Incidental Mutation 'R6356:Glud1'
| ID |
513034 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6356 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
34032684-34066990 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34033173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 107
(R107G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022322]
[ENSMUST00000111917]
[ENSMUST00000227375]
[ENSMUST00000228704]
|
| AlphaFold |
P26443 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022322
AA Change: R107G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022322
Gene: ENSMUSG00000021794
AA Change: R107G
| 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 |
probably benign
Transcript: ENSMUST00000111917
|
| SMART Domains |
Protein: ENSMUSP00000107548
Gene: ENSMUSG00000041471
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
177 |
N/A |
INTRINSIC |
|
Pfam:FAM35_C
|
694 |
866 |
4.6e-84 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227375
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228132
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228704
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 91.9%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,161,292 (GRCm39) |
S152T |
probably benign |
Het |
| Aass |
A |
G |
6: 23,093,901 (GRCm39) |
V140A |
probably damaging |
Het |
| Add1 |
A |
G |
5: 34,776,740 (GRCm39) |
N32S |
probably null |
Het |
| Agap2 |
T |
C |
10: 126,918,865 (GRCm39) |
S414P |
unknown |
Het |
| Arhgef38 |
A |
G |
3: 132,846,638 (GRCm39) |
F376L |
probably benign |
Het |
| Cd22 |
A |
T |
7: 30,577,127 (GRCm39) |
I60N |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,274,626 (GRCm39) |
D488V |
probably damaging |
Het |
| Cfap251 |
G |
A |
5: 123,392,729 (GRCm39) |
|
probably benign |
Het |
| Cox16 |
T |
G |
12: 81,519,115 (GRCm39) |
D148A |
probably damaging |
Het |
| Dclre1b |
G |
A |
3: 103,715,471 (GRCm39) |
T9I |
probably damaging |
Het |
| Dennd4c |
T |
C |
4: 86,743,686 (GRCm39) |
V1176A |
probably benign |
Het |
| Echdc1 |
A |
C |
10: 29,220,522 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
A |
G |
11: 104,784,533 (GRCm39) |
K2772E |
probably benign |
Het |
| Efnb3 |
G |
A |
11: 69,446,966 (GRCm39) |
A248V |
probably benign |
Het |
| Gtf2h4 |
A |
G |
17: 35,980,647 (GRCm39) |
S279P |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,791,402 (GRCm39) |
C2579R |
probably damaging |
Het |
| Igkv15-103 |
A |
G |
6: 68,414,441 (GRCm39) |
|
probably benign |
Het |
| Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
| Krtap5-2 |
T |
C |
7: 141,729,119 (GRCm39) |
|
probably benign |
Het |
| Lcn11 |
G |
T |
2: 25,668,132 (GRCm39) |
G97* |
probably null |
Het |
| Lrrtm3 |
G |
A |
10: 63,765,943 (GRCm39) |
T548M |
probably benign |
Het |
| Map3k2 |
A |
T |
18: 32,345,023 (GRCm39) |
T283S |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,872,493 (GRCm39) |
K2292E |
possibly damaging |
Het |
| Med23 |
G |
T |
10: 24,764,311 (GRCm39) |
C98F |
probably damaging |
Het |
| Morc1 |
T |
A |
16: 48,257,652 (GRCm39) |
F26Y |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,366,416 (GRCm39) |
M2160K |
probably benign |
Het |
| Myocd |
T |
C |
11: 65,109,396 (GRCm39) |
|
probably null |
Het |
| Nup160 |
T |
A |
2: 90,542,279 (GRCm39) |
|
probably null |
Het |
| Obi1 |
A |
G |
14: 104,716,313 (GRCm39) |
S687P |
probably damaging |
Het |
| Olr1 |
A |
T |
6: 129,470,522 (GRCm39) |
L215Q |
probably benign |
Het |
| Or5ak23 |
T |
A |
2: 85,245,031 (GRCm39) |
Q64L |
probably damaging |
Het |
| Or6c216 |
T |
A |
10: 129,678,477 (GRCm39) |
S145C |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,947,440 (GRCm39) |
K1414R |
possibly damaging |
Het |
| Ppfibp2 |
T |
C |
7: 107,280,976 (GRCm39) |
V96A |
probably benign |
Het |
| Prim1 |
T |
A |
10: 127,859,704 (GRCm39) |
Y299N |
probably damaging |
Het |
| Rsf1 |
T |
C |
7: 97,311,141 (GRCm39) |
S624P |
probably benign |
Het |
| Samd4b |
A |
T |
7: 28,101,018 (GRCm39) |
I687N |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 109,971,830 (GRCm39) |
F801L |
probably damaging |
Het |
| St6gal2 |
T |
C |
17: 55,789,014 (GRCm39) |
I16T |
probably damaging |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Trim8 |
T |
G |
19: 46,503,797 (GRCm39) |
S450A |
probably benign |
Het |
| Trp53bp2 |
A |
G |
1: 182,276,562 (GRCm39) |
T848A |
probably benign |
Het |
| Vmn2r24 |
A |
G |
6: 123,783,368 (GRCm39) |
S523G |
possibly damaging |
Het |
| Vmn2r52 |
T |
A |
7: 9,902,926 (GRCm39) |
M501L |
probably benign |
Het |
| Vmn2r68 |
C |
T |
7: 84,883,048 (GRCm39) |
V235M |
possibly damaging |
Het |
| Zfhx3 |
G |
A |
8: 109,673,251 (GRCm39) |
V1434M |
probably damaging |
Het |
| Zmym5 |
A |
T |
14: 57,031,622 (GRCm39) |
N495K |
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 |
|
|
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 |
|
|
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'- AGCTCCGGTCTTTACAGCTC -3'
(R):5'- TATCCTCTAAGGCTGCCACACC -3'
Sequencing Primer
(F):5'- CCATGTACCGCCGTCTG -3'
(R):5'- CTGCAGAACTGGGCTGG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation