Incidental Mutation 'IGL02116:Leo1'
ID280400
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Leo1
Ensembl Gene ENSMUSG00000042487
Gene NameLeo1, Paf1/RNA polymerase II complex component
SynonymsLOC235497
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02116
Quality Score
Status
Chromosome9
Chromosomal Location75441524-75466432 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 75449415 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 359 (I359K)
Ref Sequence ENSEMBL: ENSMUSP00000046905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048937]
Predicted Effect probably damaging
Transcript: ENSMUST00000048937
AA Change: I359K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046905
Gene: ENSMUSG00000042487
AA Change: I359K

DomainStartEndE-ValueType
low complexity region 10 30 N/A INTRINSIC
low complexity region 33 43 N/A INTRINSIC
low complexity region 64 78 N/A INTRINSIC
internal_repeat_1 82 160 7.97e-7 PROSPERO
internal_repeat_1 177 253 7.97e-7 PROSPERO
low complexity region 255 269 N/A INTRINSIC
low complexity region 317 330 N/A INTRINSIC
low complexity region 345 356 N/A INTRINSIC
Pfam:Leo1 375 537 5.8e-58 PFAM
low complexity region 578 584 N/A INTRINSIC
low complexity region 608 618 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213767
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LEO1, parafibromin (CDC73; MIM 607393), CTR9 (MIM 609366), and PAF1 (MIM 610506) form the PAF protein complex that associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 2005 [PubMed 15632063]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,673,590 N190K possibly damaging Het
Adamts19 T C 18: 58,837,499 S52P probably benign Het
Ahrr G T 13: 74,220,573 H160Q possibly damaging Het
Ap4s1 T C 12: 51,723,050 probably null Het
Atrn T C 2: 130,958,089 V462A probably damaging Het
D630003M21Rik T C 2: 158,203,210 S800G possibly damaging Het
Dach1 T G 14: 97,901,423 N528T probably damaging Het
Foxl2 T C 9: 98,956,058 M133T probably damaging Het
Grsf1 A G 5: 88,670,174 probably null Het
Gtpbp4 A G 13: 8,992,736 I43T probably damaging Het
Helz2 T C 2: 181,232,185 Y2172C probably damaging Het
Hey1 G T 3: 8,666,580 probably null Het
Hnrnph3 A T 10: 63,016,076 probably benign Het
Hps1 A T 19: 42,771,129 Y81* probably null Het
Inhba A G 13: 16,026,972 H373R probably benign Het
Mcoln3 A G 3: 146,133,909 N339D probably benign Het
Mrpl19 G A 6: 81,965,777 P51S probably benign Het
Nadk C A 4: 155,579,306 probably benign Het
Olfr1167 T A 2: 88,149,288 T244S probably benign Het
Olfr235 A G 19: 12,269,010 Y260C probably damaging Het
Pappa2 T G 1: 158,845,125 I1083L probably benign Het
R3hdm2 A G 10: 127,498,552 D948G probably damaging Het
Rbm15 A T 3: 107,330,280 L934Q probably damaging Het
Rec8 T A 14: 55,624,879 probably null Het
Riok1 A G 13: 38,059,956 E486G possibly damaging Het
Rptn A C 3: 93,395,097 E40A possibly damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Slc40a1 T C 1: 45,911,528 T255A probably benign Het
Slc5a8 A T 10: 88,919,500 M490L probably benign Het
Sned1 C A 1: 93,281,725 C62* probably null Het
Sptbn4 T C 7: 27,364,357 T2215A probably benign Het
Synpo T A 18: 60,603,456 R234W probably damaging Het
Tmco3 A T 8: 13,292,706 probably benign Het
Tmprss13 A G 9: 45,333,674 D250G probably benign Het
Vmn2r31 T A 7: 7,394,549 I237F probably damaging Het
Wdr90 A G 17: 25,859,492 V306A probably benign Het
Zfp629 A G 7: 127,612,718 W8R probably damaging Het
Zim1 T C 7: 6,678,254 T137A probably benign Het
Other mutations in Leo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Leo1 APN 9 75450480 splice site probably benign
IGL01412:Leo1 APN 9 75466242 missense probably benign 0.08
IGL01789:Leo1 APN 9 75454614 splice site probably benign
IGL02303:Leo1 APN 9 75445999 splice site probably benign
FR4449:Leo1 UTSW 9 75450573 critical splice donor site probably benign
FR4976:Leo1 UTSW 9 75450572 critical splice donor site probably benign
R0729:Leo1 UTSW 9 75457138 missense possibly damaging 0.78
R0811:Leo1 UTSW 9 75445549 missense probably benign 0.02
R0812:Leo1 UTSW 9 75445549 missense probably benign 0.02
R0960:Leo1 UTSW 9 75445240 missense probably benign 0.01
R1272:Leo1 UTSW 9 75450513 missense possibly damaging 0.95
R1349:Leo1 UTSW 9 75449469 missense possibly damaging 0.80
R1372:Leo1 UTSW 9 75449469 missense possibly damaging 0.80
R1634:Leo1 UTSW 9 75466260 missense possibly damaging 0.88
R2118:Leo1 UTSW 9 75445812 missense probably damaging 0.99
R2167:Leo1 UTSW 9 75445709 missense probably benign 0.01
R2484:Leo1 UTSW 9 75445473 missense possibly damaging 0.66
R3963:Leo1 UTSW 9 75450480 splice site probably benign
R4628:Leo1 UTSW 9 75445697 missense probably damaging 1.00
R4935:Leo1 UTSW 9 75445877 missense probably benign 0.13
R5590:Leo1 UTSW 9 75457141 missense possibly damaging 0.90
R5875:Leo1 UTSW 9 75450560 missense probably damaging 0.98
R6394:Leo1 UTSW 9 75445470 missense probably benign 0.00
R7203:Leo1 UTSW 9 75445996 splice site probably null
R7472:Leo1 UTSW 9 75448341 missense probably damaging 1.00
R7654:Leo1 UTSW 9 75455679 missense possibly damaging 0.66
R7671:Leo1 UTSW 9 75445562 missense probably benign 0.00
R7998:Leo1 UTSW 9 75445276 missense probably benign 0.04
Posted On2015-04-16