Mutagenetix > Incidental Mutations

Incidental Mutation 'R5138:Kmt2e'

396271

Institutional Source

Beutler Lab

Gene Symbol

Kmt2e

Ensembl Gene

ENSMUSG00000029004

Gene Name

lysine (K)-specific methyltransferase 2E

Synonyms

D230038D11Rik, 9530077A04Rik, 1810033J14Rik, Mll5

MMRRC Submission

042724-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5138 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23434441-23504235 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23502695 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1752 (H1752R)

Ref Sequence

ENSEMBL: ENSMUSP00000110781 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088392] [ENSMUST00000094962] [ENSMUST00000115128] [ENSMUST00000126586] [ENSMUST00000196260] [ENSMUST00000196929]

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 damaging
Transcript: ENSMUST00000094962
AA Change: H1752R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092569
Gene: ENSMUSG00000029004
AA Change: H1752R

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: H1752R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110781
Gene: ENSMUSG00000029004
AA Change: H1752R

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: 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

probably benign
Transcript: ENSMUST00000196929

SMART Domains

Protein: ENSMUSP00000143216
Gene: ENSMUSG00000062604

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	131	2.6e-8	PFAM
Pfam:Pkinase	2	130	2.3e-18	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

97% (76/78)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	A	9: 46,306,821		probably null	Het
Actr10	G	A	12: 70,961,879	G362E	probably damaging	Het
Aldh1a3	T	C	7: 66,407,852	T278A	probably damaging	Het
Arpp21	T	A	9: 112,179,084	K116M	probably damaging	Het
Arrdc3	T	C	13: 80,891,065	Y72H	probably damaging	Het
Atr	T	C	9: 95,937,596	V2212A	probably benign	Het
Bcdin3d	A	G	15: 99,471,051	F89S	possibly damaging	Het
Cacna1d	C	A	14: 30,490,972	A44S	probably benign	Het
Cbx3	A	G	6: 51,475,289	E28G	probably damaging	Het
Cdh23	A	T	10: 60,312,282	F2722L	probably damaging	Het
Clec11a	A	G	7: 44,304,638	V297A	probably benign	Het
Clk2	C	A	3: 89,175,499		probably benign	Het
Clybl	T	A	14: 122,371,304	C103S	possibly damaging	Het
Col12a1	T	A	9: 79,643,966	N2123Y	probably damaging	Het
Corin	G	A	5: 72,339,059	P517L	probably damaging	Het
Ddhd2	A	T	8: 25,727,699	I717N	probably damaging	Het
Derl2	C	A	11: 71,014,564	G31*	probably null	Het
Dgcr8	A	G	16: 18,278,077	V523A	probably damaging	Het
Dnah8	T	C	17: 30,765,597	S3090P	probably damaging	Het
Dsp	A	T	13: 38,195,845	T1590S	possibly damaging	Het
Dsp	C	A	13: 38,183,298	H641N	probably benign	Het
Duox2	A	T	2: 122,297,531	L57Q	probably damaging	Het
Etfdh	A	T	3: 79,623,573	V47D	probably benign	Het
Exoc1	T	C	5: 76,568,075	Y823H	probably damaging	Het
Fam81a	C	T	9: 70,099,175	R185K	probably benign	Het
Fsip2	A	G	2: 82,981,424	I2696V	probably benign	Het
Glis1	GCACACA	GCACA	4: 107,623,105		probably null	Het
Gm15448	A	T	7: 3,824,557	Y200*	probably null	Het
Gtf3c1	A	T	7: 125,647,492	N1548K	probably benign	Het
Hist1h3b	G	A	13: 23,752,630	R84H	probably damaging	Het
Hkdc1	A	T	10: 62,398,691	I575N	probably damaging	Het
Ifi208	A	G	1: 173,690,673	I449V	probably null	Het
Ino80	T	C	2: 119,383,421	T1223A	probably damaging	Het
Kctd9	T	C	14: 67,728,748		probably null	Het
Khdrbs1	A	G	4: 129,741,854	Y103H	probably benign	Het
Lrp5	T	A	19: 3,628,319	Q512L	probably benign	Het
Map2k5	T	C	9: 63,263,158	T293A	probably damaging	Het
Myo7a	C	A	7: 98,083,599	R657L	probably damaging	Het
Myrfl	A	G	10: 116,796,058		probably null	Het
Nfatc2	G	A	2: 168,536,309	H258Y	probably damaging	Het
Nup205	T	A	6: 35,225,866	L1336Q	probably damaging	Het
Olfr1218	T	C	2: 89,054,947	I160V	probably benign	Het
Olfr1436	T	C	19: 12,298,776	M119V	possibly damaging	Het
Olfr419	A	G	1: 174,250,829	S33P	probably damaging	Het
Otog	T	A	7: 46,250,006	S244T	possibly damaging	Het
Pcdh17	T	G	14: 84,447,209	I372S	probably damaging	Het
Plagl1	A	G	10: 13,128,175		probably benign	Het
Pnpla7	T	C	2: 25,041,103	F910S	possibly damaging	Het
Prdm13	G	A	4: 21,679,507	P328S	unknown	Het
Prdm5	C	T	6: 65,856,102	Q152*	probably null	Het
Psat1	A	G	19: 15,914,948	F216S	possibly damaging	Het
Psg21	A	T	7: 18,656,528	M1K	probably null	Het
Rab11fip3	A	T	17: 25,991,026	S994T	probably benign	Het
Rax	A	G	18: 65,938,318		probably benign	Het
Rgs22	A	T	15: 36,099,788	S260R	probably benign	Het
Ryr2	A	T	13: 11,660,289	H3317Q	probably damaging	Het
Sc5d	A	G	9: 42,255,515	Y243H	probably damaging	Het
Serpinf1	T	C	11: 75,415,028	E178G	probably damaging	Het
Slc15a3	A	T	19: 10,856,005	Y462F	probably damaging	Het
Slc9b1	G	A	3: 135,357,773		probably benign	Het
Slit2	C	T	5: 48,281,967	P1111S	probably damaging	Het
Slit3	T	C	11: 35,588,985	Y330H	probably damaging	Het
Snw1	T	C	12: 87,460,435	K204E	probably benign	Het
Steap1	A	G	5: 5,736,486	I317T	probably damaging	Het
Sval2	A	G	6: 41,861,945	N20S	probably damaging	Het
Tfrc	C	A	16: 32,615,209	Y85*	probably null	Het
Tmem87a	T	C	2: 120,371,545	T412A	possibly damaging	Het
Utp20	T	C	10: 88,747,377	K2705E	probably damaging	Het
Vmn1r230	A	T	17: 20,846,968	K140*	probably null	Het
Vmn2r62	A	T	7: 42,764,816	H734Q	possibly damaging	Het
Zbtb8os	T	A	4: 129,346,926		probably benign	Het
Zfp608	A	T	18: 54,891,799	H1466Q	probably damaging	Het
Zfp957	C	T	14: 79,212,922	C479Y	probably damaging	Het

Other mutations in Kmt2e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00783:Kmt2e	APN	5	23492358	missense	probably damaging	0.99
IGL01330:Kmt2e	APN	5	23497948	missense	possibly damaging	0.95
IGL01457:Kmt2e	APN	5	23502019	missense	possibly damaging	0.62
IGL01691:Kmt2e	APN	5	23497091	missense	probably benign
IGL02274:Kmt2e	APN	5	23500760	missense	probably benign	0.00
IGL02934:Kmt2e	APN	5	23497884	missense	probably damaging	0.97
IGL02964:Kmt2e	APN	5	23467100	splice site	probably benign
IGL03011:Kmt2e	APN	5	23497542	missense	probably damaging	1.00
IGL03291:Kmt2e	APN	5	23499291	missense	probably damaging	1.00
R0035:Kmt2e	UTSW	5	23485621	splice site	probably benign
R0446:Kmt2e	UTSW	5	23497534	splice site	probably null
R0498:Kmt2e	UTSW	5	23478972	nonsense	probably null
R0699:Kmt2e	UTSW	5	23473583	missense	probably benign	0.01
R0701:Kmt2e	UTSW	5	23473583	missense	probably benign	0.01
R0761:Kmt2e	UTSW	5	23503034	nonsense	probably null
R1110:Kmt2e	UTSW	5	23502655	missense	probably damaging	1.00
R1295:Kmt2e	UTSW	5	23502404	missense	probably damaging	0.99
R1432:Kmt2e	UTSW	5	23450321	missense	probably benign	0.39
R1495:Kmt2e	UTSW	5	23499327	missense	possibly damaging	0.83
R1505:Kmt2e	UTSW	5	23500535	missense	probably null	0.01
R1623:Kmt2e	UTSW	5	23482502	missense	probably damaging	1.00
R1675:Kmt2e	UTSW	5	23482453	nonsense	probably null
R1691:Kmt2e	UTSW	5	23464849	missense	probably damaging	1.00
R1778:Kmt2e	UTSW	5	23492364	missense	probably damaging	1.00
R1820:Kmt2e	UTSW	5	23473547	missense	probably damaging	1.00
R1846:Kmt2e	UTSW	5	23499486	intron	probably benign
R1912:Kmt2e	UTSW	5	23492395	missense	probably benign	0.07
R2070:Kmt2e	UTSW	5	23501995	missense	probably benign
R2195:Kmt2e	UTSW	5	23502196	unclassified	probably null
R2571:Kmt2e	UTSW	5	23501887	missense	probably benign	0.08
R3901:Kmt2e	UTSW	5	23501642	missense	probably benign	0.02
R3902:Kmt2e	UTSW	5	23501642	missense	probably benign	0.02
R3905:Kmt2e	UTSW	5	23501626	missense	probably benign	0.01
R3906:Kmt2e	UTSW	5	23501626	missense	probably benign	0.01
R3909:Kmt2e	UTSW	5	23501626	missense	probably benign	0.01
R3956:Kmt2e	UTSW	5	23496025	missense	probably benign	0.00
R4242:Kmt2e	UTSW	5	23502822	unclassified	probably benign
R4299:Kmt2e	UTSW	5	23464914	missense	probably damaging	1.00
R4448:Kmt2e	UTSW	5	23464790	missense	possibly damaging	0.80
R4528:Kmt2e	UTSW	5	23473558	missense	possibly damaging	0.69
R4574:Kmt2e	UTSW	5	23492407	missense	possibly damaging	0.60
R4719:Kmt2e	UTSW	5	23492315	missense	probably damaging	1.00
R4754:Kmt2e	UTSW	5	23482441	missense	possibly damaging	0.88
R4787:Kmt2e	UTSW	5	23463083	missense	possibly damaging	0.65
R4812:Kmt2e	UTSW	5	23502587	missense	possibly damaging	0.86
R4853:Kmt2e	UTSW	5	23502341	missense	probably damaging	1.00
R5306:Kmt2e	UTSW	5	23499333	missense	probably damaging	0.98
R5659:Kmt2e	UTSW	5	23497807	missense	probably damaging	0.99
R5907:Kmt2e	UTSW	5	23464706	missense	probably damaging	1.00
R5920:Kmt2e	UTSW	5	23499442	missense	possibly damaging	0.50
R6280:Kmt2e	UTSW	5	23499516	missense	possibly damaging	0.48
R6353:Kmt2e	UTSW	5	23493245	missense	probably damaging	1.00
R6375:Kmt2e	UTSW	5	23499519	missense	probably benign
R6553:Kmt2e	UTSW	5	23463026	missense	probably damaging	0.99
R6572:Kmt2e	UTSW	5	23497581	missense	possibly damaging	0.66
R6678:Kmt2e	UTSW	5	23499295	missense	possibly damaging	0.54
R6791:Kmt2e	UTSW	5	23499476	intron	probably benign
R6792:Kmt2e	UTSW	5	23499476	intron	probably benign
R6794:Kmt2e	UTSW	5	23499476	intron	probably benign
R6797:Kmt2e	UTSW	5	23482507	missense	possibly damaging	0.82
R6947:Kmt2e	UTSW	5	23497545	missense	probably damaging	1.00
R7023:Kmt2e	UTSW	5	23500487	missense	possibly damaging	0.46
R7036:Kmt2e	UTSW	5	23478743	missense	probably null	1.00
R7173:Kmt2e	UTSW	5	23464857	missense	probably damaging	1.00
R7202:Kmt2e	UTSW	5	23492294	unclassified	probably benign
R7563:Kmt2e	UTSW	5	23500273	missense	probably damaging	1.00
R7571:Kmt2e	UTSW	5	23478587	missense	probably damaging	1.00
R7604:Kmt2e	UTSW	5	23501765	missense	not run
R7722:Kmt2e	UTSW	5	23497018	missense	probably benign	0.00
R7758:Kmt2e	UTSW	5	23496070	missense	possibly damaging	0.92
R7794:Kmt2e	UTSW	5	23464716	missense	probably damaging	1.00
RF019:Kmt2e	UTSW	5	23499494	intron	probably benign
RF026:Kmt2e	UTSW	5	23478509	critical splice acceptor site	probably benign
RF028:Kmt2e	UTSW	5	23478509	critical splice acceptor site	probably benign
RF040:Kmt2e	UTSW	5	23478509	critical splice acceptor site	probably benign
RF042:Kmt2e	UTSW	5	23478509	critical splice acceptor site	probably benign
Z1177:Kmt2e	UTSW	5	23481208	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCAGGACACCATTTACCAC -3'
(R):5'- CAGAACCCTGAAGCAGTAGG -3'

Sequencing Primer
(F):5'- GGTCCTGCCCCACATCAC -3'
(R):5'- CCCTGAAGCAGTAGGGGTTG -3'

Posted On

2016-06-21