Incidental Mutation 'R0498:Kmt2e'
ID 40595
Institutional Source Beutler Lab
Gene Symbol Kmt2e
Ensembl Gene ENSMUSG00000029004
Gene Name lysine (K)-specific methyltransferase 2E
Synonyms 9530077A04Rik, 1810033J14Rik, D230038D11Rik, Mll5
MMRRC Submission 038694-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0498 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 23639439-23709233 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 23683970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 373 (Y373*)
Ref Sequence ENSEMBL: ENSMUSP00000142568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094962] [ENSMUST00000115128] [ENSMUST00000196889]
AlphaFold Q3UG20
Predicted Effect probably null
Transcript: ENSMUST00000094962
AA Change: Y373*
SMART Domains Protein: ENSMUSP00000092569
Gene: ENSMUSG00000029004
AA Change: Y373*

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: Y373*
SMART Domains Protein: ENSMUSP00000110781
Gene: ENSMUSG00000029004
AA Change: Y373*

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: ENSMUST00000196889
AA Change: Y373*
SMART Domains Protein: ENSMUSP00000142568
Gene: ENSMUSG00000029004
AA Change: Y373*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 100% (68/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,718 (GRCm39) D220V probably benign Het
Adgrf2 A G 17: 43,025,206 (GRCm39) probably benign Het
Aldh18a1 A G 19: 40,562,716 (GRCm39) V219A probably benign Het
Anapc10 A G 8: 80,501,610 (GRCm39) D126G probably benign Het
Ap1m2 T C 9: 21,207,129 (GRCm39) *426W probably null Het
Arhgap21 A G 2: 20,867,928 (GRCm39) I865T probably damaging Het
Armc8 A G 9: 99,379,345 (GRCm39) V527A probably damaging Het
Asic5 A T 3: 81,913,778 (GRCm39) probably benign Het
Baz2b A C 2: 59,732,340 (GRCm39) probably benign Het
Bpifa5 T C 2: 154,009,169 (GRCm39) V237A probably damaging Het
Brip1 T A 11: 86,088,745 (GRCm39) K52I possibly damaging Het
Cacna1g T C 11: 94,350,685 (GRCm39) I387V probably damaging Het
Cbr4 A G 8: 61,948,107 (GRCm39) I135V probably benign Het
Ccdc66 C T 14: 27,222,197 (GRCm39) probably null Het
Cubn G A 2: 13,449,078 (GRCm39) T999M probably damaging Het
Dnai3 G T 3: 145,787,119 (GRCm39) D305E possibly damaging Het
Dpp8 C T 9: 64,953,077 (GRCm39) probably benign Het
Dsg1b T C 18: 20,542,390 (GRCm39) S966P possibly damaging Het
Erp27 T C 6: 136,896,862 (GRCm39) probably benign Het
Fat4 A T 3: 39,034,786 (GRCm39) I2813L probably benign Het
Fhod1 G A 8: 106,056,488 (GRCm39) R1101C probably damaging Het
Hoxc9 T C 15: 102,892,359 (GRCm39) S191P probably damaging Het
Izumo4 T C 10: 80,540,030 (GRCm39) probably null Het
Kalrn C T 16: 33,875,261 (GRCm39) D104N possibly damaging Het
Kank4 A T 4: 98,667,873 (GRCm39) D191E probably benign Het
Kbtbd11 A G 8: 15,077,605 (GRCm39) E68G probably benign Het
Kdr C T 5: 76,119,798 (GRCm39) V654I probably benign Het
Klra1 A T 6: 130,349,782 (GRCm39) probably null Het
Lepr A T 4: 101,602,889 (GRCm39) M226L probably benign Het
Lrp1b T A 2: 41,348,417 (GRCm39) I800F probably benign Het
Lta4h T C 10: 93,307,833 (GRCm39) probably benign Het
Map3k7 T C 4: 31,974,814 (GRCm39) probably benign Het
Map4k4 G A 1: 40,029,338 (GRCm39) R371Q probably benign Het
Mgat4f A G 1: 134,318,610 (GRCm39) I461V possibly damaging Het
Mme A G 3: 63,253,487 (GRCm39) I444V probably damaging Het
Mms19 C T 19: 41,938,212 (GRCm39) R582Q possibly damaging Het
Mtss1 A G 15: 58,817,286 (GRCm39) S502P probably damaging Het
Myo3a G T 2: 22,467,441 (GRCm39) A232S possibly damaging Het
Nwd2 G T 5: 63,963,686 (GRCm39) W1090L probably damaging Het
Or4k15 A C 14: 50,364,750 (GRCm39) T239P probably damaging Het
Or8b12 G A 9: 37,657,550 (GRCm39) G40E probably damaging Het
Pcm1 G A 8: 41,746,806 (GRCm39) S1335N probably benign Het
Pdzph1 A G 17: 59,280,825 (GRCm39) F486L probably benign Het
Piezo2 T C 18: 63,235,245 (GRCm39) K552R possibly damaging Het
Plekhs1 T A 19: 56,469,536 (GRCm39) probably null Het
Pprc1 C T 19: 46,060,007 (GRCm39) Q1514* probably null Het
Ralgapa1 T C 12: 55,736,576 (GRCm39) T1831A possibly damaging Het
Rnpep G T 1: 135,193,090 (GRCm39) D455E probably damaging Het
Rpgrip1 T A 14: 52,368,771 (GRCm39) probably benign Het
Saxo1 A T 4: 86,397,133 (GRCm39) M135K possibly damaging Het
Serpina12 T C 12: 104,002,048 (GRCm39) T223A probably damaging Het
Serpinb3a A G 1: 106,974,880 (GRCm39) F218L probably damaging Het
Serpinb9f T G 13: 33,509,990 (GRCm39) probably benign Het
Spata33 A G 8: 123,948,662 (GRCm39) D98G probably benign Het
Stard13 T A 5: 150,975,942 (GRCm39) Y742F probably damaging Het
Tecta A G 9: 42,288,910 (GRCm39) Y552H probably damaging Het
Tie1 A T 4: 118,336,358 (GRCm39) probably benign Het
Tmem161a A G 8: 70,633,623 (GRCm39) T254A probably benign Het
Tmem30a G T 9: 79,681,376 (GRCm39) Y264* probably null Het
Tmem87a A T 2: 120,224,946 (GRCm39) I105K probably benign Het
Tnrc6b A T 15: 80,742,920 (GRCm39) D51V probably damaging Het
Trgc3 T A 13: 19,445,262 (GRCm39) M70K probably damaging Het
Trpc4 T C 3: 54,198,632 (GRCm39) F519L probably damaging Het
Ttn T C 2: 76,539,925 (GRCm39) T26027A probably damaging Het
Vmn1r198 A C 13: 22,539,144 (GRCm39) H121P probably damaging Het
Vps33a A G 5: 123,709,024 (GRCm39) F64L probably benign Het
Zfp1008 T C 13: 62,755,201 (GRCm39) N39S probably damaging Het
Zfp994 A T 17: 22,419,882 (GRCm39) C356S probably damaging 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
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
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'- AACAACTCACTCTTCAGACCTCCTGTA -3'
(R):5'- GGCATCTTAGCCCAGTATTAAGACCTCA -3'

Sequencing Primer
(F):5'- GTGTGTATCACTTGTCAAAGCC -3'
(R):5'- acacacacacacacacattc -3'
Posted On 2013-05-23