|Institutional Source||Beutler Lab|
|Gene Name||lysine (K)-specific methyltransferase 2C|
|Synonyms||Mll3, E330008K23Rik, HALR|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R6364 (G1)|
|Chromosomal Location||25271798-25498783 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 25309636 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Valine at position 3070 (I3070V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043874 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045291]|
|AlphaFold||no structure available at present|
AA Change: I3070V
PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: I3070V
|Coding Region Coverage||
|Validation Efficiency||99% (69/70)|
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 nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display partial embryonic lethality, delayed eyelid opening, postnatal growth retardation, impaired fertility in both sexes, and decreased proliferation of cultured mouse embryonic fibroblasts. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kmt2c||
(F):5'- TTCATTGTAAAGACCCGAGAAGAC -3'
(R):5'- GGGCCAATCATCAGTGAACC -3'
(F):5'- CCGAGAAGACAGAAAATTCTCAG -3'
(R):5'- TCAGTGAACCATAATTTAGGGACAG -3'