Incidental Mutation 'R5073:Dot1l'
ID 388993
Institutional Source Beutler Lab
Gene Symbol Dot1l
Ensembl Gene ENSMUSG00000061589
Gene Name DOT1 like histone lysine methyltransferase
Synonyms KMT4, mDot1
MMRRC Submission 042662-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5073 (G1)
Quality Score 204
Status Validated
Chromosome 10
Chromosomal Location 80591040-80631295 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80620480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 514 (D514G)
Ref Sequence ENSEMBL: ENSMUSP00000100973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105336] [ENSMUST00000127740] [ENSMUST00000149394] [ENSMUST00000150338]
AlphaFold Q6XZL8
Predicted Effect possibly damaging
Transcript: ENSMUST00000105336
AA Change: D514G

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000100973
Gene: ENSMUSG00000061589
AA Change: D514G

DomainStartEndE-ValueType
Pfam:DOT1 115 317 9.4e-86 PFAM
low complexity region 335 348 N/A INTRINSIC
AT_hook 407 419 4.64e-1 SMART
low complexity region 437 447 N/A INTRINSIC
coiled coil region 558 647 N/A INTRINSIC
low complexity region 917 936 N/A INTRINSIC
low complexity region 948 961 N/A INTRINSIC
low complexity region 1084 1095 N/A INTRINSIC
low complexity region 1145 1157 N/A INTRINSIC
low complexity region 1186 1198 N/A INTRINSIC
low complexity region 1436 1446 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127740
Predicted Effect probably benign
Transcript: ENSMUST00000149394
SMART Domains Protein: ENSMUSP00000127762
Gene: ENSMUSG00000061589

DomainStartEndE-ValueType
low complexity region 24 36 N/A INTRINSIC
low complexity region 65 77 N/A INTRINSIC
low complexity region 315 325 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150338
AA Change: D297G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000116581
Gene: ENSMUSG00000061589
AA Change: D297G

DomainStartEndE-ValueType
Pfam:DOT1 1 100 3.4e-37 PFAM
low complexity region 118 131 N/A INTRINSIC
AT_hook 190 202 4.64e-1 SMART
low complexity region 220 230 N/A INTRINSIC
low complexity region 371 390 N/A INTRINSIC
SCOP:d1fxkc_ 396 441 1e-3 SMART
low complexity region 700 719 N/A INTRINSIC
low complexity region 731 744 N/A INTRINSIC
low complexity region 867 878 N/A INTRINSIC
low complexity region 928 940 N/A INTRINSIC
low complexity region 969 981 N/A INTRINSIC
low complexity region 1020 1032 N/A INTRINSIC
low complexity region 1041 1055 N/A INTRINSIC
low complexity region 1060 1105 N/A INTRINSIC
low complexity region 1157 1174 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163526
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.6%
Validation Efficiency 100% (113/113)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a histone methyltransferase that methylates lysine-79 of histone H3. It is inactive against free core histones, but shows significant histone methyltransferase activity against nucleosomes. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a gene trap allele show late embryonic lethality. Mice homozygous for a null allele die by E10.5 displaying a growth arrest, abnormal yolk sac angiogenesis and heart dilation while mutant ES cells show elevated apoptosis, G2 cell cycle arrest, telomere elongation and aneuploidy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 C T 17: 24,593,274 (GRCm39) R224C probably damaging Het
Adcy8 A T 15: 64,659,207 (GRCm39) W528R probably damaging Het
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
Ahnak T A 19: 8,980,595 (GRCm39) H626Q probably benign Het
Ampd2 A T 3: 107,986,549 (GRCm39) M245K probably damaging Het
Apob G A 12: 8,055,219 (GRCm39) probably null Het
Apool C T X: 111,259,540 (GRCm39) Q60* probably null Het
Aqp1 A T 6: 55,322,520 (GRCm39) I172F probably damaging Het
Atp7a A G X: 105,153,374 (GRCm39) D1092G probably benign Het
Bcas3 A G 11: 85,261,958 (GRCm39) Y110C probably damaging Het
Brpf1 T C 6: 113,287,215 (GRCm39) S148P probably damaging Het
Capn3 A G 2: 120,322,301 (GRCm39) H339R probably damaging Het
Ccdc141 A T 2: 76,954,722 (GRCm39) probably null Het
Ccl2 A G 11: 81,927,984 (GRCm39) probably benign Het
Cct8l1 G A 5: 25,721,881 (GRCm39) V199I probably benign Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cit T A 5: 116,084,902 (GRCm39) M811K probably benign Het
Crim1 T C 17: 78,588,776 (GRCm39) C284R possibly damaging Het
Cyp2d10 C T 15: 82,287,954 (GRCm39) R383H probably benign Het
Cyp4a29 A G 4: 115,104,860 (GRCm39) T123A probably benign Het
Dbndd2 A G 2: 164,332,224 (GRCm39) probably benign Het
Dnaja3 A T 16: 4,514,289 (GRCm39) T274S probably damaging Het
Dysf A T 6: 84,114,254 (GRCm39) K1226M probably damaging Het
Eef1akmt1 A G 14: 57,803,464 (GRCm39) L30P probably damaging Het
Elavl1 A G 8: 4,351,741 (GRCm39) M125T possibly damaging Het
Eml4 C A 17: 83,771,006 (GRCm39) S723R probably damaging Het
Fgf15 A C 7: 144,450,576 (GRCm39) Y54S possibly damaging Het
Fign A T 2: 63,810,037 (GRCm39) L411* probably null Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Fryl G A 5: 73,232,110 (GRCm39) P1550L probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gprasp2 C T X: 134,743,346 (GRCm39) T235I possibly damaging Het
H2ab3 T C X: 119,222,543 (GRCm39) T84A probably damaging Het
Hal A T 10: 93,349,904 (GRCm39) I555F probably damaging Het
Hdac6 A G X: 7,811,036 (GRCm39) F104L probably damaging Het
Hibadh C T 6: 52,597,079 (GRCm39) V122M possibly damaging Het
Hmga1b C T 11: 120,654,012 (GRCm39) Q100* probably null Het
Hydin A G 8: 111,265,105 (GRCm39) N2763D probably benign Het
Ifi47 A G 11: 48,986,361 (GRCm39) T43A probably benign Het
Ifnlr1 A G 4: 135,432,457 (GRCm39) T298A probably benign Het
Impdh2 G A 9: 108,440,535 (GRCm39) probably null Het
Insr A G 8: 3,209,475 (GRCm39) F1203L probably damaging Het
Kcnq4 A G 4: 120,574,714 (GRCm39) S117P probably damaging Het
Kif19a G A 11: 114,658,053 (GRCm39) M37I probably benign Het
Kif1a T C 1: 92,950,227 (GRCm39) H1400R probably damaging Het
Kiss1r C A 10: 79,754,596 (GRCm39) S30* probably null Het
Krt222 T A 11: 99,134,796 (GRCm39) probably benign Het
Lekr1 A T 3: 65,727,215 (GRCm39) noncoding transcript Het
Ltn1 A G 16: 87,224,628 (GRCm39) V32A probably damaging Het
Marchf1 T A 8: 66,839,020 (GRCm39) W21R probably benign Het
Marchf5 A G 19: 37,188,207 (GRCm39) N58S possibly damaging Het
Mast4 G A 13: 102,875,391 (GRCm39) Q1158* probably null Het
Mib2 C G 4: 155,741,233 (GRCm39) A535P probably damaging Het
Mrtfa A G 15: 80,906,627 (GRCm39) V91A probably damaging Het
Msc C T 1: 14,824,537 (GRCm39) V178M probably benign Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Muc5b A T 7: 141,412,999 (GRCm39) T1982S unknown Het
Mvk A T 5: 114,591,013 (GRCm39) probably benign Het
Myo1a T C 10: 127,543,288 (GRCm39) probably null Het
Myo6 T G 9: 80,195,290 (GRCm39) S887A probably benign Het
Myo7a G A 7: 97,722,425 (GRCm39) Q1167* probably null Het
Ncald A T 15: 37,397,478 (GRCm39) H67Q probably damaging Het
Nmnat1 C A 4: 149,553,595 (GRCm39) M172I probably benign Het
Nudt1 G T 5: 140,317,662 (GRCm39) probably null Het
Nudt5 T A 2: 5,869,198 (GRCm39) H141Q probably benign Het
Or1m1 T C 9: 18,666,118 (GRCm39) E271G possibly damaging Het
Or4e1 T A 14: 52,701,032 (GRCm39) M118L probably damaging Het
Or8h10 A T 2: 86,808,666 (GRCm39) V158D possibly damaging Het
Parp14 A T 16: 35,655,077 (GRCm39) I1798K probably damaging Het
Pcdhga7 A G 18: 37,849,025 (GRCm39) D344G probably damaging Het
Pck1 A G 2: 172,998,770 (GRCm39) T343A probably benign Het
Pik3c2g T A 6: 139,665,873 (GRCm39) C65S probably null Het
Pilra A G 5: 137,833,674 (GRCm39) F131L probably damaging Het
Ppl A T 16: 4,906,742 (GRCm39) S1184R probably benign Het
Prmt2 C T 10: 76,058,390 (GRCm39) V140I probably damaging Het
Prpf38b A G 3: 108,818,484 (GRCm39) F92S probably damaging Het
Psmc3 A G 2: 90,884,915 (GRCm39) probably benign Het
Ptgs1 A T 2: 36,141,272 (GRCm39) N573I probably damaging Het
Rgs9 C A 11: 109,118,157 (GRCm39) A332S probably benign Het
Rptor T C 11: 119,787,305 (GRCm39) I1290T possibly damaging Het
Slc38a7 C A 8: 96,568,278 (GRCm39) R369L probably damaging Het
Slc4a2 G A 5: 24,643,760 (GRCm39) S855N probably benign Het
Slco2a1 G T 9: 102,923,925 (GRCm39) L46F probably damaging Het
Snrpd3 G T 10: 75,355,227 (GRCm39) C20F possibly damaging Het
Stab2 A T 10: 86,699,422 (GRCm39) I481N probably benign Het
Tbc1d9 A G 8: 83,960,176 (GRCm39) E143G probably damaging Het
Tenm2 T A 11: 35,959,208 (GRCm39) T1114S probably damaging Het
Tg A C 15: 66,607,101 (GRCm39) M213L probably benign Het
Tnc A G 4: 63,938,648 (GRCm39) C64R probably damaging Het
Tpd52l1 A G 10: 31,233,916 (GRCm39) L79S probably damaging Het
Tpp2 C A 1: 43,993,896 (GRCm39) S260R possibly damaging Het
Tppp2 G A 14: 52,157,912 (GRCm39) R119Q probably benign Het
Tshz2 A T 2: 169,804,493 (GRCm39) probably benign Het
Tuba8 T C 6: 121,199,862 (GRCm39) V182A probably damaging Het
Ufl1 A G 4: 25,254,780 (GRCm39) Y559H probably benign Het
Usp53 A T 3: 122,727,595 (GRCm39) S996T probably benign Het
Vcam1 A G 3: 115,918,037 (GRCm39) V308A probably damaging Het
Wdr17 T A 8: 55,143,271 (GRCm39) probably null Het
Wdr6 G A 9: 108,451,565 (GRCm39) H773Y probably damaging Het
Wnk4 T G 11: 101,152,014 (GRCm39) F173V probably damaging Het
Xrcc5 T C 1: 72,378,188 (GRCm39) Y395H probably damaging Het
Zcwpw1 T A 5: 137,793,781 (GRCm39) M1K probably null Het
Zfp263 A G 16: 3,564,704 (GRCm39) R240G possibly damaging Het
Zfp652 A G 11: 95,640,890 (GRCm39) I272V possibly damaging Het
Other mutations in Dot1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01836:Dot1l APN 10 80,621,700 (GRCm39) missense probably benign 0.00
IGL01915:Dot1l APN 10 80,616,728 (GRCm39) missense probably damaging 0.99
IGL02287:Dot1l APN 10 80,600,443 (GRCm39) missense possibly damaging 0.66
IGL02695:Dot1l APN 10 80,613,442 (GRCm39) missense probably damaging 1.00
IGL03058:Dot1l APN 10 80,626,831 (GRCm39) missense probably benign 0.00
IGL03071:Dot1l APN 10 80,624,513 (GRCm39) missense probably benign 0.00
IGL03120:Dot1l APN 10 80,622,107 (GRCm39) splice site probably benign
R0220:Dot1l UTSW 10 80,621,692 (GRCm39) missense probably damaging 0.99
R1342:Dot1l UTSW 10 80,621,859 (GRCm39) missense probably benign 0.14
R1701:Dot1l UTSW 10 80,626,576 (GRCm39) missense possibly damaging 0.93
R1862:Dot1l UTSW 10 80,619,373 (GRCm39) missense probably damaging 1.00
R2094:Dot1l UTSW 10 80,621,712 (GRCm39) missense probably damaging 1.00
R2308:Dot1l UTSW 10 80,624,903 (GRCm39) missense probably damaging 1.00
R4274:Dot1l UTSW 10 80,619,822 (GRCm39) critical splice donor site probably null
R4617:Dot1l UTSW 10 80,620,918 (GRCm39) missense probably damaging 0.97
R4623:Dot1l UTSW 10 80,617,984 (GRCm39) missense probably benign 0.18
R4690:Dot1l UTSW 10 80,622,016 (GRCm39) nonsense probably null
R5009:Dot1l UTSW 10 80,607,030 (GRCm39) missense probably benign 0.25
R5072:Dot1l UTSW 10 80,620,480 (GRCm39) missense possibly damaging 0.83
R5074:Dot1l UTSW 10 80,620,480 (GRCm39) missense possibly damaging 0.83
R5305:Dot1l UTSW 10 80,626,627 (GRCm39) missense probably benign 0.03
R5312:Dot1l UTSW 10 80,620,471 (GRCm39) missense possibly damaging 0.94
R5512:Dot1l UTSW 10 80,624,825 (GRCm39) missense possibly damaging 0.92
R5551:Dot1l UTSW 10 80,619,462 (GRCm39) small deletion probably benign
R5552:Dot1l UTSW 10 80,619,462 (GRCm39) small deletion probably benign
R5553:Dot1l UTSW 10 80,619,462 (GRCm39) small deletion probably benign
R6056:Dot1l UTSW 10 80,621,929 (GRCm39) missense probably damaging 0.96
R6207:Dot1l UTSW 10 80,622,277 (GRCm39) missense probably benign 0.06
R6419:Dot1l UTSW 10 80,627,315 (GRCm39) missense possibly damaging 0.85
R6782:Dot1l UTSW 10 80,625,224 (GRCm39) missense probably damaging 1.00
R7054:Dot1l UTSW 10 80,622,857 (GRCm39) missense probably damaging 0.99
R7071:Dot1l UTSW 10 80,628,079 (GRCm39) missense probably benign 0.01
R7097:Dot1l UTSW 10 80,626,560 (GRCm39) missense probably damaging 0.98
R7131:Dot1l UTSW 10 80,628,175 (GRCm39) missense unknown
R7459:Dot1l UTSW 10 80,609,007 (GRCm39) missense probably damaging 0.96
R7687:Dot1l UTSW 10 80,625,202 (GRCm39) missense possibly damaging 0.70
R7741:Dot1l UTSW 10 80,619,378 (GRCm39) missense probably damaging 1.00
R8513:Dot1l UTSW 10 80,627,260 (GRCm39) missense possibly damaging 0.93
R8830:Dot1l UTSW 10 80,607,033 (GRCm39) missense possibly damaging 0.68
R8881:Dot1l UTSW 10 80,621,429 (GRCm39) missense probably damaging 1.00
R9069:Dot1l UTSW 10 80,626,560 (GRCm39) missense probably damaging 0.98
R9438:Dot1l UTSW 10 80,627,120 (GRCm39) missense probably benign
R9439:Dot1l UTSW 10 80,621,438 (GRCm39) missense possibly damaging 0.71
R9664:Dot1l UTSW 10 80,624,361 (GRCm39) missense probably damaging 1.00
R9671:Dot1l UTSW 10 80,620,613 (GRCm39) missense probably damaging 1.00
R9727:Dot1l UTSW 10 80,628,382 (GRCm39) missense unknown
R9787:Dot1l UTSW 10 80,600,472 (GRCm39) missense probably benign 0.06
X0066:Dot1l UTSW 10 80,624,518 (GRCm39) missense probably damaging 1.00
X0066:Dot1l UTSW 10 80,624,517 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CCCACATTGTGAGAAAAGCTG -3'
(R):5'- TGGAACAGCCTGCGGATTTC -3'

Sequencing Primer
(F):5'- ATGGACCTGCAGCAAGC -3'
(R):5'- CTTCCTTTTGGGCCTGGCAATG -3'
Posted On 2016-06-06