Incidental Mutation 'IGL02287:Dot1l'
ID 290000
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 # IGL02287
Quality Score
Status
Chromosome 10
Chromosomal Location 80591040-80631295 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80600443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 30 (H30R)
Ref Sequence ENSEMBL: ENSMUSP00000130408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105336] [ENSMUST00000127740]
AlphaFold Q6XZL8
Predicted Effect possibly damaging
Transcript: ENSMUST00000105336
AA Change: H30R

PolyPhen 2 Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000100973
Gene: ENSMUSG00000061589
AA Change: H30R

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 noncoding transcript
Transcript: ENSMUST00000105760
Predicted Effect possibly damaging
Transcript: ENSMUST00000127740
AA Change: H30R

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147579
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: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik A G 11: 58,771,418 (GRCm39) D300G probably benign Het
Gm1818 A T 12: 48,602,505 (GRCm39) noncoding transcript Het
Isca2 G T 12: 84,820,114 (GRCm39) V14F probably benign Het
Or4a80 A T 2: 89,582,958 (GRCm39) Y71* probably null Het
Ppp4r4 A T 12: 103,553,747 (GRCm39) T402S probably benign Het
Slc25a13 T C 6: 6,216,992 (GRCm39) probably benign Het
Trrap T C 5: 144,769,348 (GRCm39) W2618R probably damaging Het
Uba7 A G 9: 107,855,426 (GRCm39) M368V 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
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
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 2015-04-16