|Institutional Source||Beutler Lab|
|Gene Name||MMS22-like, DNA repair protein|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R7757 (G1)|
|Chromosomal Location||24496451-24602950 bp(+) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||T to C at 24598884 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000057715 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000050446] [ENSMUST00000108222]|
|Coding Region Coverage||
|Validation Efficiency||96% (70/73)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms a complex with tonsoku-like, DNA repair protein (TONSL), and this complex recognizes and repairs DNA double-strand breaks at sites of stalled or collapsed replication forks. The encoded protein also can bind with the histone-associated protein NFKBIL2 to help regulate the chromatin state at stalled replication forks. Finally, this gene appears to be overexpressed in most lung and esophageal cancers. Multiple transcript variants exist for this gene, but the full-length nature of only one has been determined to date. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a null mutation die prenatally. Heterozygous mice exhibit defects in pinna responses. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mms22l||
(F):5'- CTAAAGGGAAAACATCTTCCTATGC -3'
(R):5'- TTTCCCACTGAAGACACAAGG -3'
(F):5'- CCTATGCATTATTTCAGCTTTGAGAC -3'
(R):5'- GGCACGTTTACTTTTTCAACAAAGC -3'