|Institutional Source||Beutler Lab|
|Gene Name||lysine (K)-specific methyltransferase 2C|
|Synonyms||Mll3, E330008K23Rik, HALR|
|Is this an essential gene?||Probably essential (E-score: 0.881)|
|Stock #||R1497 (G1)|
|Chromosomal Location||25271798-25498783 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 25314515 bp|
|Amino Acid Change||Histidine to Leucine at position 2199 (H2199L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043874 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045291] [ENSMUST00000173073]|
|Predicted Effect||possibly damaging
AA Change: H2199L
PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: H2199L
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.106|
|Coding Region Coverage||
|Validation Efficiency||99% (79/80)|
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'- TGGACGGTCAACAAGATCGTGAAC -3'
(R):5'- GCCTGGAACCATATCAAGGTCAGC -3'
(F):5'- AATGTGTCTATACGGCCAGG -3'
(R):5'- TATCAAGGTCAGCATCTCAGG -3'