Mutagenetix > Incidental Mutation

Incidental Mutation 'R6797:Kmt2e'

533043

Institutional Source

Beutler Lab

Gene Symbol

Kmt2e

Ensembl Gene

ENSMUSG00000029004

Gene Name

lysine (K)-specific methyltransferase 2E

Synonyms

9530077A04Rik, 1810033J14Rik, D230038D11Rik, Mll5

MMRRC Submission

044910-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6797 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23639439-23709233 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23687505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 452 (N452D)

Ref Sequence

ENSEMBL: ENSMUSP00000110781 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094962] [ENSMUST00000115128] [ENSMUST00000146375] [ENSMUST00000196260] [ENSMUST00000196889]

AlphaFold

Q3UG20

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094962
AA Change: N452D

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000092569
Gene: ENSMUSG00000029004
AA Change: N452D

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

possibly damaging
Transcript: ENSMUST00000115128
AA Change: N452D

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110781
Gene: ENSMUSG00000029004
AA Change: N452D

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: 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: ENSMUST00000196260

SMART Domains

Protein: ENSMUSP00000143791
Gene: ENSMUSG00000029004

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196889

SMART Domains

Protein: ENSMUSP00000142568
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	2.7e-10	SMART
Blast:SET	216	327	6e-61	BLAST
Blast:SET	328	377	3e-26	BLAST

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.8%

Validation Efficiency

100% (42/42)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c18	T	A	13: 4,195,276 (GRCm39)	I61L	probably benign	Het
Angptl2	T	C	2: 33,118,277 (GRCm39)	V17A	probably benign	Het
Casp14	T	C	10: 78,550,975 (GRCm39)	D70G	possibly damaging	Het
Cckbr	A	G	7: 105,083,773 (GRCm39)	M234V	possibly damaging	Het
Cd93	T	C	2: 148,284,044 (GRCm39)	N434S	probably benign	Het
Cenpe	A	T	3: 134,943,899 (GRCm39)	Q938L	possibly damaging	Het
Col6a3	A	C	1: 90,731,810 (GRCm39)	V1481G	probably damaging	Het
Dnah5	G	T	15: 28,233,384 (GRCm39)	E248*	probably null	Het
Dnah5	G	A	15: 28,451,609 (GRCm39)	R4349Q	probably damaging	Het
F11	A	G	8: 45,706,092 (GRCm39)	Y98H	probably benign	Het
Fen1	A	G	19: 10,178,067 (GRCm39)	F126L	probably benign	Het
Gpr146	G	A	5: 139,378,795 (GRCm39)	G199D	possibly damaging	Het
Gramd1b	A	G	9: 40,219,702 (GRCm39)	I324T	probably benign	Het
H2bc12	A	T	13: 22,220,259 (GRCm39)	N68I	probably benign	Het
Hivep1	C	A	13: 42,310,557 (GRCm39)	S932R	probably benign	Het
Hk3	A	T	13: 55,158,644 (GRCm39)		probably null	Het
Hspbp1	T	A	7: 4,663,781 (GRCm39)	M355L	possibly damaging	Het
Jaml	T	C	9: 45,000,058 (GRCm39)	C77R	probably damaging	Het
Krt5	T	C	15: 101,621,076 (GRCm39)	Y57C	unknown	Het
Lipn	A	T	19: 34,058,160 (GRCm39)	M294L	probably benign	Het
Magel2	A	G	7: 62,029,907 (GRCm39)	E937G	unknown	Het
Med13l	G	A	5: 118,897,329 (GRCm39)		probably null	Het
Mrgprb8	G	A	7: 48,038,892 (GRCm39)	V188I	probably benign	Het
Ocln	T	C	13: 100,676,223 (GRCm39)	D90G	probably damaging	Het
Ofcc1	C	T	13: 40,241,423 (GRCm39)	R695Q	possibly damaging	Het
Or11h23	T	A	14: 50,948,563 (GRCm39)	Y259N	probably damaging	Het
Or52ab7	G	A	7: 102,978,328 (GRCm39)	V212I	probably benign	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Pak5	A	T	2: 135,939,454 (GRCm39)	H560Q	probably damaging	Het
Pigg	T	C	5: 108,480,694 (GRCm39)	S493P	probably damaging	Het
Ppp6r3	A	G	19: 3,564,719 (GRCm39)	W185R	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Sacs	T	A	14: 61,450,522 (GRCm39)	D4189E	probably damaging	Het
Serpinb9b	A	G	13: 33,213,467 (GRCm39)	N8S	possibly damaging	Het
Slit3	A	G	11: 35,524,779 (GRCm39)	T730A	possibly damaging	Het
Srgap3	A	T	6: 112,806,503 (GRCm39)	F53I	probably damaging	Het
Stc2	T	A	11: 31,315,351 (GRCm39)	K163*	probably null	Het
Tasor2	T	C	13: 3,626,769 (GRCm39)	I1060M	probably benign	Het
Tlk1	T	A	2: 70,568,770 (GRCm39)	K411*	probably null	Het
Ttc27	G	T	17: 75,036,883 (GRCm39)	L185F	probably benign	Het
Vmn2r102	C	T	17: 19,880,694 (GRCm39)	Q12*	probably null	Het
Vmn2r95	C	T	17: 18,672,551 (GRCm39)		probably benign	Het
Vopp1	A	G	6: 57,739,492 (GRCm39)	Y19H	possibly damaging	Het
Wdr64	T	A	1: 175,638,176 (GRCm39)		probably null	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
R6792:Kmt2e	UTSW	5	23,704,474 (GRCm39)	intron	probably benign
R6794:Kmt2e	UTSW	5	23,704,474 (GRCm39)	intron	probably benign
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'- GAATGGGACTTTTCCATGACATG -3'
(R):5'- GCTACTAATTGGAAGGCATGAAC -3'

Sequencing Primer
(F):5'- TCTATAAGTTCTAGGCCAGCCAGG -3'
(R):5'- CTAATTGGAAGGCATGAACACTTG -3'

Posted On

2018-08-29