|Institutional Source||Beutler Lab|
|Gene Name||crystallin, gamma S|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4630 (G1)|
|Chromosomal Location||22805203-22811577 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 22805518 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 113 (E113G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043588 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040592]|
|Predicted Effect||possibly damaging
AA Change: E113G
PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: E113G
|Meta Mutation Damage Score||0.216|
|Coding Region Coverage||
|Validation Efficiency||97% (74/76)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. 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. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. This gene encodes a protein initially considered to be a beta-crystallin but the encoded protein is monomeric and has greater sequence similarity to other gamma-crystallins. This gene encodes the most significant gamma-crystallin in adult eye lens tissue. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene can cause cataracts and/or disrupted lens fiber cell morphology and organization. Aging mice homozygous for a knock-out allele do not develop cataracts but show focusing defects associated with inefficient clearance of cellular organelles and altered actin distribution. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Crygs||
(F):5'- GAACTCTATGGTCCCACTCCAG -3'
(R):5'- TTAAGGATGAGAGGCTGTGC -3'
(F):5'- TCACTCCACAATGCGGCG -3'
(R):5'- TGTGCACCAAGCTGTCC -3'