Incidental Mutation 'IGL00785:Ganc'
ID |
10912 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ganc
|
Ensembl Gene |
ENSMUSG00000062646 |
Gene Name |
glucosidase, alpha; neutral C |
Synonyms |
5830445O15Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.752)
|
Stock # |
IGL00785
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
120234377-120291347 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 120272079 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Serine
at position 579
(Y579S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116898
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000135074]
|
AlphaFold |
no structure available at present |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000043755
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131523
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132835
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000135074
AA Change: Y579S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000116898 Gene: ENSMUSG00000062646 AA Change: Y579S
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: ENSMUST00000152437
|
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cpt1a |
T |
A |
19: 3,416,389 (GRCm39) |
N313K |
possibly damaging |
Het |
Crb2 |
G |
A |
2: 37,682,076 (GRCm39) |
C819Y |
probably damaging |
Het |
Ctnna3 |
T |
G |
10: 63,402,612 (GRCm39) |
F108V |
probably damaging |
Het |
Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
Fam120a |
A |
G |
13: 49,042,609 (GRCm39) |
S931P |
probably benign |
Het |
Hsd17b12 |
A |
G |
2: 93,875,759 (GRCm39) |
S189P |
probably damaging |
Het |
Itprid2 |
A |
G |
2: 79,487,612 (GRCm39) |
E565G |
possibly damaging |
Het |
Kif11 |
C |
A |
19: 37,392,745 (GRCm39) |
L559I |
probably benign |
Het |
Kif11 |
T |
C |
19: 37,392,746 (GRCm39) |
L559P |
probably damaging |
Het |
Luc7l2 |
T |
C |
6: 38,575,721 (GRCm39) |
S261P |
possibly damaging |
Het |
Myo7a |
T |
C |
7: 97,703,555 (GRCm39) |
K2035E |
probably damaging |
Het |
Nbea |
A |
G |
3: 55,862,814 (GRCm39) |
S1813P |
probably benign |
Het |
Osbpl8 |
A |
G |
10: 111,108,905 (GRCm39) |
T396A |
probably benign |
Het |
Ppfibp2 |
A |
G |
7: 107,337,094 (GRCm39) |
T560A |
probably benign |
Het |
Rictor |
A |
C |
15: 6,806,431 (GRCm39) |
Q683P |
probably damaging |
Het |
Ryr3 |
A |
T |
2: 112,666,448 (GRCm39) |
H1519Q |
possibly damaging |
Het |
Slc34a2 |
A |
T |
5: 53,222,950 (GRCm39) |
I347F |
probably benign |
Het |
Sned1 |
C |
A |
1: 93,201,891 (GRCm39) |
|
probably benign |
Het |
St7l |
A |
G |
3: 104,780,895 (GRCm39) |
|
probably benign |
Het |
Trmu |
T |
A |
15: 85,767,032 (GRCm39) |
D80E |
probably benign |
Het |
Trpv4 |
A |
G |
5: 114,766,686 (GRCm39) |
V620A |
probably damaging |
Het |
Ubr2 |
G |
A |
17: 47,255,791 (GRCm39) |
T1370I |
possibly damaging |
Het |
Xpo5 |
T |
C |
17: 46,515,618 (GRCm39) |
V48A |
probably damaging |
Het |
Zfp638 |
T |
C |
6: 83,906,146 (GRCm39) |
W104R |
probably damaging |
Het |
|
Other mutations in Ganc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00913:Ganc
|
APN |
2 |
120,269,933 (GRCm39) |
splice site |
probably benign |
|
IGL01077:Ganc
|
APN |
2 |
120,276,996 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL01773:Ganc
|
APN |
2 |
120,290,365 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL01812:Ganc
|
APN |
2 |
120,242,007 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02029:Ganc
|
APN |
2 |
120,290,338 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02067:Ganc
|
APN |
2 |
120,236,785 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02290:Ganc
|
APN |
2 |
120,278,904 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02355:Ganc
|
APN |
2 |
120,264,238 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02362:Ganc
|
APN |
2 |
120,264,238 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02553:Ganc
|
APN |
2 |
120,288,615 (GRCm39) |
missense |
probably benign |
|
IGL02808:Ganc
|
APN |
2 |
120,241,992 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02966:Ganc
|
APN |
2 |
120,264,129 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03356:Ganc
|
APN |
2 |
120,265,769 (GRCm39) |
missense |
probably benign |
0.22 |
IGL03405:Ganc
|
APN |
2 |
120,264,247 (GRCm39) |
missense |
probably damaging |
1.00 |
ingenuous
|
UTSW |
2 |
120,274,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R0464:Ganc
|
UTSW |
2 |
120,267,175 (GRCm39) |
missense |
probably benign |
0.07 |
R0511:Ganc
|
UTSW |
2 |
120,278,882 (GRCm39) |
nonsense |
probably null |
|
R0932:Ganc
|
UTSW |
2 |
120,288,610 (GRCm39) |
missense |
probably damaging |
0.99 |
R1467:Ganc
|
UTSW |
2 |
120,261,409 (GRCm39) |
splice site |
probably benign |
|
R1902:Ganc
|
UTSW |
2 |
120,276,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R2087:Ganc
|
UTSW |
2 |
120,287,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R4668:Ganc
|
UTSW |
2 |
120,261,548 (GRCm39) |
missense |
probably benign |
0.02 |
R4669:Ganc
|
UTSW |
2 |
120,261,548 (GRCm39) |
missense |
probably benign |
0.02 |
R4725:Ganc
|
UTSW |
2 |
120,265,754 (GRCm39) |
missense |
probably damaging |
0.99 |
R4735:Ganc
|
UTSW |
2 |
120,267,104 (GRCm39) |
splice site |
silent |
|
R4738:Ganc
|
UTSW |
2 |
120,283,075 (GRCm39) |
missense |
probably damaging |
0.97 |
R4839:Ganc
|
UTSW |
2 |
120,290,304 (GRCm39) |
missense |
probably benign |
|
R4951:Ganc
|
UTSW |
2 |
120,286,528 (GRCm39) |
missense |
probably benign |
0.00 |
R5841:Ganc
|
UTSW |
2 |
120,242,020 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5997:Ganc
|
UTSW |
2 |
120,261,086 (GRCm39) |
missense |
possibly damaging |
0.55 |
R6142:Ganc
|
UTSW |
2 |
120,261,218 (GRCm39) |
critical splice donor site |
probably null |
|
R6378:Ganc
|
UTSW |
2 |
120,264,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R6711:Ganc
|
UTSW |
2 |
120,281,320 (GRCm39) |
missense |
possibly damaging |
0.74 |
R6777:Ganc
|
UTSW |
2 |
120,274,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R7229:Ganc
|
UTSW |
2 |
120,258,256 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7235:Ganc
|
UTSW |
2 |
120,264,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R7241:Ganc
|
UTSW |
2 |
120,272,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R7326:Ganc
|
UTSW |
2 |
120,261,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R7567:Ganc
|
UTSW |
2 |
120,286,582 (GRCm39) |
missense |
probably benign |
0.01 |
R7685:Ganc
|
UTSW |
2 |
120,264,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R7736:Ganc
|
UTSW |
2 |
120,264,295 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7784:Ganc
|
UTSW |
2 |
120,267,149 (GRCm39) |
nonsense |
probably null |
|
R7955:Ganc
|
UTSW |
2 |
120,261,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R8222:Ganc
|
UTSW |
2 |
120,276,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R8247:Ganc
|
UTSW |
2 |
120,267,181 (GRCm39) |
missense |
probably null |
0.52 |
R8306:Ganc
|
UTSW |
2 |
120,252,560 (GRCm39) |
missense |
probably benign |
0.02 |
R9282:Ganc
|
UTSW |
2 |
120,290,381 (GRCm39) |
missense |
probably benign |
|
X0027:Ganc
|
UTSW |
2 |
120,278,931 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Ganc
|
UTSW |
2 |
120,264,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |