Incidental Mutation 'R9282:Ganc'
| ID |
703677 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ganc
|
| Ensembl Gene |
ENSMUSG00000062646 |
| Gene Name |
glucosidase, alpha; neutral C |
| Synonyms |
5830445O15Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.779)
|
| Stock # |
R9282 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
120234377-120291347 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120290381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 906
(E906G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028749]
[ENSMUST00000110721]
[ENSMUST00000135074]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028749
|
| SMART Domains |
Protein: ENSMUSP00000028749
Gene: ENSMUSG00000079110
| Domain | Start | End | E-Value | Type |
|---|
|
CysPc
|
56 |
425 |
2.09e-212 |
SMART |
|
calpain_III
|
428 |
582 |
4.27e-90 |
SMART |
|
Pfam:Calpain_u2
|
583 |
653 |
1.3e-31 |
PFAM |
|
EFh
|
696 |
724 |
5.53e-4 |
SMART |
|
EFh
|
726 |
754 |
1.8e-3 |
SMART |
|
EFh
|
791 |
819 |
4.32e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110721
|
| SMART Domains |
Protein: ENSMUSP00000106349
Gene: ENSMUSG00000079110
| Domain | Start | End | E-Value | Type |
|---|
|
CysPc
|
56 |
377 |
1.13e-208 |
SMART |
|
calpain_III
|
380 |
534 |
4.27e-90 |
SMART |
|
EFh
|
604 |
632 |
5.53e-4 |
SMART |
|
EFh
|
634 |
662 |
1.8e-3 |
SMART |
|
EFh
|
699 |
727 |
4.32e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135074
AA Change: E906G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000116898
Gene: ENSMUSG00000062646
AA Change: E906G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
G |
A |
16: 56,440,867 (GRCm39) |
V701M |
unknown |
Het |
| Adam2 |
G |
A |
14: 66,267,238 (GRCm39) |
P674S |
probably benign |
Het |
| Adam24 |
T |
A |
8: 41,133,674 (GRCm39) |
Y381N |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,251,491 (GRCm39) |
S6209P |
probably damaging |
Het |
| Aox4 |
A |
T |
1: 58,285,028 (GRCm39) |
K593N |
possibly damaging |
Het |
| Aqp3 |
A |
G |
4: 41,093,640 (GRCm39) |
V258A |
possibly damaging |
Het |
| Atg16l1 |
T |
A |
1: 87,707,906 (GRCm39) |
F390I |
possibly damaging |
Het |
| B4galt6 |
T |
A |
18: 20,825,509 (GRCm39) |
Y239F |
possibly damaging |
Het |
| Cmtr2 |
T |
C |
8: 110,948,977 (GRCm39) |
M429T |
probably benign |
Het |
| Col5a2 |
C |
G |
1: 45,478,029 (GRCm39) |
|
probably null |
Het |
| Dcc |
T |
C |
18: 71,815,249 (GRCm39) |
D375G |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,642,077 (GRCm39) |
Y31H |
|
Het |
| Fam131a |
G |
A |
16: 20,520,243 (GRCm39) |
R232H |
possibly damaging |
Het |
| Fam186a |
A |
G |
15: 99,839,879 (GRCm39) |
Y2122H |
probably damaging |
Het |
| Focad |
A |
T |
4: 88,115,059 (GRCm39) |
I421F |
unknown |
Het |
| Fscb |
T |
G |
12: 64,520,097 (GRCm39) |
E456D |
possibly damaging |
Het |
| Furin |
C |
A |
7: 80,040,846 (GRCm39) |
S664I |
probably benign |
Het |
| Gdf5 |
C |
G |
2: 155,783,915 (GRCm39) |
D346H |
probably damaging |
Het |
| Golga4 |
T |
C |
9: 118,385,893 (GRCm39) |
L1005P |
probably damaging |
Het |
| Ifit1bl1 |
T |
C |
19: 34,571,908 (GRCm39) |
N183S |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,370,984 (GRCm39) |
F1084I |
probably damaging |
Het |
| Katnal1 |
A |
T |
5: 148,831,021 (GRCm39) |
Y184* |
probably null |
Het |
| Lrrc37a |
A |
G |
11: 103,391,633 (GRCm39) |
I1264T |
probably benign |
Het |
| Map3k2 |
T |
A |
18: 32,342,805 (GRCm39) |
M234K |
probably damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,342,352 (GRCm39) |
V1615E |
probably damaging |
Het |
| Mkrn2 |
A |
G |
6: 115,591,534 (GRCm39) |
|
probably null |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nradd |
T |
A |
9: 110,450,751 (GRCm39) |
Q142L |
possibly damaging |
Het |
| Ophn1 |
G |
A |
X: 97,622,145 (GRCm39) |
T668M |
probably benign |
Het |
| Or56b35 |
T |
C |
7: 104,963,781 (GRCm39) |
I190T |
probably benign |
Het |
| Pdzd7 |
A |
G |
19: 45,028,622 (GRCm39) |
F174L |
probably damaging |
Het |
| Pi4k2b |
C |
T |
5: 52,900,879 (GRCm39) |
T99I |
probably benign |
Het |
| Pigv |
A |
T |
4: 133,391,973 (GRCm39) |
V399D |
probably damaging |
Het |
| Pla2g4a |
C |
A |
1: 149,747,207 (GRCm39) |
L326F |
probably damaging |
Het |
| Psmg1 |
T |
C |
16: 95,790,717 (GRCm39) |
I73M |
probably damaging |
Het |
| Rcl1 |
T |
C |
19: 29,093,170 (GRCm39) |
S62P |
probably damaging |
Het |
| Slc23a4 |
T |
A |
6: 34,955,861 (GRCm39) |
I58F |
probably damaging |
Het |
| Slc36a2 |
G |
T |
11: 55,060,837 (GRCm39) |
T191K |
probably benign |
Het |
| Sorbs2 |
T |
G |
8: 46,248,774 (GRCm39) |
V675G |
probably benign |
Het |
| Tbc1d30 |
T |
C |
10: 121,142,128 (GRCm39) |
|
probably null |
Het |
| Tbc1d4 |
A |
G |
14: 101,845,616 (GRCm39) |
V94A |
possibly damaging |
Het |
| Tdrd5 |
T |
C |
1: 156,105,030 (GRCm39) |
Y532C |
probably benign |
Het |
| Tll2 |
T |
A |
19: 41,074,772 (GRCm39) |
I931L |
probably benign |
Het |
| Tlr3 |
T |
C |
8: 45,851,643 (GRCm39) |
N418S |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tshr |
T |
A |
12: 91,474,518 (GRCm39) |
M164K |
possibly damaging |
Het |
| Ttc21b |
A |
G |
2: 66,056,349 (GRCm39) |
V679A |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,730,861 (GRCm39) |
Y4951H |
unknown |
Het |
| Usf1 |
T |
A |
1: 171,243,373 (GRCm39) |
V50D |
possibly damaging |
Het |
| Utp6 |
A |
T |
11: 79,826,851 (GRCm39) |
M575K |
probably benign |
Het |
| Vmn1r197 |
A |
T |
13: 22,512,608 (GRCm39) |
R176S |
possibly damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,261,098 (GRCm39) |
F442I |
probably damaging |
Het |
| Vmn2r94 |
A |
G |
17: 18,497,751 (GRCm39) |
F7S |
possibly damaging |
Het |
| Vps41 |
G |
T |
13: 19,013,401 (GRCm39) |
E340* |
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 |
|
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 |
|
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'- ATAAATGTGCTTCCAGGCTTTC -3'
(R):5'- CTGAAATTGACAGGTCATCAGTAC -3'
Sequencing Primer
(F):5'- GCTTCCAGGCTTTCCTAAGTGAAATG -3'
(R):5'- TTGACAGGTCATCAGTACACTAGAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation