Incidental Mutation 'R0845:Glud1'
| ID |
77338 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glud1
|
| Ensembl Gene |
ENSMUSG00000021794 |
| Gene Name |
glutamate dehydrogenase 1 |
| Synonyms |
Glud, Gdh-X |
| MMRRC Submission |
039024-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
R0845 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
34032684-34066990 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 34051351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022322]
|
| AlphaFold |
P26443 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022322
|
| SMART Domains |
Protein: ENSMUSP00000022322
Gene: ENSMUSG00000021794
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159784
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162912
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163955
|
| SMART Domains |
Protein: ENSMUSP00000130934
Gene: ENSMUSG00000021794
| Domain | Start | End | E-Value | Type |
|---|
|
ELFV_dehydrog
|
2 |
139 |
5.91e-31 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 93.2%
|
| Validation Efficiency |
96% (45/47) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
G |
T |
7: 28,612,855 (GRCm39) |
A116E |
probably damaging |
Het |
| Adamtsl3 |
A |
G |
7: 82,225,204 (GRCm39) |
I338V |
probably damaging |
Het |
| Akap13 |
T |
G |
7: 75,375,128 (GRCm39) |
V1920G |
probably damaging |
Het |
| Atp6v0d2 |
C |
T |
4: 19,880,055 (GRCm39) |
V281I |
probably benign |
Het |
| AW209491 |
T |
G |
13: 14,811,607 (GRCm39) |
S153R |
probably damaging |
Het |
| Brd7 |
A |
T |
8: 89,069,395 (GRCm39) |
Y433* |
probably null |
Het |
| Bub1b |
A |
G |
2: 118,440,457 (GRCm39) |
H187R |
probably damaging |
Het |
| Clstn2 |
T |
A |
9: 97,452,681 (GRCm39) |
Q242L |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Comt |
T |
C |
16: 18,226,711 (GRCm39) |
Y225C |
probably damaging |
Het |
| Ctbs |
T |
A |
3: 146,160,862 (GRCm39) |
L143Q |
probably damaging |
Het |
| Ctsw |
T |
C |
19: 5,515,489 (GRCm39) |
|
probably benign |
Het |
| Dhx16 |
T |
C |
17: 36,194,194 (GRCm39) |
I435T |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,026,469 (GRCm39) |
F1859S |
probably damaging |
Het |
| Gm8220 |
A |
G |
14: 44,524,248 (GRCm39) |
H71R |
probably damaging |
Het |
| Gnb1l |
A |
G |
16: 18,371,223 (GRCm39) |
E238G |
probably benign |
Het |
| H2-T23 |
T |
C |
17: 36,341,475 (GRCm39) |
H332R |
probably benign |
Het |
| Itga5 |
T |
A |
15: 103,259,196 (GRCm39) |
T744S |
probably benign |
Het |
| Larp1 |
A |
G |
11: 57,938,576 (GRCm39) |
E453G |
probably benign |
Het |
| Lrrk2 |
C |
A |
15: 91,640,165 (GRCm39) |
P1570Q |
probably benign |
Het |
| Lrsam1 |
C |
T |
2: 32,843,455 (GRCm39) |
R150Q |
possibly damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Msln |
T |
C |
17: 25,969,770 (GRCm39) |
Y320C |
probably damaging |
Het |
| Mtbp |
T |
C |
15: 55,426,486 (GRCm39) |
|
probably null |
Het |
| Muc5b |
A |
G |
7: 141,404,183 (GRCm39) |
|
probably null |
Het |
| Mup21 |
A |
G |
4: 62,068,547 (GRCm39) |
S40P |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,177,090 (GRCm39) |
V414A |
probably damaging |
Het |
| P2rx5 |
T |
C |
11: 73,056,400 (GRCm39) |
I108T |
probably damaging |
Het |
| Paqr9 |
T |
C |
9: 95,442,793 (GRCm39) |
L261P |
probably damaging |
Het |
| Pde5a |
A |
G |
3: 122,522,980 (GRCm39) |
D29G |
probably benign |
Het |
| Phf11d |
A |
T |
14: 59,590,793 (GRCm39) |
M188K |
possibly damaging |
Het |
| Pih1d1 |
A |
G |
7: 44,809,106 (GRCm39) |
D230G |
probably benign |
Het |
| Pik3r1 |
G |
T |
13: 101,822,772 (GRCm39) |
D643E |
probably benign |
Het |
| Rnf207 |
A |
G |
4: 152,396,521 (GRCm39) |
|
probably benign |
Het |
| Septin9 |
T |
C |
11: 117,247,151 (GRCm39) |
|
probably benign |
Het |
| Serinc1 |
A |
T |
10: 57,401,479 (GRCm39) |
S105T |
probably benign |
Het |
| Slc8a1 |
A |
G |
17: 81,745,177 (GRCm39) |
S676P |
probably benign |
Het |
| Srrm4 |
C |
T |
5: 116,582,944 (GRCm39) |
|
probably null |
Het |
| Tcn2 |
T |
A |
11: 3,869,349 (GRCm39) |
D391V |
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,855,303 (GRCm39) |
T808A |
probably damaging |
Het |
| Ubqln3 |
G |
T |
7: 103,791,275 (GRCm39) |
Q272K |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,139,703 (GRCm39) |
|
probably benign |
Het |
| Xpo6 |
G |
A |
7: 125,728,715 (GRCm39) |
|
probably benign |
Het |
| Zfp667 |
A |
T |
7: 6,309,091 (GRCm39) |
K586N |
possibly 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 |
|
IGL01896:Glud1
|
APN |
14 |
34,041,862 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCATCATACCCTGAAGGCCAAG -3'
(R):5'- GCTCACCATGCTTACCGTCAGAAC -3'
Sequencing Primer
(F):5'- CTAGCGACAGTGACATTGTTC -3'
(R):5'- TGCTTACCGTCAGAACAGAGG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation