Mutagenetix > Incidental Mutation

Incidental Mutation 'RF028:Kmt2e'

604226

Institutional Source

Beutler Lab

Gene Symbol

Kmt2e

Ensembl Gene

ENSMUSG00000029004

Gene Name

lysine (K)-specific methyltransferase 2E

Synonyms

9530077A04Rik, 1810033J14Rik, D230038D11Rik, Mll5

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

RF028 (G1)

Quality Score

129.467

Status

Not validated

Chromosome

Chromosomal Location

23639439-23709233 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

TTT to TTTTATT at 23683507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000092569 (fasta)

Gene Model

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

AlphaFold

Q3UG20

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: 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: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

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: 47 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
A030005L19Rik	GCTGTG	GCTGTGCCTCCTGTG	1: 82,891,299 (GRCm39)	probably benign	Het
A030005L19Rik	TGTGGCTGC	TGTGGCTGCCGTGGCTGC	1: 82,891,301 (GRCm39)	probably benign	Het
Acap3	TGCATCCTGGGCTGC	TGCATCCTGGGCTGCAGCATCCTGGGCTGC	4: 155,989,548 (GRCm39)	probably benign	Het
Arid1b	C	CGGG	17: 5,045,873 (GRCm39)	probably benign	Het
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTACTCCTCCTCCTCCTCCTCCTCCT	7: 80,162,653 (GRCm39)	probably null	Het
Boc	GAC	G	16: 44,316,796 (GRCm39)	probably null	Het
Cacna1f	GAG	GAGAAG	X: 7,486,299 (GRCm39)	probably benign	Het
Cacna1f	GAG	GAGAAG	X: 7,486,302 (GRCm39)	probably benign	Het
Catsper2	ATCGCTTTCCTCGTTTTCG	ATCG	2: 121,228,207 (GRCm39)	probably benign	Het
Dbr1	GAGGAG	GAGGAGTAGGAG	9: 99,465,750 (GRCm39)	probably null	Het
E4f1	CGC	CGCGGC	17: 24,674,164 (GRCm39)	probably benign	Het
Eps8	TCGCTC	TCGCTCGCTC	6: 137,494,061 (GRCm39)	probably benign	Het
Ermn	AACT	AACTACT	2: 57,938,078 (GRCm39)	probably benign	Het
Fsip2	TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA	TAGATGTGAAACTCTTAGAGGTAAGA	2: 82,824,352 (GRCm39)	probably null	Het
Gab3	CTTCTT	CTTATTCTT	X: 74,043,606 (GRCm39)	probably null	Het
Gab3	TCT	TCTGCT	X: 74,043,623 (GRCm39)	probably benign	Het
Gabre	CTC	CTCTGGGTC	X: 71,314,369 (GRCm39)	probably benign	Het
Gm7579	GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG	GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG	7: 141,765,782 (GRCm39)	probably benign	Het
Gm8369	TG	TGGGTGAG	19: 11,489,137 (GRCm39)	probably null	Het
Hsdl2	CAGCTGCAG	CAGCTGCAGCAGCAGCCATAGCTGCAG	4: 59,610,650 (GRCm39)	probably null	Het
Iqcf4	TTTTCCTTTT	TTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCGTTTCCTTTT	9: 106,447,813 (GRCm39)	probably benign	Het
Kri1	CTCCTCCT	C	9: 21,192,367 (GRCm39)	probably null	Het
Krtap28-10	AGCCACAGCCACCACAGCCACAGCCACCAC	AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC	1: 83,019,979 (GRCm39)	probably benign	Het
Lce1m	GTTGCTGCCACTG	GTTGCTGCCACTGTTGCTGCCACTG	3: 92,925,438 (GRCm39)	probably benign	Het
Loricrin	CGCCGCCT	C	3: 91,989,206 (GRCm39)	probably null	Het
Luzp1	A	AGGTGGCCTCTTCAGG	4: 136,270,507 (GRCm39)	probably benign	Het
Lypd8	CCAACA	CCAACAGGTCCCTCGCCTCTGTTACCCCACAAATAAACAACA	11: 58,281,065 (GRCm39)	probably benign	Het
Mn1	CAG	CAGGAG	5: 111,567,577 (GRCm39)	probably benign	Het
Nefh	GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGACTTGGCCTCACCTGTGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,012 (GRCm39)	probably benign	Het
Nefh	GGGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGGACTTGGCCTCACCTTGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,029 (GRCm39)	probably benign	Het
Nf2	AAAAG	A	11: 4,779,936 (GRCm39)	probably null	Het
Nusap1	AGAT	AGATCCACGTTAGCAGTGAGGAGCAAGCTGCGAT	2: 119,458,059 (GRCm39)	probably benign	Het
Nusap1	CAGTGAGGAGCAAGCTGAGA	CAGTGAGGAGCAAGCTGAGATACACGTTAGTAGTGAGGAGCAAGCTGAGA	2: 119,458,072 (GRCm39)	probably benign	Het
Phf20	CCCCCC	CCCCCCGCCCCC	2: 156,146,543 (GRCm39)	probably benign	Het
Ppp1r8	TCTCTCTCAC	TC	4: 132,557,926 (GRCm39)	probably benign	Het
Prr5l	GCCTC	G	2: 101,627,918 (GRCm39)	probably null	Het
Rbm12	CGGGACCGGGCATTGCGGGACCGGGCATTGCGGG	CGG	2: 155,938,050 (GRCm39)	probably null	Het
Rpgrip1	GA	GAGTA	14: 52,386,855 (GRCm39)	probably null	Het
Spmap2l	AGCGATCCTCCCCAGTCCCGCAAGGCC	AGCGATCCTCCCCAGTCCCGCAAGGCCCGCGATCCTCCCCAGTCCCGCAAGGCC	5: 77,164,248 (GRCm39)	probably benign	Het
Tanc1	GTGAGCAGAAACCAGCATTTAGAGGGAACCGGTCCCTTCACTGCAGGAA	G	2: 59,673,613 (GRCm39)	probably benign	Het
Tfeb	GCA	GCATCA	17: 48,097,022 (GRCm39)	probably benign	Het
Tgoln1	T	TTGTCTTGTCAGAATCACCTCCTGG	6: 72,593,019 (GRCm39)	probably benign	Het
Tob1	CACA	CACAACA	11: 94,105,277 (GRCm39)	probably benign	Het
Trappc9	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	GCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,673,139 (GRCm39)	probably benign	Het
Triobp	CAGGACT	CAGGACTGCCTGTGCCCAACGGAACAACCCAAGGACT	15: 78,851,239 (GRCm39)	probably benign	Het
Zfhx3	AACAGCAGC	AACAGCAGCTACAGCAGC	8: 109,682,728 (GRCm39)	probably benign	Het
Zfp933	TT	TTTGCCT	4: 147,910,188 (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
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
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'- TTGGCTACCATAGTGACAGTG -3'
(R):5'- TCCCACTACCGAGTCTTTGAG -3'

Sequencing Primer
(F):5'- GCTACCATAGTGACAGTGATACTTAG -3'
(R):5'- ACTACCGAGTCTTTGAGCTAGTC -3'

Posted On

2019-12-04