Incidental Mutation 'R7609:Phf3'
ID 588457
Institutional Source Beutler Lab
Gene Symbol Phf3
Ensembl Gene ENSMUSG00000048874
Gene Name PHD finger protein 3
Synonyms AU020177, 2310061N19Rik
MMRRC Submission 045714-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7609 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 30841417-30912989 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30844582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 1459 (Y1459C)
Ref Sequence ENSEMBL: ENSMUSP00000085650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088310] [ENSMUST00000186733] [ENSMUST00000191329]
AlphaFold B2RQG2
Predicted Effect probably benign
Transcript: ENSMUST00000088310
AA Change: Y1459C

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000085650
Gene: ENSMUSG00000048874
AA Change: Y1459C

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 benign
Transcript: ENSMUST00000186733
AA Change: Y1459C

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000139610
Gene: ENSMUSG00000048874
AA Change: Y1459C

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 benign
Transcript: ENSMUST00000191329
SMART Domains Protein: ENSMUSP00000139662
Gene: ENSMUSG00000048874

DomainStartEndE-ValueType
Pfam:SPOC 1 88 1.9e-17 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 96% (69/72)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T C 9: 55,896,744 (GRCm39) Y288C probably benign Het
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Agl C A 3: 116,600,928 (GRCm39) R24I possibly damaging Het
Aldoart2 A G 12: 55,612,833 (GRCm39) T253A probably benign Het
Ankrd39 G A 1: 36,578,546 (GRCm39) R160W probably damaging Het
Aspscr1 C T 11: 120,568,348 (GRCm39) T57M probably damaging Het
Baz2b A G 2: 59,792,817 (GRCm39) L437S probably benign Het
Bcl9l T A 9: 44,417,044 (GRCm39) L331Q probably damaging Het
Cdhr4 C A 9: 107,874,482 (GRCm39) P546T probably damaging Het
Cfap61 T C 2: 145,954,453 (GRCm39) C231R unknown Het
Cnih4 T C 1: 180,983,467 (GRCm39) L61P probably damaging Het
Dtx4 A G 19: 12,469,645 (GRCm39) Y161H probably damaging Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Ercc6 A G 14: 32,288,318 (GRCm39) H830R probably benign Het
Exoc7 T C 11: 116,180,085 (GRCm39) N673S possibly damaging Het
Gm12185 T C 11: 48,806,850 (GRCm39) S114G possibly damaging Het
Hsfy2 A T 1: 56,676,310 (GRCm39) F76I probably benign Het
Igsf9b A G 9: 27,257,186 (GRCm39) D1413G probably benign Het
Klk1b8 G A 7: 43,451,603 (GRCm39) C198Y probably damaging Het
Lama3 G T 18: 12,664,891 (GRCm39) probably null Het
Lce3f A T 3: 92,900,403 (GRCm39) S75C unknown Het
Ldhal6b T C 17: 5,468,266 (GRCm39) M223V probably benign Het
Magoh T C 4: 107,744,409 (GRCm39) V126A possibly damaging Het
Mc1r A T 8: 124,135,032 (GRCm39) I262F probably damaging Het
Mecom A G 3: 30,010,591 (GRCm39) I629T probably damaging Het
Mkrn2os A G 6: 115,563,687 (GRCm39) V116A possibly damaging Het
Mtcl3 A T 10: 29,024,224 (GRCm39) D380V probably damaging Het
Muc5b T A 7: 141,415,466 (GRCm39) V2804D possibly damaging Het
Myo15a T C 11: 60,379,637 (GRCm39) V279A Het
Nhlrc2 A G 19: 56,583,328 (GRCm39) I600V probably benign Het
Nipbl T C 15: 8,335,356 (GRCm39) Q2183R probably benign Het
Obscn C T 11: 58,891,125 (GRCm39) E7136K unknown Het
Or10ag56 T C 2: 87,139,853 (GRCm39) V260A probably benign Het
Or5p4 T A 7: 107,680,753 (GRCm39) F251I probably damaging Het
Or8c9 A C 9: 38,241,520 (GRCm39) L209F possibly damaging Het
Or8g37 C T 9: 39,731,583 (GRCm39) T216I probably benign Het
Otop3 T C 11: 115,230,546 (GRCm39) I141T possibly damaging Het
Pde4dip C A 3: 97,622,881 (GRCm39) V1443F possibly damaging Het
Pdgfra T C 5: 75,327,382 (GRCm39) V193A probably benign Het
Pias4 A T 10: 80,993,860 (GRCm39) probably null Het
Plcg2 A G 8: 118,284,852 (GRCm39) N159S probably benign Het
Plekha7 T C 7: 115,763,681 (GRCm39) D307G probably benign Het
Ptprd T C 4: 75,990,240 (GRCm39) K491E probably benign Het
Rbpjl A T 2: 164,247,734 (GRCm39) R62S probably benign Het
Rgs11 T C 17: 26,426,415 (GRCm39) S245P probably damaging Het
Ripor3 G A 2: 167,826,490 (GRCm39) A685V possibly damaging Het
Rnase9 G A 14: 51,276,940 (GRCm39) P13S possibly damaging Het
Saxo5 A T 8: 3,526,057 (GRCm39) H70L probably benign Het
Scin C T 12: 40,174,588 (GRCm39) C165Y probably damaging Het
Senp7 T C 16: 55,932,000 (GRCm39) W100R probably benign Het
Slc26a2 T C 18: 61,331,532 (GRCm39) D633G probably benign Het
Slc4a4 C T 5: 89,283,545 (GRCm39) P446S probably damaging Het
Spag17 T A 3: 100,002,911 (GRCm39) C1878* probably null Het
Ssc5d A G 7: 4,930,575 (GRCm39) E129G possibly damaging Het
Supt6 T C 11: 78,117,777 (GRCm39) N480D probably benign Het
Tbk1 A G 10: 121,388,406 (GRCm39) L590S probably damaging Het
Tmem63a T A 1: 180,780,539 (GRCm39) probably null Het
Tpsg1 G T 17: 25,592,184 (GRCm39) G86V probably damaging Het
Trio A G 15: 27,912,728 (GRCm39) S109P unknown Het
Tsga10 A T 1: 37,843,974 (GRCm39) probably null Het
Ttn A T 2: 76,626,107 (GRCm39) L14984* probably null Het
Tyr T C 7: 87,133,092 (GRCm39) T325A probably benign Het
U2surp A T 9: 95,367,732 (GRCm39) probably null Het
Uba6 C A 5: 86,294,934 (GRCm39) K368N probably benign Het
Upb1 A G 10: 75,272,035 (GRCm39) T283A probably benign Het
Urb1 CACTTAC CAC 16: 90,569,461 (GRCm39) probably benign Het
Vmn1r31 A G 6: 58,449,455 (GRCm39) Y137H probably damaging Het
Wdtc1 T C 4: 133,023,748 (GRCm39) K541R probably damaging Het
Wrn A G 8: 33,800,741 (GRCm39) I624T possibly damaging Het
Zfp804b T A 5: 6,820,066 (GRCm39) D999V possibly damaging Het
Zmym4 T A 4: 126,819,588 (GRCm39) H105L probably benign 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
R5310:Phf3 UTSW 1 30,842,887 (GRCm39) missense probably damaging 1.00
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
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'- AGACTGAGACTTGCCAAAGG -3'
(R):5'- AGCTGAACCTCTGATGGAAGTC -3'

Sequencing Primer
(F):5'- GATGAACCTACCGATGAAGTCTCTTC -3'
(R):5'- TCTGATGGAAGTCACCAAGC -3'
Posted On 2019-10-24