Incidental Mutation 'R0035:Kmt2e'
ID 19406
Institutional Source Beutler Lab
Gene Symbol Kmt2e
Ensembl Gene ENSMUSG00000029004
Gene Name lysine (K)-specific methyltransferase 2E
Synonyms D230038D11Rik, 9530077A04Rik, 1810033J14Rik, Mll5
MMRRC Submission 038329-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0035 (G1)
Quality Score 183
Status Validated
Chromosome 5
Chromosomal Location 23434441-23504235 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 23485621 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094962] [ENSMUST00000115128] [ENSMUST00000146375] [ENSMUST00000196260] [ENSMUST00000196889]
AlphaFold Q3UG20
Predicted Effect probably benign
Transcript: ENSMUST00000094962
SMART Domains Protein: ENSMUSP00000092569
Gene: ENSMUSG00000029004

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 benign
Transcript: ENSMUST00000115128
SMART Domains Protein: ENSMUSP00000110781
Gene: ENSMUSG00000029004

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 benign
Transcript: ENSMUST00000146375
SMART Domains Protein: ENSMUSP00000142547
Gene: ENSMUSG00000029004

DomainStartEndE-ValueType
low complexity region 104 117 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157545
Predicted Effect probably benign
Transcript: ENSMUST00000196260
SMART Domains Protein: ENSMUSP00000143791
Gene: ENSMUSG00000029004

DomainStartEndE-ValueType
low complexity region 49 62 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196889
SMART Domains Protein: ENSMUSP00000142568
Gene: ENSMUSG00000029004

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200330
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 87.1%
Validation Efficiency 99% (70/71)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110040N11Rik T C 7: 81,788,549 (GRCm38) T20A probably benign Het
4932438A13Rik T A 3: 36,987,598 (GRCm38) Y2708* probably null Het
9130011E15Rik A T 19: 45,891,240 (GRCm38) M558K probably damaging Het
Aadacl4 A G 4: 144,617,941 (GRCm38) T96A probably damaging Het
Abcb6 A G 1: 75,175,007 (GRCm38) V473A possibly damaging Het
Abo C A 2: 26,843,373 (GRCm38) K273N possibly damaging Het
Acvr1c A G 2: 58,315,779 (GRCm38) probably benign Het
Adcy8 A T 15: 64,699,368 (GRCm38) V1142D probably benign Het
Akna T A 4: 63,382,445 (GRCm38) H591L probably benign Het
Aox2 T C 1: 58,354,422 (GRCm38) V1247A probably benign Het
Ap4b1 T C 3: 103,820,664 (GRCm38) probably benign Het
Atm A G 9: 53,513,180 (GRCm38) V607A probably benign Het
Cass4 C T 2: 172,416,492 (GRCm38) P137S probably damaging Het
Cfap53 A G 18: 74,300,207 (GRCm38) E121G probably damaging Het
Chmp6 T C 11: 119,916,682 (GRCm38) V31A probably damaging Het
Clec4a3 T A 6: 122,967,549 (GRCm38) Y185N probably damaging Het
Clic5 A G 17: 44,275,313 (GRCm38) T230A probably damaging Het
Clspn G T 4: 126,565,003 (GRCm38) probably null Het
Cntn1 T A 15: 92,232,088 (GRCm38) probably benign Het
Col4a3 G A 1: 82,672,753 (GRCm38) G577R unknown Het
Defa21 T A 8: 21,025,768 (GRCm38) probably null Het
Deup1 T C 9: 15,599,821 (GRCm38) R221G possibly damaging Het
Dnah8 A T 17: 30,683,621 (GRCm38) probably benign Het
Dnase1l2 A G 17: 24,441,075 (GRCm38) V273A probably damaging Het
Gm5134 T A 10: 75,993,864 (GRCm38) F328Y probably benign Het
Golph3 A T 15: 12,339,690 (GRCm38) E96D probably damaging Het
Hspd1 A G 1: 55,083,783 (GRCm38) V151A probably benign Het
Htr1f A C 16: 64,926,497 (GRCm38) I144S probably damaging Het
Il1f8 A T 2: 24,159,878 (GRCm38) H167L probably benign Het
Il23r A G 6: 67,473,788 (GRCm38) probably benign Het
Il25 A G 14: 54,933,096 (GRCm38) E42G probably damaging Het
Klrb1-ps1 C T 6: 129,129,343 (GRCm38) A149V possibly damaging Het
Ktn1 A G 14: 47,730,379 (GRCm38) N1167D probably benign Het
Lama4 T A 10: 39,072,738 (GRCm38) D832E probably benign Het
Map1b A G 13: 99,435,338 (GRCm38) S292P probably damaging Het
Map6 C T 7: 99,317,608 (GRCm38) T345I probably damaging Het
Mark2 A T 19: 7,284,652 (GRCm38) probably benign Het
Me3 C A 7: 89,851,759 (GRCm38) H559Q probably benign Het
Myo1b A G 1: 51,778,382 (GRCm38) F574L probably damaging Het
Nos2 T C 11: 78,945,727 (GRCm38) S431P probably damaging Het
Nr1h5 T A 3: 102,949,573 (GRCm38) K208* probably null Het
Nup214 T C 2: 31,990,367 (GRCm38) probably null Het
Obp2b T C 2: 25,738,633 (GRCm38) L133P probably damaging Het
Olfr173 A T 16: 58,797,122 (GRCm38) C241* probably null Het
Olfr305 T C 7: 86,364,187 (GRCm38) D50G possibly damaging Het
Osbp2 C T 11: 3,717,997 (GRCm38) probably benign Het
Ptafr C A 4: 132,579,553 (GRCm38) L85I probably benign Het
Ptprk T A 10: 28,263,508 (GRCm38) Y76* probably null Het
Rad50 A G 11: 53,655,027 (GRCm38) probably benign Het
Rasef G T 4: 73,762,854 (GRCm38) probably benign Het
Slitrk6 A T 14: 110,749,932 (GRCm38) L781H probably damaging Het
Tbc1d1 T A 5: 64,256,737 (GRCm38) I18N probably damaging Het
Tbc1d17 T C 7: 44,841,408 (GRCm38) N587D probably benign Het
Trank1 A T 9: 111,366,776 (GRCm38) K1289N probably benign Het
Tspyl3 A G 2: 153,224,320 (GRCm38) S333P probably damaging Het
Ush2a G A 1: 188,356,888 (GRCm38) V347I probably benign Het
Usp17le G T 7: 104,769,062 (GRCm38) S291* probably null Het
Usp24 T A 4: 106,368,027 (GRCm38) S619T probably benign Het
Vmn2r10 T C 5: 108,997,601 (GRCm38) probably benign Het
Vmn2r78 A G 7: 86,920,205 (GRCm38) E102G probably benign Het
Vwa3b G A 1: 37,165,689 (GRCm38) V85I possibly damaging Het
Wwp1 A C 4: 19,631,116 (GRCm38) I639R probably damaging Het
Xpo5 A G 17: 46,240,175 (GRCm38) T1001A probably benign Het
Zc3h12c A T 9: 52,143,747 (GRCm38) M235K probably benign Het
Zfp619 G A 7: 39,537,282 (GRCm38) G912D probably damaging Het
Other mutations in Kmt2e
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL02934:Kmt2e APN 5 23,497,884 (GRCm38) missense probably damaging 0.97
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
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
Predicted Primers PCR Primer
(F):5'- GCCTCAAGGAAAATCCAGAGTGCC -3'
(R):5'- TGGAGCACCAACAGAGAACTTGCC -3'

Sequencing Primer
(F):5'- TGTTCTCAAGCGAAGCTCG -3'
(R):5'- ACTTGCCAAGGGTATGGTAGC -3'
Posted On 2013-04-11