Mutagenetix > Incidental Mutation

Incidental Mutation 'R6791:Kmt2e'

532577

Institutional Source

Beutler Lab

Gene Symbol

Kmt2e

Ensembl Gene

ENSMUSG00000029004

Gene Name

lysine (K)-specific methyltransferase 2E

Synonyms

9530077A04Rik, 1810033J14Rik, D230038D11Rik, Mll5

MMRRC Submission

044904-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6791 (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

100% (52/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,328,504 (GRCm39)	C3526S	probably damaging	Het
Adgrf2	T	C	17: 43,021,774 (GRCm39)	N350S	probably benign	Het
Atp12a	G	A	14: 56,624,439 (GRCm39)		probably null	Het
AW551984	T	G	9: 39,511,955 (GRCm39)	S19R	probably damaging	Het
Bet1l	A	G	7: 140,434,418 (GRCm39)	I77T	possibly damaging	Het
Cfap206	T	C	4: 34,711,414 (GRCm39)	I494M	possibly damaging	Het
Cog3	A	G	14: 75,968,118 (GRCm39)	I415T	probably damaging	Het
Col15a1	C	T	4: 47,300,518 (GRCm39)	P1060S	probably damaging	Het
Ctrb1	A	G	8: 112,415,981 (GRCm39)	V71A	possibly damaging	Het
Ddhd2	T	C	8: 26,242,242 (GRCm39)	Y211C	probably benign	Het
Fbxl20	T	C	11: 98,000,336 (GRCm39)	T128A	probably benign	Het
Fdps	A	G	3: 89,002,659 (GRCm39)		probably null	Het
Gm4302	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	10: 100,177,361 (GRCm39)		probably benign	Het
Gm8369	T	A	19: 11,489,200 (GRCm39)		probably benign	Het
Grm6	T	C	11: 50,750,601 (GRCm39)	V588A	possibly damaging	Het
Heatr6	T	C	11: 83,649,167 (GRCm39)	L174S	probably benign	Het
Kif1a	G	A	1: 92,993,859 (GRCm39)	P364S	probably damaging	Het
Klk7	A	G	7: 43,462,684 (GRCm39)	D163G	probably benign	Het
Lamb3	T	C	1: 193,017,169 (GRCm39)	S787P	possibly damaging	Het
Lrp5	C	T	19: 3,650,753 (GRCm39)	C1227Y	probably damaging	Het
Mgst1	G	A	6: 138,118,805 (GRCm39)		probably benign	Het
Mllt6	T	C	11: 97,571,428 (GRCm39)	S1022P	probably damaging	Het
Mtmr2	T	C	9: 13,716,678 (GRCm39)	I521T	probably benign	Het
Naalad2	T	C	9: 18,296,426 (GRCm39)	T75A	possibly damaging	Het
Nadsyn1	A	T	7: 143,372,845 (GRCm39)	I83N	probably damaging	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Neurl4	T	A	11: 69,799,336 (GRCm39)	L904Q	probably damaging	Het
Ngp	A	C	9: 110,249,017 (GRCm39)	I30L	probably benign	Het
Or5af1	T	C	11: 58,722,903 (GRCm39)	Y308H	probably benign	Het
Or6c5c	G	A	10: 129,299,023 (GRCm39)	M159I	probably benign	Het
Orm2	A	T	4: 63,282,196 (GRCm39)	M125L	probably benign	Het
Pax2	A	T	19: 44,777,260 (GRCm39)	D151V	possibly damaging	Het
Polg	A	G	7: 79,109,857 (GRCm39)	V382A	probably benign	Het
Ppargc1b	C	A	18: 61,440,747 (GRCm39)	G724W	probably damaging	Het
Pramel11	T	A	4: 143,622,252 (GRCm39)	I368F	probably benign	Het
Prss16	A	T	13: 22,190,237 (GRCm39)	V307E	probably damaging	Het
Prss54	T	G	8: 96,291,283 (GRCm39)		probably null	Het
Rspo1	A	G	4: 124,900,976 (GRCm39)	H108R	probably benign	Het
Sh3bp5l	C	A	11: 58,237,098 (GRCm39)	H352N	probably damaging	Het
Skor1	T	C	9: 63,047,636 (GRCm39)		probably null	Het
Smad6	A	G	9: 63,919,509 (GRCm39)	Y289H	probably benign	Het
Spart	G	A	3: 55,034,982 (GRCm39)	G456D	probably damaging	Het
Spg11	T	C	2: 121,923,924 (GRCm39)	E799G	probably damaging	Het
Tbc1d4	T	G	14: 101,845,695 (GRCm39)	K68Q	probably damaging	Het
Treml2	A	G	17: 48,616,247 (GRCm39)	M296V	probably benign	Het
Ugt2b1	C	A	5: 87,067,116 (GRCm39)	D436Y	probably damaging	Het
Usp9y	A	T	Y: 1,325,042 (GRCm39)		probably null	Homo
Vmn2r6	T	C	3: 64,445,580 (GRCm39)	Y626C	probably damaging	Het
Xpc	G	A	6: 91,483,839 (GRCm39)	A169V	probably benign	Het
Zfp131	A	G	13: 120,228,129 (GRCm39)	V506A	probably damaging	Het
Zfp74	A	G	7: 29,633,860 (GRCm39)	I616T	probably benign	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
R6792: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