|Institutional Source||Beutler Lab|
|Gene Name||ATPase, class I, type 8B, member 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1292 (G1)|
|Chromosomal Location||64528979-64661000 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 64571021 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 342 (Y342C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025482 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025482]|
|Predicted Effect||probably damaging
AA Change: Y342C
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: Y342C
|Meta Mutation Damage Score||0.2956|
|Coding Region Coverage||
|Validation Efficiency||97% (31/32)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice display abnormal bile salt homeostasis, normal bile secretion, and an impaired ability to handle increased bile salt loading resulting in liver damage and weight loss on a bile salt supplemented diet. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atp8b1||
(F):5'- GCTTGGGAGTCCCTTTACATCCATC -3'
(R):5'- ACTGACATGCCAGAGCCAACTG -3'
(F):5'- TTACATCCATCCCGTTAGGC -3'
(R):5'- TAGCCAGACCAGAAGTGTTTGTC -3'