Incidental Mutation 'IGL00861:Crygd'
ID278034
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crygd
Ensembl Gene ENSMUSG00000067299
Gene Namecrystallin, gamma D
SynonymsCryg-1, DGcry-1, Aey4
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.269) question?
Stock #IGL00861
Quality Score
Status
Chromosome1
Chromosomal Location65061872-65063452 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 65062091 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 115 (R115Q)
Ref Sequence ENSEMBL: ENSMUSP00000045327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045028] [ENSMUST00000146122]
Predicted Effect probably benign
Transcript: ENSMUST00000045028
AA Change: R115Q

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000045327
Gene: ENSMUSG00000067299
AA Change: R115Q

DomainStartEndE-ValueType
XTALbg 3 82 3.23e-45 SMART
XTALbg 89 170 4.09e-47 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127762
Predicted Effect probably benign
Transcript: ENSMUST00000146122
SMART Domains Protein: ENSMUSP00000122528
Gene: ENSMUSG00000067299

DomainStartEndE-ValueType
XTALbg 1 79 1.77e-42 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Heterozygotes for a spontaneous mutation exhibit a dense nuclear cataract and mild microphthalmia by 2-months of age, followed by posterior capsular rupture into the posterior vitreous by 3-months. In homozygotes, the microphthalmia is more pronounced. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adm2 G A 15: 89,323,285 probably benign Het
Ambra1 T A 2: 91,770,926 D189E possibly damaging Het
Atg16l1 G A 1: 87,774,838 G274S probably damaging Het
Cdh7 C A 1: 110,060,988 probably benign Het
Chat T C 14: 32,449,023 Y173C probably damaging Het
Ctnnd1 T C 2: 84,603,752 D874G probably damaging Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Depdc5 T C 5: 32,967,814 probably null Het
Eef1b2 G A 1: 63,178,506 G91R probably damaging Het
Fut10 G T 8: 31,235,705 V163F probably damaging Het
Glmn A T 5: 107,570,139 M304K possibly damaging Het
Klra6 A G 6: 130,023,700 V47A possibly damaging Het
Lgi2 T C 5: 52,538,121 K491E probably benign Het
Lrrc72 T A 12: 36,221,508 Q138L probably benign Het
Nxph2 T A 2: 23,399,962 F109I probably damaging Het
Oosp3 A G 19: 11,711,640 D84G probably benign Het
Pdzd3 A G 9: 44,249,636 L211P possibly damaging Het
Poc1b C T 10: 99,129,652 R106C probably benign Het
Ptk2 A G 15: 73,262,547 S568P probably damaging Het
Slc4a5 A G 6: 83,299,471 I1093V probably benign Het
Snx2 G A 18: 53,210,797 probably null Het
Washc5 G T 15: 59,337,276 T1033K probably damaging Het
Other mutations in Crygd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00639:Crygd APN 1 65062091 missense probably benign 0.32
IGL00640:Crygd APN 1 65062091 missense probably benign 0.32
IGL00650:Crygd APN 1 65062091 missense probably benign 0.32
IGL00654:Crygd APN 1 65062091 missense probably benign 0.32
IGL00732:Crygd APN 1 65062091 missense probably benign 0.32
IGL00755:Crygd APN 1 65062091 missense probably benign 0.32
IGL00772:Crygd APN 1 65062091 missense probably benign 0.32
IGL00788:Crygd APN 1 65062091 missense probably benign 0.32
IGL00852:Crygd APN 1 65062091 missense probably benign 0.32
IGL00863:Crygd APN 1 65062091 missense probably benign 0.32
IGL00864:Crygd APN 1 65062091 missense probably benign 0.32
IGL00885:Crygd APN 1 65062091 missense probably benign 0.32
IGL00886:Crygd APN 1 65062091 missense probably benign 0.32
IGL01939:Crygd APN 1 65062026 missense probably benign
L23 UTSW 1 65063084 missense probably damaging 1.00
R1400:Crygd UTSW 1 65063208 missense probably damaging 1.00
R1528:Crygd UTSW 1 65063057 critical splice donor site probably null
R1862:Crygd UTSW 1 65061974 missense probably benign 0.03
R2077:Crygd UTSW 1 65063246 missense probably damaging 1.00
Posted On2015-04-16