Incidental Mutation 'R4498:Phf10'
ID 331718
Institutional Source Beutler Lab
Gene Symbol Phf10
Ensembl Gene ENSMUSG00000023883
Gene Name PHD finger protein 10
Synonyms 1810055P05Rik, Baf45a
MMRRC Submission 041751-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4498 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 15165271-15181535 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 15165377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 493 (N493I)
Ref Sequence ENSEMBL: ENSMUSP00000024657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024657] [ENSMUST00000052691] [ENSMUST00000164837] [ENSMUST00000168938] [ENSMUST00000228330] [ENSMUST00000174004]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000024657
AA Change: N493I

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000024657
Gene: ENSMUSG00000023883
AA Change: N493I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171526
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174163
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172650
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228221
Predicted Effect probably benign
Transcript: ENSMUST00000228330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227673
Predicted Effect probably benign
Transcript: ENSMUST00000174004
SMART Domains Protein: ENSMUSP00000133628
Gene: ENSMUSG00000050088

DomainStartEndE-ValueType
Pfam:UPF0669 1 185 7e-111 PFAM
Meta Mutation Damage Score 0.0990 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 91% (53/58)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 G A 15: 81,779,486 (GRCm39) A97T probably damaging Het
Acot9 T A X: 154,047,064 (GRCm39) L18* probably null Het
Arhgap12 A T 18: 6,111,774 (GRCm39) C69S probably damaging Het
Ccdc17 G T 4: 116,454,438 (GRCm39) probably benign Het
Ctnnd2 A C 15: 30,620,020 (GRCm39) D124A probably damaging Het
Cux1 T C 5: 136,341,847 (GRCm39) N424S probably damaging Het
Dhrs7c T C 11: 67,706,706 (GRCm39) F214S possibly damaging Het
Fat2 T C 11: 55,160,923 (GRCm39) D3269G possibly damaging Het
Fhod3 T A 18: 25,243,296 (GRCm39) probably null Het
Glul G T 1: 153,782,849 (GRCm39) G187* probably null Het
Gnmt ATTAGGGGATGGTCTTAGGG ATTAGGG 17: 47,036,662 (GRCm39) 294 probably benign Het
H2-Q7 A T 17: 35,658,506 (GRCm39) Y48F probably damaging Het
Hes3 T C 4: 152,371,542 (GRCm39) T136A probably benign Het
Krt40 T C 11: 99,433,900 (GRCm39) T29A possibly damaging Het
Lrrc37a C A 11: 103,392,624 (GRCm39) D934Y probably benign Het
Mctp2 T A 7: 71,833,599 (GRCm39) D581V probably damaging Het
Med27 T C 2: 29,361,354 (GRCm39) S38P probably damaging Het
Mff A G 1: 82,719,501 (GRCm39) probably benign Het
Mmadhc T C 2: 50,170,236 (GRCm39) K292R probably benign Het
Mmp24 A G 2: 155,655,908 (GRCm39) I449V possibly damaging Het
Mthfd1 G T 12: 76,361,764 (GRCm39) L123F probably damaging Het
Mug2 T A 6: 122,059,711 (GRCm39) L1363Q probably damaging Het
Myh4 T C 11: 67,142,578 (GRCm39) I913T probably damaging Het
Myo16 T A 8: 10,485,869 (GRCm39) N649K probably benign Het
Myo7b A G 18: 32,147,282 (GRCm39) I87T probably benign Het
Ndst4 A G 3: 125,232,007 (GRCm39) D192G probably damaging Het
Nup155 A G 15: 8,183,157 (GRCm39) D1239G possibly damaging Het
Or5b21 T C 19: 12,840,033 (GRCm39) V298A probably damaging Het
Or7e173 G C 9: 19,939,029 (GRCm39) N68K possibly damaging Het
Pramel32 A T 4: 88,547,129 (GRCm39) probably null Het
Prr12 T C 7: 44,695,338 (GRCm39) E1376G unknown Het
Rasa3 T C 8: 13,664,587 (GRCm39) H75R probably benign Het
Rin3 G A 12: 102,335,939 (GRCm39) V537M probably damaging Het
Samd4 C T 14: 47,333,566 (GRCm39) T272I probably damaging Het
Septin5 C T 16: 18,442,142 (GRCm39) G257D probably damaging Het
Serpina6 T C 12: 103,620,326 (GRCm39) K141R probably benign Het
Siglecf T A 7: 43,001,700 (GRCm39) I170N possibly damaging Het
Spopl C T 2: 23,407,957 (GRCm39) V241M probably damaging Het
Stk40 G A 4: 126,023,544 (GRCm39) probably null Het
Syne1 A G 10: 4,981,768 (GRCm39) S8700P probably benign Het
Tbc1d4 C T 14: 101,845,772 (GRCm39) G42E probably damaging Het
Tfap2c C T 2: 172,399,102 (GRCm39) Q425* probably null Het
Tmem255b T C 8: 13,505,998 (GRCm39) S202P probably damaging Het
Traf6 T C 2: 101,514,891 (GRCm39) S16P probably benign Het
Ttc12 A G 9: 49,383,705 (GRCm39) I66T probably damaging Het
Ttc21a G A 9: 119,787,885 (GRCm39) D818N possibly damaging Het
Zfp81 A T 17: 33,553,677 (GRCm39) I379N possibly damaging Het
Zgrf1 C A 3: 127,379,749 (GRCm39) S211* 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
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'- TTAAAGCCTGGGGAAATGAGCC -3'
(R):5'- TAAGGAACCAGTCTGTACTCCC -3'

Sequencing Primer
(F):5'- AATGAGCCATTTCTCTGACTTTG -3'
(R):5'- ACTGAAAAATCCCAGGGAGTTATC -3'
Posted On 2015-07-21