|Institutional Source||Beutler Lab|
|Gene Name||mutL homolog 1|
|Synonyms||colon cancer, nonpolyposis type 2, 1110035C23Rik|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7607 (G1)|
|Chromosomal Location||111228228-111271791 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 111229890 bp (GRCm38)|
|Amino Acid Change||Serine to Proline at position 689 (S689P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035079 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035078] [ENSMUST00000035079] [ENSMUST00000098340] [ENSMUST00000135218]|
AA Change: S689P
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: S689P
|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 was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced pairing in meiotic prophase I and produce no mature germ cells. Mutants also display increased microsatellite instability and a predisposition for developing intestinal and other tumors. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mlh1||
(F):5'- TGGAAGTCTATGTTCTAGTCCAGC -3'
(R):5'- GAAAAGCCACGTCCCTTCTG -3'
(F):5'- CGCTATAATCTCAGCACTTAGGAGG -3'
(R):5'- TGAACTGTCAAGTCTGTGACC -3'