Incidental Mutation 'R8673:Phf10'
ID 661278
Institutional Source Beutler Lab
Gene Symbol Phf10
Ensembl Gene ENSMUSG00000023883
Gene Name PHD finger protein 10
Synonyms 1810055P05Rik, Baf45a
MMRRC Submission 068528-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8673 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 15165271-15181535 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15170868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 355 (D355G)
Ref Sequence ENSEMBL: ENSMUSP00000024657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024657] [ENSMUST00000052691] [ENSMUST00000164837] [ENSMUST00000168938]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000024657
AA Change: D355G

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000024657
Gene: ENSMUSG00000023883
AA Change: D355G

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 probably benign
Transcript: ENSMUST00000052691
SMART Domains Protein: ENSMUSP00000093344
Gene: ENSMUSG00000050088

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 150 166 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164837
SMART Domains Protein: ENSMUSP00000125970
Gene: ENSMUSG00000050088

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 150 166 N/A INTRINSIC
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (50/51)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik G T 17: 48,400,849 (GRCm39) E45* probably null Het
Anxa9 C T 3: 95,207,657 (GRCm39) R250Q probably benign Het
Apaf1 A G 10: 90,831,530 (GRCm39) S1195P probably damaging Het
Baiap2l1 T A 5: 144,212,852 (GRCm39) probably benign Het
Bpifb6 G T 2: 153,747,212 (GRCm39) C172F probably damaging Het
Ccdc9 A T 7: 16,018,286 (GRCm39) D7E probably damaging Het
Cdcp3 A T 7: 130,844,846 (GRCm39) I580F probably damaging Het
Chchd6 T A 6: 89,546,380 (GRCm39) S109C probably damaging Het
Cltc G A 11: 86,648,201 (GRCm39) probably benign Het
Col4a6 G A X: 140,017,173 (GRCm39) P60L probably damaging Het
Cxxc1 C T 18: 74,351,915 (GRCm39) T264I probably benign Het
D5Ertd579e A G 5: 36,830,151 (GRCm39) S58P probably benign Het
Dlgap1 T A 17: 71,122,293 (GRCm39) H907Q probably damaging Het
Dnah2 A T 11: 69,405,523 (GRCm39) M663K probably benign Het
Dock8 G A 19: 25,160,867 (GRCm39) M1791I probably damaging Het
Esd T C 14: 74,969,952 (GRCm39) F8S probably benign Het
Etnk2 T C 1: 133,302,300 (GRCm39) Y273H probably damaging Het
Fry C A 5: 150,318,576 (GRCm39) H935Q possibly damaging Het
Gabrr3 T G 16: 59,235,633 (GRCm39) M45R possibly damaging Het
Gata4 T C 14: 63,478,258 (GRCm39) T114A probably benign Het
Gcnt4 G A 13: 97,082,997 (GRCm39) D98N probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Igkv1-99 C T 6: 68,519,387 (GRCm39) Q115* probably null Het
Irak3 G T 10: 119,982,493 (GRCm39) T323K possibly damaging Het
Lrp2 T C 2: 69,302,804 (GRCm39) D2975G probably damaging Het
Mybph T A 1: 134,126,142 (GRCm39) W319R probably damaging Het
Nell1 A G 7: 49,869,343 (GRCm39) D206G probably damaging Het
Or10ag55-ps1 A T 2: 87,114,658 (GRCm39) D8V probably benign Het
Or4c105 T C 2: 88,647,590 (GRCm39) V25A probably benign Het
Or5b114-ps1 T C 19: 13,352,581 (GRCm39) I85T probably benign Het
Pex1 A C 5: 3,685,886 (GRCm39) D1209A possibly damaging Het
Psmd2 T C 16: 20,475,638 (GRCm39) S413P probably damaging Het
Ptgir G T 7: 16,641,287 (GRCm39) C193F probably damaging Het
Rad21l A G 2: 151,502,718 (GRCm39) I164T possibly damaging Het
Ralgapb G A 2: 158,292,133 (GRCm39) R773H probably damaging Het
Rasgef1b G T 5: 99,370,844 (GRCm39) N385K probably damaging Het
Shank3 C T 15: 89,433,979 (GRCm39) R1575C probably damaging Het
Slc7a2 G T 8: 41,365,446 (GRCm39) probably benign Het
Spata1 T A 3: 146,181,079 (GRCm39) N293I probably damaging Het
Spen C T 4: 141,197,681 (GRCm39) A3396T probably benign Het
Sphkap T C 1: 83,253,561 (GRCm39) H1396R probably benign Het
Spire2 A G 8: 124,086,867 (GRCm39) E446G probably damaging Het
Tdpoz2 A T 3: 93,558,918 (GRCm39) C351* probably null Het
Thoc5 G A 11: 4,876,061 (GRCm39) V605I possibly damaging Het
Ttll2 C T 17: 7,619,340 (GRCm39) V196I possibly damaging Het
Uba6 A G 5: 86,284,178 (GRCm39) Y576H probably damaging Het
Vegfb G A 19: 6,962,812 (GRCm39) P188L unknown Het
Vmn1r62 A G 7: 5,678,277 (GRCm39) probably benign Het
Vmn2r73 T A 7: 85,521,902 (GRCm39) T146S probably benign Het
Wdr64 A G 1: 175,633,584 (GRCm39) Y945C probably damaging Het
Zfp870 C T 17: 33,101,904 (GRCm39) C475Y probably damaging Het
Zfp958 A T 8: 4,678,268 (GRCm39) T98S possibly damaging 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
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
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'- AGGAAATAGAAGCTATACCATGACC -3'
(R):5'- AAACTTGCGACTCCACTGG -3'

Sequencing Primer
(F):5'- TAGAAGCTATACCATGACCAAAAGTG -3'
(R):5'- TGGGTCCTGACTCCAAGGAAC -3'
Posted On 2021-03-08