Incidental Mutation 'IGL01896:Glud1'
| ID |
179408 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Glud1
|
| Ensembl Gene |
ENSMUSG00000021794 |
| Gene Name |
glutamate dehydrogenase 1 |
| Synonyms |
Glud, Gdh-X |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
IGL01896
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
34032684-34066990 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34041862 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 157
(S157G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022322]
|
| AlphaFold |
P26443 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022322
AA Change: S157G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000022322
Gene: ENSMUSG00000021794
AA Change: S157G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
33 |
N/A |
INTRINSIC |
|
Pfam:ELFV_dehydrog_N
|
112 |
242 |
1.3e-63 |
PFAM |
|
ELFV_dehydrog
|
265 |
554 |
1.33e-88 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretion. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results in multiple transcript variants. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Related pseudogenes have been identified on chromosomes 10, 18 and X. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a conditionally allele activated in beta cells exhibit reduced glucose-stimulated insulin secretion and disorganization of pancreatic islets. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
T |
A |
10: 29,101,154 (GRCm39) |
F509Y |
possibly damaging |
Het |
| Acot11 |
T |
A |
4: 106,628,564 (GRCm39) |
I75F |
probably damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,113,578 (GRCm39) |
N427Y |
probably damaging |
Het |
| Cd19 |
T |
C |
7: 126,013,522 (GRCm39) |
D89G |
possibly damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,721,438 (GRCm39) |
T378S |
possibly damaging |
Het |
| Cltc |
A |
T |
11: 86,615,959 (GRCm39) |
C436S |
probably damaging |
Het |
| Def8 |
G |
A |
8: 124,186,634 (GRCm39) |
V429M |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 66,021,492 (GRCm39) |
D311E |
possibly damaging |
Het |
| Dpy19l4 |
T |
C |
4: 11,267,752 (GRCm39) |
K396R |
possibly damaging |
Het |
| Eif4b |
T |
C |
15: 102,003,721 (GRCm39) |
S597P |
probably benign |
Het |
| Ezh1 |
A |
T |
11: 101,104,581 (GRCm39) |
N155K |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5600 |
T |
C |
7: 113,307,221 (GRCm39) |
|
noncoding transcript |
Het |
| Hnf4g |
T |
A |
3: 3,716,470 (GRCm39) |
V298E |
probably damaging |
Het |
| Hspd1 |
C |
T |
1: 55,118,268 (GRCm39) |
R446Q |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,810,162 (GRCm39) |
I611V |
probably benign |
Het |
| Map4k3 |
T |
C |
17: 80,921,360 (GRCm39) |
E524G |
probably benign |
Het |
| Mepe |
A |
G |
5: 104,486,135 (GRCm39) |
D425G |
possibly damaging |
Het |
| Myo1a |
G |
T |
10: 127,555,773 (GRCm39) |
V921L |
probably benign |
Het |
| Plxdc1 |
A |
T |
11: 97,815,408 (GRCm39) |
M470K |
probably damaging |
Het |
| Prim1 |
A |
G |
10: 127,858,758 (GRCm39) |
Y222C |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,649,389 (GRCm39) |
N264S |
possibly damaging |
Het |
| Qrsl1 |
T |
C |
10: 43,752,500 (GRCm39) |
D441G |
probably benign |
Het |
| Samd9l |
G |
T |
6: 3,375,120 (GRCm39) |
Q714K |
probably benign |
Het |
| Scrib |
T |
C |
15: 75,937,967 (GRCm39) |
E293G |
possibly damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,029,380 (GRCm39) |
N255K |
probably benign |
Het |
| Slc6a6 |
T |
C |
6: 91,703,050 (GRCm39) |
I141T |
probably damaging |
Het |
| Slc9a1 |
T |
C |
4: 133,145,370 (GRCm39) |
L485P |
probably damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,522 (GRCm39) |
Y706N |
probably damaging |
Het |
| Tlr5 |
T |
C |
1: 182,802,444 (GRCm39) |
F583L |
possibly damaging |
Het |
| Tmprss15 |
A |
G |
16: 78,887,678 (GRCm39) |
V43A |
probably benign |
Het |
| Ttc24 |
T |
C |
3: 87,977,720 (GRCm39) |
|
probably null |
Het |
| Ttc7 |
A |
G |
17: 87,666,552 (GRCm39) |
T606A |
probably damaging |
Het |
| Ubap2 |
G |
T |
4: 41,202,362 (GRCm39) |
P689T |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wfdc8 |
A |
T |
2: 164,447,700 (GRCm39) |
M120K |
probably damaging |
Het |
|
| Other mutations in Glud1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Glud1
|
APN |
14 |
34,058,087 (GRCm39) |
missense |
probably benign |
|
|
IGL00973:Glud1
|
APN |
14 |
34,041,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02442:Glud1
|
APN |
14 |
34,057,395 (GRCm39) |
nonsense |
probably null |
|
|
IGL03242:Glud1
|
APN |
14 |
34,056,237 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4283001:Glud1
|
UTSW |
14 |
34,058,129 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0009:Glud1
|
UTSW |
14 |
34,056,225 (GRCm39) |
missense |
probably benign |
|
|
R0009:Glud1
|
UTSW |
14 |
34,056,225 (GRCm39) |
missense |
probably benign |
|
|
R0845:Glud1
|
UTSW |
14 |
34,051,351 (GRCm39) |
unclassified |
probably benign |
|
|
R1765:Glud1
|
UTSW |
14 |
34,047,541 (GRCm39) |
splice site |
probably benign |
|
|
R3870:Glud1
|
UTSW |
14 |
34,047,537 (GRCm39) |
splice site |
probably benign |
|
|
R4645:Glud1
|
UTSW |
14 |
34,033,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4773:Glud1
|
UTSW |
14 |
34,043,782 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4883:Glud1
|
UTSW |
14 |
34,057,347 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5912:Glud1
|
UTSW |
14 |
34,033,300 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6356:Glud1
|
UTSW |
14 |
34,033,173 (GRCm39) |
missense |
probably benign |
|
|
R6443:Glud1
|
UTSW |
14 |
34,061,884 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7658:Glud1
|
UTSW |
14 |
34,033,114 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7806:Glud1
|
UTSW |
14 |
34,065,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7817:Glud1
|
UTSW |
14 |
34,051,244 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7862:Glud1
|
UTSW |
14 |
34,047,479 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8178:Glud1
|
UTSW |
14 |
34,065,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8398:Glud1
|
UTSW |
14 |
34,033,228 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9130:Glud1
|
UTSW |
14 |
34,057,349 (GRCm39) |
missense |
|
|
|
R9523:Glud1
|
UTSW |
14 |
34,061,931 (GRCm39) |
missense |
probably benign |
|
|
R9765:Glud1
|
UTSW |
14 |
34,060,795 (GRCm39) |
nonsense |
probably null |
|
|
X0013:Glud1
|
UTSW |
14 |
34,060,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Glud1
|
UTSW |
14 |
34,032,826 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation