Incidental Mutation 'IGL02881:Phf20l1'
ID 362825
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phf20l1
Ensembl Gene ENSMUSG00000072501
Gene Name PHD finger protein 20-like 1
Synonyms E130113K22Rik, CGI-72
Accession Numbers
Essential gene? Probably non essential (E-score: 0.211) question?
Stock # IGL02881
Quality Score
Status
Chromosome 15
Chromosomal Location 66449409-66519825 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 66466829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048188] [ENSMUST00000229160] [ENSMUST00000229576] [ENSMUST00000230882] [ENSMUST00000230948]
AlphaFold Q8CCJ9
Predicted Effect probably null
Transcript: ENSMUST00000048188
SMART Domains Protein: ENSMUSP00000035682
Gene: ENSMUSG00000072501

DomainStartEndE-ValueType
TUDOR 11 71 7.67e0 SMART
Agenet 11 73 3.53e0 SMART
Agenet 85 141 4.54e-1 SMART
TUDOR 85 141 5.75e-8 SMART
Pfam:DUF3776 210 319 1.3e-31 PFAM
Pfam:PHD20L1_u1 318 413 4.7e-47 PFAM
low complexity region 443 453 N/A INTRINSIC
low complexity region 530 543 N/A INTRINSIC
low complexity region 547 585 N/A INTRINSIC
low complexity region 598 608 N/A INTRINSIC
low complexity region 642 658 N/A INTRINSIC
PHD 683 727 8.45e-3 SMART
low complexity region 879 887 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000229160
Predicted Effect probably benign
Transcript: ENSMUST00000229576
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229590
Predicted Effect probably null
Transcript: ENSMUST00000230882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230915
Predicted Effect probably null
Transcript: ENSMUST00000230948
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik C A 8: 13,605,999 (GRCm39) probably benign Het
Aatf A G 11: 84,362,115 (GRCm39) probably benign Het
Asap3 A T 4: 135,966,548 (GRCm39) H542L probably benign Het
Cyp4v3 A T 8: 45,761,753 (GRCm39) L389H probably damaging Het
Dnah17 C T 11: 117,932,944 (GRCm39) E3605K probably damaging Het
Fry C T 5: 150,282,516 (GRCm39) T347M probably damaging Het
Glul C A 1: 153,782,862 (GRCm39) T191K probably benign Het
Grsf1 A T 5: 88,821,689 (GRCm39) L125Q probably damaging Het
Hfm1 A G 5: 107,022,118 (GRCm39) I976T probably damaging Het
Itgb5 A G 16: 33,740,275 (GRCm39) T462A probably benign Het
Lmna G T 3: 88,410,233 (GRCm39) R60S possibly damaging Het
Mrpl10 T A 11: 96,937,899 (GRCm39) V89D probably damaging Het
Muc5b C T 7: 141,411,449 (GRCm39) T1465I unknown Het
Myh15 A C 16: 48,937,628 (GRCm39) D743A possibly damaging Het
Noxo1 C A 17: 24,918,409 (GRCm39) L190I probably damaging Het
Noxo1 T A 17: 24,918,410 (GRCm39) L190Q probably damaging Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Or2aj5 A T 16: 19,425,050 (GRCm39) Y123N probably damaging Het
Or4c121 T A 2: 89,023,985 (GRCm39) Y131F probably damaging Het
Or5m13 A G 2: 85,748,460 (GRCm39) S64G probably benign Het
Or8h8 A G 2: 86,753,057 (GRCm39) V273A possibly damaging Het
Pfkfb4 A G 9: 108,836,364 (GRCm39) T131A probably null Het
Pnliprp2 A G 19: 58,759,878 (GRCm39) D363G probably benign Het
Prpf6 C T 2: 181,273,864 (GRCm39) T336I probably benign Het
Rcc1 C T 4: 132,065,067 (GRCm39) R139H probably benign Het
Sae1 T G 7: 16,093,043 (GRCm39) K221N probably damaging Het
Slc45a1 T C 4: 150,722,987 (GRCm39) K299R probably benign Het
Slco1a8 T C 6: 141,917,969 (GRCm39) R636G probably benign Het
Smad2 C A 18: 76,432,851 (GRCm39) probably null Het
Tmem117 T C 15: 94,777,306 (GRCm39) F152S probably damaging Het
Tmem232 C T 17: 65,757,365 (GRCm39) C276Y probably damaging Het
Tor1b A T 2: 30,843,865 (GRCm39) K47* probably null Het
Ttn A G 2: 76,740,147 (GRCm39) V3464A probably benign Het
Ube3b A G 5: 114,550,945 (GRCm39) T870A possibly damaging Het
Zscan25 T G 5: 145,227,296 (GRCm39) L320R probably benign Het
Other mutations in Phf20l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Phf20l1 APN 15 66,500,884 (GRCm39) missense probably benign 0.28
IGL00484:Phf20l1 APN 15 66,487,482 (GRCm39) splice site probably benign
IGL00668:Phf20l1 APN 15 66,504,698 (GRCm39) missense probably damaging 0.99
IGL00849:Phf20l1 APN 15 66,508,681 (GRCm39) missense probably benign 0.00
IGL00954:Phf20l1 APN 15 66,513,757 (GRCm39) missense probably damaging 1.00
IGL01025:Phf20l1 APN 15 66,484,981 (GRCm39) missense probably damaging 1.00
IGL01504:Phf20l1 APN 15 66,469,540 (GRCm39) missense possibly damaging 0.73
IGL02087:Phf20l1 APN 15 66,500,840 (GRCm39) missense probably damaging 1.00
IGL02273:Phf20l1 APN 15 66,511,874 (GRCm39) missense probably damaging 1.00
IGL02276:Phf20l1 APN 15 66,487,259 (GRCm39) critical splice donor site probably null
IGL02372:Phf20l1 APN 15 66,513,650 (GRCm39) missense probably damaging 1.00
IGL02589:Phf20l1 APN 15 66,487,481 (GRCm39) splice site probably benign
IGL02656:Phf20l1 APN 15 66,501,676 (GRCm39) missense probably damaging 1.00
IGL02691:Phf20l1 APN 15 66,476,713 (GRCm39) missense probably damaging 1.00
IGL02940:Phf20l1 APN 15 66,467,000 (GRCm39) missense probably damaging 1.00
IGL02943:Phf20l1 APN 15 66,466,733 (GRCm39) missense probably damaging 1.00
IGL03030:Phf20l1 APN 15 66,513,796 (GRCm39) utr 3 prime probably benign
IGL03034:Phf20l1 APN 15 66,469,252 (GRCm39) missense probably damaging 1.00
Abbreviated UTSW 15 66,504,752 (GRCm39) critical splice donor site probably null
acadia UTSW 15 66,508,669 (GRCm39) missense possibly damaging 0.85
curt UTSW 15 66,511,797 (GRCm39) missense possibly damaging 0.90
Cut UTSW 15 66,484,888 (GRCm39) nonsense probably null
shorthand UTSW 15 66,481,396 (GRCm39) missense probably damaging 1.00
slang UTSW 15 66,513,781 (GRCm39) missense probably benign 0.03
PIT4305001:Phf20l1 UTSW 15 66,484,901 (GRCm39) missense possibly damaging 0.94
R0070:Phf20l1 UTSW 15 66,511,840 (GRCm39) missense probably damaging 1.00
R0070:Phf20l1 UTSW 15 66,511,840 (GRCm39) missense probably damaging 1.00
R0562:Phf20l1 UTSW 15 66,481,453 (GRCm39) missense probably damaging 1.00
R0605:Phf20l1 UTSW 15 66,466,971 (GRCm39) missense probably damaging 1.00
R0787:Phf20l1 UTSW 15 66,487,479 (GRCm39) splice site probably benign
R1458:Phf20l1 UTSW 15 66,476,662 (GRCm39) missense probably damaging 1.00
R1619:Phf20l1 UTSW 15 66,487,108 (GRCm39) missense possibly damaging 0.88
R1781:Phf20l1 UTSW 15 66,504,674 (GRCm39) missense probably damaging 1.00
R2360:Phf20l1 UTSW 15 66,466,769 (GRCm39) missense probably damaging 1.00
R3973:Phf20l1 UTSW 15 66,513,665 (GRCm39) missense probably damaging 1.00
R4374:Phf20l1 UTSW 15 66,476,686 (GRCm39) missense possibly damaging 0.72
R4375:Phf20l1 UTSW 15 66,487,071 (GRCm39) missense probably benign 0.00
R4554:Phf20l1 UTSW 15 66,469,216 (GRCm39) missense probably damaging 1.00
R4913:Phf20l1 UTSW 15 66,476,704 (GRCm39) missense probably benign 0.03
R5092:Phf20l1 UTSW 15 66,508,762 (GRCm39) missense possibly damaging 0.46
R5491:Phf20l1 UTSW 15 66,487,634 (GRCm39) missense possibly damaging 0.67
R5713:Phf20l1 UTSW 15 66,508,669 (GRCm39) missense possibly damaging 0.85
R6126:Phf20l1 UTSW 15 66,508,673 (GRCm39) missense probably benign 0.02
R6213:Phf20l1 UTSW 15 66,504,752 (GRCm39) critical splice donor site probably null
R6569:Phf20l1 UTSW 15 66,501,673 (GRCm39) missense probably damaging 1.00
R6572:Phf20l1 UTSW 15 66,481,396 (GRCm39) missense probably damaging 1.00
R6808:Phf20l1 UTSW 15 66,502,762 (GRCm39) missense probably damaging 0.99
R7100:Phf20l1 UTSW 15 66,476,689 (GRCm39) missense probably benign 0.01
R7208:Phf20l1 UTSW 15 66,476,638 (GRCm39) missense probably benign 0.05
R7436:Phf20l1 UTSW 15 66,469,599 (GRCm39) missense possibly damaging 0.92
R7466:Phf20l1 UTSW 15 66,508,733 (GRCm39) missense probably damaging 1.00
R7604:Phf20l1 UTSW 15 66,475,933 (GRCm39) missense probably benign 0.02
R7863:Phf20l1 UTSW 15 66,487,084 (GRCm39) missense possibly damaging 0.94
R7991:Phf20l1 UTSW 15 66,502,768 (GRCm39) missense possibly damaging 0.64
R8015:Phf20l1 UTSW 15 66,511,797 (GRCm39) missense possibly damaging 0.90
R8161:Phf20l1 UTSW 15 66,475,922 (GRCm39) missense probably damaging 1.00
R8228:Phf20l1 UTSW 15 66,511,789 (GRCm39) missense possibly damaging 0.81
R8857:Phf20l1 UTSW 15 66,513,781 (GRCm39) missense probably benign 0.03
R9295:Phf20l1 UTSW 15 66,513,752 (GRCm39) missense probably damaging 1.00
R9393:Phf20l1 UTSW 15 66,475,955 (GRCm39) missense probably damaging 1.00
R9442:Phf20l1 UTSW 15 66,484,888 (GRCm39) nonsense probably null
R9522:Phf20l1 UTSW 15 66,504,669 (GRCm39) missense possibly damaging 0.89
R9727:Phf20l1 UTSW 15 66,487,231 (GRCm39) missense probably benign 0.01
X0065:Phf20l1 UTSW 15 66,501,655 (GRCm39) nonsense probably null
X0065:Phf20l1 UTSW 15 66,469,527 (GRCm39) missense probably damaging 0.99
Posted On 2015-12-18