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|Institutional Source||Beutler Lab|
|Gene Name||aldehyde dehydrogenase 1 family, member B1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4994 (G1)|
|Chromosomal Location||45799022-45804604 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 45803128 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 222 (Y222C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041260 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044384] [ENSMUST00000172750]|
|Predicted Effect||possibly damaging
AA Change: Y222C
PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: Y222C
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.5335|
|Coding Region Coverage||
|Validation Efficiency||100% (79/79)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain introns in the coding sequence. The variation of this locus may affect the development of alcohol-related problems. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased fasting circulating glucose levels and decreased blood acetaldehyde clearance. Mice homozygous for a different knock-out allele display defects in beta cell development and functionality, and develop glucose intolerance, age-dependent hyperglycemia, and insulin resistance. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Aldh1b1||
(F):5'- AGGTGTACCGTTACTTCGC -3'
(R):5'- TCTTGAGGTTAGACTCGCCAG -3'
(F):5'- ACCGTTACTTCGCTGGCTGG -3'
(R):5'- AGCTGCCTTCTGAATCAGG -3'