|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 #||R5689 (G1)|
|Chromosomal Location||64528979-64661000 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 64564537 bp|
|Amino Acid Change||Arginine to Histidine at position 412 (R412H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025482 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025482]|
|Predicted Effect||probably damaging
AA Change: R412H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R412H
|Meta Mutation Damage Score||0.5348|
|Coding Region Coverage||
|Validation Efficiency||95% (63/66)|
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'- AGTCCCGTTAATGCAGCACT -3'
(R):5'- ACTCACACACGCGCATGT -3'
(F):5'- CCGTTAATGCAGCACTTTTTGAAGG -3'
(R):5'- CACGCGCATGTGCACAC -3'