Mutagenetix > Incidental Mutation

Incidental Mutation 'R7131:Dot1l'

552672

Institutional Source

Beutler Lab

Gene Symbol

Dot1l

Ensembl Gene

ENSMUSG00000061589

Gene Name

DOT1 like histone lysine methyltransferase

Synonyms

KMT4, mDot1

MMRRC Submission

045216-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7131 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80591040-80631295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80628175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1071 (H1071R)

Ref Sequence

ENSEMBL: ENSMUSP00000116581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036805] [ENSMUST00000105336] [ENSMUST00000127740] [ENSMUST00000149394] [ENSMUST00000150338] [ENSMUST00000219378] [ENSMUST00000219959]

AlphaFold

Q6XZL8

Predicted Effect

probably benign
Transcript: ENSMUST00000036805

SMART Domains

Protein: ENSMUSP00000042334
Gene: ENSMUSG00000035278

Domain	Start	End	E-Value	Type
PH	16	110	1.48e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105336

SMART Domains

Protein: ENSMUSP00000100973
Gene: ENSMUSG00000061589

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

SMART Domains

Protein: ENSMUSP00000119492
Gene: ENSMUSG00000061589
AA Change: H102R

Domain	Start	End	E-Value	Type
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

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

unknown
Transcript: ENSMUST00000150338
AA Change: H1071R

SMART Domains

Protein: ENSMUSP00000116581
Gene: ENSMUSG00000061589
AA Change: H1071R

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

probably benign
Transcript: ENSMUST00000219378

Predicted Effect

probably benign
Transcript: ENSMUST00000219959

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	G	4: 144,396,637 (GRCm39)	V365A	probably damaging	Het
Abca13	A	G	11: 9,241,893 (GRCm39)	N1252S	probably benign	Het
Abcc3	A	T	11: 94,255,857 (GRCm39)	F543I	probably damaging	Het
Adam15	T	A	3: 89,254,287 (GRCm39)	Q170L	possibly damaging	Het
Aldoc	A	G	11: 78,215,282 (GRCm39)	I19V	possibly damaging	Het
Aoc1l1	T	A	6: 48,953,306 (GRCm39)	Y410*	probably null	Het
Atrip	T	C	9: 108,889,488 (GRCm39)	I711M	probably benign	Het
Brwd1	A	C	16: 95,867,698 (GRCm39)	L149R	probably damaging	Het
Capn9	A	T	8: 125,303,017 (GRCm39)	D45V	probably damaging	Het
Card9	G	A	2: 26,248,847 (GRCm39)	R101C	probably damaging	Het
Ccdc87	A	G	19: 4,891,785 (GRCm39)	E759G	probably damaging	Het
Ccn1	T	C	3: 145,354,536 (GRCm39)	D125G	probably damaging	Het
Cep250	T	C	2: 155,806,997 (GRCm39)	M193T	probably damaging	Het
Cfap54	T	C	10: 92,656,966 (GRCm39)	K3029E	probably benign	Het
Chrna9	G	A	5: 66,134,484 (GRCm39)	G445D	possibly damaging	Het
Cluap1	C	T	16: 3,758,639 (GRCm39)	S367L	probably benign	Het
Col5a1	A	G	2: 27,819,498 (GRCm39)	D200G	unknown	Het
Crhr2	T	C	6: 55,069,112 (GRCm39)	N388D		Het
Cyp2b23	A	G	7: 26,380,838 (GRCm39)	L129P	probably benign	Het
Dctd	A	G	8: 48,565,075 (GRCm39)	S67G	probably benign	Het
Dhtkd1	C	G	2: 5,908,881 (GRCm39)	V738L	probably benign	Het
Dnah17	C	T	11: 117,970,484 (GRCm39)	D2173N	probably benign	Het
Dnah7c	G	T	1: 46,720,932 (GRCm39)	A2819S	probably benign	Het
Dnai7	A	T	6: 145,123,132 (GRCm39)	L578Q	probably null	Het
Dync2h1	T	A	9: 7,075,786 (GRCm39)	D3027V	probably damaging	Het
Efl1	A	G	7: 82,307,272 (GRCm39)	Y56C	probably damaging	Het
Eif4e1b	A	T	13: 54,931,913 (GRCm39)	R29W	probably null	Het
Evc2	A	G	5: 37,567,602 (GRCm39)	R860G	probably damaging	Het
Fbxl12	G	A	9: 20,555,679 (GRCm39)		probably benign	Het
Fibp	T	A	19: 5,511,519 (GRCm39)	I129N	probably damaging	Het
Folh1	G	T	7: 86,375,320 (GRCm39)	H555Q	probably damaging	Het
Gcnt4	A	T	13: 97,083,027 (GRCm39)	T108S	probably damaging	Het
H1f7	T	A	15: 98,154,250 (GRCm39)	K300*	probably null	Het
Hecw2	A	T	1: 53,904,280 (GRCm39)	V1156E	probably damaging	Het
Herc3	C	G	6: 58,864,409 (GRCm39)	A681G	probably damaging	Het
Igkv13-84	T	A	6: 68,916,764 (GRCm39)	C20*	probably null	Het
Iho1	A	T	9: 108,294,619 (GRCm39)	D98E	probably benign	Het
Iqca1l	A	G	5: 24,753,954 (GRCm39)	V435A	possibly damaging	Het
Ivd	C	A	2: 118,700,255 (GRCm39)	T94K	probably damaging	Het
Kank2	C	T	9: 21,705,975 (GRCm39)	A348T	probably benign	Het
Kcnma1	T	C	14: 23,417,562 (GRCm39)	Y889C	probably damaging	Het
Kif13b	T	C	14: 65,010,517 (GRCm39)	V1272A	probably damaging	Het
Kmt2d	GCTGCTGCT	GCTGCTGCTCCTGCTGCT	15: 98,747,497 (GRCm39)		probably benign	Het
Kmt5b	T	A	19: 3,865,412 (GRCm39)	D825E	probably benign	Het
Krt39	C	T	11: 99,411,697 (GRCm39)	A130T	probably benign	Het
Krtap4-9	C	T	11: 99,676,283 (GRCm39)	T68I	unknown	Het
Lmbr1l	A	T	15: 98,804,204 (GRCm39)	V365E	probably benign	Het
Lonp1	C	T	17: 56,924,814 (GRCm39)	R531Q	probably damaging	Het
Mecom	T	A	3: 30,035,094 (GRCm39)	H194L	probably damaging	Het
Mlx	C	T	11: 100,980,068 (GRCm39)	H188Y	probably damaging	Het
Mrps10	T	C	17: 47,685,940 (GRCm39)	S77P	probably damaging	Het
Mst1	A	G	9: 107,962,130 (GRCm39)	E716G	probably null	Het
Mttp	C	T	3: 137,821,893 (GRCm39)	V210I	probably benign	Het
Mug2	T	C	6: 122,052,206 (GRCm39)	V988A	probably damaging	Het
Ndufb6	A	G	4: 40,279,336 (GRCm39)	M1T	probably null	Het
Neurog1	A	T	13: 56,399,563 (GRCm39)	N61K	probably benign	Het
Nlrp14	A	G	7: 106,784,021 (GRCm39)	D581G	possibly damaging	Het
Nlrp4a	C	A	7: 26,149,258 (GRCm39)	N288K	probably benign	Het
Notch3	T	A	17: 32,363,191 (GRCm39)	H1264L	probably benign	Het
Or1e25	A	T	11: 73,493,562 (GRCm39)	D52V	possibly damaging	Het
Or1e34	A	T	11: 73,778,780 (GRCm39)	C139*	probably null	Het
Or3a1c	A	G	11: 74,046,606 (GRCm39)	M209V	probably benign	Het
Patl2	A	T	2: 121,952,263 (GRCm39)		probably null	Het
Pfkfb4	A	G	9: 108,836,370 (GRCm39)	T133A	probably benign	Het
Pla2g4f	T	C	2: 120,135,035 (GRCm39)	E471G	probably null	Het
Postn	T	C	3: 54,270,056 (GRCm39)	V45A	probably damaging	Het
Ppan	T	A	9: 20,802,450 (GRCm39)	V257E	possibly damaging	Het
Ptcra	C	G	17: 47,074,522 (GRCm39)	A7P	probably damaging	Het
Ptprd	C	T	4: 75,984,577 (GRCm39)	R523H	probably damaging	Het
Pycr3	A	T	15: 75,790,544 (GRCm39)	I105N	possibly damaging	Het
Rfx1	C	A	8: 84,821,708 (GRCm39)	Q815K	probably damaging	Het
Rfx3	T	A	19: 27,746,028 (GRCm39)	K668*	probably null	Het
Ryr2	A	T	13: 11,655,213 (GRCm39)	D3661E	possibly damaging	Het
Ryr2	A	G	13: 11,683,697 (GRCm39)		probably null	Het
Sec23ip	T	A	7: 128,381,364 (GRCm39)	S974T	probably damaging	Het
Semp2l2a	A	T	8: 13,886,982 (GRCm39)	W370R	probably damaging	Het
Setbp1	A	G	18: 79,130,175 (GRCm39)	F19S	probably benign	Het
Setd1a	AAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAG	7: 127,395,590 (GRCm39)		probably benign	Het
Sh3pxd2b	A	G	11: 32,372,072 (GRCm39)	K413R	probably damaging	Het
Slc39a12	T	C	2: 14,454,614 (GRCm39)	V544A	probably damaging	Het
Slc6a7	T	C	18: 61,135,274 (GRCm39)	Y418C	probably damaging	Het
Snx19	T	G	9: 30,339,189 (GRCm39)	I109S	probably damaging	Het
Spart	T	C	3: 55,029,220 (GRCm39)		probably null	Het
Sptbn2	A	T	19: 4,799,488 (GRCm39)	Q2097L	probably null	Het
Syne1	T	C	10: 5,178,221 (GRCm39)	K4751R	probably damaging	Het
Tigit	C	A	16: 43,482,615 (GRCm39)	G40C	probably damaging	Het
Tmem181a	T	A	17: 6,348,247 (GRCm39)	I264K	probably damaging	Het
Tom1	T	A	8: 75,783,877 (GRCm39)	I287N	possibly damaging	Het
Top2a	G	A	11: 98,895,008 (GRCm39)	P864L	possibly damaging	Het
Trmt44	A	T	5: 35,728,410 (GRCm39)	V290E	probably damaging	Het
Try4	T	C	6: 41,281,337 (GRCm39)	I93T	probably benign	Het
Usp24	T	A	4: 106,239,500 (GRCm39)	H1147Q	possibly damaging	Het
Uspl1	A	T	5: 149,130,745 (GRCm39)	R109S	probably benign	Het
Vav3	T	A	3: 109,571,662 (GRCm39)	F755I	probably damaging	Het
Vezt	A	T	10: 93,806,409 (GRCm39)	Y667*	probably null	Het
Vmn1r231	T	A	17: 21,110,140 (GRCm39)	L258F	possibly damaging	Het
Zfp207	T	C	11: 80,286,354 (GRCm39)	M489T	unknown	Het
Zfp462	A	G	4: 55,009,380 (GRCm39)	T449A	probably benign	Het
Zfp956	C	A	6: 47,932,781 (GRCm39)	Q19K	probably benign	Het
Zkscan8	A	T	13: 21,709,443 (GRCm39)	W152R	probably damaging	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
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
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'- ACAGGTGTCTTTACCCACGC -3'
(R):5'- CTTGACAGACAGAGAGGCATTAGC -3'

Sequencing Primer
(F):5'- GGTGCCCTCCGCCTCTG -3'
(R):5'- AGGCATTAGCAGGCTGC -3'

Posted On

2019-05-15