Incidental Mutation 'IGL00913:Ganc'
ID |
26862 |
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 # |
IGL00913
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
120234377-120291347 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 120269933 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 benign
Transcript: ENSMUST00000135074
|
SMART Domains |
Protein: ENSMUSP00000116898 Gene: ENSMUSG00000062646
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf4 |
A |
G |
17: 42,977,793 (GRCm39) |
S517P |
possibly damaging |
Het |
Arl4c |
T |
C |
1: 88,629,106 (GRCm39) |
D94G |
probably damaging |
Het |
Bag5 |
T |
C |
12: 111,677,766 (GRCm39) |
E19G |
probably damaging |
Het |
Carf |
T |
A |
1: 60,187,114 (GRCm39) |
D537E |
probably benign |
Het |
Cd177 |
C |
A |
7: 24,455,620 (GRCm39) |
D301Y |
probably damaging |
Het |
Csmd1 |
C |
T |
8: 16,121,301 (GRCm39) |
V1799I |
probably benign |
Het |
Cyp4x1 |
T |
A |
4: 114,970,060 (GRCm39) |
I356F |
probably benign |
Het |
F5 |
A |
T |
1: 164,032,465 (GRCm39) |
H1804L |
probably damaging |
Het |
Fras1 |
G |
T |
5: 96,842,935 (GRCm39) |
G1718C |
probably damaging |
Het |
Hs3st5 |
A |
G |
10: 36,708,846 (GRCm39) |
D127G |
probably damaging |
Het |
Inpp5a |
A |
G |
7: 139,096,637 (GRCm39) |
D154G |
probably benign |
Het |
Kif16b |
T |
A |
2: 142,545,927 (GRCm39) |
R1134* |
probably null |
Het |
Lrrc66 |
C |
T |
5: 73,765,499 (GRCm39) |
A515T |
possibly damaging |
Het |
Map3k10 |
C |
T |
7: 27,362,640 (GRCm39) |
|
probably benign |
Het |
Mideas |
T |
A |
12: 84,219,632 (GRCm39) |
I441L |
probably benign |
Het |
Mrpl12 |
G |
A |
11: 120,376,202 (GRCm39) |
D71N |
possibly damaging |
Het |
Nfix |
A |
T |
8: 85,453,106 (GRCm39) |
V316E |
probably damaging |
Het |
Nop2 |
A |
G |
6: 125,116,784 (GRCm39) |
Y346C |
probably damaging |
Het |
Nrbp1 |
A |
G |
5: 31,408,403 (GRCm39) |
E513G |
possibly damaging |
Het |
Ogfrl1 |
T |
C |
1: 23,409,171 (GRCm39) |
I352V |
probably benign |
Het |
Or7a35 |
A |
G |
10: 78,854,085 (GRCm39) |
T310A |
probably benign |
Het |
Or8b48 |
T |
A |
9: 38,492,672 (GRCm39) |
V33E |
probably damaging |
Het |
Oxr1 |
G |
A |
15: 41,683,539 (GRCm39) |
V15I |
possibly damaging |
Het |
Pik3r6 |
T |
G |
11: 68,442,147 (GRCm39) |
F697C |
probably damaging |
Het |
Ptk2 |
A |
G |
15: 73,167,238 (GRCm39) |
|
probably benign |
Het |
Rnft2 |
G |
A |
5: 118,339,280 (GRCm39) |
T380M |
probably damaging |
Het |
Scel |
A |
G |
14: 103,819,245 (GRCm39) |
N346S |
probably benign |
Het |
Sema4a |
T |
A |
3: 88,357,117 (GRCm39) |
T153S |
probably damaging |
Het |
Serinc2 |
A |
T |
4: 130,158,201 (GRCm39) |
L82Q |
possibly damaging |
Het |
Sin3a |
A |
G |
9: 57,005,402 (GRCm39) |
T392A |
probably benign |
Het |
Slc25a38 |
T |
A |
9: 119,949,373 (GRCm39) |
Y108* |
probably null |
Het |
Tmc8 |
G |
A |
11: 117,677,330 (GRCm39) |
G317R |
probably damaging |
Het |
Trpc3 |
A |
G |
3: 36,694,788 (GRCm39) |
V722A |
possibly damaging |
Het |
Unc93a2 |
A |
T |
17: 7,637,138 (GRCm39) |
V130D |
probably damaging |
Het |
|
Other mutations in Ganc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00785:Ganc
|
APN |
2 |
120,272,079 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-04-17 |