|Institutional Source||Beutler Lab|
|Gene Name||PMS1 homolog 1, mismatch repair system component|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6440 (G1)|
|Chromosomal Location||53189187-53297018 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 53195021 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 779 (K779E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027267 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027267] [ENSMUST00000135246]|
|Predicted Effect||probably damaging
AA Change: K779E
PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: K779E
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|Validation Efficiency||100% (40/40)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit a modest increase in DNA mismatch repair errors, primarily single base pair substitutions. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pms1||
(F):5'- AAGGAAGCCATCTCTGCAGAG -3'
(R):5'- CAGAGTGCTTTCTCACAGGG -3'
(F):5'- ATCTCTGCAGAGCTGGCAAG -3'
(R):5'- TGCTTTCTCACAGGGCTCGG -3'