Incidental Mutation 'IGL03356:Ganc'
| ID |
419939 |
| 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 # |
IGL03356
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
120234377-120291347 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120265769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 439
(I439T)
|
| 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
AA Change: I439T
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000116898
Gene: ENSMUSG00000062646
AA Change: I439T
| 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: ENSMUST00000145134
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
C |
15: 60,791,737 (GRCm39) |
M233R |
probably benign |
Het |
| Aadat |
T |
C |
8: 60,984,725 (GRCm39) |
M256T |
probably damaging |
Het |
| Adamts16 |
T |
C |
13: 70,901,410 (GRCm39) |
N889S |
probably benign |
Het |
| Camkk2 |
A |
T |
5: 122,881,937 (GRCm39) |
I235N |
probably damaging |
Het |
| Card6 |
C |
T |
15: 5,129,723 (GRCm39) |
A558T |
probably benign |
Het |
| Ccdc175 |
T |
G |
12: 72,186,667 (GRCm39) |
|
probably null |
Het |
| Crot |
A |
G |
5: 9,038,295 (GRCm39) |
|
probably benign |
Het |
| Cyp2c67 |
A |
G |
19: 39,628,405 (GRCm39) |
S180P |
probably damaging |
Het |
| Ddx55 |
A |
G |
5: 124,692,816 (GRCm39) |
N81S |
possibly damaging |
Het |
| Dennd3 |
C |
T |
15: 73,440,482 (GRCm39) |
T1171M |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,543,093 (GRCm39) |
D2359G |
probably benign |
Het |
| Dpp8 |
T |
A |
9: 64,953,069 (GRCm39) |
N248K |
probably benign |
Het |
| Gdpgp1 |
T |
C |
7: 79,888,443 (GRCm39) |
I158T |
possibly damaging |
Het |
| Grm3 |
T |
C |
5: 9,562,206 (GRCm39) |
D548G |
possibly damaging |
Het |
| H2-DMb1 |
T |
A |
17: 34,376,514 (GRCm39) |
|
probably benign |
Het |
| Hecw2 |
A |
G |
1: 53,966,217 (GRCm39) |
|
probably benign |
Het |
| Hs3st2 |
A |
G |
7: 120,992,389 (GRCm39) |
E113G |
probably damaging |
Het |
| Hspa4 |
C |
A |
11: 53,160,627 (GRCm39) |
R483L |
probably damaging |
Het |
| Ik |
C |
A |
18: 36,889,657 (GRCm39) |
S490R |
probably damaging |
Het |
| Ldlrad1 |
G |
A |
4: 107,072,035 (GRCm39) |
V86M |
possibly damaging |
Het |
| Mfsd4b1 |
A |
C |
10: 39,878,827 (GRCm39) |
F357V |
probably damaging |
Het |
| Ndufa9 |
A |
G |
6: 126,821,813 (GRCm39) |
V54A |
possibly damaging |
Het |
| Nfe2l2 |
A |
G |
2: 75,509,544 (GRCm39) |
I92T |
probably benign |
Het |
| Oas1a |
A |
G |
5: 121,043,908 (GRCm39) |
S75P |
probably damaging |
Het |
| Oca2 |
T |
G |
7: 56,185,716 (GRCm39) |
M814R |
probably benign |
Het |
| Phlpp2 |
A |
G |
8: 110,662,249 (GRCm39) |
T879A |
probably benign |
Het |
| Potefam3e |
A |
G |
8: 19,799,463 (GRCm39) |
I304V |
probably benign |
Het |
| Rpe65 |
A |
T |
3: 159,321,214 (GRCm39) |
Y342F |
possibly damaging |
Het |
| Satb2 |
T |
C |
1: 56,930,333 (GRCm39) |
K230R |
probably damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,270,342 (GRCm39) |
T297A |
probably benign |
Het |
| Slpi |
T |
C |
2: 164,198,129 (GRCm39) |
T22A |
probably benign |
Het |
| Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
| Synj1 |
A |
G |
16: 90,784,280 (GRCm39) |
F286S |
probably damaging |
Het |
| Tektl1 |
A |
G |
10: 78,582,966 (GRCm39) |
C473R |
possibly damaging |
Het |
| Tigd2 |
T |
A |
6: 59,188,690 (GRCm39) |
I519K |
probably benign |
Het |
| Tyr |
G |
T |
7: 87,141,922 (GRCm39) |
L136I |
possibly damaging |
Het |
| Vmn1r34 |
A |
T |
6: 66,613,970 (GRCm39) |
M256K |
probably benign |
Het |
| Zmym2 |
T |
A |
14: 57,194,517 (GRCm39) |
C1258* |
probably null |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation