Incidental Mutation 'R5357:Phf10'
ID 434560
Institutional Source Beutler Lab
Gene Symbol Phf10
Ensembl Gene ENSMUSG00000023883
Gene Name PHD finger protein 10
Synonyms 1810055P05Rik, Baf45a
MMRRC Submission 042936-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5357 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 15165271-15181535 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 15174275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000024657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024657] [ENSMUST00000168938]
AlphaFold no structure available at present
Predicted Effect probably null
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
  • 1x: 98.9%
  • 3x: 97.4%
  • 10x: 94.5%
  • 20x: 87.7%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik T C 4: 137,182,463 (GRCm39) V206A possibly damaging Het
5730522E02Rik A T 11: 25,598,148 (GRCm39) C102* probably null Het
Brsk2 C A 7: 141,538,248 (GRCm39) D131E possibly damaging Het
Cacng7 T C 7: 3,387,452 (GRCm39) F112L probably benign Het
Ceacam12 T A 7: 17,811,384 (GRCm39) C282* probably null Het
Dnm1 T C 2: 32,226,253 (GRCm39) D312G probably null Het
Dyrk1b T C 7: 27,884,743 (GRCm39) V326A possibly damaging Het
Eloa T C 4: 135,736,559 (GRCm39) D563G probably benign Het
Evi5l A G 8: 4,253,623 (GRCm39) K489R possibly damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Galntl6 T C 8: 58,337,497 (GRCm39) E326G probably damaging Het
Gm1758 G A 16: 14,320,218 (GRCm39) noncoding transcript Het
Grm8 A T 6: 27,762,418 (GRCm39) L269Q probably damaging Het
Hsd17b12 A G 2: 93,863,990 (GRCm39) I284T possibly damaging Het
Hyal6 T A 6: 24,734,517 (GRCm39) M150K probably benign Het
Ift80 T A 3: 68,898,113 (GRCm39) Q74L possibly damaging Het
Krt76 T C 15: 101,795,820 (GRCm39) K450R probably benign Het
Larp1b A G 3: 40,978,950 (GRCm39) E2G probably benign Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Map2k7 A T 8: 4,294,461 (GRCm39) H253L probably damaging Het
Melk C T 4: 44,363,730 (GRCm39) T592M probably damaging Het
Mmp2 A G 8: 93,559,780 (GRCm39) T248A possibly damaging Het
Mt1 T A 8: 94,906,732 (GRCm39) C33S probably damaging Het
Obox5 T A 7: 15,491,463 (GRCm39) M1K probably null Het
Pak4 A G 7: 28,263,831 (GRCm39) S302P probably damaging Het
Pcsk2 T C 2: 143,415,384 (GRCm39) Y66H probably benign Het
Pgm3 G A 9: 86,438,310 (GRCm39) R451* probably null Het
Pkd1 T G 17: 24,784,764 (GRCm39) V402G probably damaging Het
Plekha4 G T 7: 45,184,195 (GRCm39) V61F probably damaging Het
Ppfia2 G A 10: 106,740,708 (GRCm39) probably null Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Skil A G 3: 31,167,700 (GRCm39) H444R probably benign Het
Tcn2 T G 11: 3,876,017 (GRCm39) D137A possibly damaging Het
Tnks2 G A 19: 36,826,690 (GRCm39) silent Het
Trh T A 6: 92,219,815 (GRCm39) D167V probably benign Het
Tshz1 C T 18: 84,033,205 (GRCm39) G401D probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubqlnl T A 7: 103,798,138 (GRCm39) Q453L probably damaging Het
Vmn2r111 T A 17: 22,767,083 (GRCm39) K805* probably null Het
Wnt16 T G 6: 22,291,231 (GRCm39) probably benign Het
Zc3h11a A T 1: 133,550,780 (GRCm39) V665E probably damaging Het
Zfp456 A T 13: 67,520,328 (GRCm39) M63K possibly damaging Het
Zzef1 C T 11: 72,734,159 (GRCm39) Q584* probably null 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
R2159:Phf10 UTSW 17 15,172,926 (GRCm39) missense probably damaging 0.99
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
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'- TGCCACACAGAAAGCACTGG -3'
(R):5'- ACACATGGGGATTCTTTTCTTGAAG -3'

Sequencing Primer
(F):5'- CACAGAAAGCACTGGAGGCC -3'
(R):5'- TGAAGCCTTGATTCCCAGG -3'
Posted On 2016-10-06