Incidental Mutation 'R4645:Glud1'
| ID |
350185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glud1
|
| Ensembl Gene |
ENSMUSG00000021794 |
| Gene Name |
glutamate dehydrogenase 1 |
| Synonyms |
Glud, Gdh-X |
| MMRRC Submission |
041906-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
R4645 (G1)
|
| Quality Score |
107 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
34032684-34066990 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34033063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 70
(V70A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022322]
[ENSMUST00000111917]
[ENSMUST00000227375]
[ENSMUST00000228704]
|
| AlphaFold |
P26443 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022322
AA Change: V70A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022322
Gene: ENSMUSG00000021794
AA Change: V70A
| 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
|
| Meta Mutation Damage Score |
0.8885 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (53/54) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,635,700 (GRCm39) |
E101G |
probably damaging |
Het |
| Adgrf5 |
A |
G |
17: 43,748,416 (GRCm39) |
E29G |
probably damaging |
Het |
| Agfg2 |
T |
A |
5: 137,682,854 (GRCm39) |
|
probably benign |
Het |
| Ap4b1 |
A |
G |
3: 103,728,765 (GRCm39) |
S468G |
probably benign |
Het |
| AY702103 |
G |
T |
17: 50,546,941 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc14 |
T |
C |
16: 34,542,110 (GRCm39) |
L536S |
probably damaging |
Het |
| Ccr9 |
G |
T |
9: 123,608,658 (GRCm39) |
M101I |
probably benign |
Het |
| Celsr1 |
A |
T |
15: 85,800,957 (GRCm39) |
V2496E |
probably benign |
Het |
| Celsr2 |
C |
A |
3: 108,303,285 (GRCm39) |
G2486V |
probably damaging |
Het |
| Cntnap3 |
A |
G |
13: 64,926,602 (GRCm39) |
|
probably null |
Het |
| Erlin1 |
T |
C |
19: 44,057,759 (GRCm39) |
Y22C |
probably damaging |
Het |
| Fam135b |
T |
C |
15: 71,334,189 (GRCm39) |
T1002A |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Hdlbp |
A |
G |
1: 93,349,842 (GRCm39) |
|
probably benign |
Het |
| Immt |
T |
C |
6: 71,833,923 (GRCm39) |
L184P |
probably damaging |
Het |
| Iqsec1 |
T |
G |
6: 90,644,995 (GRCm39) |
K983T |
probably damaging |
Het |
| Klhl6 |
A |
T |
16: 19,765,897 (GRCm39) |
N568K |
probably damaging |
Het |
| Lbhd1 |
T |
G |
19: 8,861,452 (GRCm39) |
|
probably benign |
Het |
| Lrit2 |
C |
T |
14: 36,794,432 (GRCm39) |
R499C |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,461,213 (GRCm39) |
D748G |
probably damaging |
Het |
| Lrriq4 |
A |
G |
3: 30,704,892 (GRCm39) |
K292E |
probably benign |
Het |
| Ly96 |
G |
T |
1: 16,761,940 (GRCm39) |
E49* |
probably null |
Het |
| Lztr1 |
C |
T |
16: 17,341,955 (GRCm39) |
|
probably benign |
Het |
| Mmp12 |
A |
G |
9: 7,347,515 (GRCm39) |
M31V |
probably benign |
Het |
| Mok |
A |
T |
12: 110,774,873 (GRCm39) |
|
probably benign |
Het |
| Mpi |
T |
C |
9: 57,458,040 (GRCm39) |
H54R |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Or4c101 |
T |
C |
2: 88,390,722 (GRCm39) |
I292T |
probably damaging |
Het |
| Pomt1 |
G |
T |
2: 32,132,888 (GRCm39) |
|
probably benign |
Het |
| Ptpn20 |
G |
A |
14: 33,353,169 (GRCm39) |
V303I |
probably benign |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| Shank2 |
A |
G |
7: 143,964,159 (GRCm39) |
K799R |
possibly damaging |
Het |
| Sim1 |
A |
T |
10: 50,860,093 (GRCm39) |
T652S |
probably benign |
Het |
| Slc8a2 |
C |
T |
7: 15,868,164 (GRCm39) |
T132I |
probably damaging |
Het |
| Spaca6 |
A |
T |
17: 18,056,307 (GRCm39) |
|
probably benign |
Het |
| Sympk |
G |
T |
7: 18,777,385 (GRCm39) |
R545L |
possibly damaging |
Het |
| Tenm4 |
G |
T |
7: 96,544,949 (GRCm39) |
G2322W |
probably damaging |
Het |
| Thap1 |
A |
G |
8: 26,652,597 (GRCm39) |
T135A |
probably damaging |
Het |
| Traf3 |
T |
C |
12: 111,228,400 (GRCm39) |
V537A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,578,680 (GRCm39) |
D24071G |
probably damaging |
Het |
| Tysnd1 |
G |
T |
10: 61,531,962 (GRCm39) |
V205L |
probably benign |
Het |
| Unc79 |
T |
C |
12: 103,079,081 (GRCm39) |
S1749P |
probably benign |
Het |
| Vmn2r50 |
T |
A |
7: 9,771,162 (GRCm39) |
*846C |
probably null |
Het |
| Vmn2r74 |
C |
T |
7: 85,606,317 (GRCm39) |
S343N |
probably benign |
Het |
| Zfyve28 |
T |
G |
5: 34,379,787 (GRCm39) |
|
probably benign |
Het |
| Zmym2 |
T |
C |
14: 57,165,764 (GRCm39) |
S696P |
probably damaging |
Het |
| Zscan4e |
T |
C |
7: 11,041,002 (GRCm39) |
Y290C |
possibly damaging |
Het |
| Zswim2 |
G |
T |
2: 83,745,891 (GRCm39) |
H516N |
probably benign |
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 |
|
|
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'- AGCTCCGGTCTTTACAGCTC -3'
(R):5'- TCAGTATCCTCTAAGGCTGCCAC -3'
Sequencing Primer
(F):5'- CCATGTACCGCCGTCTG -3'
(R):5'- TTCGATGACCTCCCAGGAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation