Incidental Mutation 'IGL00863:Crygd'
ID278038
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 #IGL00863
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011I03Rik A T 18: 57,594,086 E136V probably damaging Het
Bsn A G 9: 108,115,322 I1077T probably damaging Het
Car8 A G 4: 8,183,251 probably null Het
Ccny A T 18: 9,345,444 D143E probably benign Het
Cdh19 A G 1: 110,949,144 V155A probably damaging Het
Cript T A 17: 87,027,723 I14N probably damaging Het
Eef1b2 G A 1: 63,178,506 G91R probably damaging Het
Fam49a A T 12: 12,359,234 I72F probably benign Het
Fbln5 A G 12: 101,809,916 V60A probably damaging Het
Fbn1 T A 2: 125,403,219 E249D possibly damaging Het
G6pc G T 11: 101,370,723 R83L probably damaging Het
Grik2 A G 10: 49,355,928 V502A possibly damaging Het
Heatr1 T C 13: 12,435,128 V2001A probably benign Het
Il4i1 T A 7: 44,838,046 Y148* probably null Het
Jmjd4 T C 11: 59,450,743 S113P probably benign Het
Mpp5 A G 12: 78,809,821 D146G probably damaging Het
Nceh1 C T 3: 27,241,313 P241L probably damaging Het
Pcdh10 T A 3: 45,380,302 D350E probably damaging Het
Pdgfrl A G 8: 40,985,534 E169G probably damaging Het
Ppm1l T A 3: 69,317,950 D128E probably damaging Het
Rasa1 A G 13: 85,288,429 V160A probably benign Het
Serf2 T C 2: 121,457,703 probably null Het
Slitrk1 T A 14: 108,911,837 N481Y probably damaging Het
Tas2r139 T G 6: 42,141,121 S62R probably damaging Het
Tdpoz4 A T 3: 93,797,073 T226S probably benign Het
Tvp23b C A 11: 62,883,638 A36E probably damaging Het
Upp2 G A 2: 58,790,064 E301K probably benign 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
IGL00861: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