|Institutional Source||Beutler Lab|
|Gene Name||crystallin, mu|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4328 (G1)|
|Chromosomal Location||120186380-120202111 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 120195339 bp|
|Amino Acid Change||Glycine to Glutamic Acid at position 219 (G219E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033198 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033198]|
|Predicted Effect||probably damaging
AA Change: G219E
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: G219E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.9585|
|Coding Region Coverage||
|Validation Efficiency||98% (56/57)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. This gene encodes a taxon-specific crystallin protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. The encoded protein does not perform a structural role in lens tissue, and instead it binds thyroid hormone for possible regulatory or developmental roles. Mutations in this gene have been associated with autosomal dominant non-syndromic deafness. [provided by RefSeq, Sep 2014]
PHENOTYPE: At the euthyroid state, homozygotes display a normal growth curve, heart rate and hearing ability but have significantly reduced serum concentrations of triiodothyronine (T3) and thyroxine (T4). [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Crym||
(F):5'- GACACCCATCCTTTCGTAGC -3'
(R):5'- TGAGAATGTGGAACCGCAC -3'
(F):5'- CAAGTTCTCTGTAAGTAGCCCAGG -3'
(R):5'- CCGCACCAGGGAAAATGCTG -3'