Incidental Mutation 'R7671:Leo1'
ID 592165
Institutional Source Beutler Lab
Gene Symbol Leo1
Ensembl Gene ENSMUSG00000042487
Gene Name Leo1, Paf1/RNA polymerase II complex component
Synonyms LOC235497
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7671 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 75441524-75466432 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75445562 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 129 (H129R)
Ref Sequence ENSEMBL: ENSMUSP00000046905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048937]
AlphaFold Q5XJE5
Predicted Effect probably benign
Transcript: ENSMUST00000048937
AA Change: H129R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000046905
Gene: ENSMUSG00000042487
AA Change: H129R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009O20Rik T A 18: 38,259,925 (GRCm38) I394N probably damaging Het
4930435E12Rik C T 16: 38,828,091 (GRCm38) D219N possibly damaging Het
4932438A13Rik T C 3: 36,943,231 (GRCm38) F1146L probably damaging Het
4933406M09Rik T C 1: 134,390,062 (GRCm38) C191R probably benign Het
Akap13 C A 7: 75,569,900 (GRCm38) T17K probably damaging Het
Ankrd29 T A 18: 12,260,986 (GRCm38) K257I probably damaging Het
Bicc1 A G 10: 70,957,167 (GRCm38) L219P probably benign Het
Boc C T 16: 44,491,849 (GRCm38) V617M Het
Ccl8 A G 11: 82,115,207 (GRCm38) probably benign Het
Col18a1 A G 10: 77,085,383 (GRCm38) L261P unknown Het
Col5a3 T A 9: 20,775,086 (GRCm38) probably null Het
Cryba4 A C 5: 112,248,173 (GRCm38) probably null Het
Csf2rb A G 15: 78,338,930 (GRCm38) Y114C probably damaging Het
Ctif T C 18: 75,472,016 (GRCm38) D484G probably damaging Het
Ctnnal1 A G 4: 56,837,848 (GRCm38) F261L probably damaging Het
Defb22 A T 2: 152,486,030 (GRCm38) N78K unknown Het
Efr3a G A 15: 65,837,434 (GRCm38) probably null Het
Elp4 G T 2: 105,904,481 (GRCm38) A3E probably damaging Het
Emilin2 A G 17: 71,273,910 (GRCm38) V607A probably benign Het
Epsti1 A G 14: 77,904,490 (GRCm38) Y2C probably damaging Het
Fam81b A C 13: 76,271,293 (GRCm38) L46R probably damaging Het
Fam81b G T 13: 76,271,294 (GRCm38) L46I possibly damaging Het
Fbxo15 T A 18: 84,964,153 (GRCm38) H288Q probably damaging Het
Gabrg1 T A 5: 70,815,980 (GRCm38) N77I probably damaging Het
Ganab A G 19: 8,912,852 (GRCm38) Y715C possibly damaging Het
Hist3h2ba T C 11: 58,949,276 (GRCm38) S113P possibly damaging Het
Iqgap2 T C 13: 95,628,119 (GRCm38) D1539G probably damaging Het
Kcp T C 6: 29,496,517 (GRCm38) N633S probably benign Het
Krt6a C A 15: 101,690,543 (GRCm38) S529I unknown Het
Lmf1 G A 17: 25,579,349 (GRCm38) V55M possibly damaging Het
Mcm9 A G 10: 53,537,569 (GRCm38) S472P probably benign Het
Med27 T A 2: 29,377,938 (GRCm38) V33D Het
Mup15 C T 4: 61,438,289 (GRCm38) E80K probably benign Het
Myo18a G A 11: 77,859,420 (GRCm38) R199H Het
Nebl T A 2: 17,390,916 (GRCm38) R558* probably null Het
Olfr1121 A G 2: 87,372,269 (GRCm38) T246A probably damaging Het
Olfr1252 A T 2: 89,721,259 (GRCm38) I284K probably damaging Het
Olfr1329 A T 4: 118,916,986 (GRCm38) H160Q probably benign Het
Olfr506 T C 7: 108,612,991 (GRCm38) I228T probably damaging Het
Olfr740 G T 14: 50,453,885 (GRCm38) V278L probably benign Het
Olfr815 T C 10: 129,902,353 (GRCm38) D119G probably damaging Het
Olfr890 A T 9: 38,143,440 (GRCm38) M97L probably benign Het
Pde11a A T 2: 76,215,353 (GRCm38) F376I possibly damaging Het
Prima1 A T 12: 103,235,661 (GRCm38) C52S probably damaging Het
Pxn G A 5: 115,548,547 (GRCm38) R366H not run Het
Sgce T C 6: 4,691,564 (GRCm38) Y337C probably damaging Het
Slc25a10 T A 11: 120,495,460 (GRCm38) M130K probably benign Het
Slc29a2 A T 19: 5,024,262 (GRCm38) N5I probably benign Het
Slc35a1 A T 4: 34,673,875 (GRCm38) H150Q Het
Slc5a4a T A 10: 76,147,550 (GRCm38) V7D unknown Het
Stk17b T A 1: 53,766,000 (GRCm38) D134V probably damaging Het
Thbs3 T A 3: 89,216,707 (GRCm38) S36T probably benign Het
Thsd4 A G 9: 60,428,174 (GRCm38) S152P probably benign Het
Tmem67 G T 4: 12,063,698 (GRCm38) H422N probably benign Het
Tram1 C A 1: 13,589,644 (GRCm38) V27F probably damaging Het
Trim14 A G 4: 46,507,238 (GRCm38) V326A possibly damaging Het
Other mutations in Leo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Leo1 APN 9 75,450,480 (GRCm38) splice site probably benign
IGL01412:Leo1 APN 9 75,466,242 (GRCm38) missense probably benign 0.08
IGL01789:Leo1 APN 9 75,454,614 (GRCm38) splice site probably benign
IGL02116:Leo1 APN 9 75,449,415 (GRCm38) missense probably damaging 1.00
IGL02303:Leo1 APN 9 75,445,999 (GRCm38) splice site probably benign
FR4449:Leo1 UTSW 9 75,450,573 (GRCm38) critical splice donor site probably benign
FR4976:Leo1 UTSW 9 75,450,572 (GRCm38) critical splice donor site probably benign
R0729:Leo1 UTSW 9 75,457,138 (GRCm38) missense possibly damaging 0.78
R0811:Leo1 UTSW 9 75,445,549 (GRCm38) missense probably benign 0.02
R0812:Leo1 UTSW 9 75,445,549 (GRCm38) missense probably benign 0.02
R0960:Leo1 UTSW 9 75,445,240 (GRCm38) missense probably benign 0.01
R1272:Leo1 UTSW 9 75,450,513 (GRCm38) missense possibly damaging 0.95
R1349:Leo1 UTSW 9 75,449,469 (GRCm38) missense possibly damaging 0.80
R1372:Leo1 UTSW 9 75,449,469 (GRCm38) missense possibly damaging 0.80
R1634:Leo1 UTSW 9 75,466,260 (GRCm38) missense possibly damaging 0.88
R2118:Leo1 UTSW 9 75,445,812 (GRCm38) missense probably damaging 0.99
R2167:Leo1 UTSW 9 75,445,709 (GRCm38) missense probably benign 0.01
R2484:Leo1 UTSW 9 75,445,473 (GRCm38) missense possibly damaging 0.66
R3963:Leo1 UTSW 9 75,450,480 (GRCm38) splice site probably benign
R4628:Leo1 UTSW 9 75,445,697 (GRCm38) missense probably damaging 1.00
R4935:Leo1 UTSW 9 75,445,877 (GRCm38) missense probably benign 0.13
R5590:Leo1 UTSW 9 75,457,141 (GRCm38) missense possibly damaging 0.90
R5875:Leo1 UTSW 9 75,450,560 (GRCm38) missense probably damaging 0.98
R6394:Leo1 UTSW 9 75,445,470 (GRCm38) missense probably benign 0.00
R7203:Leo1 UTSW 9 75,445,996 (GRCm38) splice site probably null
R7472:Leo1 UTSW 9 75,448,341 (GRCm38) missense probably damaging 1.00
R7654:Leo1 UTSW 9 75,455,679 (GRCm38) missense possibly damaging 0.66
R7998:Leo1 UTSW 9 75,445,276 (GRCm38) missense probably benign 0.04
R8679:Leo1 UTSW 9 75,466,262 (GRCm38) nonsense probably null
R8680:Leo1 UTSW 9 75,445,995 (GRCm38) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CTCTCATCACAGTGGCAGTG -3'
(R):5'- AGCTGCTGTCTGTCATCATC -3'

Sequencing Primer
(F):5'- GTGACAATCACTCTGAACGGTCAG -3'
(R):5'- GTCTGTCATCATCAGAAATCTGGGC -3'
Posted On 2019-11-12