Incidental Mutation 'IGL02966:Ganc'
| ID |
365601 |
| 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 # |
IGL02966
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
120234377-120291347 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120264129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 361
(S361P)
|
| 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 damaging
Transcript: ENSMUST00000135074
AA Change: S361P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116898
Gene: ENSMUSG00000062646
AA Change: S361P
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930595M18Rik |
A |
T |
X: 80,463,317 (GRCm39) |
Y797N |
possibly damaging |
Het |
| Actbl2 |
G |
A |
13: 111,392,106 (GRCm39) |
G147E |
probably damaging |
Het |
| Adam18 |
A |
T |
8: 25,101,165 (GRCm39) |
|
probably benign |
Het |
| Ahcyl2 |
G |
A |
6: 29,880,556 (GRCm39) |
V175I |
probably benign |
Het |
| Alox12 |
T |
A |
11: 70,140,911 (GRCm39) |
T375S |
probably damaging |
Het |
| Batf2 |
C |
A |
19: 6,221,819 (GRCm39) |
Q210K |
probably damaging |
Het |
| Bicd1 |
T |
C |
6: 149,385,494 (GRCm39) |
S76P |
probably damaging |
Het |
| Bphl |
A |
T |
13: 34,247,980 (GRCm39) |
H251L |
probably damaging |
Het |
| C130074G19Rik |
C |
A |
1: 184,614,943 (GRCm39) |
E82D |
probably damaging |
Het |
| Calu |
A |
T |
6: 29,356,584 (GRCm39) |
K39* |
probably null |
Het |
| Capns1 |
T |
C |
7: 29,891,618 (GRCm39) |
D142G |
probably damaging |
Het |
| Ccr8 |
T |
C |
9: 119,923,206 (GRCm39) |
V107A |
probably damaging |
Het |
| Cep170b |
G |
A |
12: 112,702,878 (GRCm39) |
G447D |
possibly damaging |
Het |
| Chat |
C |
T |
14: 32,170,903 (GRCm39) |
V199M |
probably damaging |
Het |
| Cntnap1 |
G |
T |
11: 101,075,575 (GRCm39) |
V918L |
probably damaging |
Het |
| Cyp27a1 |
A |
G |
1: 74,771,249 (GRCm39) |
T145A |
probably benign |
Het |
| Dgkq |
T |
A |
5: 108,804,287 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,369,948 (GRCm39) |
I4458V |
probably benign |
Het |
| Enpp1 |
T |
A |
10: 24,536,172 (GRCm39) |
E409D |
probably damaging |
Het |
| Fam78b |
G |
T |
1: 166,906,457 (GRCm39) |
L205F |
probably damaging |
Het |
| Foxr2 |
C |
A |
X: 151,913,677 (GRCm39) |
R183S |
probably damaging |
Het |
| Gfra4 |
C |
A |
2: 130,884,560 (GRCm39) |
A15S |
possibly damaging |
Het |
| Gm8011 |
A |
T |
14: 42,287,957 (GRCm39) |
D145V |
unknown |
Het |
| Gnb4 |
A |
G |
3: 32,639,372 (GRCm39) |
V307A |
probably benign |
Het |
| Hdac4 |
A |
T |
1: 91,982,667 (GRCm39) |
V17E |
possibly damaging |
Het |
| Herc6 |
G |
A |
6: 57,560,318 (GRCm39) |
|
probably null |
Het |
| Hivep3 |
A |
G |
4: 119,989,383 (GRCm39) |
T1945A |
probably benign |
Het |
| Ica1l |
A |
T |
1: 60,049,298 (GRCm39) |
N218K |
probably damaging |
Het |
| Kmt2b |
A |
T |
7: 30,274,887 (GRCm39) |
L1939Q |
probably benign |
Het |
| Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
| Marchf8 |
C |
T |
6: 116,380,499 (GRCm39) |
R117C |
probably damaging |
Het |
| Megf6 |
T |
C |
4: 154,338,234 (GRCm39) |
S327P |
probably damaging |
Het |
| Mocos |
T |
G |
18: 24,809,668 (GRCm39) |
C424G |
probably damaging |
Het |
| Mrpl50 |
A |
G |
4: 49,521,014 (GRCm39) |
W14R |
probably benign |
Het |
| Mysm1 |
A |
T |
4: 94,863,523 (GRCm39) |
D23E |
probably benign |
Het |
| Naa35 |
T |
A |
13: 59,734,085 (GRCm39) |
D34E |
probably benign |
Het |
| Nid1 |
A |
G |
13: 13,656,806 (GRCm39) |
I646V |
probably benign |
Het |
| Nupr1 |
T |
C |
7: 126,224,073 (GRCm39) |
|
probably benign |
Het |
| Or2aj6 |
G |
T |
16: 19,443,051 (GRCm39) |
H266Q |
probably damaging |
Het |
| Or5b24 |
A |
T |
19: 12,912,164 (GRCm39) |
I21F |
probably benign |
Het |
| Or8b12b |
T |
G |
9: 37,684,882 (GRCm39) |
L309R |
probably benign |
Het |
| Pcbp2 |
A |
C |
15: 102,392,684 (GRCm39) |
|
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,232,156 (GRCm39) |
Q158R |
probably damaging |
Het |
| Pdzd8 |
T |
C |
19: 59,289,291 (GRCm39) |
Y703C |
probably damaging |
Het |
| Plxnb3 |
T |
C |
X: 72,808,889 (GRCm39) |
S885P |
probably benign |
Het |
| Poc1b |
T |
A |
10: 98,980,176 (GRCm39) |
C136S |
probably damaging |
Het |
| Pole2 |
T |
C |
12: 69,256,649 (GRCm39) |
D292G |
probably damaging |
Het |
| Prpf39 |
T |
C |
12: 65,089,553 (GRCm39) |
V97A |
probably benign |
Het |
| Rbbp8 |
T |
A |
18: 11,838,869 (GRCm39) |
H183Q |
possibly damaging |
Het |
| Scn2a |
C |
T |
2: 65,532,188 (GRCm39) |
T600M |
possibly damaging |
Het |
| Spata32 |
T |
C |
11: 103,099,629 (GRCm39) |
Q292R |
possibly damaging |
Het |
| Sugp1 |
T |
C |
8: 70,523,758 (GRCm39) |
|
probably benign |
Het |
| Sult3a1 |
A |
C |
10: 33,753,269 (GRCm39) |
|
probably benign |
Het |
| Tpm3-rs7 |
C |
T |
14: 113,552,810 (GRCm39) |
Q235* |
probably null |
Het |
| Trbv2 |
A |
T |
6: 41,024,685 (GRCm39) |
T34S |
possibly damaging |
Het |
| Tssk6 |
A |
G |
8: 70,355,535 (GRCm39) |
Y193C |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,538,802 (GRCm39) |
K34676R |
possibly damaging |
Het |
| Ugt3a1 |
T |
C |
15: 9,370,154 (GRCm39) |
Y433H |
probably damaging |
Het |
| Wdhd1 |
T |
C |
14: 47,479,101 (GRCm39) |
K1072E |
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 |
|
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 |
2015-12-18 |
Incidental Mutation