|Institutional Source||Beutler Lab|
|Gene Name||RAD50 interactor 1|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R9245 (G1)|
|Chromosomal Location||23787711-23820369 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 23805413 bp (GRCm38)|
|Amino Acid Change||Threonine to Alanine at position 207 (T207A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030852 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030852] [ENSMUST00000115113]|
AA Change: T207A
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: T207A
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein first identified for its ability to interact with the RAD50 double strand break repair protein, with the resulting interaction implicated in the regulation of cell cycle progression and telomere length. The encoded protein may also play a role in trafficking of cellular cargo from the endosome to the trans-Golgi network. Mutations in this gene may be associated with breast cancer in human patients. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a mutant allele exhibit early embryonic lethality. Mice heterozygous for a mutant allele exhibit premature death with a life span of 24 months and increased multiple tumor incidence. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rint1||
(F):5'- GTGATGGTTTAGTCAGCACAGTG -3'
(R):5'- AAGACTTCCTCAAAATCACTGTAACA -3'
(F):5'- GACTCCAGGTGAATTACTGAGCTC -3'
(R):5'- TGTAACAGAAAAGAAACAATGCTTCC -3'