|Institutional Source||Beutler Lab|
|Gene Name||mutL homolog 3|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1874 (G1)|
|Chromosomal Location||85234520-85270599 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||A to G at 85237513 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000152840 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000019378] [ENSMUST00000166821] [ENSMUST00000220854] [ENSMUST00000223230]|
|Meta Mutation Damage Score||0.9493|
|Coding Region Coverage||
|Validation Efficiency||96% (105/109)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation are sterile. Both oocytes and spermatocytes exhibit meiotic block and die. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mlh3||
(F):5'- TCCTGATTCTATAGGTCTATGCTGG -3'
(R):5'- CCGATCTTCACTGTGCACTG -3'
(F):5'- AAATGCCTACGTCAGCTTGG -3'
(R):5'- CACTGTGCACTGTAACTTTTTGG -3'