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|Institutional Source||Beutler Lab|
|Gene Name||ataxia telangiectasia and Rad3 related|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7103 (G1)|
|Chromosomal Location||95857597-95951781 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 95865372 bp|
|Amino Acid Change||Glycine to Serine at position 236 (G236S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000149953 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034980] [ENSMUST00000215311]|
AA Change: G236S
|Predicted Effect||probably damaging
AA Change: G236S
PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|Meta Mutation Damage Score||0.1473|
|Coding Region Coverage||
|Validation Efficiency||98% (61/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs the PI3/PI4-kinase family, and is most closely related to ATM, a protein kinase encoded by the gene mutated in ataxia telangiectasia. This protein and ATM share similarity with Schizosaccharomyces pombe rad3, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This kinase has been shown to phosphorylate checkpoint kinase CHK1, checkpoint proteins RAD17, and RAD9, as well as tumor suppressor protein BRCA1. Mutations of this gene are associated with Seckel syndrome. An alternatively spliced transcript variant of this gene has been reported, however, its full length nature is not known. Transcript variants utilizing alternative polyA sites exist. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality. Mice heterozygous for a knock-out allele exhibit premature death and increased tumor incidence. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atr||
(F):5'- CTCCACAAAAGAAATGCAGTGG -3'
(R):5'- AGCAGCTTTGACAATGGCTC -3'
(F):5'- AATGGCCAGTGGTTGTTAGTC -3'
(R):5'- AGCTTTGACAATGGCTCTTCATAC -3'