Incidental Mutation 'R6777:Ganc'
ID |
531327 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ganc
|
Ensembl Gene |
ENSMUSG00000062646 |
Gene Name |
glucosidase, alpha; neutral C |
Synonyms |
5830445O15Rik |
MMRRC Submission |
044893-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.752)
|
Stock # |
R6777 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120234377-120291347 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 120274630 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 584
(T584A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116898
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000135074]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000135074
AA Change: T584A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116898 Gene: ENSMUSG00000062646 AA Change: T584A
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 |
|
Meta Mutation Damage Score |
0.7723 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
Validation Efficiency |
100% (32/32) |
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900092C05Rik |
A |
T |
7: 12,246,756 (GRCm39) |
L45F |
probably benign |
Het |
Adam7 |
T |
C |
14: 68,762,784 (GRCm39) |
Y147C |
probably damaging |
Het |
Adss2 |
A |
T |
1: 177,603,902 (GRCm39) |
|
probably null |
Het |
Atp2c1 |
T |
A |
9: 105,295,799 (GRCm39) |
I812L |
possibly damaging |
Het |
Capn2 |
A |
G |
1: 182,297,742 (GRCm39) |
|
probably null |
Het |
Crybg3 |
A |
G |
16: 59,378,678 (GRCm39) |
|
probably benign |
Het |
Cux1 |
C |
G |
5: 136,594,422 (GRCm39) |
|
probably benign |
Het |
Dkk2 |
T |
A |
3: 131,879,572 (GRCm39) |
C84S |
probably damaging |
Het |
Eml3 |
T |
C |
19: 8,914,086 (GRCm39) |
V128A |
probably benign |
Het |
Fzr1 |
A |
G |
10: 81,206,327 (GRCm39) |
Y148H |
probably damaging |
Het |
Galnt9 |
G |
A |
5: 110,768,465 (GRCm39) |
R587H |
probably damaging |
Het |
Gldc |
T |
C |
19: 30,110,912 (GRCm39) |
T564A |
probably damaging |
Het |
Gm49359 |
A |
T |
13: 62,603,006 (GRCm39) |
C65S |
probably benign |
Het |
Hspa12a |
A |
G |
19: 58,810,519 (GRCm39) |
Y175H |
probably benign |
Het |
Ly6g |
A |
G |
15: 75,030,431 (GRCm39) |
D60G |
probably benign |
Het |
Or11j4 |
A |
T |
14: 50,631,115 (GRCm39) |
M301L |
probably damaging |
Het |
Pex1 |
T |
A |
5: 3,672,358 (GRCm39) |
C694S |
probably benign |
Het |
Pkd1l3 |
T |
C |
8: 110,353,446 (GRCm39) |
F676L |
probably benign |
Het |
Pla2g2c |
T |
C |
4: 138,470,976 (GRCm39) |
V119A |
probably benign |
Het |
Ralgps2 |
A |
G |
1: 156,715,515 (GRCm39) |
|
probably null |
Het |
Rbp3 |
C |
A |
14: 33,676,230 (GRCm39) |
H59Q |
probably benign |
Het |
Serpina3c |
T |
C |
12: 104,118,069 (GRCm39) |
K90E |
probably benign |
Het |
Slc24a3 |
A |
G |
2: 145,482,202 (GRCm39) |
Y620C |
probably damaging |
Het |
Smg1 |
C |
A |
7: 117,788,340 (GRCm39) |
|
probably benign |
Het |
Srp68 |
A |
T |
11: 116,153,730 (GRCm39) |
V198E |
probably damaging |
Het |
Ssx2ip |
C |
T |
3: 146,144,476 (GRCm39) |
T580M |
possibly damaging |
Het |
Terf2 |
A |
G |
8: 107,797,169 (GRCm39) |
V434A |
possibly damaging |
Het |
Tmem242 |
G |
A |
17: 5,483,830 (GRCm39) |
P71S |
probably damaging |
Het |
Tmprss13 |
C |
T |
9: 45,247,399 (GRCm39) |
R254* |
probably null |
Het |
Trgv3 |
A |
G |
13: 19,427,450 (GRCm39) |
Y111C |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAAGTGGGACAAGAAACCC -3'
(R):5'- CATTCATCCTTGCCCCAACA -3'
Sequencing Primer
(F):5'- ATATTGCTCTGTAGACCAGGC -3'
(R):5'- ACAGAAGGAGATTCCCGA -3'
|
Posted On |
2018-08-29 |