Incidental Mutation 'IGL02553:Ganc'
| ID |
298577 |
| 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: 0.779)
|
| Stock # |
IGL02553
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
120234377-120291347 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120288615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 874
(T874A)
|
| 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: ENSMUST00000124129
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127367
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131523
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135074
AA Change: T874A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000116898
Gene: ENSMUSG00000062646
AA Change: T874A
| 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: ENSMUST00000145993
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,242,750 (GRCm39) |
S1326P |
probably damaging |
Het |
| Alpk1 |
A |
T |
3: 127,466,970 (GRCm39) |
L1103Q |
probably damaging |
Het |
| Arhgap11a |
A |
C |
2: 113,667,906 (GRCm39) |
|
probably benign |
Het |
| Arl6ip6 |
A |
G |
2: 53,082,226 (GRCm39) |
Y31C |
possibly damaging |
Het |
| Arpin |
G |
T |
7: 79,577,395 (GRCm39) |
D217E |
possibly damaging |
Het |
| Atp13a4 |
C |
T |
16: 29,241,521 (GRCm39) |
V735I |
probably benign |
Het |
| Ccdc146 |
A |
T |
5: 21,502,631 (GRCm39) |
F753L |
probably benign |
Het |
| Cdh3 |
T |
A |
8: 107,270,880 (GRCm39) |
L511* |
probably null |
Het |
| Chrna1 |
A |
T |
2: 73,397,206 (GRCm39) |
I361N |
possibly damaging |
Het |
| Clk2 |
G |
A |
3: 89,083,020 (GRCm39) |
R432H |
probably damaging |
Het |
| Col9a1 |
T |
C |
1: 24,261,018 (GRCm39) |
|
probably benign |
Het |
| Cstf1 |
G |
T |
2: 172,219,774 (GRCm39) |
R295L |
probably benign |
Het |
| Dsg2 |
A |
G |
18: 20,725,467 (GRCm39) |
D526G |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,595,577 (GRCm39) |
H593Q |
probably benign |
Het |
| Dysf |
T |
C |
6: 84,107,109 (GRCm39) |
Y1171H |
possibly damaging |
Het |
| Erbb4 |
A |
G |
1: 68,345,023 (GRCm39) |
L566P |
probably benign |
Het |
| Fam185a |
T |
A |
5: 21,660,829 (GRCm39) |
D281E |
probably damaging |
Het |
| Fam185a |
T |
A |
5: 21,634,839 (GRCm39) |
|
probably benign |
Het |
| Fam91a1 |
T |
A |
15: 58,304,831 (GRCm39) |
|
probably null |
Het |
| Fat2 |
A |
G |
11: 55,202,109 (GRCm39) |
W322R |
probably damaging |
Het |
| Fbxw8 |
T |
A |
5: 118,204,125 (GRCm39) |
|
probably benign |
Het |
| Gm3543 |
T |
C |
14: 41,802,048 (GRCm39) |
I145M |
probably benign |
Het |
| Gtf2i |
G |
A |
5: 134,274,015 (GRCm39) |
T712I |
probably damaging |
Het |
| Hk1 |
A |
G |
10: 62,131,552 (GRCm39) |
S268P |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,868,774 (GRCm39) |
V10A |
probably benign |
Het |
| Hsd17b4 |
C |
T |
18: 50,295,164 (GRCm39) |
|
probably benign |
Het |
| Ighv1-75 |
A |
T |
12: 115,797,725 (GRCm39) |
W66R |
probably damaging |
Het |
| Kif21b |
G |
T |
1: 136,081,859 (GRCm39) |
D636Y |
probably damaging |
Het |
| Kif5b |
A |
T |
18: 6,220,914 (GRCm39) |
I398N |
probably benign |
Het |
| Metap2 |
T |
C |
10: 93,701,311 (GRCm39) |
M165V |
probably damaging |
Het |
| Mterf2 |
A |
C |
10: 84,956,331 (GRCm39) |
L98V |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,409,849 (GRCm39) |
|
probably null |
Het |
| Myo3b |
A |
G |
2: 69,925,568 (GRCm39) |
M12V |
probably benign |
Het |
| Nat10 |
C |
A |
2: 103,583,013 (GRCm39) |
R136I |
probably damaging |
Het |
| Nsd2 |
T |
G |
5: 34,003,542 (GRCm39) |
S231A |
probably damaging |
Het |
| Or4a71 |
T |
C |
2: 89,358,275 (GRCm39) |
T160A |
probably benign |
Het |
| Or4k37 |
A |
T |
2: 111,159,333 (GRCm39) |
M190L |
probably benign |
Het |
| Pcdhb14 |
T |
A |
18: 37,581,071 (GRCm39) |
L59* |
probably null |
Het |
| Pias4 |
A |
G |
10: 80,999,621 (GRCm39) |
L144P |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,433,746 (GRCm39) |
N598K |
probably benign |
Het |
| Polq |
A |
G |
16: 36,862,130 (GRCm39) |
Y550C |
probably damaging |
Het |
| Pot1b |
T |
A |
17: 56,002,024 (GRCm39) |
|
probably benign |
Het |
| Proz |
T |
C |
8: 13,115,260 (GRCm39) |
V92A |
probably benign |
Het |
| Rab4a |
T |
C |
8: 124,550,561 (GRCm39) |
F14L |
probably benign |
Het |
| Riok3 |
T |
A |
18: 12,276,073 (GRCm39) |
C256* |
probably null |
Het |
| Slc6a1 |
T |
A |
6: 114,279,451 (GRCm39) |
|
probably benign |
Het |
| Socs5 |
C |
T |
17: 87,442,419 (GRCm39) |
T453M |
probably damaging |
Het |
| Spata3 |
T |
C |
1: 85,952,211 (GRCm39) |
L135P |
probably damaging |
Het |
| Spata46 |
A |
G |
1: 170,139,534 (GRCm39) |
K178E |
probably damaging |
Het |
| Spr |
T |
C |
6: 85,114,430 (GRCm39) |
N100D |
probably damaging |
Het |
| Srrm4 |
C |
T |
5: 116,582,624 (GRCm39) |
|
probably benign |
Het |
| Stard3 |
T |
C |
11: 98,267,389 (GRCm39) |
F169S |
possibly damaging |
Het |
| Tbx1 |
T |
A |
16: 18,402,847 (GRCm39) |
D222V |
probably damaging |
Het |
| Trbv23 |
C |
T |
6: 41,193,279 (GRCm39) |
Q56* |
probably null |
Het |
| Tsc22d1 |
A |
G |
14: 76,654,838 (GRCm39) |
N357S |
possibly damaging |
Het |
| Ugt1a6a |
C |
T |
1: 88,066,811 (GRCm39) |
P206S |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,600,657 (GRCm39) |
V19A |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,646,447 (GRCm39) |
N1517S |
probably benign |
Het |
| Washc2 |
T |
C |
6: 116,218,571 (GRCm39) |
I672T |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation