Incidental Mutation 'R7235:Ganc'
| ID |
562743 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ganc
|
| Ensembl Gene |
ENSMUSG00000062646 |
| Gene Name |
glucosidase, alpha; neutral C |
| Synonyms |
5830445O15Rik |
| MMRRC Submission |
045305-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.779)
|
| Stock # |
R7235 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120234377-120291347 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120264198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 384
(F384L)
|
| 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: F384L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116898
Gene: ENSMUSG00000062646
AA Change: F384L
| 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: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (61/62) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
A |
19: 8,989,852 (GRCm39) |
M3712K |
unknown |
Het |
| Bri3bp |
A |
G |
5: 125,518,748 (GRCm39) |
E8G |
unknown |
Het |
| Brip1 |
C |
T |
11: 86,029,701 (GRCm39) |
R611Q |
possibly damaging |
Het |
| Carm1 |
T |
G |
9: 21,498,701 (GRCm39) |
|
probably benign |
Het |
| Catsper4 |
A |
T |
4: 133,939,892 (GRCm39) |
|
probably null |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,821,422 (GRCm39) |
L176H |
probably damaging |
Het |
| Clk4 |
A |
G |
11: 51,167,012 (GRCm39) |
D330G |
probably damaging |
Het |
| Dcdc2c |
A |
G |
12: 28,520,718 (GRCm39) |
S453P |
|
Het |
| Ddx46 |
G |
A |
13: 55,811,053 (GRCm39) |
V550I |
probably benign |
Het |
| Dennd1a |
T |
C |
2: 37,691,073 (GRCm39) |
N676D |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,631,893 (GRCm39) |
N1365S |
probably damaging |
Het |
| Dsg1b |
T |
C |
18: 20,532,480 (GRCm39) |
V508A |
probably benign |
Het |
| Dus2 |
T |
C |
8: 106,742,587 (GRCm39) |
V39A |
possibly damaging |
Het |
| Dync1li1 |
T |
C |
9: 114,544,231 (GRCm39) |
V301A |
possibly damaging |
Het |
| Efcc1 |
T |
G |
6: 87,730,780 (GRCm39) |
S513A |
probably benign |
Het |
| Eif3f |
T |
C |
7: 108,537,295 (GRCm39) |
V167A |
possibly damaging |
Het |
| Ephb2 |
A |
G |
4: 136,421,139 (GRCm39) |
Y404H |
probably damaging |
Het |
| Eqtn |
A |
T |
4: 94,811,936 (GRCm39) |
D152E |
probably damaging |
Het |
| Ercc5 |
A |
C |
1: 44,217,363 (GRCm39) |
K902T |
possibly damaging |
Het |
| Erlec1 |
T |
A |
11: 30,900,751 (GRCm39) |
E139V |
possibly damaging |
Het |
| Evl |
G |
A |
12: 108,614,719 (GRCm39) |
G38R |
probably damaging |
Het |
| Fads2b |
T |
G |
2: 85,330,563 (GRCm39) |
H248P |
probably damaging |
Het |
| Foxd2 |
T |
C |
4: 114,765,468 (GRCm39) |
N184S |
unknown |
Het |
| Frem3 |
T |
C |
8: 81,417,354 (GRCm39) |
Y2020H |
probably benign |
Het |
| Grin2a |
A |
G |
16: 9,397,129 (GRCm39) |
L986P |
probably damaging |
Het |
| Ift140 |
A |
T |
17: 25,239,619 (GRCm39) |
D92V |
possibly damaging |
Het |
| Inpp5b |
A |
G |
4: 124,645,185 (GRCm39) |
K158E |
probably benign |
Het |
| Iscu |
T |
A |
5: 113,914,943 (GRCm39) |
S152T |
probably benign |
Het |
| Isl2 |
C |
T |
9: 55,451,455 (GRCm39) |
T115I |
probably benign |
Het |
| Kalrn |
T |
A |
16: 33,996,131 (GRCm39) |
T1542S |
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,404,285 (GRCm39) |
D454G |
possibly damaging |
Het |
| Kcnj10 |
T |
C |
1: 172,196,993 (GRCm39) |
I169T |
probably damaging |
Het |
| Klk12 |
T |
C |
7: 43,422,723 (GRCm39) |
S217P |
probably damaging |
Het |
| Lancl1 |
T |
C |
1: 67,077,694 (GRCm39) |
N14S |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,453,807 (GRCm39) |
Y899C |
probably damaging |
Het |
| Msantd5f9 |
G |
T |
4: 73,835,808 (GRCm39) |
L219M |
probably benign |
Het |
| Nr1h5 |
C |
T |
3: 102,856,358 (GRCm39) |
|
probably null |
Het |
| Nup98 |
T |
C |
7: 101,774,491 (GRCm39) |
T1515A |
probably damaging |
Het |
| Obscn |
A |
C |
11: 58,971,666 (GRCm39) |
V2183G |
probably damaging |
Het |
| Or52n2 |
C |
T |
7: 104,541,926 (GRCm39) |
R303Q |
probably benign |
Het |
| Osbpl8 |
A |
G |
10: 111,105,288 (GRCm39) |
T248A |
probably benign |
Het |
| Pias3 |
T |
A |
3: 96,611,679 (GRCm39) |
S533T |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,317,573 (GRCm39) |
Y680H |
probably damaging |
Het |
| Pnliprp2 |
A |
G |
19: 58,763,659 (GRCm39) |
N436S |
probably benign |
Het |
| Pold1 |
T |
A |
7: 44,191,244 (GRCm39) |
M196L |
probably benign |
Het |
| Prkdc |
G |
A |
16: 15,532,127 (GRCm39) |
V1464I |
probably benign |
Het |
| Ptk2b |
G |
A |
14: 66,394,536 (GRCm39) |
Q857* |
probably null |
Het |
| Qars1 |
T |
A |
9: 108,387,331 (GRCm39) |
L185Q |
probably damaging |
Het |
| Rabep1 |
A |
G |
11: 70,831,290 (GRCm39) |
N859S |
probably benign |
Het |
| Rnf19b |
A |
G |
4: 128,977,571 (GRCm39) |
H156R |
|
Het |
| Sart3 |
T |
C |
5: 113,891,703 (GRCm39) |
Q423R |
probably damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Slc6a21 |
C |
T |
7: 44,930,182 (GRCm39) |
H194Y |
probably damaging |
Het |
| Tcf4 |
G |
A |
18: 69,790,866 (GRCm39) |
V420I |
probably damaging |
Het |
| Tjp1 |
T |
C |
7: 64,968,321 (GRCm39) |
D701G |
probably benign |
Het |
| Trim42 |
T |
C |
9: 97,251,761 (GRCm39) |
D46G |
probably damaging |
Het |
| Usp19 |
C |
T |
9: 108,372,123 (GRCm39) |
R429* |
probably null |
Het |
| Uxs1 |
T |
C |
1: 43,804,087 (GRCm39) |
N276S |
probably damaging |
Het |
| Vps50 |
A |
G |
6: 3,588,078 (GRCm39) |
I684V |
probably benign |
Het |
| Yars2 |
T |
A |
16: 16,122,556 (GRCm39) |
D307E |
probably benign |
Het |
| Zfp934 |
A |
T |
13: 62,665,964 (GRCm39) |
C258S |
|
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 |
|
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'- CTATAGCCTGCAGAGATTGGGG -3'
(R):5'- TTGAACATGGAAAGGTCTCAGG -3'
Sequencing Primer
(F):5'- GAGGTGGCCACTGATTGAGTAAC -3'
(R):5'- CTGGCTGCTCTTAAAGAAACCTGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation