Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02934:Kmt2e'

364244

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kmt2e

Ensembl Gene

ENSMUSG00000029004

Gene Name

lysine (K)-specific methyltransferase 2E

Synonyms

D230038D11Rik, 9530077A04Rik, 1810033J14Rik, Mll5

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02934

Quality Score

Status

Chromosome

Chromosomal Location

23434441-23504235 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23497884 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1021 (S1021P)

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: S1021P

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000092569
Gene: ENSMUSG00000029004
AA Change: S1021P

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: S1021P

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110781
Gene: ENSMUSG00000029004
AA Change: S1021P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197591

Coding Region Coverage

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	T	3: 122,162,359 (GRCm38)	R716*	probably null	Het
Abca8a	A	T	11: 110,040,588 (GRCm38)	N1246K	probably damaging	Het
Acadl	A	G	1: 66,836,975 (GRCm38)	Y396H	probably benign	Het
Apol7c	A	T	15: 77,526,118 (GRCm38)	S209R	possibly damaging	Het
Atp1a1	A	T	3: 101,576,992 (GRCm38)	C990*	probably null	Het
Cachd1	C	T	4: 100,968,098 (GRCm38)	S583L	probably damaging	Het
Cbfa2t3	T	C	8: 122,647,758 (GRCm38)	T48A	probably benign	Het
Ccdc138	G	T	10: 58,573,580 (GRCm38)		probably benign	Het
Cenpe	A	G	3: 135,264,351 (GRCm38)	E2231G	probably damaging	Het
Cog3	T	C	14: 75,741,689 (GRCm38)	I206V	probably damaging	Het
Cr2	A	G	1: 195,154,325 (GRCm38)		probably benign	Het
Ctdspl2	T	C	2: 121,979,009 (GRCm38)	V147A	probably damaging	Het
Cyp4f13	A	G	17: 32,929,871 (GRCm38)	V300A	probably damaging	Het
Dkk3	A	T	7: 112,150,747 (GRCm38)	M72K	probably damaging	Het
Dock3	A	T	9: 107,023,745 (GRCm38)	F340L	probably benign	Het
Fut1	A	G	7: 45,618,703 (GRCm38)	H27R	possibly damaging	Het
Igkv4-80	A	G	6: 69,016,856 (GRCm38)	V17A	probably benign	Het
Igkv9-123	G	A	6: 67,954,396 (GRCm38)	P62L	possibly damaging	Het
Krt13	A	C	11: 100,119,084 (GRCm38)	L320R	probably damaging	Het
Ldhal6b	T	C	17: 5,417,544 (GRCm38)	T372A	probably benign	Het
Manba	T	C	3: 135,544,749 (GRCm38)	V379A	probably benign	Het
Map1b	C	T	13: 99,435,131 (GRCm38)	V361I	probably benign	Het
Map4k1	A	G	7: 28,994,106 (GRCm38)	S399G	probably benign	Het
Mff	G	A	1: 82,747,094 (GRCm38)	R229H	probably damaging	Het
Naga	T	C	15: 82,330,200 (GRCm38)	N370S	possibly damaging	Het
Ncor2	A	T	5: 125,025,557 (GRCm38)	M2045K	probably benign	Het
Nipal1	T	C	5: 72,647,907 (GRCm38)	L7P	probably damaging	Het
Olfr9	T	A	10: 128,990,089 (GRCm38)	M59K	probably damaging	Het
Pcmt1	A	T	10: 7,640,727 (GRCm38)	M187K	probably benign	Het
Perp	A	T	10: 18,855,772 (GRCm38)	T160S	probably damaging	Het
Rapgef6	G	A	11: 54,625,864 (GRCm38)	D169N	probably damaging	Het
Sel1l	G	A	12: 91,809,936 (GRCm38)	Q711*	probably null	Het
Sept5	T	C	16: 18,629,831 (GRCm38)	Y7C	probably damaging	Het
Spdya	A	T	17: 71,556,400 (GRCm38)	N48I	probably benign	Het
Stard6	T	A	18: 70,496,104 (GRCm38)		probably benign	Het
Sytl2	T	C	7: 90,375,992 (GRCm38)	V396A	probably benign	Het
Tcaf3	T	G	6: 42,593,898 (GRCm38)	M307L	probably benign	Het
Tdrd6	T	C	17: 43,627,887 (GRCm38)	N757D	probably benign	Het
Tgm1	T	A	14: 55,709,989 (GRCm38)	D305V	probably damaging	Het
Themis2	T	A	4: 132,789,551 (GRCm38)	M213L	probably damaging	Het
Tmem184c	A	G	8: 77,597,820 (GRCm38)	V347A	probably damaging	Het
Tmem214	A	G	5: 30,871,544 (GRCm38)	E159G	probably benign	Het
Trim58	C	T	11: 58,640,466 (GRCm38)		probably benign	Het
Tshz1	A	T	18: 84,013,090 (GRCm38)	S1064R	probably damaging	Het
Ubr2	C	T	17: 46,957,340 (GRCm38)	E983K	possibly damaging	Het
Vmn1r23	A	T	6: 57,925,929 (GRCm38)	I288N	probably benign	Het
Vmn2r97	T	C	17: 18,929,685 (GRCm38)	V445A	probably benign	Het
Whrn	G	A	4: 63,416,105 (GRCm38)	T813M	probably damaging	Het
Xirp2	C	T	2: 67,515,676 (GRCm38)	H2754Y	probably benign	Het

Other mutations in Kmt2e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00783:Kmt2e	APN	5	23,492,358 (GRCm38)	missense	probably damaging	0.99
IGL01330:Kmt2e	APN	5	23,497,948 (GRCm38)	missense	possibly damaging	0.95
IGL01457:Kmt2e	APN	5	23,502,019 (GRCm38)	missense	possibly damaging	0.62
IGL01691:Kmt2e	APN	5	23,497,091 (GRCm38)	missense	probably benign
IGL02274:Kmt2e	APN	5	23,500,760 (GRCm38)	missense	probably benign	0.00
IGL02964:Kmt2e	APN	5	23,467,100 (GRCm38)	splice site	probably benign
IGL03011:Kmt2e	APN	5	23,497,542 (GRCm38)	missense	probably damaging	1.00
IGL03291:Kmt2e	APN	5	23,499,291 (GRCm38)	missense	probably damaging	1.00
R0035:Kmt2e	UTSW	5	23,485,621 (GRCm38)	splice site	probably benign
R0446:Kmt2e	UTSW	5	23,497,534 (GRCm38)	splice site	probably null
R0498:Kmt2e	UTSW	5	23,478,972 (GRCm38)	nonsense	probably null
R0699:Kmt2e	UTSW	5	23,473,583 (GRCm38)	missense	probably benign	0.01
R0701:Kmt2e	UTSW	5	23,473,583 (GRCm38)	missense	probably benign	0.01
R0761:Kmt2e	UTSW	5	23,503,034 (GRCm38)	nonsense	probably null
R1110:Kmt2e	UTSW	5	23,502,655 (GRCm38)	missense	probably damaging	1.00
R1295:Kmt2e	UTSW	5	23,502,404 (GRCm38)	missense	probably damaging	0.99
R1432:Kmt2e	UTSW	5	23,450,321 (GRCm38)	missense	probably benign	0.39
R1495:Kmt2e	UTSW	5	23,499,327 (GRCm38)	missense	possibly damaging	0.83
R1505:Kmt2e	UTSW	5	23,500,535 (GRCm38)	missense	probably null	0.01
R1623:Kmt2e	UTSW	5	23,482,502 (GRCm38)	missense	probably damaging	1.00
R1675:Kmt2e	UTSW	5	23,482,453 (GRCm38)	nonsense	probably null
R1691:Kmt2e	UTSW	5	23,464,849 (GRCm38)	missense	probably damaging	1.00
R1778:Kmt2e	UTSW	5	23,492,364 (GRCm38)	missense	probably damaging	1.00
R1820:Kmt2e	UTSW	5	23,473,547 (GRCm38)	missense	probably damaging	1.00
R1846:Kmt2e	UTSW	5	23,499,486 (GRCm38)	intron	probably benign
R1912:Kmt2e	UTSW	5	23,492,395 (GRCm38)	missense	probably benign	0.07
R2070:Kmt2e	UTSW	5	23,501,995 (GRCm38)	missense	probably benign
R2195:Kmt2e	UTSW	5	23,502,196 (GRCm38)	splice site	probably null
R2571:Kmt2e	UTSW	5	23,501,887 (GRCm38)	missense	probably benign	0.08
R3901:Kmt2e	UTSW	5	23,501,642 (GRCm38)	missense	probably benign	0.02
R3902:Kmt2e	UTSW	5	23,501,642 (GRCm38)	missense	probably benign	0.02
R3905:Kmt2e	UTSW	5	23,501,626 (GRCm38)	missense	probably benign	0.01
R3906:Kmt2e	UTSW	5	23,501,626 (GRCm38)	missense	probably benign	0.01
R3909:Kmt2e	UTSW	5	23,501,626 (GRCm38)	missense	probably benign	0.01
R3956:Kmt2e	UTSW	5	23,496,025 (GRCm38)	missense	probably benign	0.00
R4242:Kmt2e	UTSW	5	23,502,822 (GRCm38)	unclassified	probably benign
R4299:Kmt2e	UTSW	5	23,464,914 (GRCm38)	missense	probably damaging	1.00
R4448:Kmt2e	UTSW	5	23,464,790 (GRCm38)	missense	possibly damaging	0.80
R4528:Kmt2e	UTSW	5	23,473,558 (GRCm38)	missense	possibly damaging	0.69
R4574:Kmt2e	UTSW	5	23,492,407 (GRCm38)	missense	possibly damaging	0.60
R4719:Kmt2e	UTSW	5	23,492,315 (GRCm38)	missense	probably damaging	1.00
R4754:Kmt2e	UTSW	5	23,482,441 (GRCm38)	missense	possibly damaging	0.88
R4787:Kmt2e	UTSW	5	23,463,083 (GRCm38)	missense	possibly damaging	0.65
R4812:Kmt2e	UTSW	5	23,502,587 (GRCm38)	missense	possibly damaging	0.86
R4853:Kmt2e	UTSW	5	23,502,341 (GRCm38)	missense	probably damaging	1.00
R5138:Kmt2e	UTSW	5	23,502,695 (GRCm38)	missense	probably damaging	0.99
R5306:Kmt2e	UTSW	5	23,499,333 (GRCm38)	missense	probably damaging	0.98
R5659:Kmt2e	UTSW	5	23,497,807 (GRCm38)	missense	probably damaging	0.99
R5907:Kmt2e	UTSW	5	23,464,706 (GRCm38)	missense	probably damaging	1.00
R5920:Kmt2e	UTSW	5	23,499,442 (GRCm38)	missense	possibly damaging	0.50
R6280:Kmt2e	UTSW	5	23,499,516 (GRCm38)	missense	possibly damaging	0.48
R6353:Kmt2e	UTSW	5	23,493,245 (GRCm38)	missense	probably damaging	1.00
R6375:Kmt2e	UTSW	5	23,499,519 (GRCm38)	missense	probably benign
R6553:Kmt2e	UTSW	5	23,463,026 (GRCm38)	missense	probably damaging	0.99
R6572:Kmt2e	UTSW	5	23,497,581 (GRCm38)	missense	possibly damaging	0.66
R6678:Kmt2e	UTSW	5	23,499,295 (GRCm38)	missense	possibly damaging	0.54
R6791:Kmt2e	UTSW	5	23,499,476 (GRCm38)	intron	probably benign
R6792:Kmt2e	UTSW	5	23,499,476 (GRCm38)	intron	probably benign
R6794:Kmt2e	UTSW	5	23,499,476 (GRCm38)	intron	probably benign
R6797:Kmt2e	UTSW	5	23,482,507 (GRCm38)	missense	possibly damaging	0.82
R6947:Kmt2e	UTSW	5	23,497,545 (GRCm38)	missense	probably damaging	1.00
R7023:Kmt2e	UTSW	5	23,500,487 (GRCm38)	missense	possibly damaging	0.46
R7036:Kmt2e	UTSW	5	23,478,743 (GRCm38)	missense	probably null	1.00
R7173:Kmt2e	UTSW	5	23,464,857 (GRCm38)	missense	probably damaging	1.00
R7202:Kmt2e	UTSW	5	23,492,294 (GRCm38)	unclassified	probably benign
R7563:Kmt2e	UTSW	5	23,500,273 (GRCm38)	missense	probably damaging	1.00
R7571:Kmt2e	UTSW	5	23,478,587 (GRCm38)	missense	probably damaging	1.00
R7604:Kmt2e	UTSW	5	23,501,765 (GRCm38)	missense	not run
R7722:Kmt2e	UTSW	5	23,497,018 (GRCm38)	missense	probably benign	0.00
R7758:Kmt2e	UTSW	5	23,496,070 (GRCm38)	missense	possibly damaging	0.92
R7794:Kmt2e	UTSW	5	23,464,716 (GRCm38)	missense	probably damaging	1.00
R8137:Kmt2e	UTSW	5	23,501,954 (GRCm38)	missense	probably damaging	1.00
R8341:Kmt2e	UTSW	5	23,499,453 (GRCm38)	missense	probably damaging	0.98
R8383:Kmt2e	UTSW	5	23,485,541 (GRCm38)	missense	probably benign	0.08
R8400:Kmt2e	UTSW	5	23,497,092 (GRCm38)	missense	probably benign	0.17
R8546:Kmt2e	UTSW	5	23,481,244 (GRCm38)	missense	probably damaging	1.00
R8750:Kmt2e	UTSW	5	23,493,217 (GRCm38)	missense	probably benign
R8786:Kmt2e	UTSW	5	23,464,866 (GRCm38)	missense	probably damaging	1.00
R9211:Kmt2e	UTSW	5	23,464,772 (GRCm38)	missense	possibly damaging	0.83
R9660:Kmt2e	UTSW	5	23,478,619 (GRCm38)	missense	probably damaging	1.00
R9786:Kmt2e	UTSW	5	23,497,984 (GRCm38)	missense	probably benign	0.16
RF026:Kmt2e	UTSW	5	23,478,509 (GRCm38)	critical splice acceptor site	probably benign
RF028:Kmt2e	UTSW	5	23,478,509 (GRCm38)	critical splice acceptor site	probably benign
RF040:Kmt2e	UTSW	5	23,478,509 (GRCm38)	critical splice acceptor site	probably benign
RF042:Kmt2e	UTSW	5	23,478,509 (GRCm38)	critical splice acceptor site	probably benign
Z1177:Kmt2e	UTSW	5	23,481,208 (GRCm38)	critical splice acceptor site	probably null

Posted On

2015-12-18