Incidental Mutation 'R2159:Phf10'
ID 235079
Institutional Source Beutler Lab
Gene Symbol Phf10
Ensembl Gene ENSMUSG00000023883
Gene Name PHD finger protein 10
Synonyms 1810055P05Rik, Baf45a
MMRRC Submission 040162-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2159 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 15165271-15181535 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 15172926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 304 (E304K)
Ref Sequence ENSEMBL: ENSMUSP00000024657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024657] [ENSMUST00000168938]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000024657
AA Change: E304K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024657
Gene: ENSMUSG00000023883
AA Change: E304K

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 G A 12: 81,607,241 (GRCm39) P174S probably benign Het
Aida C T 1: 183,103,234 (GRCm39) P185S probably benign Het
Alg11 T G 8: 22,555,861 (GRCm39) I374R probably benign Het
Ano9 T C 7: 140,688,030 (GRCm39) I229V probably benign Het
Apob A T 12: 8,060,081 (GRCm39) L2821F probably benign Het
Atp10b C T 11: 43,042,680 (GRCm39) T80I possibly damaging Het
BC024139 T C 15: 76,005,688 (GRCm39) H478R probably damaging Het
Btbd1 A T 7: 81,450,804 (GRCm39) D325E possibly damaging Het
Camk2a G A 18: 61,090,257 (GRCm39) C199Y probably damaging Het
Casp3 A G 8: 47,087,323 (GRCm39) D90G probably damaging Het
Ccnt2 A G 1: 127,702,891 (GRCm39) H71R probably benign Het
Cdk2ap1 G A 5: 124,486,667 (GRCm39) R65* probably null Het
Cebpb G T 2: 167,531,173 (GRCm39) A78S probably benign Het
Col5a3 A G 9: 20,682,606 (GRCm39) F1613L unknown Het
Cpd T C 11: 76,688,467 (GRCm39) D935G probably damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cwc27 A G 13: 104,940,837 (GRCm39) I174T probably damaging Het
Cyp21a1 C A 17: 35,021,378 (GRCm39) R331L probably benign Het
Dnah5 A G 15: 28,252,691 (GRCm39) T795A probably benign Het
Eif2ak2 A G 17: 79,181,447 (GRCm39) V100A possibly damaging Het
Foxa3 A G 7: 18,748,109 (GRCm39) V339A probably benign Het
Gp2 T C 7: 119,051,507 (GRCm39) D236G probably benign Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Gzmd T A 14: 56,368,153 (GRCm39) H102L probably damaging Het
Klk1b1 A T 7: 43,619,857 (GRCm39) I139F probably damaging Het
Lcmt2 G A 2: 120,969,766 (GRCm39) P439L probably damaging Het
Loxl4 C T 19: 42,588,446 (GRCm39) A570T probably damaging Het
Mga T A 2: 119,750,124 (GRCm39) H674Q probably damaging Het
Mybpc3 A T 2: 90,955,715 (GRCm39) K583M probably damaging Het
Ncoa6 G T 2: 155,249,633 (GRCm39) P1224T probably damaging Het
Nostrin A G 2: 69,011,266 (GRCm39) probably null Het
Or13e8 T C 4: 43,697,110 (GRCm39) H21R probably benign Het
Or4c3 A T 2: 89,851,882 (GRCm39) V176E probably damaging Het
Oxsr1 A C 9: 119,133,880 (GRCm39) D58E possibly damaging Het
Parm1 A G 5: 91,760,923 (GRCm39) Y265C probably damaging Het
Prmt5 T C 14: 54,752,795 (GRCm39) T139A probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Ptp4a3 A G 15: 73,623,865 (GRCm39) T32A probably benign Het
Pwwp2b A T 7: 138,834,844 (GRCm39) D95V possibly damaging Het
Rad51ap2 T C 12: 11,507,752 (GRCm39) L558S possibly damaging Het
Rapgef4 A G 2: 72,005,225 (GRCm39) D80G probably damaging Het
Sec24a T G 11: 51,603,177 (GRCm39) H757P probably damaging Het
Sema4d T C 13: 51,874,571 (GRCm39) N129D probably damaging Het
Serpini1 A G 3: 75,531,251 (GRCm39) T323A probably benign Het
Setd1a G A 7: 127,384,661 (GRCm39) R504H possibly damaging Het
Sftpb T C 6: 72,286,770 (GRCm39) C226R probably damaging Het
Sp8 T C 12: 118,812,441 (GRCm39) S99P possibly damaging Het
Srgap3 A G 6: 112,748,339 (GRCm39) F438L probably damaging Het
Stim2 T C 5: 54,267,156 (GRCm39) Y365H probably damaging Het
Stk36 A G 1: 74,673,896 (GRCm39) Q1263R probably benign Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Troap G T 15: 98,975,467 (GRCm39) A184S probably damaging Het
Ttn G A 2: 76,729,671 (GRCm39) probably benign Het
Vmn2r108 C A 17: 20,689,363 (GRCm39) A531S probably benign Het
Vmn2r12 T A 5: 109,239,340 (GRCm39) I408F probably benign Het
Vmn2r8 T A 5: 108,950,169 (GRCm39) E226V probably benign Het
Vmo1 A G 11: 70,404,608 (GRCm39) F131S probably benign Het
Vwf T C 6: 125,603,304 (GRCm39) F885L probably damaging Het
Wdpcp A T 11: 21,807,476 (GRCm39) M618L probably benign Het
Wdr90 T C 17: 26,070,715 (GRCm39) E1072G probably benign Het
Other mutations in Phf10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01418:Phf10 APN 17 15,165,396 (GRCm39) missense probably benign 0.01
IGL01752:Phf10 APN 17 15,175,212 (GRCm39) splice site probably benign
IGL02048:Phf10 APN 17 15,165,411 (GRCm39) missense probably benign 0.00
IGL02334:Phf10 APN 17 15,174,361 (GRCm39) missense probably damaging 0.99
IGL03177:Phf10 APN 17 15,166,493 (GRCm39) missense probably damaging 1.00
R1562:Phf10 UTSW 17 15,166,512 (GRCm39) missense probably damaging 1.00
R1913:Phf10 UTSW 17 15,177,071 (GRCm39) missense probably benign 0.00
R4468:Phf10 UTSW 17 15,173,037 (GRCm39) critical splice acceptor site probably null
R4498:Phf10 UTSW 17 15,165,377 (GRCm39) missense probably benign 0.17
R5357:Phf10 UTSW 17 15,174,275 (GRCm39) critical splice donor site probably null
R5865:Phf10 UTSW 17 15,175,272 (GRCm39) intron probably benign
R6105:Phf10 UTSW 17 15,174,387 (GRCm39) critical splice acceptor site probably null
R6522:Phf10 UTSW 17 15,176,269 (GRCm39) missense probably damaging 1.00
R6663:Phf10 UTSW 17 15,179,774 (GRCm39) missense probably null 0.05
R7203:Phf10 UTSW 17 15,166,575 (GRCm39) missense probably damaging 1.00
R8018:Phf10 UTSW 17 15,174,378 (GRCm39) missense possibly damaging 0.48
R8673:Phf10 UTSW 17 15,170,868 (GRCm39) missense probably benign 0.27
R8708:Phf10 UTSW 17 15,176,261 (GRCm39) missense possibly damaging 0.56
R8998:Phf10 UTSW 17 15,170,883 (GRCm39) missense probably benign 0.00
R9044:Phf10 UTSW 17 15,166,584 (GRCm39) missense probably damaging 1.00
R9046:Phf10 UTSW 17 15,175,160 (GRCm39) missense probably damaging 0.96
R9103:Phf10 UTSW 17 15,174,382 (GRCm39) missense probably damaging 0.99
R9435:Phf10 UTSW 17 15,165,387 (GRCm39) missense probably benign 0.19
R9533:Phf10 UTSW 17 15,175,366 (GRCm39) missense probably damaging 1.00
R9547:Phf10 UTSW 17 15,166,459 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ATCTGCATAAACAGCATGTTGGG -3'
(R):5'- CCCATTTGTGTGAAGTATATGTGAGAG -3'

Sequencing Primer
(F):5'- TGCATAAACAGCATGTTGGGTAGAAG -3'
(R):5'- TGAAGTATATGTGAGAGGCATAAAGC -3'
Posted On 2014-10-01