Incidental Mutation 'IGL02881:Phf20l1'
ID362825
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phf20l1
Ensembl Gene ENSMUSG00000072501
Gene NamePHD finger protein 20-like 1
SynonymsCGI-72, E130113K22Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.363) question?
Stock #IGL02881
Quality Score
Status
Chromosome15
Chromosomal Location66577560-66647976 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 66594980 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048188] [ENSMUST00000229160] [ENSMUST00000229576] [ENSMUST00000230882] [ENSMUST00000230948]
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: 13,555,999 probably benign Het
Aatf A G 11: 84,471,289 probably benign Het
Asap3 A T 4: 136,239,237 H542L probably benign Het
Cyp4v3 A T 8: 45,308,716 L389H probably damaging Het
Dnah17 C T 11: 118,042,118 E3605K probably damaging Het
Fry C T 5: 150,359,051 T347M probably damaging Het
Glul C A 1: 153,907,116 T191K probably benign Het
Gm6614 T C 6: 141,972,243 R636G probably benign Het
Grsf1 A T 5: 88,673,830 L125Q probably damaging Het
Hfm1 A G 5: 106,874,252 I976T probably damaging Het
Itgb5 A G 16: 33,919,905 T462A probably benign Het
Lmna G T 3: 88,502,926 R60S possibly damaging Het
Mrpl10 T A 11: 97,047,073 V89D probably damaging Het
Muc5b C T 7: 141,857,712 T1465I unknown Het
Myh15 A C 16: 49,117,265 D743A possibly damaging Het
Noxo1 C A 17: 24,699,435 L190I probably damaging Het
Noxo1 T A 17: 24,699,436 L190Q probably damaging Het
Nrn1 C A 13: 36,730,106 probably null Het
Olfr1025-ps1 A G 2: 85,918,116 S64G probably benign Het
Olfr1098 A G 2: 86,922,713 V273A possibly damaging Het
Olfr1226 T A 2: 89,193,641 Y131F probably damaging Het
Olfr170 A T 16: 19,606,300 Y123N probably damaging Het
Pfkfb4 A G 9: 109,007,296 T131A probably null Het
Pnliprp2 A G 19: 58,771,446 D363G probably benign Het
Prpf6 C T 2: 181,632,071 T336I probably benign Het
Rcc1 C T 4: 132,337,756 R139H probably benign Het
Sae1 T G 7: 16,359,118 K221N probably damaging Het
Slc45a1 T C 4: 150,638,530 K299R probably benign Het
Smad2 C A 18: 76,299,780 probably null Het
Tmem117 T C 15: 94,879,425 F152S probably damaging Het
Tmem232 C T 17: 65,450,370 C276Y probably damaging Het
Tor1b A T 2: 30,953,853 K47* probably null Het
Ttn A G 2: 76,909,803 V3464A probably benign Het
Ube3b A G 5: 114,412,884 T870A possibly damaging Het
Zscan25 T G 5: 145,290,486 L320R probably benign Het
Other mutations in Phf20l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Phf20l1 APN 15 66629035 missense probably benign 0.28
IGL00484:Phf20l1 APN 15 66615633 splice site probably benign
IGL00668:Phf20l1 APN 15 66632849 missense probably damaging 0.99
IGL00849:Phf20l1 APN 15 66636832 missense probably benign 0.00
IGL00954:Phf20l1 APN 15 66641908 missense probably damaging 1.00
IGL01025:Phf20l1 APN 15 66613132 missense probably damaging 1.00
IGL01504:Phf20l1 APN 15 66597691 missense possibly damaging 0.73
IGL02087:Phf20l1 APN 15 66628991 missense probably damaging 1.00
IGL02273:Phf20l1 APN 15 66640025 missense probably damaging 1.00
IGL02276:Phf20l1 APN 15 66615410 critical splice donor site probably null
IGL02372:Phf20l1 APN 15 66641801 missense probably damaging 1.00
IGL02589:Phf20l1 APN 15 66615632 splice site probably benign
IGL02656:Phf20l1 APN 15 66629827 missense probably damaging 1.00
IGL02691:Phf20l1 APN 15 66604864 missense probably damaging 1.00
IGL02940:Phf20l1 APN 15 66595151 missense probably damaging 1.00
IGL02943:Phf20l1 APN 15 66594884 missense probably damaging 1.00
IGL03030:Phf20l1 APN 15 66641947 utr 3 prime probably benign
IGL03034:Phf20l1 APN 15 66597403 missense probably damaging 1.00
Abbreviated UTSW 15 66632903 critical splice donor site probably null
curt UTSW 15 66639948 missense possibly damaging 0.90
shorthand UTSW 15 66609547 missense probably damaging 1.00
PIT4305001:Phf20l1 UTSW 15 66613052 missense possibly damaging 0.94
R0070:Phf20l1 UTSW 15 66639991 missense probably damaging 1.00
R0070:Phf20l1 UTSW 15 66639991 missense probably damaging 1.00
R0562:Phf20l1 UTSW 15 66609604 missense probably damaging 1.00
R0605:Phf20l1 UTSW 15 66595122 missense probably damaging 1.00
R0787:Phf20l1 UTSW 15 66615630 splice site probably benign
R1458:Phf20l1 UTSW 15 66604813 missense probably damaging 1.00
R1619:Phf20l1 UTSW 15 66615259 missense possibly damaging 0.88
R1781:Phf20l1 UTSW 15 66632825 missense probably damaging 1.00
R2360:Phf20l1 UTSW 15 66594920 missense probably damaging 1.00
R3973:Phf20l1 UTSW 15 66641816 missense probably damaging 1.00
R4374:Phf20l1 UTSW 15 66604837 missense possibly damaging 0.72
R4375:Phf20l1 UTSW 15 66615222 missense probably benign 0.00
R4554:Phf20l1 UTSW 15 66597367 missense probably damaging 1.00
R4913:Phf20l1 UTSW 15 66604855 missense probably benign 0.03
R5092:Phf20l1 UTSW 15 66636913 missense possibly damaging 0.46
R5491:Phf20l1 UTSW 15 66615785 missense possibly damaging 0.67
R5713:Phf20l1 UTSW 15 66636820 missense possibly damaging 0.85
R6126:Phf20l1 UTSW 15 66636824 missense probably benign 0.02
R6213:Phf20l1 UTSW 15 66632903 critical splice donor site probably null
R6569:Phf20l1 UTSW 15 66629824 missense probably damaging 1.00
R6572:Phf20l1 UTSW 15 66609547 missense probably damaging 1.00
R6808:Phf20l1 UTSW 15 66630913 missense probably damaging 0.99
R7100:Phf20l1 UTSW 15 66604840 missense probably benign 0.01
R7208:Phf20l1 UTSW 15 66604789 missense probably benign 0.05
R7436:Phf20l1 UTSW 15 66597750 missense possibly damaging 0.92
R7466:Phf20l1 UTSW 15 66636884 missense probably damaging 1.00
R7604:Phf20l1 UTSW 15 66604084 missense probably benign 0.02
R7863:Phf20l1 UTSW 15 66615235 missense possibly damaging 0.94
R7991:Phf20l1 UTSW 15 66630919 missense possibly damaging 0.64
R8015:Phf20l1 UTSW 15 66639948 missense possibly damaging 0.90
R8161:Phf20l1 UTSW 15 66604073 missense probably damaging 1.00
R8228:Phf20l1 UTSW 15 66639940 missense possibly damaging 0.81
R8857:Phf20l1 UTSW 15 66641932 missense probably benign 0.03
X0065:Phf20l1 UTSW 15 66597678 missense probably damaging 0.99
X0065:Phf20l1 UTSW 15 66629806 nonsense probably null
Posted On2015-12-18