Incidental Mutation 'IGL00484:Phf20l1'
ID4090
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: 0.322) question?
Stock #IGL00484
Quality Score
Status
Chromosome15
Chromosomal Location66577560-66647976 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to G at 66615633 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 benign
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 benign
Transcript: ENSMUST00000229160
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229486
Predicted Effect probably benign
Transcript: ENSMUST00000229576
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230250
Predicted Effect probably benign
Transcript: ENSMUST00000230882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230915
Predicted Effect probably benign
Transcript: ENSMUST00000230948
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810013L24Rik T C 16: 8,831,311 probably benign Het
Adgra1 A G 7: 139,875,944 Q496R probably benign Het
Ankrd17 A T 5: 90,268,361 S1151T probably damaging Het
Ankrd55 A G 13: 112,367,794 K330R probably benign Het
Anln A T 9: 22,360,824 Y666* probably null Het
Atp1a2 A G 1: 172,276,002 W984R probably damaging Het
Atp8b3 G T 10: 80,526,164 probably benign Het
Casc3 A G 11: 98,823,202 E420G possibly damaging Het
Cep250 G A 2: 155,991,329 D1724N probably benign Het
Dhx15 T G 5: 52,166,812 E379D probably benign Het
Dock1 T A 7: 135,146,531 probably benign Het
Exph5 C T 9: 53,376,706 Q1696* probably null Het
Fkbp6 C A 5: 135,339,948 A213S possibly damaging Het
Fndc4 A G 5: 31,293,496 probably benign Het
Gli3 A T 13: 15,644,392 T260S possibly damaging Het
Glmp T A 3: 88,325,862 probably null Het
Gm12794 T C 4: 101,941,701 F290L probably benign Het
Gm13101 G A 4: 143,966,614 probably benign Het
Hist1h2an G T 13: 21,786,921 R100S probably benign Het
Ighv1-19 G A 12: 114,708,709 T97I probably benign Het
Kdm6b T C 11: 69,406,306 S407G possibly damaging Het
Lrp1b T C 2: 41,110,861 Y2231C probably damaging Het
Lyst T A 13: 13,709,603 S2999T probably benign Het
Lztr1 T C 16: 17,517,450 probably benign Het
N4bp2 T C 5: 65,807,524 V972A probably damaging Het
Ncoa6 A T 2: 155,406,208 S1725R probably damaging Het
Nfkbiz A G 16: 55,817,909 V396A probably benign Het
Nup205 A G 6: 35,214,802 Q1074R probably damaging Het
Pard3 T C 8: 127,371,846 V456A probably benign Het
Peli1 T A 11: 21,146,952 V114E probably damaging Het
Pik3r1 A C 13: 101,701,747 I267S probably benign Het
Polh C T 17: 46,172,243 probably benign Het
Ppl A G 16: 5,087,952 I1493T probably benign Het
Prg3 A G 2: 84,988,747 I6V probably benign Het
Ptprg T C 14: 12,215,220 V1069A probably damaging Het
Rasal2 A T 1: 157,174,175 probably null Het
Slc36a2 A T 11: 55,162,788 Y341* probably null Het
Smim4 T A 14: 31,088,922 probably benign Het
Snapc3 A G 4: 83,436,396 I215V probably damaging Het
Srrm2 T A 17: 23,818,518 S1475T probably benign Het
Sycp2 A T 2: 178,382,348 D414E probably damaging Het
Tanc1 A G 2: 59,793,176 T468A probably benign Het
Tfap2d A G 1: 19,142,881 T310A probably benign Het
Tgfbr2 T A 9: 116,158,289 I51F probably benign Het
Trip11 A T 12: 101,885,311 C546* probably null Het
Ttbk2 C T 2: 120,773,886 W210* probably null Het
Upk1b T G 16: 38,780,016 N201H possibly damaging Het
Ush2a A T 1: 188,782,513 T3180S probably benign Het
Vps13d T G 4: 145,126,575 Q2323P probably benign Het
Zfp810 A T 9: 22,278,309 Y434* probably null Het
Other mutations in Phf20l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Phf20l1 APN 15 66629035 missense probably benign 0.28
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
IGL02881:Phf20l1 APN 15 66594980 critical splice donor site probably null
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
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
R7946:Phf20l1 UTSW 15 66615235 missense possibly damaging 0.94
X0065:Phf20l1 UTSW 15 66597678 missense probably damaging 0.99
X0065:Phf20l1 UTSW 15 66629806 nonsense probably null
Posted On2012-04-20