Incidental Mutation 'IGL01812:Ganc'
ID | 154290 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ganc
|
Ensembl Gene |
ENSMUSG00000062646 |
Gene Name | glucosidase, alpha; neutral C |
Synonyms | 5830445O15Rik |
Accession Numbers | |
Is this an essential gene? |
Possibly essential (E-score: 0.724)
|
Stock # | IGL01812
|
Quality Score | |
Status |
|
Chromosome | 2 |
Chromosomal Location | 120403896-120461700 bp(+) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
A to G
at 120411526 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 62
(I62V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116898
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000135074]
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000043755
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131523
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132835
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135074
AA Change: I62V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000116898 Gene: ENSMUSG00000062646 AA Change: I62V
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
44 |
N/A |
INTRINSIC |
Pfam:Gal_mutarotas_2
|
221 |
292 |
2.3e-21 |
PFAM |
Pfam:Glyco_hydro_31
|
333 |
778 |
2.5e-137 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136993
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143409
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152437
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153660
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154404
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154435
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154574
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154963
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glycosyl hydrolase enzymes hydrolyse the glycosidic bond between two or more carbohydrates, or between a carbohydrate and a non-carbohydrate moiety. This gene encodes a member of glycosyl hydrolases family 31. This enzyme hydrolyses terminal, non-reducing 1,4-linked alpha-D-glucose residues and releases alpha-D-glucose. This is a key enzyme in glycogen metabolism and its gene localizes to a chromosomal region (15q15) that is associated with susceptibility to diabetes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2014]
|
Allele List at MGI | |
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010300C02Rik |
T |
A |
1: 37,625,365 |
D484V |
probably benign |
Het |
4931428F04Rik |
C |
T |
8: 105,284,657 |
|
probably benign |
Het |
Alpk3 |
A |
G |
7: 81,100,202 |
Y1456C |
probably damaging |
Het |
Apobr |
A |
G |
7: 126,587,922 |
D840G |
probably damaging |
Het |
Cd300lf |
T |
C |
11: 115,120,288 |
R175G |
probably damaging |
Het |
Chil5 |
A |
G |
3: 106,017,152 |
S426P |
possibly damaging |
Het |
Cngb3 |
T |
G |
4: 19,461,728 |
I536M |
possibly damaging |
Het |
Cyp4f15 |
G |
A |
17: 32,686,157 |
R38H |
probably benign |
Het |
Ddb1 |
A |
C |
19: 10,613,018 |
E303A |
probably damaging |
Het |
Dis3l |
T |
A |
9: 64,310,237 |
E822V |
probably benign |
Het |
Erich3 |
T |
C |
3: 154,713,971 |
V234A |
possibly damaging |
Het |
Evi5l |
T |
C |
8: 4,193,219 |
|
probably null |
Het |
Exoc4 |
T |
C |
6: 33,757,959 |
|
probably benign |
Het |
Fam172a |
T |
A |
13: 77,761,847 |
L27* |
probably null |
Het |
Itpkb |
T |
C |
1: 180,420,286 |
F823S |
probably damaging |
Het |
Izumo2 |
A |
G |
7: 44,709,095 |
N14S |
possibly damaging |
Het |
Nbas |
T |
C |
12: 13,453,503 |
C1545R |
probably damaging |
Het |
Olfr1213 |
A |
T |
2: 88,973,524 |
Y122* |
probably null |
Het |
Pds5b |
A |
T |
5: 150,780,689 |
R852S |
probably damaging |
Het |
Polh |
G |
A |
17: 46,172,911 |
A476V |
probably benign |
Het |
Prune2 |
T |
A |
19: 17,003,777 |
D99E |
possibly damaging |
Het |
Tdrd6 |
A |
G |
17: 43,625,174 |
V1661A |
probably benign |
Het |
Tor1aip2 |
A |
G |
1: 156,059,539 |
S7G |
probably benign |
Het |
Vps13a |
A |
G |
19: 16,715,060 |
V830A |
probably benign |
Het |
Vps39 |
G |
A |
2: 120,320,790 |
|
probably benign |
Het |
Zdhhc17 |
T |
A |
10: 110,948,217 |
H466L |
possibly damaging |
Het |
|
Other mutations in Ganc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00785:Ganc
|
APN |
2 |
120441598 |
missense |
probably damaging |
1.00 |
IGL00913:Ganc
|
APN |
2 |
120439452 |
splice site |
probably benign |
|
IGL01077:Ganc
|
APN |
2 |
120446515 |
missense |
possibly damaging |
0.50 |
IGL01773:Ganc
|
APN |
2 |
120459884 |
missense |
possibly damaging |
0.87 |
IGL02029:Ganc
|
APN |
2 |
120459857 |
missense |
probably benign |
0.00 |
IGL02067:Ganc
|
APN |
2 |
120406304 |
missense |
probably benign |
0.16 |
IGL02290:Ganc
|
APN |
2 |
120448423 |
missense |
possibly damaging |
0.90 |
IGL02355:Ganc
|
APN |
2 |
120433757 |
missense |
probably damaging |
1.00 |
IGL02362:Ganc
|
APN |
2 |
120433757 |
missense |
probably damaging |
1.00 |
IGL02553:Ganc
|
APN |
2 |
120458134 |
missense |
probably benign |
|
IGL02808:Ganc
|
APN |
2 |
120411511 |
missense |
probably benign |
0.00 |
IGL02966:Ganc
|
APN |
2 |
120433648 |
missense |
probably damaging |
1.00 |
IGL03356:Ganc
|
APN |
2 |
120435288 |
missense |
probably benign |
0.22 |
IGL03405:Ganc
|
APN |
2 |
120433766 |
missense |
probably damaging |
1.00 |
ingenuous
|
UTSW |
2 |
120444149 |
missense |
probably damaging |
1.00 |
R0464:Ganc
|
UTSW |
2 |
120436694 |
missense |
probably benign |
0.07 |
R0511:Ganc
|
UTSW |
2 |
120448401 |
nonsense |
probably null |
|
R0932:Ganc
|
UTSW |
2 |
120458129 |
missense |
probably damaging |
0.99 |
R1467:Ganc
|
UTSW |
2 |
120430928 |
splice site |
probably benign |
|
R1902:Ganc
|
UTSW |
2 |
120446482 |
missense |
probably damaging |
1.00 |
R2087:Ganc
|
UTSW |
2 |
120457257 |
missense |
probably damaging |
1.00 |
R4668:Ganc
|
UTSW |
2 |
120431067 |
missense |
probably benign |
0.02 |
R4669:Ganc
|
UTSW |
2 |
120431067 |
missense |
probably benign |
0.02 |
R4725:Ganc
|
UTSW |
2 |
120435273 |
missense |
probably damaging |
0.99 |
R4735:Ganc
|
UTSW |
2 |
120436623 |
splice site |
silent |
|
R4738:Ganc
|
UTSW |
2 |
120452594 |
missense |
probably damaging |
0.97 |
R4839:Ganc
|
UTSW |
2 |
120459823 |
missense |
probably benign |
|
R4951:Ganc
|
UTSW |
2 |
120456047 |
missense |
probably benign |
0.00 |
R5841:Ganc
|
UTSW |
2 |
120411539 |
missense |
possibly damaging |
0.65 |
R5997:Ganc
|
UTSW |
2 |
120430605 |
missense |
possibly damaging |
0.55 |
R6142:Ganc
|
UTSW |
2 |
120430737 |
critical splice donor site |
probably null |
|
R6378:Ganc
|
UTSW |
2 |
120433826 |
missense |
probably damaging |
1.00 |
R6711:Ganc
|
UTSW |
2 |
120450839 |
missense |
possibly damaging |
0.74 |
R6777:Ganc
|
UTSW |
2 |
120444149 |
missense |
probably damaging |
1.00 |
R7229:Ganc
|
UTSW |
2 |
120427775 |
missense |
possibly damaging |
0.92 |
R7235:Ganc
|
UTSW |
2 |
120433717 |
missense |
probably damaging |
1.00 |
R7241:Ganc
|
UTSW |
2 |
120441529 |
missense |
probably damaging |
1.00 |
R7326:Ganc
|
UTSW |
2 |
120430599 |
missense |
probably damaging |
1.00 |
R7567:Ganc
|
UTSW |
2 |
120456101 |
missense |
probably benign |
0.01 |
R7685:Ganc
|
UTSW |
2 |
120433792 |
missense |
probably damaging |
1.00 |
R7736:Ganc
|
UTSW |
2 |
120433814 |
missense |
possibly damaging |
0.83 |
R7784:Ganc
|
UTSW |
2 |
120436668 |
nonsense |
probably null |
|
R7955:Ganc
|
UTSW |
2 |
120430700 |
missense |
probably damaging |
1.00 |
R8222:Ganc
|
UTSW |
2 |
120446452 |
missense |
probably damaging |
1.00 |
R8247:Ganc
|
UTSW |
2 |
120436700 |
missense |
probably null |
0.52 |
R8306:Ganc
|
UTSW |
2 |
120422079 |
missense |
probably benign |
0.02 |
X0027:Ganc
|
UTSW |
2 |
120448450 |
missense |
probably damaging |
1.00 |
Z1177:Ganc
|
UTSW |
2 |
120433794 |
missense |
probably damaging |
1.00 |
|
Posted On | 2014-02-04 |