Mutagenetix > Incidental Mutation

Incidental Mutation 'R6207:Dot1l'

503211

Institutional Source

Beutler Lab

Gene Symbol

Dot1l

Ensembl Gene

ENSMUSG00000061589

Gene Name

DOT1 like histone lysine methyltransferase

Synonyms

KMT4, mDot1

MMRRC Submission

044341-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6207 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80591040-80631295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80622277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 831 (A831V)

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: A831V

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000100973
Gene: ENSMUSG00000061589
AA Change: A831V

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: A614V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116581
Gene: ENSMUSG00000061589
AA Change: A614V

Domain	Start	End	E-Value	Type
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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	G	A	7: 126,430,065 (GRCm39)	P69S	probably damaging	Het
Abca15	A	G	7: 119,973,017 (GRCm39)	R864G	probably benign	Het
Acbd5	T	C	2: 22,959,490 (GRCm39)	C15R	possibly damaging	Het
Ahctf1	A	T	1: 179,604,955 (GRCm39)		probably null	Het
Ak3	T	A	19: 29,000,340 (GRCm39)	K190N	probably damaging	Het
B4galnt3	A	T	6: 120,183,575 (GRCm39)		probably null	Het
Calcrl	T	C	2: 84,163,874 (GRCm39)	H439R	probably benign	Het
Casp7	T	A	19: 56,429,452 (GRCm39)	D279E	possibly damaging	Het
Cckar	A	G	5: 53,857,186 (GRCm39)	V337A	probably benign	Het
Cep85l	T	C	10: 53,157,651 (GRCm39)	Y684C	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Homo
Commd7	T	C	2: 153,474,530 (GRCm39)	N23S	possibly damaging	Het
Cpne9	A	T	6: 113,271,734 (GRCm39)	I365F	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Entrep1	T	C	19: 23,950,802 (GRCm39)	E593G	probably damaging	Het
Epcam	C	A	17: 87,947,864 (GRCm39)	N111K	probably damaging	Het
Etnk1	A	G	6: 143,126,524 (GRCm39)	Q123R	probably damaging	Het
Fam170a	A	T	18: 50,415,017 (GRCm39)	E221V	probably damaging	Het
Fbl	T	C	7: 27,874,278 (GRCm39)	S88P	possibly damaging	Het
Fbxo36	T	A	1: 84,874,251 (GRCm39)	Y82*	probably null	Het
Fer1l5	A	G	1: 36,424,241 (GRCm39)	K285R	probably damaging	Het
Foxn3	G	T	12: 99,162,569 (GRCm39)	T444K	probably damaging	Het
Gak	C	T	5: 108,772,895 (GRCm39)		probably null	Het
Gprc6a	T	C	10: 51,502,931 (GRCm39)	I311V	probably benign	Het
Hrg	T	C	16: 22,773,288 (GRCm39)		probably null	Het
Htatip2	G	A	7: 49,420,567 (GRCm39)	V138I	probably benign	Het
Ighv1-4	A	T	12: 114,451,142 (GRCm39)		probably benign	Het
Kcnq2	T	C	2: 180,755,026 (GRCm39)	M174V	possibly damaging	Het
Krt39	G	T	11: 99,412,041 (GRCm39)	P15Q	probably damaging	Het
L1td1	G	A	4: 98,625,655 (GRCm39)	D617N	possibly damaging	Het
Lgalsl	T	A	11: 20,779,382 (GRCm39)	K88*	probably null	Het
Lims1	A	T	10: 58,230,386 (GRCm39)	K49M	possibly damaging	Het
Man2a1	T	C	17: 65,020,600 (GRCm39)	V792A	probably benign	Het
Mcm2	G	T	6: 88,862,844 (GRCm39)	D749E	probably benign	Het
Mdga1	G	A	17: 30,057,491 (GRCm39)	T775M	probably damaging	Het
Myb	A	G	10: 21,021,221 (GRCm39)	S403P	probably benign	Het
Nek6	T	C	2: 38,447,846 (GRCm39)	S37P	possibly damaging	Het
Or10d1b	T	C	9: 39,613,606 (GRCm39)	H153R	probably benign	Het
Or14c46	A	C	7: 85,918,968 (GRCm39)	F10V	probably damaging	Het
Or52a33	A	G	7: 103,289,209 (GRCm39)	V46A	probably benign	Het
Or56b2j	G	A	7: 104,352,818 (GRCm39)	V15M	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Prune2	T	A	19: 17,095,480 (GRCm39)	I328N	probably damaging	Het
Psap	T	A	10: 60,136,317 (GRCm39)	C484S	probably damaging	Het
Pus1	T	C	5: 110,925,580 (GRCm39)	D80G	probably benign	Het
Rasa3	T	C	8: 13,648,251 (GRCm39)	T138A	possibly damaging	Het
Scaf1	G	T	7: 44,657,047 (GRCm39)		probably benign	Het
Skap1	T	A	11: 96,594,959 (GRCm39)	Y143*	probably null	Het
Slc22a20	A	G	19: 6,035,969 (GRCm39)	L67P	probably damaging	Het
Slc25a17	T	C	15: 81,213,265 (GRCm39)	Y146C	probably damaging	Het
Slfn4	C	T	11: 83,079,951 (GRCm39)	T154I	possibly damaging	Het
Snai1	T	A	2: 167,380,229 (GRCm39)	V7D	probably damaging	Het
Snrnp200	T	A	2: 127,052,655 (GRCm39)	M84K	probably benign	Het
Spop	G	T	11: 95,362,063 (GRCm39)	K31N	possibly damaging	Het
Surf1	T	C	2: 26,804,819 (GRCm39)	T145A	probably benign	Het
Tbkbp1	T	C	11: 97,037,165 (GRCm39)	E278G	probably damaging	Het
Thumpd2	G	A	17: 81,363,266 (GRCm39)	A67V	probably damaging	Het
Timd4	A	T	11: 46,706,353 (GRCm39)	M52L	probably damaging	Het
Trav16	A	T	14: 53,981,045 (GRCm39)	N78I	probably damaging	Het
Tspan12	T	C	6: 21,799,907 (GRCm39)	T147A	probably damaging	Het
Tulp1	A	T	17: 28,577,651 (GRCm39)		probably benign	Het
Ubqlnl	A	T	7: 103,797,915 (GRCm39)	N527K	possibly damaging	Het
Ubr4	G	A	4: 139,148,559 (GRCm39)	C1681Y	probably damaging	Het
Unc13c	T	C	9: 73,665,910 (GRCm39)	K1037E	possibly damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r4	G	A	3: 64,313,926 (GRCm39)	H352Y	probably damaging	Het
Vmn2r61	A	T	7: 41,909,616 (GRCm39)	H47L	probably benign	Het
Vwa5a	A	G	9: 38,633,968 (GRCm39)	E57G	probably damaging	Het
Zfp180	A	T	7: 23,804,510 (GRCm39)	R310*	probably null	Het
Zfp672	T	C	11: 58,208,349 (GRCm39)		probably benign	Het

Other mutations in Dot1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- AAAGCAGCTACCAGTGAGC -3'
(R):5'- GCTCTGACACACTCAACTGC -3'

Sequencing Primer
(F):5'- GTGAGCCACACCCTCGG -3'
(R):5'- TGGGAATACCAGTCGCCAC -3'

Posted On

2018-02-27