Incidental Mutation 'R2087:Ganc'
| ID |
231501 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ganc
|
| Ensembl Gene |
ENSMUSG00000062646 |
| Gene Name |
glucosidase, alpha; neutral C |
| Synonyms |
5830445O15Rik |
| MMRRC Submission |
040092-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.752)
|
| Stock # |
R2087 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120234377-120291347 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120287738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 822
(Y822C)
|
| 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 damaging
Transcript: ENSMUST00000135074
AA Change: Y822C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116898
Gene: ENSMUSG00000062646
AA Change: Y822C
| 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
|
| Meta Mutation Damage Score |
0.7488 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
95% (57/60) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700021P04Rik |
T |
A |
19: 24,042,364 (GRCm39) |
|
noncoding transcript |
Het |
| Adamts8 |
G |
A |
9: 30,873,408 (GRCm39) |
R871Q |
probably damaging |
Het |
| Ank1 |
T |
C |
8: 23,583,827 (GRCm39) |
L310S |
probably damaging |
Het |
| Atp2a3 |
A |
G |
11: 72,871,274 (GRCm39) |
T592A |
probably damaging |
Het |
| Bpifb6 |
A |
G |
2: 153,747,998 (GRCm39) |
D219G |
possibly damaging |
Het |
| Catsper4 |
T |
C |
4: 133,953,916 (GRCm39) |
N81S |
probably damaging |
Het |
| Ccdc14 |
T |
C |
16: 34,516,015 (GRCm39) |
|
probably null |
Het |
| Ces1c |
A |
C |
8: 93,834,230 (GRCm39) |
N353K |
probably benign |
Het |
| Chrna6 |
T |
A |
8: 27,897,155 (GRCm39) |
M241L |
probably benign |
Het |
| Chtf8 |
T |
A |
8: 107,612,568 (GRCm39) |
R124* |
probably null |
Het |
| Cpt1b |
A |
G |
15: 89,306,411 (GRCm39) |
V296A |
probably benign |
Het |
| Cryl1 |
G |
A |
14: 57,513,402 (GRCm39) |
S273L |
possibly damaging |
Het |
| Ctps1 |
T |
C |
4: 120,420,012 (GRCm39) |
D134G |
probably benign |
Het |
| Cyp4f18 |
T |
C |
8: 72,754,832 (GRCm39) |
M138V |
probably benign |
Het |
| Dnajb12 |
A |
G |
10: 59,726,667 (GRCm39) |
K107R |
possibly damaging |
Het |
| Epha1 |
C |
T |
6: 42,340,502 (GRCm39) |
D590N |
probably benign |
Het |
| Fndc3b |
A |
G |
3: 27,505,703 (GRCm39) |
V855A |
probably benign |
Het |
| Hook2 |
A |
G |
8: 85,729,320 (GRCm39) |
D622G |
probably damaging |
Het |
| Kcnj8 |
T |
A |
6: 142,511,422 (GRCm39) |
N395I |
probably benign |
Het |
| Kdm4b |
T |
C |
17: 56,696,564 (GRCm39) |
S427P |
possibly damaging |
Het |
| Krt12 |
A |
G |
11: 99,309,459 (GRCm39) |
F267S |
probably damaging |
Het |
| Lrrn2 |
T |
G |
1: 132,865,489 (GRCm39) |
F185V |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,006,963 (GRCm39) |
S764P |
probably benign |
Het |
| Mfsd14b |
C |
G |
13: 65,215,796 (GRCm39) |
G386R |
probably damaging |
Het |
| Mrm2 |
A |
G |
5: 140,314,155 (GRCm39) |
S227P |
probably damaging |
Het |
| Mug1 |
A |
G |
6: 121,833,250 (GRCm39) |
N285S |
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,518,557 (GRCm39) |
T1661A |
probably benign |
Het |
| Ncoa6 |
G |
A |
2: 155,248,079 (GRCm39) |
R1742* |
probably null |
Het |
| Nln |
T |
A |
13: 104,173,877 (GRCm39) |
H548L |
probably damaging |
Het |
| Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
| Or2r3 |
A |
T |
6: 42,448,985 (GRCm39) |
N42K |
probably damaging |
Het |
| Or56b34 |
T |
A |
7: 104,937,393 (GRCm39) |
I31N |
probably benign |
Het |
| Pgm5 |
T |
C |
19: 24,710,927 (GRCm39) |
Y425C |
probably damaging |
Het |
| Pld2 |
A |
G |
11: 70,433,786 (GRCm39) |
D242G |
probably damaging |
Het |
| Plekhm1 |
A |
G |
11: 103,287,851 (GRCm39) |
|
probably null |
Het |
| Ptdss1 |
T |
C |
13: 67,124,881 (GRCm39) |
|
probably benign |
Het |
| Pyroxd2 |
G |
T |
19: 42,722,209 (GRCm39) |
L415I |
probably benign |
Het |
| Rapgef6 |
A |
G |
11: 54,522,075 (GRCm39) |
T291A |
probably damaging |
Het |
| Rb1 |
A |
G |
14: 73,517,692 (GRCm39) |
I238T |
probably benign |
Het |
| Rp1 |
G |
A |
1: 4,418,575 (GRCm39) |
H846Y |
probably damaging |
Het |
| Rpgrip1 |
T |
A |
14: 52,374,079 (GRCm39) |
|
probably null |
Het |
| Scaf4 |
T |
C |
16: 90,049,313 (GRCm39) |
D258G |
unknown |
Het |
| Ska1 |
A |
T |
18: 74,339,920 (GRCm39) |
C9S |
probably benign |
Het |
| Skp2 |
C |
A |
15: 9,113,786 (GRCm39) |
G376C |
probably damaging |
Het |
| Slc43a1 |
G |
A |
2: 84,680,175 (GRCm39) |
R107Q |
probably damaging |
Het |
| Slc44a3 |
T |
A |
3: 121,319,319 (GRCm39) |
N141Y |
probably damaging |
Het |
| Slit1 |
A |
T |
19: 41,625,922 (GRCm39) |
D613E |
probably benign |
Het |
| Spata22 |
A |
T |
11: 73,231,079 (GRCm39) |
Y111F |
probably benign |
Het |
| Tchh |
C |
A |
3: 93,351,225 (GRCm39) |
R222S |
unknown |
Het |
| Tekt3 |
A |
G |
11: 62,985,523 (GRCm39) |
D443G |
possibly damaging |
Het |
| Tns2 |
A |
T |
15: 102,015,554 (GRCm39) |
Q144L |
possibly damaging |
Het |
| Troap |
T |
C |
15: 98,976,698 (GRCm39) |
V274A |
possibly damaging |
Het |
| Ugt1a8 |
A |
G |
1: 88,015,995 (GRCm39) |
Y136C |
probably damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,718,458 (GRCm39) |
M604L |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,597,639 (GRCm39) |
W1060R |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,042,926 (GRCm39) |
S1942P |
probably damaging |
Het |
| Wdr90 |
G |
A |
17: 26,065,577 (GRCm39) |
T1596I |
probably damaging |
Het |
| Zc3h4 |
A |
G |
7: 16,150,865 (GRCm39) |
E69G |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCAGTTCAAATGCTCAGC -3'
(R):5'- TGATTCATTGGTACATGGAGGAATG -3'
Sequencing Primer
(F):5'- GCAGTTCAAATGCTCAGCTCTTCAG -3'
(R):5'- GCAACCAGGGTTCTTTAAGC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation