Incidental Mutation 'R4658:Phf3'
ID 352568
Institutional Source Beutler Lab
Gene Symbol Phf3
Ensembl Gene ENSMUSG00000048874
Gene Name PHD finger protein 3
Synonyms AU020177, 2310061N19Rik
MMRRC Submission 041918-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4658 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 30841417-30912989 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30902169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 48 (M48K)
Ref Sequence ENSEMBL: ENSMUSP00000140935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088310] [ENSMUST00000186733] [ENSMUST00000187968] [ENSMUST00000188780] [ENSMUST00000191064]
AlphaFold B2RQG2
Predicted Effect probably damaging
Transcript: ENSMUST00000088310
AA Change: M48K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000085650
Gene: ENSMUSG00000048874
AA Change: M48K

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: ENSMUST00000186105
Predicted Effect probably damaging
Transcript: ENSMUST00000186733
AA Change: M48K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139610
Gene: ENSMUSG00000048874
AA Change: M48K

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: ENSMUST00000187600
Predicted Effect possibly damaging
Transcript: ENSMUST00000187968
AA Change: M48K

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect probably damaging
Transcript: ENSMUST00000188780
AA Change: M48K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140935
Gene: ENSMUSG00000048874
AA Change: M48K

DomainStartEndE-ValueType
low complexity region 158 169 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000191064
AA Change: M48K

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191245
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192050
Meta Mutation Damage Score 0.3133 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 99% (88/89)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,338,625 (GRCm39) R778S probably damaging Het
Adam17 A G 12: 21,382,161 (GRCm39) C567R probably damaging Het
Ankrd28 G A 14: 31,432,825 (GRCm39) A758V probably damaging Het
Atrn T C 2: 130,775,349 (GRCm39) Y151H probably damaging Het
B3gat3 A G 19: 8,902,996 (GRCm39) T118A possibly damaging Het
Camta1 A G 4: 151,228,367 (GRCm39) C822R probably damaging Het
Capn15 G T 17: 26,179,742 (GRCm39) Q807K probably benign Het
Clec12a T C 6: 129,331,493 (GRCm39) Y145H probably damaging Het
Clk1 T C 1: 58,452,146 (GRCm39) I393V probably benign Het
Cpm A G 10: 117,503,956 (GRCm39) I121V probably benign Het
Cux1 A G 5: 136,279,448 (GRCm39) I405T possibly damaging Het
Dnah3 A G 7: 119,549,874 (GRCm39) S3471P probably damaging Het
Dok6 A G 18: 89,491,971 (GRCm39) probably benign Het
Eif4g1 A T 16: 20,504,684 (GRCm39) D1124V possibly damaging Het
Eif4g3 A G 4: 137,933,443 (GRCm39) E1756G probably damaging Het
Exo5 A G 4: 120,779,748 (GRCm39) V39A probably benign Het
Fmnl1 A T 11: 103,088,520 (GRCm39) I90F probably damaging Het
Fryl G T 5: 73,238,396 (GRCm39) T1450K probably damaging Het
Gde1 T C 7: 118,293,751 (GRCm39) M91V probably benign Het
Gimd1 T C 3: 132,350,343 (GRCm39) I84T probably damaging Het
Gm13889 C T 2: 93,787,453 (GRCm39) probably benign Het
Gm6445 T A 19: 9,585,561 (GRCm39) noncoding transcript Het
Gm8113 T C 14: 44,169,867 (GRCm39) S483P probably damaging Het
Grik2 T C 10: 49,399,888 (GRCm39) I281V possibly damaging Het
Grik5 T C 7: 24,760,152 (GRCm39) probably benign Het
Herc1 A T 9: 66,386,773 (GRCm39) I3796F possibly damaging Het
Hoxb13 A T 11: 96,085,309 (GRCm39) D14V probably benign Het
Hspg2 A G 4: 137,261,041 (GRCm39) Y1645C probably damaging Het
Igkv8-16 G T 6: 70,363,762 (GRCm39) R87S probably damaging Het
Ints1 A T 5: 139,760,054 (GRCm39) V140E possibly damaging Het
Kbtbd11 C A 8: 15,078,917 (GRCm39) D505E possibly damaging Het
Kcnu1 G A 8: 26,427,583 (GRCm39) C300Y probably damaging Het
Kmt2d G C 15: 98,750,410 (GRCm39) probably benign Het
Lats1 T C 10: 7,578,493 (GRCm39) V539A probably benign Het
Lipo5 C T 19: 33,441,922 (GRCm39) G200D unknown Het
Lmo7 C A 14: 102,124,393 (GRCm39) A284D probably damaging Het
Lyst G A 13: 13,809,968 (GRCm39) R546H probably damaging Het
Mcpt8 T C 14: 56,321,285 (GRCm39) M60V possibly damaging Het
Mdn1 A G 4: 32,730,749 (GRCm39) probably null Het
Mphosph10 A G 7: 64,038,722 (GRCm39) probably null Het
Muc5b G A 7: 141,395,135 (GRCm39) S47N unknown Het
Notch3 A T 17: 32,373,737 (GRCm39) N490K probably damaging Het
Nr1d1 G A 11: 98,662,738 (GRCm39) S85L possibly damaging Het
Obscn T A 11: 58,945,114 (GRCm39) R4635* probably null Het
Or10al5 G T 17: 38,063,054 (GRCm39) C103F probably damaging Het
Or13f5 T C 4: 52,826,240 (GRCm39) L281P probably damaging Het
Or9i16 T C 19: 13,864,912 (GRCm39) I221V probably benign Het
Pappa G A 4: 65,233,033 (GRCm39) probably null Het
Pcdhb17 G A 18: 37,619,652 (GRCm39) G481S probably damaging Het
Pde1a TCC TC 2: 79,728,525 (GRCm39) probably benign Het
Pira2 A T 7: 3,843,933 (GRCm39) V613E probably damaging Het
Poc1a T C 9: 106,226,887 (GRCm39) S327P possibly damaging Het
Ptpn9 A G 9: 56,927,321 (GRCm39) H66R probably benign Het
Rabgap1 C T 2: 37,377,561 (GRCm39) R353* probably null Het
Rcc1l G T 5: 134,200,729 (GRCm39) N134K probably damaging Het
Rims1 G A 1: 22,497,793 (GRCm39) T787I probably damaging Het
Rreb1 T G 13: 38,132,777 (GRCm39) S1651A probably damaging Het
Rsl1d1 T C 16: 11,019,238 (GRCm39) D100G probably damaging Het
Samd4 C T 14: 47,301,703 (GRCm39) R147C probably damaging Het
Serpinb6e T C 13: 34,025,299 (GRCm39) probably benign Het
Ska1 T C 18: 74,330,111 (GRCm39) I210V probably benign Het
Slc17a1 A G 13: 24,062,543 (GRCm39) I237V probably benign Het
Slc22a4 A T 11: 53,888,336 (GRCm39) S231T probably benign Het
Slc7a4 T A 16: 17,393,797 (GRCm39) M66L probably damaging Het
Snapc1 A G 12: 74,030,642 (GRCm39) T381A possibly damaging Het
St6galnac2 C T 11: 116,575,351 (GRCm39) probably benign Het
Taar2 C T 10: 23,817,401 (GRCm39) L314F probably benign Het
Tmem74b A G 2: 151,548,561 (GRCm39) D96G probably damaging Het
Tnfrsf17 T C 16: 11,131,833 (GRCm39) F6S probably benign Het
Tpp2 G T 1: 43,993,870 (GRCm39) G252W probably damaging Het
Trf A G 9: 103,100,807 (GRCm39) F209L probably damaging Het
Ttn T C 2: 76,728,935 (GRCm39) probably benign Het
Uhmk1 A T 1: 170,034,774 (GRCm39) H311Q probably damaging Het
Unc13c G T 9: 73,840,108 (GRCm39) Q248K probably damaging Het
Uqcrc2 A G 7: 120,250,144 (GRCm39) Y253C probably damaging Het
Vmn2r117 A G 17: 23,697,390 (GRCm39) F101L probably benign Het
Vmn2r43 T C 7: 8,258,070 (GRCm39) N381S probably benign Het
Zfp879 T A 11: 50,724,024 (GRCm39) Y271F probably 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
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
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'- ACTGATGCCTAGAAAAGAGACTC -3'
(R):5'- TCTATAGGGTTGAAAGACACACAG -3'

Sequencing Primer
(F):5'- TTTAAAGGAAAGAACCCTAAATGCAC -3'
(R):5'- GTTGAAAGACACACAGAAGTCTTC -3'
Posted On 2015-10-08