Incidental Mutation 'IGL03071:Dot1l'
ID 417524
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dot1l
Ensembl Gene ENSMUSG00000061589
Gene Name DOT1 like histone lysine methyltransferase
Synonyms KMT4, mDot1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03071
Quality Score
Status
Chromosome 10
Chromosomal Location 80591040-80631295 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80624513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 994 (S994P)
Ref Sequence ENSEMBL: ENSMUSP00000100973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105336] [ENSMUST00000127740] [ENSMUST00000149394] [ENSMUST00000150338]
AlphaFold Q6XZL8
Predicted Effect probably benign
Transcript: ENSMUST00000105336
AA Change: S994P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000100973
Gene: ENSMUSG00000061589
AA Change: S994P

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: ENSMUST00000138505
SMART Domains Protein: ENSMUSP00000119492
Gene: ENSMUSG00000061589

DomainStartEndE-ValueType
low complexity region 24 43 N/A INTRINSIC
low complexity region 52 64 N/A INTRINSIC
low complexity region 73 87 N/A INTRINSIC
low complexity region 92 137 N/A INTRINSIC
low complexity region 189 206 N/A INTRINSIC
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: S777P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000116581
Gene: ENSMUSG00000061589
AA Change: S777P

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
Coding Region Coverage
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T A 8: 41,278,104 (GRCm39) L165H probably benign Het
Ahnak T C 19: 8,989,282 (GRCm39) I3522T possibly damaging Het
Anks1 G A 17: 28,227,173 (GRCm39) A609T probably benign Het
Apaf1 T C 10: 90,833,117 (GRCm39) D1138G possibly damaging Het
Appl2 T C 10: 83,476,970 (GRCm39) probably null Het
Arhgef19 A T 4: 140,976,313 (GRCm39) I385F possibly damaging Het
Cby3 A G 11: 50,250,343 (GRCm39) D183G probably damaging Het
Ccdc134 G A 15: 82,018,826 (GRCm39) V119M possibly damaging Het
Ccdc180 G T 4: 45,903,840 (GRCm39) probably benign Het
Clec2d T C 6: 129,160,165 (GRCm39) S60P probably benign Het
Cts6 A T 13: 61,350,064 (GRCm39) F6I probably damaging Het
Cyyr1 G A 16: 85,262,449 (GRCm39) H103Y probably damaging Het
Dop1a T A 9: 86,371,668 (GRCm39) S120T possibly damaging Het
Eya4 T G 10: 23,198,971 (GRCm39) D3A probably benign Het
Fhip2b A G 14: 70,823,649 (GRCm39) C574R probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gria1 A T 11: 56,902,936 (GRCm39) probably null Het
Hectd1 T C 12: 51,815,957 (GRCm39) T1377A probably benign Het
Magi3 T G 3: 103,923,202 (GRCm39) K1172Q possibly damaging Het
Map3k1 A C 13: 111,892,059 (GRCm39) D1065E possibly damaging Het
Mindy4b-ps A T 3: 58,717,158 (GRCm39) V242D probably damaging Het
Mrgpra3 T C 7: 47,238,929 (GRCm39) probably benign Het
Mroh9 C A 1: 162,866,766 (GRCm39) G657C probably damaging Het
Ogfod1 T C 8: 94,784,395 (GRCm39) W318R probably damaging Het
Or10j5 A G 1: 172,784,502 (GRCm39) T47A probably benign Het
Pacsin3 G A 2: 91,090,837 (GRCm39) R48H probably damaging Het
Plcb1 A G 2: 135,229,722 (GRCm39) E1114G probably damaging Het
Prkdc T G 16: 15,617,848 (GRCm39) D3226E probably benign Het
Prl4a1 A T 13: 28,204,246 (GRCm39) E96V probably benign Het
Robo4 T C 9: 37,315,580 (GRCm39) probably benign Het
Scn7a G A 2: 66,530,291 (GRCm39) L685F possibly damaging Het
Spata1 A G 3: 146,181,089 (GRCm39) Y290H possibly damaging Het
Tex10 T C 4: 48,452,946 (GRCm39) D671G probably benign Het
Tifa T G 3: 127,590,728 (GRCm39) Y166* probably null Het
Tnfsf10 G A 3: 27,389,769 (GRCm39) D277N probably damaging Het
Tram1 A T 1: 13,649,998 (GRCm39) Y75* probably null Het
Vmn1r60 T A 7: 5,547,368 (GRCm39) N244I probably damaging Het
Xpo4 A G 14: 57,855,685 (GRCm39) I248T possibly damaging Het
Zc2hc1a A G 3: 7,589,182 (GRCm39) probably benign Het
Zfp386 T A 12: 116,022,760 (GRCm39) H124Q probably benign 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
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
R5073: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
Posted On 2016-08-02