Mutagenetix > Incidental Mutation

Incidental Mutation 'R6792:Kmt2e'

532631

Institutional Source

Beutler Lab

Gene Symbol

Kmt2e

Ensembl Gene

ENSMUSG00000029004

Gene Name

lysine (K)-specific methyltransferase 2E

Synonyms

9530077A04Rik, 1810033J14Rik, D230038D11Rik, Mll5

MMRRC Submission

044905-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6792 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

23639439-23709233 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

TGCCGCCGCCGCCGCCACCGCCGCCGCCGC to TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC at 23704474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143791 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088392] [ENSMUST00000094962] [ENSMUST00000115128] [ENSMUST00000126586] [ENSMUST00000146375] [ENSMUST00000196260]

AlphaFold

Q3UG20

Predicted Effect

probably benign
Transcript: ENSMUST00000088392

SMART Domains

Protein: ENSMUSP00000085734
Gene: ENSMUSG00000062604

Domain	Start	End	E-Value	Type
low complexity region	5	46	N/A	INTRINSIC
Pfam:Pkinase	79	228	1.3e-22	PFAM
Pfam:Pkinase_Tyr	79	228	1e-9	PFAM
coiled coil region	263	314	N/A	INTRINSIC
coiled coil region	339	373	N/A	INTRINSIC
low complexity region	393	406	N/A	INTRINSIC
Pfam:Pkinase	506	680	1.9e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094962

SMART Domains

Protein: ENSMUSP00000092569
Gene: ENSMUSG00000029004

Domain	Start	End	E-Value	Type
low complexity region	23	38	N/A	INTRINSIC
low complexity region	48	55	N/A	INTRINSIC
low complexity region	70	81	N/A	INTRINSIC
low complexity region	100	109	N/A	INTRINSIC
PHD	120	164	4.25e-8	SMART
SET	328	453	2.13e-26	SMART
low complexity region	487	503	N/A	INTRINSIC
low complexity region	569	582	N/A	INTRINSIC
low complexity region	854	867	N/A	INTRINSIC
low complexity region	882	908	N/A	INTRINSIC
low complexity region	933	945	N/A	INTRINSIC
low complexity region	951	960	N/A	INTRINSIC
low complexity region	1184	1197	N/A	INTRINSIC
low complexity region	1214	1237	N/A	INTRINSIC
low complexity region	1294	1312	N/A	INTRINSIC
low complexity region	1348	1367	N/A	INTRINSIC
internal_repeat_1	1434	1496	6.13e-7	PROSPERO
low complexity region	1506	1518	N/A	INTRINSIC
low complexity region	1625	1641	N/A	INTRINSIC
low complexity region	1677	1705	N/A	INTRINSIC
low complexity region	1720	1731	N/A	INTRINSIC
internal_repeat_1	1783	1842	6.13e-7	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000115128

SMART Domains

Protein: ENSMUSP00000110781
Gene: ENSMUSG00000029004

Domain	Start	End	E-Value	Type
low complexity region	23	38	N/A	INTRINSIC
low complexity region	48	55	N/A	INTRINSIC
low complexity region	70	81	N/A	INTRINSIC
low complexity region	100	109	N/A	INTRINSIC
PHD	120	164	4.25e-8	SMART
SET	328	453	2.13e-26	SMART
low complexity region	487	503	N/A	INTRINSIC
low complexity region	569	582	N/A	INTRINSIC
low complexity region	854	867	N/A	INTRINSIC
low complexity region	882	908	N/A	INTRINSIC
low complexity region	933	945	N/A	INTRINSIC
low complexity region	951	960	N/A	INTRINSIC
low complexity region	1184	1197	N/A	INTRINSIC
low complexity region	1214	1237	N/A	INTRINSIC
low complexity region	1294	1312	N/A	INTRINSIC
low complexity region	1348	1367	N/A	INTRINSIC
internal_repeat_1	1434	1496	6.13e-7	PROSPERO
low complexity region	1506	1518	N/A	INTRINSIC
low complexity region	1625	1641	N/A	INTRINSIC
low complexity region	1677	1705	N/A	INTRINSIC
low complexity region	1720	1731	N/A	INTRINSIC
internal_repeat_1	1783	1842	6.13e-7	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000126586

Predicted Effect

probably benign
Transcript: ENSMUST00000146375

SMART Domains

Protein: ENSMUSP00000142547
Gene: ENSMUSG00000029004

Domain	Start	End	E-Value	Type
low complexity region	104	117	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194010

Predicted Effect

probably benign
Transcript: ENSMUST00000196260

SMART Domains

Protein: ENSMUSP00000143791
Gene: ENSMUSG00000029004

Domain	Start	End	E-Value	Type
low complexity region	49	62	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.7%

Validation Efficiency

98% (51/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal and postnatal lethality, reduced fertility and growth, and abnormal lymphopoiesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	A	6: 128,523,292 (GRCm39)	Q1215*	probably null	Het
Aldh2	C	T	5: 121,718,712 (GRCm39)	G64R	probably damaging	Het
Atp11a	G	A	8: 12,911,939 (GRCm39)		probably benign	Het
Bcl11b	T	C	12: 107,955,993 (GRCm39)	D52G	probably damaging	Het
Bltp1	A	G	3: 37,065,715 (GRCm39)		probably null	Het
Capg	T	A	6: 72,532,537 (GRCm39)	I34K	possibly damaging	Het
Card11	T	A	5: 140,899,064 (GRCm39)	I37F	probably damaging	Het
Col27a1	G	T	4: 63,235,740 (GRCm39)	R724L	unknown	Het
Cryl1	T	C	14: 57,620,224 (GRCm39)	E47G	probably damaging	Het
Dgkb	A	T	12: 38,150,424 (GRCm39)	D70V	possibly damaging	Het
Dscam	T	C	16: 96,394,455 (GRCm39)	E1949G	probably damaging	Het
Dscam	A	G	16: 96,449,437 (GRCm39)	V1387A	probably damaging	Het
Exph5	G	A	9: 53,286,617 (GRCm39)	V1233M	possibly damaging	Het
Fat3	A	T	9: 16,286,940 (GRCm39)	V861E	probably damaging	Het
Fgfr4	T	G	13: 55,304,711 (GRCm39)	D184E	possibly damaging	Het
Fkbp14	G	T	6: 54,562,837 (GRCm39)	S49*	probably null	Het
Ginm1	T	C	10: 7,649,747 (GRCm39)	D182G	probably damaging	Het
Gk2	T	C	5: 97,603,588 (GRCm39)	I417V	probably benign	Het
Malrd1	C	T	2: 16,155,567 (GRCm39)	P1992L	unknown	Het
Mapk6	A	T	9: 75,302,830 (GRCm39)	I221N	probably damaging	Het
Mup9	A	G	4: 60,377,354 (GRCm39)	V65A	possibly damaging	Het
Myo15b	A	G	11: 115,775,923 (GRCm39)	D805G	probably damaging	Het
Nup50l	T	C	6: 96,142,096 (GRCm39)	E316G	possibly damaging	Het
Or52a5b	A	G	7: 103,417,346 (GRCm39)	I86T	possibly damaging	Het
Or8k35	A	T	2: 86,424,283 (GRCm39)	D296E	probably benign	Het
Otof	T	A	5: 30,532,978 (GRCm39)	H1588L	probably damaging	Het
Pakap	A	G	4: 57,855,880 (GRCm39)	D403G	possibly damaging	Het
Pde4a	A	G	9: 21,103,886 (GRCm39)	K145R	probably benign	Het
Pik3ap1	A	T	19: 41,310,065 (GRCm39)	D418E	probably benign	Het
Pilrb2	C	A	5: 137,866,852 (GRCm39)	R217M	possibly damaging	Het
Plcb2	T	C	2: 118,549,922 (GRCm39)	N232S	probably damaging	Het
Ppargc1b	C	A	18: 61,440,747 (GRCm39)	G724W	probably damaging	Het
Ppp2r5d	A	G	17: 47,015,782 (GRCm39)	S2P	probably benign	Het
Prr5l	T	G	2: 101,547,769 (GRCm39)	N252T	probably benign	Het
Rbmyf5	A	G	Y: 3,298,867 (GRCm39)	Y206H	possibly damaging	Homo
Rilp	A	T	11: 75,403,601 (GRCm39)	K348*	probably null	Het
Slc17a7	A	G	7: 44,824,299 (GRCm39)	E505G	possibly damaging	Het
Slc6a21	T	A	7: 44,929,309 (GRCm39)	M1K	probably null	Het
Sorcs1	T	C	19: 50,666,606 (GRCm39)	T101A	probably benign	Het
Sorl1	A	T	9: 42,010,559 (GRCm39)	V137E	probably damaging	Het
Stam2	T	C	2: 52,597,993 (GRCm39)	I270V	probably benign	Het
Synj2	G	A	17: 6,040,565 (GRCm39)	A214T	probably benign	Het
Tars3	G	T	7: 65,312,051 (GRCm39)	C321F	probably damaging	Het
Tcea1	T	A	1: 4,962,268 (GRCm39)	D229E	probably benign	Het
Tdrd9	C	T	12: 111,993,547 (GRCm39)	R692W	probably benign	Het
Tkfc	T	C	19: 10,571,888 (GRCm39)	T383A	probably benign	Het
Traf1	T	C	2: 34,846,287 (GRCm39)	D43G	probably benign	Het
Tubgcp6	C	T	15: 89,007,080 (GRCm39)		probably benign	Het
Vit	A	T	17: 78,886,828 (GRCm39)	Y152F	probably damaging	Het
Vmn1r66	A	T	7: 10,008,412 (GRCm39)	M207K	possibly damaging	Het

Other mutations in Kmt2e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00783:Kmt2e	APN	5	23,697,356 (GRCm39)	missense	probably damaging	0.99
IGL01330:Kmt2e	APN	5	23,702,946 (GRCm39)	missense	possibly damaging	0.95
IGL01457:Kmt2e	APN	5	23,707,017 (GRCm39)	missense	possibly damaging	0.62
IGL01691:Kmt2e	APN	5	23,702,089 (GRCm39)	missense	probably benign
IGL02274:Kmt2e	APN	5	23,705,758 (GRCm39)	missense	probably benign	0.00
IGL02934:Kmt2e	APN	5	23,702,882 (GRCm39)	missense	probably damaging	0.97
IGL02964:Kmt2e	APN	5	23,672,098 (GRCm39)	splice site	probably benign
IGL03011:Kmt2e	APN	5	23,702,540 (GRCm39)	missense	probably damaging	1.00
IGL03291:Kmt2e	APN	5	23,704,289 (GRCm39)	missense	probably damaging	1.00
R0035:Kmt2e	UTSW	5	23,690,619 (GRCm39)	splice site	probably benign
R0446:Kmt2e	UTSW	5	23,702,532 (GRCm39)	splice site	probably null
R0498:Kmt2e	UTSW	5	23,683,970 (GRCm39)	nonsense	probably null
R0699:Kmt2e	UTSW	5	23,678,581 (GRCm39)	missense	probably benign	0.01
R0701:Kmt2e	UTSW	5	23,678,581 (GRCm39)	missense	probably benign	0.01
R0761:Kmt2e	UTSW	5	23,708,032 (GRCm39)	nonsense	probably null
R1110:Kmt2e	UTSW	5	23,707,653 (GRCm39)	missense	probably damaging	1.00
R1295:Kmt2e	UTSW	5	23,707,402 (GRCm39)	missense	probably damaging	0.99
R1432:Kmt2e	UTSW	5	23,655,319 (GRCm39)	missense	probably benign	0.39
R1495:Kmt2e	UTSW	5	23,704,325 (GRCm39)	missense	possibly damaging	0.83
R1505:Kmt2e	UTSW	5	23,705,533 (GRCm39)	missense	probably null	0.01
R1623:Kmt2e	UTSW	5	23,687,500 (GRCm39)	missense	probably damaging	1.00
R1675:Kmt2e	UTSW	5	23,687,451 (GRCm39)	nonsense	probably null
R1691:Kmt2e	UTSW	5	23,669,847 (GRCm39)	missense	probably damaging	1.00
R1778:Kmt2e	UTSW	5	23,697,362 (GRCm39)	missense	probably damaging	1.00
R1820:Kmt2e	UTSW	5	23,678,545 (GRCm39)	missense	probably damaging	1.00
R1846:Kmt2e	UTSW	5	23,704,484 (GRCm39)	intron	probably benign
R1912:Kmt2e	UTSW	5	23,697,393 (GRCm39)	missense	probably benign	0.07
R2070:Kmt2e	UTSW	5	23,706,993 (GRCm39)	missense	probably benign
R2195:Kmt2e	UTSW	5	23,707,194 (GRCm39)	splice site	probably null
R2571:Kmt2e	UTSW	5	23,706,885 (GRCm39)	missense	probably benign	0.08
R3901:Kmt2e	UTSW	5	23,706,640 (GRCm39)	missense	probably benign	0.02
R3902:Kmt2e	UTSW	5	23,706,640 (GRCm39)	missense	probably benign	0.02
R3905:Kmt2e	UTSW	5	23,706,624 (GRCm39)	missense	probably benign	0.01
R3906:Kmt2e	UTSW	5	23,706,624 (GRCm39)	missense	probably benign	0.01
R3909:Kmt2e	UTSW	5	23,706,624 (GRCm39)	missense	probably benign	0.01
R3956:Kmt2e	UTSW	5	23,701,023 (GRCm39)	missense	probably benign	0.00
R4242:Kmt2e	UTSW	5	23,707,820 (GRCm39)	unclassified	probably benign
R4299:Kmt2e	UTSW	5	23,669,912 (GRCm39)	missense	probably damaging	1.00
R4448:Kmt2e	UTSW	5	23,669,788 (GRCm39)	missense	possibly damaging	0.80
R4528:Kmt2e	UTSW	5	23,678,556 (GRCm39)	missense	possibly damaging	0.69
R4574:Kmt2e	UTSW	5	23,697,405 (GRCm39)	missense	possibly damaging	0.60
R4719:Kmt2e	UTSW	5	23,697,313 (GRCm39)	missense	probably damaging	1.00
R4754:Kmt2e	UTSW	5	23,687,439 (GRCm39)	missense	possibly damaging	0.88
R4787:Kmt2e	UTSW	5	23,668,081 (GRCm39)	missense	possibly damaging	0.65
R4812:Kmt2e	UTSW	5	23,707,585 (GRCm39)	missense	possibly damaging	0.86
R4853:Kmt2e	UTSW	5	23,707,339 (GRCm39)	missense	probably damaging	1.00
R5138:Kmt2e	UTSW	5	23,707,693 (GRCm39)	missense	probably damaging	0.99
R5306:Kmt2e	UTSW	5	23,704,331 (GRCm39)	missense	probably damaging	0.98
R5659:Kmt2e	UTSW	5	23,702,805 (GRCm39)	missense	probably damaging	0.99
R5907:Kmt2e	UTSW	5	23,669,704 (GRCm39)	missense	probably damaging	1.00
R5920:Kmt2e	UTSW	5	23,704,440 (GRCm39)	missense	possibly damaging	0.50
R6280:Kmt2e	UTSW	5	23,704,514 (GRCm39)	missense	possibly damaging	0.48
R6353:Kmt2e	UTSW	5	23,698,243 (GRCm39)	missense	probably damaging	1.00
R6375:Kmt2e	UTSW	5	23,704,517 (GRCm39)	missense	probably benign
R6553:Kmt2e	UTSW	5	23,668,024 (GRCm39)	missense	probably damaging	0.99
R6572:Kmt2e	UTSW	5	23,702,579 (GRCm39)	missense	possibly damaging	0.66
R6678:Kmt2e	UTSW	5	23,704,293 (GRCm39)	missense	possibly damaging	0.54
R6791:Kmt2e	UTSW	5	23,704,474 (GRCm39)	intron	probably benign
R6794:Kmt2e	UTSW	5	23,704,474 (GRCm39)	intron	probably benign
R6797:Kmt2e	UTSW	5	23,687,505 (GRCm39)	missense	possibly damaging	0.82
R6947:Kmt2e	UTSW	5	23,702,543 (GRCm39)	missense	probably damaging	1.00
R7023:Kmt2e	UTSW	5	23,705,485 (GRCm39)	missense	possibly damaging	0.46
R7036:Kmt2e	UTSW	5	23,683,741 (GRCm39)	missense	probably null	1.00
R7173:Kmt2e	UTSW	5	23,669,855 (GRCm39)	missense	probably damaging	1.00
R7202:Kmt2e	UTSW	5	23,697,292 (GRCm39)	unclassified	probably benign
R7563:Kmt2e	UTSW	5	23,705,271 (GRCm39)	missense	probably damaging	1.00
R7571:Kmt2e	UTSW	5	23,683,585 (GRCm39)	missense	probably damaging	1.00
R7604:Kmt2e	UTSW	5	23,706,763 (GRCm39)	missense	not run
R7722:Kmt2e	UTSW	5	23,702,016 (GRCm39)	missense	probably benign	0.00
R7758:Kmt2e	UTSW	5	23,701,068 (GRCm39)	missense	possibly damaging	0.92
R7794:Kmt2e	UTSW	5	23,669,714 (GRCm39)	missense	probably damaging	1.00
R8137:Kmt2e	UTSW	5	23,706,952 (GRCm39)	missense	probably damaging	1.00
R8341:Kmt2e	UTSW	5	23,704,451 (GRCm39)	missense	probably damaging	0.98
R8383:Kmt2e	UTSW	5	23,690,539 (GRCm39)	missense	probably benign	0.08
R8400:Kmt2e	UTSW	5	23,702,090 (GRCm39)	missense	probably benign	0.17
R8546:Kmt2e	UTSW	5	23,686,242 (GRCm39)	missense	probably damaging	1.00
R8750:Kmt2e	UTSW	5	23,698,215 (GRCm39)	missense	probably benign
R8786:Kmt2e	UTSW	5	23,669,864 (GRCm39)	missense	probably damaging	1.00
R9211:Kmt2e	UTSW	5	23,669,770 (GRCm39)	missense	possibly damaging	0.83
R9660:Kmt2e	UTSW	5	23,683,617 (GRCm39)	missense	probably damaging	1.00
R9786:Kmt2e	UTSW	5	23,702,982 (GRCm39)	missense	probably benign	0.16
RF026:Kmt2e	UTSW	5	23,683,507 (GRCm39)	critical splice acceptor site	probably benign
RF028:Kmt2e	UTSW	5	23,683,507 (GRCm39)	critical splice acceptor site	probably benign
RF040:Kmt2e	UTSW	5	23,683,507 (GRCm39)	critical splice acceptor site	probably benign
RF042:Kmt2e	UTSW	5	23,683,507 (GRCm39)	critical splice acceptor site	probably benign
Z1177:Kmt2e	UTSW	5	23,686,206 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TTAGAATACCGTAAGAGACAACGTG -3'
(R):5'- GTGATCACCTTCAACCACTGTC -3'

Sequencing Primer
(F):5'- TACCGTAAGAGACAACGTGAAGCTAG -3'
(R):5'- GCAAACAGGTAGAAGAATTCTCTAAC -3'

Posted On

2018-08-29