Incidental Mutation 'R0848:Phf3'
ID 77393
Institutional Source Beutler Lab
Gene Symbol Phf3
Ensembl Gene ENSMUSG00000048874
Gene Name PHD finger protein 3
Synonyms AU020177, 2310061N19Rik
MMRRC Submission 039027-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0848 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 30802339-30873921 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30863172 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 20 (L20P)
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: L20P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085650
Gene: ENSMUSG00000048874
AA Change: L20P

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: L20P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139610
Gene: ENSMUSG00000048874
AA Change: L20P

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: L20P

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000188780
AA Change: L20P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140935
Gene: ENSMUSG00000048874
AA Change: L20P

DomainStartEndE-ValueType
low complexity region 158 169 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000191064
AA Change: L20P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191245
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192050
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.5%
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,114,985 (GRCm38) H181Q probably damaging Het
Abca13 T A 11: 9,682,011 (GRCm38) L4977* probably null Het
Abca8a T A 11: 110,028,190 (GRCm38) Y1550F probably damaging Het
Actr2 C T 11: 20,072,584 (GRCm38) E296K probably benign Het
Agtpbp1 A T 13: 59,533,939 (GRCm38) probably benign Het
Anks1b A C 10: 90,071,125 (GRCm38) E268A probably damaging Het
Atp5s A T 12: 69,741,810 (GRCm38) H161L probably benign Het
C1rl A G 6: 124,508,506 (GRCm38) T279A probably benign Het
C5ar2 T C 7: 16,237,601 (GRCm38) T134A probably benign Het
Cdkl3 G A 11: 52,011,267 (GRCm38) R101Q probably damaging Het
Celsr2 A T 3: 108,414,338 (GRCm38) F386Y probably benign Het
Chd1 C T 17: 15,770,241 (GRCm38) P1685L probably damaging Het
Chrne G T 11: 70,615,413 (GRCm38) H402Q probably benign Het
Clvs1 A G 4: 9,282,003 (GRCm38) D149G possibly damaging Het
Cntnap5b T C 1: 100,255,163 (GRCm38) Y620H probably benign Het
Col6a1 A G 10: 76,713,624 (GRCm38) probably null Het
Cyp2d26 T A 15: 82,790,233 (GRCm38) I483F probably benign Het
Dlx6 C T 6: 6,863,665 (GRCm38) Q96* probably null Het
Eif1a T A 18: 46,608,047 (GRCm38) N116K possibly damaging Het
Epb41l5 A T 1: 119,549,954 (GRCm38) C696S probably benign Het
Exoc7 A G 11: 116,295,248 (GRCm38) S376P possibly damaging Het
Fads1 C T 19: 10,183,065 (GRCm38) P5L probably benign Het
G3bp1 T C 11: 55,498,626 (GRCm38) F383L probably damaging Het
Gimap7 T C 6: 48,723,723 (GRCm38) I81T probably damaging Het
Gtf2a1l T C 17: 88,694,229 (GRCm38) V171A probably damaging Het
Hax1 A G 3: 89,995,633 (GRCm38) S253P probably damaging Het
Hsd3b5 A T 3: 98,619,355 (GRCm38) D258E probably damaging Het
Kcnb1 G T 2: 167,106,267 (GRCm38) F220L probably damaging Het
Kif1a T A 1: 93,019,898 (GRCm38) Y1708F probably damaging Het
Krt14 A T 11: 100,204,264 (GRCm38) I379N probably damaging Het
Lpxn A G 19: 12,804,037 (GRCm38) I40V probably benign Het
Lrp1 C T 10: 127,553,362 (GRCm38) probably null Het
Lyst G A 13: 13,634,930 (GRCm38) R395H probably benign Het
Mindy4 G A 6: 55,318,286 (GRCm38) W737* probably null Het
Mki67 C A 7: 135,701,043 (GRCm38) R754L probably benign Het
Morf4l1 A G 9: 90,100,449 (GRCm38) V144A probably benign Het
Mvb12a T C 8: 71,545,778 (GRCm38) S186P probably benign Het
Myrf G C 19: 10,218,162 (GRCm38) T428S probably benign Het
Nipal1 A G 5: 72,667,840 (GRCm38) N292S probably damaging Het
Nqo2 T G 13: 33,972,478 (GRCm38) probably null Het
Olfr1532-ps1 A G 7: 106,914,993 (GRCm38) K265R probably benign Het
Olfr294 T C 7: 86,615,640 (GRCm38) Y335C probably damaging Het
Olfr807 C T 10: 129,755,208 (GRCm38) V81I probably benign Het
Olfr994 A T 2: 85,430,021 (GRCm38) N269K probably benign Het
Osbpl7 C A 11: 97,060,524 (GRCm38) P507Q probably damaging Het
Pcdhb1 G A 18: 37,267,422 (GRCm38) G809S probably benign Het
Pcm1 T C 8: 41,282,683 (GRCm38) V846A probably damaging Het
Pih1d1 A G 7: 45,157,617 (GRCm38) T58A probably damaging Het
Plekhn1 A G 4: 156,223,564 (GRCm38) probably null Het
Plvap A T 8: 71,506,882 (GRCm38) L422Q probably damaging Het
Polq C T 16: 37,062,130 (GRCm38) A1273V probably benign Het
Prelid2 T A 18: 41,935,224 (GRCm38) I51F probably damaging Het
Ptpn18 G A 1: 34,462,702 (GRCm38) D8N probably damaging Het
Ptpra T A 2: 130,518,991 (GRCm38) F190Y probably damaging Het
Pus7l A G 15: 94,540,512 (GRCm38) S151P probably benign Het
Rsph6a G A 7: 19,057,670 (GRCm38) D255N probably benign Het
Serpinb6c A T 13: 33,899,305 (GRCm38) V42D probably damaging Het
Slc7a13 A G 4: 19,818,866 (GRCm38) N22S probably benign Het
Snx5 G A 2: 144,253,806 (GRCm38) R312C probably damaging Het
Stard9 T C 2: 120,695,823 (GRCm38) S854P probably damaging Het
Syne2 AAGAG AAGAGAGAG 12: 76,097,959 (GRCm38) probably null Het
Syne2 AGAGTGAG AGAGTGAGTGAG 12: 76,097,960 (GRCm38) probably null Het
Tlr12 A G 4: 128,616,291 (GRCm38) I722T probably benign Het
Tmem101 A T 11: 102,155,866 (GRCm38) M59K possibly damaging Het
Trim34a C T 7: 104,261,124 (GRCm38) R378C probably benign Het
Trim35 T A 14: 66,309,125 (GRCm38) M447K probably benign Het
Trps1 C A 15: 50,661,549 (GRCm38) S704I possibly damaging Het
Vmn1r231 T A 17: 20,890,171 (GRCm38) S161C probably damaging Het
Vps13a A C 19: 16,698,897 (GRCm38) N1237K probably damaging Het
Zfp619 G T 7: 39,536,559 (GRCm38) C671F probably damaging Het
Other mutations in Phf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Phf3 APN 1 30,811,847 (GRCm38) missense probably damaging 0.99
IGL00704:Phf3 APN 1 30,804,838 (GRCm38) missense probably benign
IGL01147:Phf3 APN 1 30,804,169 (GRCm38) missense probably damaging 1.00
IGL01360:Phf3 APN 1 30,808,728 (GRCm38) missense probably damaging 1.00
IGL01376:Phf3 APN 1 30,830,485 (GRCm38) missense possibly damaging 0.62
IGL01396:Phf3 APN 1 30,804,305 (GRCm38) nonsense probably null
IGL01830:Phf3 APN 1 30,814,067 (GRCm38) nonsense probably null
IGL02108:Phf3 APN 1 30,829,951 (GRCm38) missense probably damaging 1.00
IGL02156:Phf3 APN 1 30,808,778 (GRCm38) missense probably damaging 1.00
IGL02576:Phf3 APN 1 30,830,036 (GRCm38) missense probably benign 0.01
IGL03031:Phf3 APN 1 30,804,653 (GRCm38) missense probably benign 0.00
IGL03334:Phf3 APN 1 30,805,729 (GRCm38) missense probably damaging 0.99
IGL03411:Phf3 APN 1 30,804,401 (GRCm38) missense probably damaging 1.00
FR4976:Phf3 UTSW 1 30,805,023 (GRCm38) utr 3 prime probably benign
PIT4458001:Phf3 UTSW 1 30,816,541 (GRCm38) missense probably damaging 1.00
R0037:Phf3 UTSW 1 30,804,918 (GRCm38) missense probably benign 0.03
R0052:Phf3 UTSW 1 30,808,767 (GRCm38) missense probably damaging 1.00
R0114:Phf3 UTSW 1 30,805,443 (GRCm38) missense possibly damaging 0.87
R0123:Phf3 UTSW 1 30,805,065 (GRCm38) missense probably benign 0.01
R0225:Phf3 UTSW 1 30,805,065 (GRCm38) missense probably benign 0.01
R0715:Phf3 UTSW 1 30,811,838 (GRCm38) missense probably damaging 1.00
R0835:Phf3 UTSW 1 30,830,551 (GRCm38) missense probably benign 0.02
R1473:Phf3 UTSW 1 30,805,940 (GRCm38) missense probably damaging 1.00
R1522:Phf3 UTSW 1 30,805,648 (GRCm38) missense probably benign 0.05
R1549:Phf3 UTSW 1 30,804,842 (GRCm38) missense probably benign 0.00
R1555:Phf3 UTSW 1 30,805,877 (GRCm38) missense possibly damaging 0.86
R1780:Phf3 UTSW 1 30,811,942 (GRCm38) missense probably damaging 1.00
R1789:Phf3 UTSW 1 30,806,206 (GRCm38) missense probably damaging 1.00
R1875:Phf3 UTSW 1 30,830,623 (GRCm38) missense possibly damaging 0.81
R1912:Phf3 UTSW 1 30,804,345 (GRCm38) missense probably damaging 1.00
R1957:Phf3 UTSW 1 30,831,520 (GRCm38) missense probably damaging 1.00
R2019:Phf3 UTSW 1 30,811,847 (GRCm38) missense probably damaging 0.99
R2259:Phf3 UTSW 1 30,804,343 (GRCm38) missense probably benign 0.20
R2305:Phf3 UTSW 1 30,805,475 (GRCm38) nonsense probably null
R2345:Phf3 UTSW 1 30,805,351 (GRCm38) nonsense probably null
R2424:Phf3 UTSW 1 30,806,349 (GRCm38) missense probably damaging 1.00
R2497:Phf3 UTSW 1 30,830,014 (GRCm38) missense probably damaging 1.00
R2504:Phf3 UTSW 1 30,810,789 (GRCm38) missense probably damaging 1.00
R3522:Phf3 UTSW 1 30,805,603 (GRCm38) missense probably damaging 1.00
R3816:Phf3 UTSW 1 30,805,753 (GRCm38) missense probably damaging 1.00
R4152:Phf3 UTSW 1 30,831,458 (GRCm38) missense probably benign 0.13
R4403:Phf3 UTSW 1 30,804,409 (GRCm38) missense probably damaging 1.00
R4658:Phf3 UTSW 1 30,863,088 (GRCm38) missense probably damaging 1.00
R4663:Phf3 UTSW 1 30,821,215 (GRCm38) missense probably damaging 1.00
R4669:Phf3 UTSW 1 30,829,946 (GRCm38) missense probably damaging 1.00
R4706:Phf3 UTSW 1 30,805,606 (GRCm38) missense probably damaging 1.00
R4757:Phf3 UTSW 1 30,820,827 (GRCm38) missense probably damaging 1.00
R4766:Phf3 UTSW 1 30,813,939 (GRCm38) unclassified probably benign
R4786:Phf3 UTSW 1 30,816,557 (GRCm38) nonsense probably null
R5107:Phf3 UTSW 1 30,831,485 (GRCm38) missense probably benign 0.03
R5155:Phf3 UTSW 1 30,824,376 (GRCm38) missense possibly damaging 0.87
R5310:Phf3 UTSW 1 30,803,806 (GRCm38) missense probably damaging 1.00
R5823:Phf3 UTSW 1 30,804,683 (GRCm38) missense probably damaging 1.00
R5944:Phf3 UTSW 1 30,820,704 (GRCm38) missense probably damaging 1.00
R5979:Phf3 UTSW 1 30,805,746 (GRCm38) missense probably damaging 1.00
R6007:Phf3 UTSW 1 30,804,345 (GRCm38) missense probably damaging 1.00
R6024:Phf3 UTSW 1 30,863,226 (GRCm38) missense probably damaging 1.00
R6072:Phf3 UTSW 1 30,830,688 (GRCm38) missense probably benign 0.08
R6533:Phf3 UTSW 1 30,806,318 (GRCm38) missense probably damaging 1.00
R6649:Phf3 UTSW 1 30,805,023 (GRCm38) missense possibly damaging 0.75
R6653:Phf3 UTSW 1 30,805,023 (GRCm38) missense possibly damaging 0.75
R6852:Phf3 UTSW 1 30,804,630 (GRCm38) missense probably damaging 0.97
R6855:Phf3 UTSW 1 30,820,123 (GRCm38) missense probably damaging 1.00
R6862:Phf3 UTSW 1 30,813,982 (GRCm38) missense probably damaging 1.00
R6930:Phf3 UTSW 1 30,811,877 (GRCm38) missense probably damaging 1.00
R7135:Phf3 UTSW 1 30,831,109 (GRCm38) missense possibly damaging 0.61
R7323:Phf3 UTSW 1 30,813,130 (GRCm38) missense probably benign 0.01
R7352:Phf3 UTSW 1 30,804,326 (GRCm38) missense possibly damaging 0.87
R7455:Phf3 UTSW 1 30,837,158 (GRCm38) missense probably damaging 0.96
R7549:Phf3 UTSW 1 30,831,475 (GRCm38) missense probably benign 0.01
R7609:Phf3 UTSW 1 30,805,501 (GRCm38) missense probably benign 0.05
R7720:Phf3 UTSW 1 30,829,857 (GRCm38) missense probably damaging 1.00
R7745:Phf3 UTSW 1 30,804,224 (GRCm38) missense probably damaging 1.00
R8134:Phf3 UTSW 1 30,824,471 (GRCm38) missense unknown
R8264:Phf3 UTSW 1 30,831,057 (GRCm38) missense possibly damaging 0.48
R8545:Phf3 UTSW 1 30,824,310 (GRCm38) missense possibly damaging 0.48
R8821:Phf3 UTSW 1 30,821,266 (GRCm38) nonsense probably null
R8831:Phf3 UTSW 1 30,821,266 (GRCm38) nonsense probably null
R8873:Phf3 UTSW 1 30,804,692 (GRCm38) missense possibly damaging 0.74
R9101:Phf3 UTSW 1 30,803,945 (GRCm38) missense possibly damaging 0.56
R9402:Phf3 UTSW 1 30,811,847 (GRCm38) missense probably damaging 0.99
R9426:Phf3 UTSW 1 30,831,544 (GRCm38) nonsense probably null
R9594:Phf3 UTSW 1 30,829,922 (GRCm38) missense probably benign 0.07
R9707:Phf3 UTSW 1 30,829,842 (GRCm38) critical splice donor site probably null
R9803:Phf3 UTSW 1 30,830,791 (GRCm38) missense probably benign 0.16
Z1177:Phf3 UTSW 1 30,811,968 (GRCm38) critical splice acceptor site probably null
Z1177:Phf3 UTSW 1 30,805,051 (GRCm38) missense unknown
Z1177:Phf3 UTSW 1 30,804,295 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGATCATTGCTATCCAAAACAGGCAAAC -3'
(R):5'- CATGTGTGTAAGTCCCACATAACTCACTAAAA -3'

Sequencing Primer
(F):5'- TATCCAAAACAGGCAAACAGAACTG -3'
(R):5'- GTGGACTCACTGTAAAAGCATTG -3'
Posted On 2013-10-16