|Institutional Source||Beutler Lab|
|Gene Name||ATPase family, AAA domain containing 2B|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6546 (G1)|
|Chromosomal Location||4917353-5047394 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 4990949 bp (GRCm38)|
|Amino Acid Change||Histidine to Leucine at position 206 (H206L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000151695 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045664] [ENSMUST00000218859]|
AA Change: H784L
PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: H784L
AA Change: H206L
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|Meta Mutation Damage Score||0.4065|
|Coding Region Coverage||
|Validation Efficiency||100% (35/35)|
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 AAA ATPase family. This family member includes an N-terminal bromodomain. It has been found to be localized to the nucleus, partly to replication sites, consistent with a chromatin-related function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit reduced body size and fertility in female mice. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atad2b||
(F):5'- TGGGACCTTTGCTGTCTGAC -3'
(R):5'- CAACTTTGACAAGAGAGTCCAAAAG -3'
(F):5'- GGACCTTTGCTGTCTGACTAATAGC -3'
(R):5'- GTCCAAAAGAGGGAAAATACTTTTTC -3'