Incidental Mutation 'IGL00788:Crygd'
| ID |
277963 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Crygd
|
| Ensembl Gene |
ENSMUSG00000067299 |
| Gene Name |
crystallin, gamma D |
| Synonyms |
Aey4, DGcry-1, Cryg-1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.269)
|
| Stock # |
IGL00788
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
65101031-65102611 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 65101250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
P04342 |
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
A |
G |
5: 4,110,480 (GRCm39) |
E3061G |
probably damaging |
Het |
| Armh3 |
C |
T |
19: 45,920,789 (GRCm39) |
|
probably null |
Het |
| Casd1 |
A |
G |
6: 4,624,400 (GRCm39) |
T398A |
probably benign |
Het |
| Ceacam2 |
C |
T |
7: 25,237,998 (GRCm39) |
|
probably null |
Het |
| Chst9 |
A |
G |
18: 15,586,087 (GRCm39) |
Y159H |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,829,432 (GRCm39) |
|
probably benign |
Het |
| Cops4 |
A |
G |
5: 100,681,421 (GRCm39) |
E152G |
probably damaging |
Het |
| Dpy19l1 |
A |
G |
9: 24,373,864 (GRCm39) |
|
probably benign |
Het |
| Gbp8 |
T |
A |
5: 105,198,863 (GRCm39) |
E17D |
probably benign |
Het |
| Grik5 |
G |
A |
7: 24,764,818 (GRCm39) |
H108Y |
probably damaging |
Het |
| Gsap |
G |
A |
5: 21,426,303 (GRCm39) |
|
probably benign |
Het |
| Gsap |
G |
A |
5: 21,459,022 (GRCm39) |
V496M |
probably damaging |
Het |
| Hectd1 |
C |
T |
12: 51,795,571 (GRCm39) |
S2286N |
probably damaging |
Het |
| Hgf |
A |
T |
5: 16,803,228 (GRCm39) |
Q380L |
probably damaging |
Het |
| Hsd11b1 |
C |
T |
1: 192,923,766 (GRCm39) |
M1I |
probably null |
Het |
| Kank2 |
A |
G |
9: 21,691,775 (GRCm39) |
|
probably benign |
Het |
| Klhl6 |
G |
A |
16: 19,775,812 (GRCm39) |
L249F |
probably benign |
Het |
| Lrba |
A |
T |
3: 86,234,992 (GRCm39) |
M846L |
probably damaging |
Het |
| Macrod2 |
T |
A |
2: 142,052,069 (GRCm39) |
|
probably benign |
Het |
| Mroh9 |
A |
T |
1: 162,852,227 (GRCm39) |
S821T |
probably benign |
Het |
| Myo5a |
A |
G |
9: 75,076,241 (GRCm39) |
T819A |
probably benign |
Het |
| Neb |
A |
T |
2: 52,095,744 (GRCm39) |
|
probably benign |
Het |
| Pcyt1b |
T |
C |
X: 92,778,515 (GRCm39) |
F255L |
probably benign |
Het |
| Rttn |
T |
A |
18: 88,990,633 (GRCm39) |
S57T |
probably benign |
Het |
| Senp2 |
A |
G |
16: 21,837,114 (GRCm39) |
D121G |
probably damaging |
Het |
| Slc25a21 |
A |
T |
12: 56,760,597 (GRCm39) |
|
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,325,487 (GRCm39) |
|
probably benign |
Het |
| Spats2l |
T |
A |
1: 57,924,864 (GRCm39) |
N87K |
probably damaging |
Het |
| Sulf1 |
A |
G |
1: 12,918,673 (GRCm39) |
D99G |
probably damaging |
Het |
| Sytl2 |
T |
A |
7: 90,031,906 (GRCm39) |
|
probably benign |
Het |
| Trim13 |
T |
C |
14: 61,843,119 (GRCm39) |
F379L |
probably benign |
Het |
|
| Other mutations in Crygd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00639:Crygd
|
APN |
1 |
65,101,250 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL00640:Crygd
|
APN |
1 |
65,101,250 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL00650:Crygd
|
APN |
1 |
65,101,250 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL00654:Crygd
|
APN |
1 |
65,101,250 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL00732:Crygd
|
APN |
1 |
65,101,250 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL00755:Crygd
|
APN |
1 |
65,101,250 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL00772:Crygd
|
APN |
1 |
65,101,250 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL00852:Crygd
|
APN |
1 |
65,101,250 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL00861:Crygd
|
APN |
1 |
65,101,250 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL00863:Crygd
|
APN |
1 |
65,101,250 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL00864:Crygd
|
APN |
1 |
65,101,250 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL00885:Crygd
|
APN |
1 |
65,101,250 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL00886:Crygd
|
APN |
1 |
65,101,250 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01939:Crygd
|
APN |
1 |
65,101,185 (GRCm39) |
missense |
probably benign |
|
|
L23
|
UTSW |
1 |
65,102,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1400:Crygd
|
UTSW |
1 |
65,102,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1528:Crygd
|
UTSW |
1 |
65,102,216 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1862:Crygd
|
UTSW |
1 |
65,101,133 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2077:Crygd
|
UTSW |
1 |
65,102,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9308:Crygd
|
UTSW |
1 |
65,101,220 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9617:Crygd
|
UTSW |
1 |
65,102,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation