|Institutional Source||Beutler Lab|
|Gene Name||mutS homolog 6|
|Synonyms||GTBP, Gtmbp, Msh6|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R3162 (G1)|
|Chromosomal Location||87975050-87990883 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 87985481 bp|
|Amino Acid Change||Tyrosine to Histidine at position 555 (Y555H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000005503 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000005503]|
|Predicted Effect||probably damaging
AA Change: Y555H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y555H
|Meta Mutation Damage Score||0.9247|
|Coding Region Coverage||
|Validation Efficiency||98% (62/63)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature death and are predisposed to tumor formation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Msh6||
(F):5'- TCCAGAAATGATGGAGGCGC -3'
(R):5'- GAGACCTTCCTGAAGACAAGATG -3'
(F):5'- CGATGTCGGAAAATGGCACAC -3'
(R):5'- TGACAGTGAACCCTTTAGGAC -3'