Incidental Mutation 'R6443:Glud1'
| ID |
519106 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glud1
|
| Ensembl Gene |
ENSMUSG00000021794 |
| Gene Name |
glutamate dehydrogenase 1 |
| Synonyms |
Glud, Gdh-X |
| MMRRC Submission |
044581-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
R6443 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
34032684-34066990 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34061884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 468
(M468T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022322]
|
| AlphaFold |
P26443 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022322
AA Change: M468T
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000022322
Gene: ENSMUSG00000021794
AA Change: M468T
| 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: ENSMUST00000161593
|
| 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 |
|
| Meta Mutation Damage Score |
0.1750 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 91.9%
|
| Validation Efficiency |
97% (37/38) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
A |
G |
9: 4,309,357 (GRCm39) |
L27P |
probably damaging |
Het |
| Actr6 |
T |
C |
10: 89,550,733 (GRCm39) |
N354D |
probably damaging |
Het |
| Apbb1 |
T |
A |
7: 105,222,970 (GRCm39) |
N214Y |
probably damaging |
Het |
| Bcar1 |
A |
T |
8: 112,441,970 (GRCm39) |
V290E |
probably damaging |
Het |
| Ces1f |
T |
A |
8: 94,001,993 (GRCm39) |
Q45L |
probably benign |
Het |
| Ctss |
A |
C |
3: 95,454,114 (GRCm39) |
K221T |
probably benign |
Het |
| Dclre1b |
T |
A |
3: 103,710,504 (GRCm39) |
N469I |
possibly damaging |
Het |
| Dnah12 |
C |
A |
14: 26,600,008 (GRCm39) |
Q3683K |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,990,859 (GRCm39) |
I3301V |
probably benign |
Het |
| Ephb4 |
G |
A |
5: 137,358,711 (GRCm39) |
G298E |
probably damaging |
Het |
| Eya3 |
T |
C |
4: 132,439,238 (GRCm39) |
F455L |
probably damaging |
Het |
| Fkbp5 |
G |
T |
17: 28,648,253 (GRCm39) |
A112D |
probably damaging |
Het |
| Gm5114 |
C |
A |
7: 39,057,141 (GRCm39) |
R826L |
possibly damaging |
Het |
| Gramd2b |
G |
A |
18: 56,618,457 (GRCm39) |
V222I |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Lpin2 |
T |
C |
17: 71,548,663 (GRCm39) |
S576P |
probably benign |
Het |
| Lrrc1 |
A |
G |
9: 77,341,314 (GRCm39) |
F415L |
probably damaging |
Het |
| Mtmr3 |
A |
T |
11: 4,437,358 (GRCm39) |
I1032K |
probably damaging |
Het |
| Nr5a1 |
G |
A |
2: 38,600,442 (GRCm39) |
T75M |
probably damaging |
Het |
| Nwd1 |
G |
A |
8: 73,388,994 (GRCm39) |
V141I |
possibly damaging |
Het |
| Or1e1b-ps1 |
A |
T |
11: 73,845,918 (GRCm39) |
Q134L |
probably benign |
Het |
| Or5ar1 |
T |
G |
2: 85,671,979 (GRCm39) |
D52A |
probably damaging |
Het |
| Or6c214 |
C |
A |
10: 129,591,277 (GRCm39) |
G14V |
probably damaging |
Het |
| Pla1a |
T |
C |
16: 38,229,949 (GRCm39) |
|
probably null |
Het |
| Ppp1r36 |
A |
G |
12: 76,464,413 (GRCm39) |
S4G |
probably benign |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Ryr1 |
A |
T |
7: 28,776,503 (GRCm39) |
M2204K |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,506,278 (GRCm39) |
N3428S |
possibly damaging |
Het |
| Slc6a4 |
A |
G |
11: 76,914,027 (GRCm39) |
K526E |
probably benign |
Het |
| Slc9a8 |
G |
A |
2: 167,276,741 (GRCm39) |
R78H |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,089,429 (GRCm39) |
D611G |
possibly damaging |
Het |
| Sstr2 |
G |
A |
11: 113,516,080 (GRCm39) |
|
probably null |
Het |
| Tcf7 |
G |
T |
11: 52,144,765 (GRCm39) |
T286N |
probably benign |
Het |
| Txndc5 |
A |
G |
13: 38,712,179 (GRCm39) |
M69T |
possibly damaging |
Het |
| Usp48 |
T |
A |
4: 137,341,074 (GRCm39) |
V358E |
probably damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,374 (GRCm39) |
I745K |
possibly damaging |
Het |
| Zfp354b |
A |
G |
11: 50,813,581 (GRCm39) |
I448T |
possibly damaging |
Het |
| Zfp523 |
A |
T |
17: 28,420,381 (GRCm39) |
T189S |
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 |
|
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 |
|
|
R6356:Glud1
|
UTSW |
14 |
34,033,173 (GRCm39) |
missense |
probably benign |
|
|
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'- AGGTTCTCCTTGCTGGGTAC -3'
(R):5'- AAATGAATGGTGAGGTGTTGTCAC -3'
Sequencing Primer
(F):5'- GCTGGGTACTTAATGATTAACCCTTG -3'
(R):5'- GACAGCATTATGGTTAACATCCTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation