly damaging Het
Rock1 A G 18: 10,079,113 probably null Het
Slc4a11 T G 2: 130,688,145 T238P probably damaging Het
Ssu2 T A 6: 112,375,592 K279N probably damaging Het
Tead3 A T 17: 28,333,594 I275N probably damaging Het
Ttn T C 2: 76,744,793 E25252G probably damaging Het
Twsg1 T C 17: 65,929,784 T84A probably benign Het
Ugt3a1 A T 15: 9,306,146 K127M probably damaging Het
Unc13c A T 9: 73,931,811 M586K probably benign Het
Vmn1r195 G T 13: 22,279,251 C297F probably benign Het
Vps13c T A 9: 67,948,228 I2525N probably damaging Het
Zdhhc2 G A 8: 40,473,001 A346T probably benign Het
Zfp52 T G 17: 21,560,150 C87G probably benign Het
Other mutations in Phf10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01418:Phf10 APN 17 14945134 missense probably benign 0.01
IGL02048:Phf10 APN 17 14945149 missense probably benign 0.00
IGL02334:Phf10 APN 17 14954099 missense probably damaging 0.99
IGL03177:Phf10 APN 17 14946231 missense probably damaging 1.00
R1562:Phf10 UTSW 17 14946250 missense probably damaging 1.00
R1913:Phf10 UTSW 17 14956809 missense probably benign 0.00
R2159:Phf10 UTSW 17 14952664 missense probably damaging 0.99
R4468:Phf10 UTSW 17 14952775 critical splice acceptor site probably null
R4498:Phf10 UTSW 17 14945115 missense probably benign 0.17
R5357:Phf10 UTSW 17 14954013 critical splice donor site probably null
R5865:Phf10 UTSW 17 14955010 intron probably benign
R6105:Phf10 UTSW 17 14954125 critical splice acceptor site probably null
R6522:Phf10 UTSW 17 14956007 missense probably damaging 1.00
R6663:Phf10 UTSW 17 14959512 missense probably null 0.05
R7203:Phf10 UTSW 17 14946313 missense probably damaging 1.00
R8018:Phf10 UTSW 17 14954116 missense possibly damaging 0.48
Posted On2014-02-04