Incidental Mutation 'R0701:Kmt2e'
ID 63005
Institutional Source Beutler Lab
Gene Symbol Kmt2e
Ensembl Gene ENSMUSG00000029004
Gene Name lysine (K)-specific methyltransferase 2E
Synonyms 9530077A04Rik, 1810033J14Rik, D230038D11Rik, Mll5
MMRRC Submission 038884-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0701 (G1)
Quality Score 84
Status Not validated
Chromosome 5
Chromosomal Location 23639439-23709233 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23678581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 220 (V220A)
Ref Sequence ENSEMBL: ENSMUSP00000110781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094962] [ENSMUST00000115128] [ENSMUST00000196889]
AlphaFold Q3UG20
Predicted Effect probably benign
Transcript: ENSMUST00000094962
AA Change: V220A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000092569
Gene: ENSMUSG00000029004
AA Change: V220A

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
AA Change: V220A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000110781
Gene: ENSMUSG00000029004
AA Change: V220A

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: ENSMUST00000196889
AA Change: V220A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142568
Gene: ENSMUSG00000029004
AA Change: V220A

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 0.0862 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 91.3%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada A G 2: 163,571,995 (GRCm39) V261A probably benign Het
Arhgef10 T A 8: 15,012,636 (GRCm39) V320E probably damaging Het
Arhgef11 G T 3: 87,640,766 (GRCm39) A1308S probably benign Het
Bach1 G A 16: 87,516,877 (GRCm39) E473K probably damaging Het
Bsph1 G T 7: 13,206,181 (GRCm39) C72F probably damaging Het
C2cd2l A G 9: 44,227,499 (GRCm39) L186P probably damaging Het
C9 A C 15: 6,496,902 (GRCm39) T200P probably damaging Het
Cald1 AAGAGAGAGAGAGAG AAGAGAGAGAGAG 6: 34,723,108 (GRCm39) probably null Het
Chd1 C A 17: 15,945,693 (GRCm39) N72K probably benign Het
Copg1 T A 6: 87,871,089 (GRCm39) Y268* probably null Het
Csad A G 15: 102,087,571 (GRCm39) S331P probably benign Het
Ddx31 G T 2: 28,748,789 (GRCm39) R239L probably null Het
Fat1 G T 8: 45,479,590 (GRCm39) A2879S probably benign Het
Fig4 T A 10: 41,116,508 (GRCm39) R628* probably null Het
Fmnl3 T C 15: 99,219,188 (GRCm39) N778S probably damaging Het
Gm10912 T C 2: 103,896,875 (GRCm39) S5P probably benign Het
Haus3 G A 5: 34,323,359 (GRCm39) T417M probably benign Het
Herc1 T G 9: 66,395,232 (GRCm39) V4189G probably damaging Het
Hoxb3 C A 11: 96,237,074 (GRCm39) S384* probably null Het
Ifnar2 A G 16: 91,201,117 (GRCm39) T453A possibly damaging Het
Ift140 A G 17: 25,309,907 (GRCm39) T1105A probably benign Het
Lrriq1 A T 10: 103,069,905 (GRCm39) V37E probably benign Het
Lrrn4 G A 2: 132,712,080 (GRCm39) T581M probably benign Het
Mcur1 T C 13: 43,699,216 (GRCm39) Y267C probably damaging Het
Mdn1 T A 4: 32,699,263 (GRCm39) D1313E probably benign Het
Med13 T A 11: 86,197,864 (GRCm39) T736S probably benign Het
Mlh3 A T 12: 85,314,677 (GRCm39) I503K probably benign Het
Nckap5 A G 1: 125,953,094 (GRCm39) F1089L probably benign Het
Or1e35 A T 11: 73,797,655 (GRCm39) I221N probably damaging Het
Or4c10 A G 2: 89,760,545 (GRCm39) T131A probably benign Het
Or4k48 C T 2: 111,476,136 (GRCm39) V69I probably benign Het
Pdgfd A T 9: 6,359,706 (GRCm39) D259V probably damaging Het
Pramel22 C T 4: 143,383,010 (GRCm39) E70K possibly damaging Het
R3hdm1 A G 1: 128,109,476 (GRCm39) Y309C probably damaging Het
Rab27b A T 18: 70,118,270 (GRCm39) C216S probably damaging Het
Robo2 A G 16: 73,843,762 (GRCm39) I151T probably damaging Het
Sh2d4a A G 8: 68,783,747 (GRCm39) D227G probably damaging Het
Sis G T 3: 72,848,378 (GRCm39) T632K probably damaging Het
Smcr8 T C 11: 60,668,941 (GRCm39) Y30H probably damaging Het
Stap1 T C 5: 86,242,667 (GRCm39) probably null Het
Syt16 G A 12: 74,281,886 (GRCm39) V337I probably benign Het
Taf1c A T 8: 120,326,722 (GRCm39) I438N probably damaging Het
Ttn A G 2: 76,728,412 (GRCm39) probably benign Het
Unc45b T A 11: 82,831,031 (GRCm39) L797Q possibly damaging Het
Usp6nl A G 2: 6,419,829 (GRCm39) E144G possibly damaging Het
Wiz A T 17: 32,575,415 (GRCm39) I907N probably damaging Het
Zap70 G A 1: 36,820,258 (GRCm39) R513Q 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
R0498:Kmt2e UTSW 5 23,683,970 (GRCm39) nonsense probably null
R0699: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'- AACAAGGAAGTAATCCTTTGTCAGGTGG -3'
(R):5'- GCAGTGAGCAATGTCTCCTGTAGTCC -3'

Sequencing Primer
(F):5'- gcactgtctgctctccc -3'
(R):5'- GTAGTCCATGCCTGTCTTTAAATG -3'
Posted On 2013-07-30