|Institutional Source||Beutler Lab|
|Gene Name||ataxia telangiectasia mutated|
|Is this an essential gene?||Probably essential (E-score: 0.816)|
|Stock #||R1295 (G1)|
|Chromosomal Location||53439149-53536740 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 53456530 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 2431 (V2431E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000113388 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000118282] [ENSMUST00000232179]|
|Predicted Effect||probably damaging
AA Change: V2431E
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: V2431E
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: V2434E
PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|Meta Mutation Damage Score||0.274|
|Coding Region Coverage||
|Validation Efficiency||98% (81/83)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]
PHENOTYPE: Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas. Mice homozygous for a kinase dead allele exhibit early embryonic lethality associated with genetic instability. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atm||
(F):5'- TGCAATTAATAGGTCTTCCACACACCC -3'
(R):5'- GCTGTTACCTGATAAGGTTCCATGCC -3'
(F):5'- CAGGGTGGACTCTAAGTTAATCCTC -3'
(R):5'- ACATAGATTTGAGTGGGCTACC -3'