|Institutional Source||Beutler Lab|
|Is this an essential gene?||Probably non essential (E-score: 0.099)|
|Stock #||R7480 (G1)|
|Chromosomal Location||74702301-74709535 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 74707053 bp|
|Amino Acid Change||Proline to Threonine at position 128 (P128T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000051842 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000050234]|
|Predicted Effect||probably benign
AA Change: P128T
PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: P128T
|Coding Region Coverage||
|Validation Efficiency||100% (64/64)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved protein that is similar to DNA-binding proteins, such as major centromere autoantigen B (CENPB). Inactivation of the related gene in mice resulted in epileptic seizures. Childhood Absence Epilepsy (CAE) has been mapped to the same chromosomal location (8q24.3) as this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Heterozygous mutants show whole body jerks, clonic seizures and epileptic brain activity. Homozygous mutants show elevated seizure susceptibility, impaired postnatal growth, reduced life span, male sterility and impaired female fertility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Jrk||
(F):5'- CTCATCAGCGCTGTACACCT -3'
(R):5'- TAAGGACAGGGGCAGCCT -3'
(F):5'- TGTACACCTGCTCTGGAGAC -3'
(R):5'- AGATTGACATCTGCACCCGG -3'