|Institutional Source||Beutler Lab|
|Gene Name||crystallin, beta A1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0724 (G1)|
|Chromosomal Location||77718615-77725283 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 77719457 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 144 (D144G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000077693 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000078623] [ENSMUST00000181023]|
|Predicted Effect||probably damaging
AA Change: D144G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D144G
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.8596|
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
FUNCTION: Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, encodes two proteins (crystallin, beta A3 and crystallin, beta A1) from a single mRNA. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for a knock-out allele exhibit microphthalmia, congenital nuclear cataracts, persistent hyaloid artery, and lens defects including impaired lysosomal cargo clearance, increased calcium level, and cytoskeletal defects. Homozygotes for an ENU allele show microphthalmia and total cataracts. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cryba1||
(F):5'- GGGCGTGAGATCCCCACTCTG -3'
(R):5'- TGCTGGGACTAAACATGTACACCATAAC -3'
(F):5'- gaggtggctctgtgagtg -3'
(R):5'- AATCCCTGTTAAGCTCAACAATG -3'