Incidental Mutation 'R5310:Phf3'
ID 404755
Institutional Source Beutler Lab
Gene Symbol Phf3
Ensembl Gene ENSMUSG00000048874
Gene Name PHD finger protein 3
Synonyms AU020177, 2310061N19Rik
MMRRC Submission 042893-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5310 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 30841417-30912989 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30842887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 2024 (K2024R)
Ref Sequence ENSEMBL: ENSMUSP00000139610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088310] [ENSMUST00000186733] [ENSMUST00000191329]
AlphaFold B2RQG2
Predicted Effect probably damaging
Transcript: ENSMUST00000088310
AA Change: K2024R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085650
Gene: ENSMUSG00000048874
AA Change: K2024R

DomainStartEndE-ValueType
low complexity region 212 223 N/A INTRINSIC
low complexity region 337 344 N/A INTRINSIC
low complexity region 600 611 N/A INTRINSIC
low complexity region 651 660 N/A INTRINSIC
PHD 697 748 3.82e-10 SMART
low complexity region 847 859 N/A INTRINSIC
low complexity region 876 887 N/A INTRINSIC
TFS2M 908 1008 1.28e-47 SMART
Pfam:SPOC 1188 1294 4.2e-26 PFAM
low complexity region 1367 1373 N/A INTRINSIC
low complexity region 1516 1529 N/A INTRINSIC
low complexity region 1597 1620 N/A INTRINSIC
low complexity region 1796 1811 N/A INTRINSIC
low complexity region 1813 1846 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000186733
AA Change: K2024R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139610
Gene: ENSMUSG00000048874
AA Change: K2024R

DomainStartEndE-ValueType
low complexity region 212 223 N/A INTRINSIC
low complexity region 337 344 N/A INTRINSIC
low complexity region 600 611 N/A INTRINSIC
low complexity region 651 660 N/A INTRINSIC
PHD 697 748 3.82e-10 SMART
low complexity region 847 859 N/A INTRINSIC
low complexity region 876 887 N/A INTRINSIC
TFS2M 908 1008 1.28e-47 SMART
Pfam:SPOC 1188 1294 4.2e-26 PFAM
low complexity region 1367 1373 N/A INTRINSIC
low complexity region 1516 1529 N/A INTRINSIC
low complexity region 1597 1620 N/A INTRINSIC
low complexity region 1796 1811 N/A INTRINSIC
low complexity region 1813 1846 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190190
Predicted Effect probably benign
Transcript: ENSMUST00000191329
SMART Domains Protein: ENSMUSP00000139662
Gene: ENSMUSG00000048874

DomainStartEndE-ValueType
Pfam:SPOC 1 88 1.9e-17 PFAM
Meta Mutation Damage Score 0.0765 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.7%
Validation Efficiency 100% (74/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a PHD finger-containing gene family. This gene may function as a transcription factor and may be involved in glioblastomas development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A T 7: 119,931,839 (GRCm39) I31L possibly damaging Het
Abca17 T C 17: 24,500,204 (GRCm39) K1329R probably benign Het
Acap2 A G 16: 30,952,427 (GRCm39) Y197H probably benign Het
Adgrv1 A G 13: 81,624,809 (GRCm39) V3720A possibly damaging Het
Alms1 T A 6: 85,592,350 (GRCm39) S870T possibly damaging Het
Anapc4 A G 5: 53,016,501 (GRCm39) E493G probably benign Het
Ap2a1 A G 7: 44,555,489 (GRCm39) probably null Het
Arhgef38 A G 3: 132,822,227 (GRCm39) L179P probably damaging Het
Bicral T C 17: 47,124,909 (GRCm39) D630G possibly damaging Het
Ccdc97 A T 7: 25,415,201 (GRCm39) L154Q probably damaging Het
Cd40 T C 2: 164,905,483 (GRCm39) probably null Het
Celsr1 T A 15: 85,810,423 (GRCm39) N2155I possibly damaging Het
Cemip A T 7: 83,641,241 (GRCm39) L261H probably damaging Het
Cep57 G A 9: 13,730,164 (GRCm39) H98Y probably damaging Het
Chrna7 A T 7: 62,755,805 (GRCm39) L247Q probably damaging Het
Cyp2c40 T A 19: 39,766,474 (GRCm39) M374L probably damaging Het
Cyp4f13 T C 17: 33,144,795 (GRCm39) D372G probably damaging Het
Dazl C A 17: 50,588,311 (GRCm39) S288I probably damaging Het
Dnah5 T C 15: 28,311,474 (GRCm39) F1818L probably damaging Het
Echdc1 T C 10: 29,210,204 (GRCm39) V143A possibly damaging Het
Eif4enif1 T A 11: 3,192,687 (GRCm39) H838Q probably damaging Het
Erich3 A T 3: 154,469,217 (GRCm39) D1223V probably damaging Het
Fbxl2 A G 9: 113,815,576 (GRCm39) I229T possibly damaging Het
Gfm2 G A 13: 97,299,659 (GRCm39) A406T probably damaging Het
Ggnbp2 A G 11: 84,760,794 (GRCm39) M1T probably null Het
Glb1l2 C T 9: 26,708,162 (GRCm39) probably benign Het
Gnl2 A G 4: 124,946,633 (GRCm39) K618R probably benign Het
Greb1 A T 12: 16,766,760 (GRCm39) I346K probably benign Het
Greb1l G A 18: 10,542,427 (GRCm39) E1341K probably damaging Het
Gtse1 A G 15: 85,757,993 (GRCm39) Q533R probably benign Het
Hemgn A G 4: 46,403,927 (GRCm39) S23P possibly damaging Het
Htr6 G T 4: 138,788,977 (GRCm39) H359Q probably damaging Het
Ifit1 T C 19: 34,626,204 (GRCm39) F447L probably benign Het
Kansl1 T C 11: 104,315,684 (GRCm39) Y118C possibly damaging Het
Khk G A 5: 31,084,373 (GRCm39) V118M probably benign Het
Klra17 T A 6: 129,845,671 (GRCm39) K181M probably damaging Het
Lbh T C 17: 73,228,287 (GRCm39) probably null Het
Lmo2 T C 2: 103,806,445 (GRCm39) I108T probably damaging Het
Maco1 T C 4: 134,564,330 (GRCm39) probably benign Het
Mgat5 T A 1: 127,315,251 (GRCm39) probably null Het
Mink1 T C 11: 70,498,169 (GRCm39) V525A probably benign Het
Myo10 C A 15: 25,778,164 (GRCm39) probably null Het
Nlrp2 T C 7: 5,328,007 (GRCm39) N682S probably benign Het
Nr2e3 G A 9: 59,856,617 (GRCm39) probably benign Het
Or5p5 T C 7: 107,414,171 (GRCm39) C129R probably damaging Het
Or6b2b T C 1: 92,418,758 (GRCm39) T240A probably damaging Het
Pabpc4l T C 3: 46,401,276 (GRCm39) T123A probably benign Het
Pfas G A 11: 68,878,847 (GRCm39) S1319F probably damaging Het
Pld4 G A 12: 112,735,046 (GRCm39) C501Y probably damaging Het
Psg16 C T 7: 16,824,560 (GRCm39) R115W probably damaging Het
Rab3gap1 G A 1: 127,870,110 (GRCm39) probably null Het
Rimkla C A 4: 119,335,049 (GRCm39) K111N probably damaging Het
Rrm2b T C 15: 37,927,571 (GRCm39) E113G probably damaging Het
Rspry1 C T 8: 95,349,813 (GRCm39) T67I probably benign Het
Skint6 C A 4: 113,041,965 (GRCm39) E292* probably null Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc13a1 A G 6: 24,134,373 (GRCm39) M170T probably benign Het
Slc15a5 T C 6: 138,050,034 (GRCm39) N127S probably benign Het
Slc39a10 G A 1: 46,875,285 (GRCm39) H6Y probably damaging Het
Spata31e2 A C 1: 26,724,169 (GRCm39) V337G probably benign Het
Sugct A T 13: 17,427,145 (GRCm39) C338* probably null Het
Tbk1 A T 10: 121,391,956 (GRCm39) M486K probably benign Het
Terf1 A T 1: 15,875,909 (GRCm39) E3V probably damaging Het
Thoc5 T A 11: 4,860,648 (GRCm39) Y246N probably damaging Het
Tmem167b G A 3: 108,469,415 (GRCm39) probably benign Het
Tmtc1 T A 6: 148,256,910 (GRCm39) probably benign Het
Zfp322a A T 13: 23,541,532 (GRCm39) M70K possibly damaging Het
Zfp979 A T 4: 147,698,375 (GRCm39) H111Q possibly damaging Het
Other mutations in Phf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Phf3 APN 1 30,850,928 (GRCm39) missense probably damaging 0.99
IGL00704:Phf3 APN 1 30,843,919 (GRCm39) missense probably benign
IGL01147:Phf3 APN 1 30,843,250 (GRCm39) missense probably damaging 1.00
IGL01360:Phf3 APN 1 30,847,809 (GRCm39) missense probably damaging 1.00
IGL01376:Phf3 APN 1 30,869,566 (GRCm39) missense possibly damaging 0.62
IGL01396:Phf3 APN 1 30,843,386 (GRCm39) nonsense probably null
IGL01830:Phf3 APN 1 30,853,148 (GRCm39) nonsense probably null
IGL02108:Phf3 APN 1 30,869,032 (GRCm39) missense probably damaging 1.00
IGL02156:Phf3 APN 1 30,847,859 (GRCm39) missense probably damaging 1.00
IGL02576:Phf3 APN 1 30,869,117 (GRCm39) missense probably benign 0.01
IGL03031:Phf3 APN 1 30,843,734 (GRCm39) missense probably benign 0.00
IGL03334:Phf3 APN 1 30,844,810 (GRCm39) missense probably damaging 0.99
IGL03411:Phf3 APN 1 30,843,482 (GRCm39) missense probably damaging 1.00
FR4976:Phf3 UTSW 1 30,844,104 (GRCm39) utr 3 prime probably benign
PIT4458001:Phf3 UTSW 1 30,855,622 (GRCm39) missense probably damaging 1.00
R0037:Phf3 UTSW 1 30,843,999 (GRCm39) missense probably benign 0.03
R0052:Phf3 UTSW 1 30,847,848 (GRCm39) missense probably damaging 1.00
R0114:Phf3 UTSW 1 30,844,524 (GRCm39) missense possibly damaging 0.87
R0123:Phf3 UTSW 1 30,844,146 (GRCm39) missense probably benign 0.01
R0225:Phf3 UTSW 1 30,844,146 (GRCm39) missense probably benign 0.01
R0715:Phf3 UTSW 1 30,850,919 (GRCm39) missense probably damaging 1.00
R0835:Phf3 UTSW 1 30,869,632 (GRCm39) missense probably benign 0.02
R0848:Phf3 UTSW 1 30,902,253 (GRCm39) missense probably damaging 1.00
R1473:Phf3 UTSW 1 30,845,021 (GRCm39) missense probably damaging 1.00
R1522:Phf3 UTSW 1 30,844,729 (GRCm39) missense probably benign 0.05
R1549:Phf3 UTSW 1 30,843,923 (GRCm39) missense probably benign 0.00
R1555:Phf3 UTSW 1 30,844,958 (GRCm39) missense possibly damaging 0.86
R1780:Phf3 UTSW 1 30,851,023 (GRCm39) missense probably damaging 1.00
R1789:Phf3 UTSW 1 30,845,287 (GRCm39) missense probably damaging 1.00
R1875:Phf3 UTSW 1 30,869,704 (GRCm39) missense possibly damaging 0.81
R1912:Phf3 UTSW 1 30,843,426 (GRCm39) missense probably damaging 1.00
R1957:Phf3 UTSW 1 30,870,601 (GRCm39) missense probably damaging 1.00
R2019:Phf3 UTSW 1 30,850,928 (GRCm39) missense probably damaging 0.99
R2259:Phf3 UTSW 1 30,843,424 (GRCm39) missense probably benign 0.20
R2305:Phf3 UTSW 1 30,844,556 (GRCm39) nonsense probably null
R2345:Phf3 UTSW 1 30,844,432 (GRCm39) nonsense probably null
R2424:Phf3 UTSW 1 30,845,430 (GRCm39) missense probably damaging 1.00
R2497:Phf3 UTSW 1 30,869,095 (GRCm39) missense probably damaging 1.00
R2504:Phf3 UTSW 1 30,849,870 (GRCm39) missense probably damaging 1.00
R3522:Phf3 UTSW 1 30,844,684 (GRCm39) missense probably damaging 1.00
R3816:Phf3 UTSW 1 30,844,834 (GRCm39) missense probably damaging 1.00
R4152:Phf3 UTSW 1 30,870,539 (GRCm39) missense probably benign 0.13
R4403:Phf3 UTSW 1 30,843,490 (GRCm39) missense probably damaging 1.00
R4658:Phf3 UTSW 1 30,902,169 (GRCm39) missense probably damaging 1.00
R4663:Phf3 UTSW 1 30,860,296 (GRCm39) missense probably damaging 1.00
R4669:Phf3 UTSW 1 30,869,027 (GRCm39) missense probably damaging 1.00
R4706:Phf3 UTSW 1 30,844,687 (GRCm39) missense probably damaging 1.00
R4757:Phf3 UTSW 1 30,859,908 (GRCm39) missense probably damaging 1.00
R4766:Phf3 UTSW 1 30,853,020 (GRCm39) unclassified probably benign
R4786:Phf3 UTSW 1 30,855,638 (GRCm39) nonsense probably null
R5107:Phf3 UTSW 1 30,870,566 (GRCm39) missense probably benign 0.03
R5155:Phf3 UTSW 1 30,863,457 (GRCm39) missense possibly damaging 0.87
R5823:Phf3 UTSW 1 30,843,764 (GRCm39) missense probably damaging 1.00
R5944:Phf3 UTSW 1 30,859,785 (GRCm39) missense probably damaging 1.00
R5979:Phf3 UTSW 1 30,844,827 (GRCm39) missense probably damaging 1.00
R6007:Phf3 UTSW 1 30,843,426 (GRCm39) missense probably damaging 1.00
R6024:Phf3 UTSW 1 30,902,307 (GRCm39) missense probably damaging 1.00
R6072:Phf3 UTSW 1 30,869,769 (GRCm39) missense probably benign 0.08
R6533:Phf3 UTSW 1 30,845,399 (GRCm39) missense probably damaging 1.00
R6649:Phf3 UTSW 1 30,844,104 (GRCm39) missense possibly damaging 0.75
R6653:Phf3 UTSW 1 30,844,104 (GRCm39) missense possibly damaging 0.75
R6852:Phf3 UTSW 1 30,843,711 (GRCm39) missense probably damaging 0.97
R6855:Phf3 UTSW 1 30,859,204 (GRCm39) missense probably damaging 1.00
R6862:Phf3 UTSW 1 30,853,063 (GRCm39) missense probably damaging 1.00
R6930:Phf3 UTSW 1 30,850,958 (GRCm39) missense probably damaging 1.00
R7135:Phf3 UTSW 1 30,870,190 (GRCm39) missense possibly damaging 0.61
R7323:Phf3 UTSW 1 30,852,211 (GRCm39) missense probably benign 0.01
R7352:Phf3 UTSW 1 30,843,407 (GRCm39) missense possibly damaging 0.87
R7455:Phf3 UTSW 1 30,876,239 (GRCm39) missense probably damaging 0.96
R7549:Phf3 UTSW 1 30,870,556 (GRCm39) missense probably benign 0.01
R7609:Phf3 UTSW 1 30,844,582 (GRCm39) missense probably benign 0.05
R7720:Phf3 UTSW 1 30,868,938 (GRCm39) missense probably damaging 1.00
R7745:Phf3 UTSW 1 30,843,305 (GRCm39) missense probably damaging 1.00
R8134:Phf3 UTSW 1 30,863,552 (GRCm39) missense unknown
R8264:Phf3 UTSW 1 30,870,138 (GRCm39) missense possibly damaging 0.48
R8545:Phf3 UTSW 1 30,863,391 (GRCm39) missense possibly damaging 0.48
R8821:Phf3 UTSW 1 30,860,347 (GRCm39) nonsense probably null
R8831:Phf3 UTSW 1 30,860,347 (GRCm39) nonsense probably null
R8873:Phf3 UTSW 1 30,843,773 (GRCm39) missense possibly damaging 0.74
R9101:Phf3 UTSW 1 30,843,026 (GRCm39) missense possibly damaging 0.56
R9402:Phf3 UTSW 1 30,850,928 (GRCm39) missense probably damaging 0.99
R9426:Phf3 UTSW 1 30,870,625 (GRCm39) nonsense probably null
R9594:Phf3 UTSW 1 30,869,003 (GRCm39) missense probably benign 0.07
R9707:Phf3 UTSW 1 30,868,923 (GRCm39) critical splice donor site probably null
R9803:Phf3 UTSW 1 30,869,872 (GRCm39) missense probably benign 0.16
Z1177:Phf3 UTSW 1 30,851,049 (GRCm39) critical splice acceptor site probably null
Z1177:Phf3 UTSW 1 30,844,132 (GRCm39) missense unknown
Z1177:Phf3 UTSW 1 30,843,376 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTGTAGGTAGGACAGTGG -3'
(R):5'- TCACGACAAGGATTGGGAGC -3'

Sequencing Primer
(F):5'- CCTGTAGGTAGGACAGTGGTGTAAAG -3'
(R):5'- AGACCGCGGCTCTCACAC -3'
Posted On 2016-07-22