Incidental Mutation 'R7202:Kmt2e'
ID 574639
Institutional Source Beutler Lab
Gene Symbol Kmt2e
Ensembl Gene ENSMUSG00000029004
Gene Name lysine (K)-specific methyltransferase 2E
Synonyms 9530077A04Rik, 1810033J14Rik, D230038D11Rik, Mll5
MMRRC Submission 045280-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7202 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 23639439-23709233 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 23697292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094962] [ENSMUST00000115128] [ENSMUST00000126586] [ENSMUST00000146375] [ENSMUST00000196260]
AlphaFold Q3UG20
Predicted Effect silent
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 silent
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: ENSMUST00000126586
Predicted Effect unknown
Transcript: ENSMUST00000146375
AA Change: Q135L
SMART Domains Protein: ENSMUSP00000142547
Gene: ENSMUSG00000029004
AA Change: Q135L

DomainStartEndE-ValueType
low complexity region 104 117 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000196260
SMART Domains Protein: ENSMUSP00000143791
Gene: ENSMUSG00000029004

DomainStartEndE-ValueType
low complexity region 49 62 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (74/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 119,917,236 (GRCm39) I1467T probably damaging Het
Abtb3 A G 10: 85,223,629 (GRCm39) E146G unknown Het
Adgrf3 T A 5: 30,409,378 (GRCm39) K38* probably null Het
Ahdc1 T A 4: 132,789,198 (GRCm39) C146* probably null Het
Ahnak A T 19: 8,995,163 (GRCm39) K5482N probably damaging Het
Arhgap23 C T 11: 97,342,819 (GRCm39) A367V possibly damaging Het
Arvcf T C 16: 18,223,948 (GRCm39) S960P probably damaging Het
Asb14 C A 14: 26,622,394 (GRCm39) P74Q probably benign Het
Atad5 T C 11: 79,980,601 (GRCm39) V2A probably damaging Het
Baz2a A G 10: 127,954,428 (GRCm39) I691M possibly damaging Het
Brca2 A G 5: 150,455,819 (GRCm39) T187A probably benign Het
Calr4 T A 4: 109,101,254 (GRCm39) N152K possibly damaging Het
Ccnb2 C T 9: 70,318,128 (GRCm39) A215T probably damaging Het
Cdh16 C T 8: 105,340,780 (GRCm39) D140N unknown Het
Ces1g T C 8: 94,029,595 (GRCm39) T546A probably benign Het
Cfap74 G T 4: 155,510,654 (GRCm39) probably null Het
Cfap91 T C 16: 38,155,959 (GRCm39) Y88C probably benign Het
Col5a1 G T 2: 27,842,390 (GRCm39) D422Y unknown Het
Cyp2c66 A T 19: 39,130,348 (GRCm39) Y61F probably damaging Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dnah6 A G 6: 73,158,688 (GRCm39) probably null Het
Dop1a T G 9: 86,386,220 (GRCm39) probably null Het
Fam163a A G 1: 155,954,834 (GRCm39) F106L probably damaging Het
Gfy T C 7: 44,827,596 (GRCm39) T167A probably benign Het
Gm6525 A T 3: 84,082,341 (GRCm39) R87S probably benign Het
Gramd1c C A 16: 43,879,584 (GRCm39) A19S possibly damaging Het
Herc2 T C 7: 55,781,034 (GRCm39) V1233A probably damaging Het
Hibch G A 1: 52,892,874 (GRCm39) probably null Het
Ibsp A T 5: 104,450,027 (GRCm39) S9C probably benign Het
Il17ra A G 6: 120,452,572 (GRCm39) I252V probably benign Het
Ino80 A T 2: 119,204,918 (GRCm39) M1536K probably benign Het
Ipo11 A T 13: 107,012,078 (GRCm39) L568Q probably damaging Het
Kcnu1 T G 8: 26,409,609 (GRCm39) probably null Het
Kdm5b T G 1: 134,552,497 (GRCm39) S1158A probably benign Het
Kmt2a T C 9: 44,759,012 (GRCm39) T946A probably benign Het
Krba1 G A 6: 48,389,261 (GRCm39) V594M probably damaging Het
Lamb1 T C 12: 31,374,314 (GRCm39) L1559P probably damaging Het
Lig1 C T 7: 13,025,175 (GRCm39) P227S probably benign Het
Lims2 T A 18: 32,090,017 (GRCm39) D255E probably benign Het
Marchf3 C T 18: 56,909,161 (GRCm39) C208Y probably benign Het
Mei1 A G 15: 81,976,843 (GRCm39) E142G Het
Melk G T 4: 44,351,106 (GRCm39) R549L probably benign Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,214,363 (GRCm39) probably null Het
Myorg T C 4: 41,498,268 (GRCm39) Y454C probably damaging Het
Nae1 T C 8: 105,250,215 (GRCm39) Y226C possibly damaging Het
Nap1l1 T C 10: 111,326,964 (GRCm39) F175S probably damaging Het
Ndn T C 7: 61,998,709 (GRCm39) L185P probably damaging Het
Ndst3 T A 3: 123,465,388 (GRCm39) I195F possibly damaging Het
Ndufaf1 A T 2: 119,488,907 (GRCm39) S206T probably benign Het
Nek10 C A 14: 14,836,171 (GRCm38) H131N probably benign Het
Obsl1 T A 1: 75,466,360 (GRCm39) D1456V possibly damaging Het
Or10a2 A G 7: 106,673,448 (GRCm39) N138D probably benign Het
Or10ak7 C T 4: 118,791,215 (GRCm39) V277I probably benign Het
Or52s6 T A 7: 103,092,292 (GRCm39) T13S probably benign Het
Otog C T 7: 45,937,474 (GRCm39) L1728F probably damaging Het
Pcx A T 19: 4,652,361 (GRCm39) M150L possibly damaging Het
Pole A G 5: 110,444,973 (GRCm39) D443G possibly damaging Het
Prr14 G T 7: 127,075,648 (GRCm39) R552L probably damaging Het
Rasgrf1 T G 9: 89,899,125 (GRCm39) S1156A possibly damaging Het
Rfc4 T A 16: 22,946,359 (GRCm39) probably benign Het
Rfx5 G T 3: 94,866,272 (GRCm39) A524S unknown Het
Ryr3 G A 2: 112,596,664 (GRCm39) P2497S probably damaging Het
Scg3 T C 9: 75,590,992 (GRCm39) T6A probably benign Het
Slc26a9 A T 1: 131,690,526 (GRCm39) D510V possibly damaging Het
Stpg3 A G 2: 25,104,586 (GRCm39) F10L probably damaging Het
Tmc5 T A 7: 118,239,179 (GRCm39) H357Q possibly damaging Het
Tmem40 A T 6: 115,707,420 (GRCm39) L253H probably damaging Het
Tmie A G 9: 110,696,632 (GRCm39) V83A probably damaging Het
Uck2 A T 1: 167,054,084 (GRCm39) I218N probably damaging Het
Vtn A G 11: 78,391,626 (GRCm39) D310G possibly damaging Het
Wdr49 A T 3: 75,240,580 (GRCm39) S430T probably benign Het
Wtip A G 7: 33,832,087 (GRCm39) V133A probably benign Het
Zbtb9 T A 17: 27,193,666 (GRCm39) V357E probably damaging Het
Zfp953 G A 13: 67,491,706 (GRCm39) T82M 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
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
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'- AGATCGGCTCACTGAGATGAAG -3'
(R):5'- TAAGGCACTAAACTTGGACAGTC -3'

Sequencing Primer
(F):5'- CACACATGCTGAGTGGCTGTAATC -3'
(R):5'- CTAAACTTGGACAGTCAGGGTGATTC -3'
Posted On 2019-09-26