Incidental Mutation 'R1820:Kmt2e'
ID 204775
Institutional Source Beutler Lab
Gene Symbol Kmt2e
Ensembl Gene ENSMUSG00000029004
Gene Name lysine (K)-specific methyltransferase 2E
Synonyms 9530077A04Rik, 1810033J14Rik, D230038D11Rik, Mll5
MMRRC Submission 039848-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1820 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 23639439-23709233 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23678545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 208 (H208R)
Ref Sequence ENSEMBL: ENSMUSP00000110781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094962] [ENSMUST00000115128] [ENSMUST00000196889]
AlphaFold Q3UG20
Predicted Effect probably damaging
Transcript: ENSMUST00000094962
AA Change: H208R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092569
Gene: ENSMUSG00000029004
AA Change: H208R

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: ENSMUST00000115128
AA Change: H208R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110781
Gene: ENSMUSG00000029004
AA Change: H208R

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 possibly damaging
Transcript: ENSMUST00000196889
AA Change: H208R

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142568
Gene: ENSMUSG00000029004
AA Change: H208R

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: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.5%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,197,018 (GRCm39) V197A possibly damaging Het
9230109A22Rik T C 15: 25,139,176 (GRCm39) noncoding transcript Het
Acbd3 A G 1: 180,572,703 (GRCm39) N321S probably benign Het
Actr3b T C 5: 26,054,156 (GRCm39) probably null Het
Aldh5a1 T C 13: 25,111,555 (GRCm39) D124G probably benign Het
Arhgap35 G A 7: 16,295,874 (GRCm39) R1064W possibly damaging Het
Arhgef9 T A X: 94,125,142 (GRCm39) I225F probably damaging Het
Arl16 T C 11: 120,357,587 (GRCm39) T43A probably damaging Het
Camsap3 T C 8: 3,653,485 (GRCm39) W409R probably damaging Het
Cfap43 T A 19: 47,885,655 (GRCm39) H320L probably damaging Het
Chac2 T A 11: 30,927,496 (GRCm39) N141I probably damaging Het
Chtf18 C A 17: 25,944,913 (GRCm39) G211C probably damaging Het
Cplane1 A G 15: 8,299,129 (GRCm39) K3106E unknown Het
Cwf19l1 T A 19: 44,115,826 (GRCm39) Y201F probably benign Het
Dcun1d1 A T 3: 35,973,153 (GRCm39) L114* probably null Het
Fdps A T 3: 89,002,350 (GRCm39) H249Q probably benign Het
Fhip1a T A 3: 85,573,136 (GRCm39) T938S probably damaging Het
Gabrg1 T A 5: 70,931,756 (GRCm39) Y329F probably damaging Het
Kctd8 T A 5: 69,497,684 (GRCm39) I321F probably damaging Het
Kdm5b G T 1: 134,525,408 (GRCm39) R299L possibly damaging Het
Kif23 T C 9: 61,833,720 (GRCm39) T494A possibly damaging Het
Lipo5 A T 19: 33,441,995 (GRCm39) probably null Het
Lrrc28 G T 7: 67,290,859 (GRCm39) T54K probably damaging Het
Luc7l2 G A 6: 38,575,754 (GRCm39) probably null Het
Man2a2 A G 7: 80,008,681 (GRCm39) F899L probably benign Het
Myo9b T C 8: 71,786,002 (GRCm39) I633T probably damaging Het
Nynrin A T 14: 56,107,835 (GRCm39) I981F possibly damaging Het
Or5an1c A T 19: 12,218,612 (GRCm39) S138T probably damaging Het
Or8g28 A G 9: 39,169,695 (GRCm39) I91T possibly damaging Het
Pank1 A G 19: 34,855,084 (GRCm39) probably null Het
Phc2 C T 4: 128,637,336 (GRCm39) A47V probably damaging Het
Plekhs1 A G 19: 56,466,954 (GRCm39) R262G possibly damaging Het
Pnp2 C A 14: 51,201,914 (GRCm39) P300Q possibly damaging Het
Polq T A 16: 36,849,780 (GRCm39) S345T possibly damaging Het
Prag1 A G 8: 36,570,958 (GRCm39) T514A probably benign Het
Psmd5 T C 2: 34,760,758 (GRCm39) probably null Het
Rfx6 T G 10: 51,599,221 (GRCm39) probably null Het
Rhbdd2 G A 5: 135,664,903 (GRCm39) C78Y probably damaging Het
Rnf157 G T 11: 116,245,477 (GRCm39) P313T probably damaging Het
Ryr2 A G 13: 11,602,202 (GRCm39) L4560P probably damaging Het
Scai A T 2: 38,996,990 (GRCm39) M268K possibly damaging Het
Scd3 A T 19: 44,230,245 (GRCm39) T343S probably benign Het
Scimp A T 11: 70,682,423 (GRCm39) S98T probably benign Het
Sfrp2 A G 3: 83,680,461 (GRCm39) N207S probably benign Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Sis T C 3: 72,828,475 (GRCm39) Y1200C probably damaging Het
Sp1 T A 15: 102,317,511 (GRCm39) S343R possibly damaging Het
Spata31d1a A T 13: 59,849,069 (GRCm39) C1020S possibly damaging Het
Spink5 A G 18: 44,122,486 (GRCm39) N317S possibly damaging Het
Sptbn2 A G 19: 4,776,624 (GRCm39) D224G probably damaging Het
St8sia3 T C 18: 64,402,703 (GRCm39) I114T probably damaging Het
Zscan5b C A 7: 6,242,162 (GRCm39) H460Q 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
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
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'- AAGTAATCCTTTGTCAGGTGGATTG -3'
(R):5'- TCCCTGTAGTCATGGCTTGC -3'

Sequencing Primer
(F):5'- CGAAGGTCCTGAGTTCATATCACAG -3'
(R):5'- AGTCATGGCTTGCCTGTAACTCAG -3'
Posted On 2014-06-23