Incidental Mutation 'R7036:Kmt2e'
ID 546672
Institutional Source Beutler Lab
Gene Symbol Kmt2e
Ensembl Gene ENSMUSG00000029004
Gene Name lysine (K)-specific methyltransferase 2E
Synonyms 9530077A04Rik, 1810033J14Rik, D230038D11Rik, Mll5
MMRRC Submission 045012-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7036 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 23639439-23709233 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23683741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 333 (E333G)
Ref Sequence ENSEMBL: ENSMUSP00000110781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094962] [ENSMUST00000115128] [ENSMUST00000196889]
AlphaFold Q3UG20
Predicted Effect probably null
Transcript: ENSMUST00000094962
AA Change: E333G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092569
Gene: ENSMUSG00000029004
AA Change: E333G

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000115128
AA Change: E333G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110781
Gene: ENSMUSG00000029004
AA Change: E333G

DomainStartEndE-ValueType
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: ENSMUST00000196889
AA Change: E333G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142568
Gene: ENSMUSG00000029004
AA Change: E333G

DomainStartEndE-ValueType
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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,445,118 (GRCm39) probably null Het
Ahnak2 A G 12: 112,745,216 (GRCm39) probably benign Het
Akt2 T C 7: 27,336,437 (GRCm39) probably null Het
Aldh1a7 A T 19: 20,685,542 (GRCm39) L336Q possibly damaging Het
Ank2 T C 3: 126,740,041 (GRCm39) probably benign Het
Ank3 C T 10: 69,835,209 (GRCm39) T680M probably damaging Het
Apeh T C 9: 107,971,470 (GRCm39) E59G possibly damaging Het
Arl8a G C 1: 135,082,206 (GRCm39) E145Q probably benign Het
Armc8 C T 9: 99,366,018 (GRCm39) probably null Het
Armh3 A G 19: 45,953,688 (GRCm39) I195T probably damaging Het
Arsj T C 3: 126,158,649 (GRCm39) L76P probably damaging Het
Atp2b1 C T 10: 98,823,172 (GRCm39) T244I probably damaging Het
Bcl6 A T 16: 23,793,611 (GRCm39) L112Q probably damaging Het
Bfsp1 T A 2: 143,668,843 (GRCm39) T579S possibly damaging Het
Btaf1 C A 19: 36,981,869 (GRCm39) T1633K probably benign Het
Cacng8 A G 7: 3,463,819 (GRCm39) S324G probably benign Het
Cd2ap A T 17: 43,109,490 (GRCm39) L623Q probably damaging Het
Cerkl T C 2: 79,171,722 (GRCm39) I379V probably benign Het
Cndp2 T A 18: 84,688,070 (GRCm39) H307L possibly damaging Het
Derl1 A G 15: 57,742,443 (GRCm39) probably null Het
Dixdc1 T A 9: 50,593,864 (GRCm39) R254S probably benign Het
Dop1b T A 16: 93,574,378 (GRCm39) D30E probably benign Het
Duox2 T G 2: 122,110,934 (GRCm39) H1513P probably damaging Het
Dyrk1a G A 16: 94,487,427 (GRCm39) V546I probably benign Het
E130308A19Rik A C 4: 59,719,991 (GRCm39) K508Q probably damaging Het
Emc8 A T 8: 121,385,790 (GRCm39) V108E probably benign Het
Epb41l1 A G 2: 156,371,322 (GRCm39) T720A probably benign Het
Fcgr4 T A 1: 170,847,657 (GRCm39) M85K probably benign Het
Fem1b T A 9: 62,704,310 (GRCm39) I317F probably damaging Het
Focad A G 4: 88,042,874 (GRCm39) E36G probably benign Het
Fryl C T 5: 73,212,951 (GRCm39) E2275K probably benign Het
Galnt11 T C 5: 25,463,811 (GRCm39) I361T probably damaging Het
Garin3 G A 11: 46,298,235 (GRCm39) S513N Het
Gatad2a A T 8: 70,370,644 (GRCm39) N114K probably damaging Het
Gcnt2 CTAATG C 13: 41,041,032 (GRCm39) probably null Het
Gramd1a A G 7: 30,832,181 (GRCm39) probably null Het
Gsn T A 2: 35,182,611 (GRCm39) W187R probably damaging Het
Hoxc12 G A 15: 102,846,795 (GRCm39) G229D probably damaging Het
Hycc2 T A 1: 58,574,696 (GRCm39) M282L probably benign Het
Ints14 T C 9: 64,871,827 (GRCm39) V55A probably benign Het
Itga9 T C 9: 118,527,433 (GRCm39) L528P probably benign Het
Klf1 C T 8: 85,629,379 (GRCm39) S68F possibly damaging Het
Krt39 A C 11: 99,412,062 (GRCm39) V8G probably benign Het
Krt71 A G 15: 101,646,772 (GRCm39) I312T probably benign Het
Lrp1b T C 2: 41,002,354 (GRCm39) D2001G possibly damaging Het
Lrrc37 T A 11: 103,506,638 (GRCm39) probably benign Het
Lrrc71 T C 3: 87,655,693 (GRCm39) T27A probably benign Het
Lrrcc1 T C 3: 14,628,069 (GRCm39) V958A possibly damaging Het
Med15 A T 16: 17,516,019 (GRCm39) M1K probably null Het
Mrgpra3 G T 7: 47,239,838 (GRCm39) N29K possibly damaging Het
Myl1 T C 1: 66,969,395 (GRCm39) N79S probably damaging Het
Naip2 A T 13: 100,291,529 (GRCm39) D1136E probably benign Het
Nat10 T C 2: 103,584,453 (GRCm39) N108S probably benign Het
Ncald A T 15: 37,369,122 (GRCm39) S178T probably benign Het
Ndufs2 T C 1: 171,065,877 (GRCm39) D256G probably benign Het
Nek5 T C 8: 22,597,739 (GRCm39) N280S probably benign Het
Or5ak25 A G 2: 85,268,774 (GRCm39) S243P probably damaging Het
Or5d39 T A 2: 87,979,469 (GRCm39) D298V probably damaging Het
Parp1 G T 1: 180,425,817 (GRCm39) K849N possibly damaging Het
Pcdhb4 T A 18: 37,441,835 (GRCm39) C382S possibly damaging Het
Plce1 A G 19: 38,727,801 (GRCm39) N1520S probably damaging Het
Plcg2 G A 8: 118,323,045 (GRCm39) R700H probably benign Het
Popdc2 A T 16: 38,183,173 (GRCm39) Y52F probably damaging Het
Prrx1 T A 1: 163,075,907 (GRCm39) M220L probably benign Het
Pspc1 A C 14: 56,996,085 (GRCm39) probably null Het
Ptchd1 T A X: 154,357,708 (GRCm39) Y499F probably damaging Het
Ptpn20 A G 14: 33,336,392 (GRCm39) *44W probably null Het
Qars1 T A 9: 108,391,976 (GRCm39) V83E probably damaging Het
Rrh T C 3: 129,609,342 (GRCm39) E55G possibly damaging Het
Sash1 C A 10: 8,605,847 (GRCm39) E848* probably null Het
Sds A T 5: 120,618,912 (GRCm39) K125M possibly damaging Het
Serpinf2 A T 11: 75,329,244 (GRCm39) probably benign Het
Sh2b2 G A 5: 136,247,739 (GRCm39) T604I probably benign Het
Smug1 A G 15: 103,064,369 (GRCm39) L184P probably damaging Het
Spatc1 A G 15: 76,168,080 (GRCm39) T180A probably benign Het
Ssr1 A T 13: 38,178,001 (GRCm39) L20Q probably null Het
Supt4a A G 11: 87,634,084 (GRCm39) E100G probably damaging Het
Tbx1 G T 16: 18,405,551 (GRCm39) P38T unknown Het
Tcl1 T C 12: 105,183,860 (GRCm39) probably benign Het
Teddm2 T C 1: 153,726,320 (GRCm39) I132V probably benign Het
Tmem131 C T 1: 36,832,054 (GRCm39) G1861E possibly damaging Het
Tpr A T 1: 150,299,358 (GRCm39) H1186L probably benign Het
Trim34b A T 7: 103,978,743 (GRCm39) probably benign Het
Trpm2 T C 10: 77,748,426 (GRCm39) M1415V probably benign Het
Ttll12 A G 15: 83,471,086 (GRCm39) F264S probably benign Het
Vmn2r59 T C 7: 41,695,644 (GRCm39) E256G probably benign Het
Vmn2r93 A T 17: 18,546,672 (GRCm39) H848L probably benign Het
Vps35l T C 7: 118,372,315 (GRCm39) S290P probably damaging Het
Wdr70 T C 15: 7,913,855 (GRCm39) D598G possibly damaging Het
Ybey T C 10: 76,304,197 (GRCm39) S2G possibly damaging Het
Zfp346 A T 13: 55,280,200 (GRCm39) Q308L probably benign Het
Zfp872 C T 9: 22,111,856 (GRCm39) P445L probably benign Het
Other mutations in Kmt2e
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AGCACCAGAAATTGATCCTTCATCTG -3'
(R):5'- TGATAAGTGCATCAGGAGGC -3'

Sequencing Primer
(F):5'- TTTGGGAAACAAAAATCAAAGCATG -3'
(R):5'- GCATCAGGAGGCAAGTCTTTG -3'
Posted On 2019-05-13