Mutagenetix > Incidental Mutation

Incidental Mutation 'R6353:Kmt2e'

512290

Institutional Source

Beutler Lab

Gene Symbol

Kmt2e

Ensembl Gene

ENSMUSG00000029004

Gene Name

lysine (K)-specific methyltransferase 2E

Synonyms

9530077A04Rik, 1810033J14Rik, D230038D11Rik, Mll5

MMRRC Submission

044505-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6353 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23639439-23709233 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23698243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 645 (V645E)

Ref Sequence

ENSEMBL: ENSMUSP00000110781 (fasta)

Gene Model

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

AlphaFold

Q3UG20

Predicted Effect

probably damaging
Transcript: ENSMUST00000094962
AA Change: V645E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092569
Gene: ENSMUSG00000029004
AA Change: V645E

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 damaging
Transcript: ENSMUST00000115128
AA Change: V645E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110781
Gene: ENSMUSG00000029004
AA Change: V645E

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 damaging
Transcript: ENSMUST00000126586
AA Change: V20E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

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 damaging
Transcript: ENSMUST00000196260
AA Change: V125E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143791
Gene: ENSMUSG00000029004
AA Change: V125E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197591

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	C	A	9: 53,325,642 (GRCm39)	Q60K	probably benign	Het
Aadacl2fm2	A	T	3: 59,659,529 (GRCm39)	L327F	probably damaging	Het
Aamp	T	C	1: 74,319,987 (GRCm39)	D397G	probably benign	Het
Aco1	G	A	4: 40,186,367 (GRCm39)	R593Q	probably benign	Het
Acta1	T	C	8: 124,620,426 (GRCm39)	E4G	probably benign	Het
Apob	A	T	12: 8,059,421 (GRCm39)	K2601N	probably damaging	Het
Arpin	C	A	7: 79,585,093 (GRCm39)		probably benign	Het
Asnsd1	T	C	1: 53,386,938 (GRCm39)	I230V	probably benign	Het
Baiap2l1	C	T	5: 144,218,898 (GRCm39)	E237K	possibly damaging	Het
Chek1	T	C	9: 36,635,255 (GRCm39)	K43E	probably benign	Het
Clec2g	T	A	6: 128,959,895 (GRCm39)		probably null	Het
Cnot10	A	G	9: 114,426,614 (GRCm39)	L646P	probably damaging	Het
Cyp2j9	T	C	4: 96,474,135 (GRCm39)	T102A	probably benign	Het
Dnase1l2	A	T	17: 24,661,219 (GRCm39)	L30Q	probably damaging	Het
Edc3	T	C	9: 57,623,520 (GRCm39)	S152P	probably benign	Het
Gask1b	A	T	3: 79,848,647 (GRCm39)	R464S	probably damaging	Het
Gpr160	A	T	3: 30,950,171 (GRCm39)	D81V	probably damaging	Het
Intu	A	T	3: 40,608,138 (GRCm39)	D32V	probably damaging	Het
Itga5	T	C	15: 103,260,950 (GRCm39)	E512G	probably damaging	Het
Khnyn	T	C	14: 56,131,760 (GRCm39)	F561L	possibly damaging	Het
Mcoln3	T	C	3: 145,836,909 (GRCm39)	F247S	probably damaging	Het
Nek9	G	A	12: 85,348,603 (GRCm39)	T977I	probably damaging	Het
Nphs1	A	G	7: 30,173,969 (GRCm39)	T1015A	probably damaging	Het
Ntmt2	A	G	1: 163,531,680 (GRCm39)	Y158H	possibly damaging	Het
Nudcd1	T	C	15: 44,284,158 (GRCm39)	Y76C	probably damaging	Het
Or2a54	C	A	6: 43,093,070 (GRCm39)	Y131*	probably null	Het
Or8b44	T	C	9: 38,410,112 (GRCm39)	I49T	probably benign	Het
Pgd	C	T	4: 149,245,209 (GRCm39)		probably null	Het
Prl7c1	A	G	13: 27,957,709 (GRCm39)	S244P	possibly damaging	Het
Rpap1	G	T	2: 119,607,377 (GRCm39)		probably null	Het
Rrp8	G	A	7: 105,383,325 (GRCm39)	R314*	probably null	Het
Smarca4	T	A	9: 21,590,445 (GRCm39)		probably null	Het
Stambpl1	A	G	19: 34,211,520 (GRCm39)		probably null	Het
Tmeff2	T	C	1: 51,220,985 (GRCm39)	V320A	probably damaging	Het
Top2b	A	G	14: 16,416,671 (GRCm38)	K83E	probably damaging	Het
Ttc39b	C	G	4: 83,148,730 (GRCm39)	V560L	probably benign	Het
Ttn	A	T	2: 76,672,153 (GRCm39)		probably benign	Het
Usp32	T	C	11: 84,913,107 (GRCm39)	I934V	probably benign	Het
Uxs1	T	C	1: 43,836,410 (GRCm39)	I122V	probably damaging	Het
Vmn1r168	A	G	7: 23,240,944 (GRCm39)	N267S	probably benign	Het
Vmn2r16	A	G	5: 109,488,119 (GRCm39)	N331D	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
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
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'- GCACACGTGAAAACATACTTTCTG -3'
(R):5'- GCTACTGCAGTTTCAGTTTCTG -3'

Sequencing Primer
(F):5'- CCTCCCGAGTATTGGGTTCAAAG -3'
(R):5'- CAGTTTCTGGTTCTATAGCAAGTAC -3'

Posted On

2018-04-27