Incidental Mutation 'R6142:Ganc'
ID |
488611 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ganc
|
Ensembl Gene |
ENSMUSG00000062646 |
Gene Name |
glucosidase, alpha; neutral C |
Synonyms |
5830445O15Rik |
MMRRC Submission |
044289-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.752)
|
Stock # |
R6142 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120234377-120291347 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 120261218 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116898
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000135074]
[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 null
Transcript: ENSMUST00000135074
|
SMART Domains |
Protein: ENSMUSP00000116898 Gene: ENSMUSG00000062646
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 |
probably null
Transcript: ENSMUST00000135074
|
SMART Domains |
Protein: ENSMUSP00000116898 Gene: ENSMUSG00000062646
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
|
Meta Mutation Damage Score |
0.9488 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.2%
|
Validation Efficiency |
100% (48/48) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy6 |
T |
C |
15: 98,496,303 (GRCm39) |
M579V |
probably benign |
Het |
Agtr1b |
T |
C |
3: 20,370,558 (GRCm39) |
D16G |
probably benign |
Het |
Akap12 |
C |
A |
10: 4,263,740 (GRCm39) |
|
probably null |
Het |
Alpk2 |
T |
C |
18: 65,438,456 (GRCm39) |
E979G |
possibly damaging |
Het |
Arfgap3 |
T |
C |
15: 83,234,328 (GRCm39) |
D8G |
probably damaging |
Het |
AW551984 |
G |
T |
9: 39,508,410 (GRCm39) |
L369I |
probably benign |
Het |
Bmp8b |
A |
T |
4: 123,009,043 (GRCm39) |
H207L |
probably benign |
Het |
Cc2d2a |
G |
T |
5: 43,860,540 (GRCm39) |
V490F |
probably damaging |
Het |
Cnot6l |
C |
T |
5: 96,230,837 (GRCm39) |
V377I |
probably benign |
Het |
Col25a1 |
T |
A |
3: 130,376,978 (GRCm39) |
|
probably benign |
Het |
Crocc2 |
C |
G |
1: 93,118,201 (GRCm39) |
Q375E |
possibly damaging |
Het |
Gm28168 |
C |
A |
1: 117,875,678 (GRCm39) |
D102E |
probably benign |
Het |
Gm8212 |
T |
C |
14: 44,438,684 (GRCm39) |
|
probably null |
Het |
Gria2 |
T |
C |
3: 80,709,024 (GRCm39) |
T53A |
probably benign |
Het |
Hipk4 |
G |
A |
7: 27,228,590 (GRCm39) |
V347M |
probably damaging |
Het |
Hmgxb3 |
T |
C |
18: 61,269,309 (GRCm39) |
E991G |
probably benign |
Het |
Hyal1 |
G |
A |
9: 107,456,573 (GRCm39) |
R420H |
probably benign |
Het |
Il5 |
G |
A |
11: 53,611,805 (GRCm39) |
|
probably null |
Het |
Kcnh7 |
T |
C |
2: 62,569,704 (GRCm39) |
I731V |
possibly damaging |
Het |
Lamb2 |
A |
T |
9: 108,362,817 (GRCm39) |
K759* |
probably null |
Het |
Lnpep |
A |
G |
17: 17,786,943 (GRCm39) |
|
probably null |
Het |
Lrch1 |
T |
C |
14: 75,184,940 (GRCm39) |
E54G |
probably damaging |
Het |
Msl3l2 |
A |
G |
10: 55,991,461 (GRCm39) |
D62G |
possibly damaging |
Het |
Mslnl |
T |
C |
17: 25,963,531 (GRCm39) |
L339P |
probably damaging |
Het |
Nfe2l2 |
T |
C |
2: 75,509,761 (GRCm39) |
I20V |
probably damaging |
Het |
Pgm5 |
A |
C |
19: 24,801,772 (GRCm39) |
I152S |
probably damaging |
Het |
Plcg2 |
C |
A |
8: 118,312,010 (GRCm39) |
T434K |
probably benign |
Het |
Prrc2c |
T |
C |
1: 162,537,956 (GRCm39) |
E558G |
unknown |
Het |
Ranbp3 |
T |
C |
17: 56,993,018 (GRCm39) |
V12A |
probably benign |
Het |
Rgsl1 |
A |
G |
1: 153,687,984 (GRCm39) |
V635A |
probably benign |
Het |
Rpap2 |
T |
C |
5: 107,746,164 (GRCm39) |
V14A |
probably benign |
Het |
Rxrg |
G |
T |
1: 167,460,191 (GRCm39) |
A341S |
possibly damaging |
Het |
Sbf2 |
A |
G |
7: 109,948,182 (GRCm39) |
S1177P |
probably damaging |
Het |
Sema6a |
T |
C |
18: 47,414,266 (GRCm39) |
T498A |
probably benign |
Het |
Slc13a4 |
G |
A |
6: 35,278,718 (GRCm39) |
A57V |
probably damaging |
Het |
Slc6a3 |
A |
T |
13: 73,692,902 (GRCm39) |
D174V |
probably benign |
Het |
Spart |
T |
G |
3: 55,024,669 (GRCm39) |
V88G |
probably damaging |
Het |
Tanc1 |
A |
T |
2: 59,663,566 (GRCm39) |
R1108* |
probably null |
Het |
Tas2r140 |
C |
T |
6: 133,032,698 (GRCm39) |
G20E |
probably damaging |
Het |
Tdrd6 |
A |
G |
17: 43,940,373 (GRCm39) |
V225A |
probably benign |
Het |
Tmem168 |
C |
A |
6: 13,591,368 (GRCm39) |
A99S |
probably benign |
Het |
Tnk2 |
T |
A |
16: 32,488,917 (GRCm39) |
D252E |
probably damaging |
Het |
Tpsg1 |
A |
T |
17: 25,591,460 (GRCm39) |
H20L |
probably benign |
Het |
Tram1l1 |
T |
C |
3: 124,115,092 (GRCm39) |
F84S |
probably damaging |
Het |
Vmn2r12 |
T |
A |
5: 109,240,763 (GRCm39) |
I117L |
probably benign |
Het |
Zfp148 |
T |
C |
16: 33,315,829 (GRCm39) |
L219S |
possibly damaging |
Het |
Zfp40 |
C |
A |
17: 23,395,311 (GRCm39) |
E425D |
probably benign |
Het |
Zfp773 |
T |
C |
7: 7,135,481 (GRCm39) |
T372A |
probably benign |
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 |
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'- TTCAGAGATGGAGATGCATACC -3'
(R):5'- CCATCTGGGTCAGTGTGTAC -3'
Sequencing Primer
(F):5'- GCATACCGTCTTTATAATCTGGACG -3'
(R):5'- TCTGAGAAATATCACTGCAACCC -3'
|
Posted On |
2017-10-10 |