Incidental Mutation 'IGL01794:Gad1'
ID |
155290 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gad1
|
Ensembl Gene |
ENSMUSG00000070880 |
Gene Name |
glutamate decarboxylase 1 |
Synonyms |
Gad-1, GAD67, Z49976, GAD44, GAD25, EP10 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01794
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
70391644-70432358 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 70427512 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 473
(V473L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092539
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094934]
|
AlphaFold |
P48318 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094934
AA Change: V473L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000092539 Gene: ENSMUSG00000070880 AA Change: V473L
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Pyridoxal_deC
|
143 |
517 |
7e-154 |
PFAM |
Pfam:Beta_elim_lyase
|
231 |
375 |
3.2e-6 |
PFAM |
Pfam:Aminotran_5
|
273 |
380 |
2.4e-6 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140478
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: The protein encoded by this gene is an enzyme that catalyzes the production of gamma-aminobutyric acid from L-glutamic acid. Alternative splicing of this gene results in two products, the predominant 67 kDa isoform and a smaller 25 kDa isoform. The smaller isoform is not thought to retain catalytic activity. [provided by RefSeq, Aug 2015] PHENOTYPE: Homozygotes for targeted null mutations die at birth with cleft palate and apnea and exhibit reduced levels of glutamic acid decarboxylase and gamma-aminobutyric acid in the cerebral cortex. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
C |
T |
6: 91,895,093 (GRCm39) |
R263* |
probably null |
Het |
Appl2 |
A |
G |
10: 83,450,158 (GRCm39) |
V238A |
probably benign |
Het |
Bcl2l11 |
T |
A |
2: 127,970,568 (GRCm39) |
S6T |
probably damaging |
Het |
Bptf |
A |
G |
11: 106,944,047 (GRCm39) |
|
probably null |
Het |
Catsper3 |
T |
C |
13: 55,946,719 (GRCm39) |
S139P |
possibly damaging |
Het |
Cdh3 |
A |
G |
8: 107,263,758 (GRCm39) |
N192S |
possibly damaging |
Het |
Dsc1 |
A |
T |
18: 20,243,240 (GRCm39) |
I71N |
probably damaging |
Het |
Fbxw2 |
A |
G |
2: 34,701,131 (GRCm39) |
|
probably benign |
Het |
Golm2 |
T |
A |
2: 121,742,407 (GRCm39) |
N206K |
probably benign |
Het |
Gtpbp1 |
C |
T |
15: 79,600,447 (GRCm39) |
T460I |
probably damaging |
Het |
Krt16 |
G |
A |
11: 100,138,731 (GRCm39) |
T185I |
probably benign |
Het |
Mapk1ip1 |
C |
T |
7: 138,438,426 (GRCm39) |
M1I |
probably null |
Het |
Nt5e |
A |
T |
9: 88,249,351 (GRCm39) |
L428F |
probably damaging |
Het |
Or5p54 |
A |
G |
7: 107,554,502 (GRCm39) |
Y218C |
probably damaging |
Het |
Pah |
G |
T |
10: 87,414,784 (GRCm39) |
V379F |
possibly damaging |
Het |
Scn7a |
T |
C |
2: 66,505,853 (GRCm39) |
T1679A |
probably benign |
Het |
Sdccag8 |
T |
A |
1: 176,672,873 (GRCm39) |
H293Q |
possibly damaging |
Het |
Spmip4 |
T |
C |
6: 50,554,826 (GRCm39) |
I268M |
probably damaging |
Het |
Suco |
A |
G |
1: 161,655,294 (GRCm39) |
M1066T |
probably benign |
Het |
Trim9 |
A |
G |
12: 70,328,654 (GRCm39) |
Y369H |
probably damaging |
Het |
Usp34 |
G |
A |
11: 23,386,020 (GRCm39) |
R2149H |
probably damaging |
Het |
|
Other mutations in Gad1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01907:Gad1
|
APN |
2 |
70,404,470 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL02596:Gad1
|
APN |
2 |
70,425,028 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02654:Gad1
|
APN |
2 |
70,403,125 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02998:Gad1
|
APN |
2 |
70,420,163 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4581001:Gad1
|
UTSW |
2 |
70,430,011 (GRCm39) |
missense |
probably benign |
0.05 |
R0102:Gad1
|
UTSW |
2 |
70,417,583 (GRCm39) |
critical splice donor site |
probably null |
|
R0454:Gad1
|
UTSW |
2 |
70,409,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R0576:Gad1
|
UTSW |
2 |
70,424,996 (GRCm39) |
missense |
probably benign |
0.27 |
R1386:Gad1
|
UTSW |
2 |
70,404,467 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1677:Gad1
|
UTSW |
2 |
70,404,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R1842:Gad1
|
UTSW |
2 |
70,404,597 (GRCm39) |
missense |
probably benign |
0.12 |
R1907:Gad1
|
UTSW |
2 |
70,409,482 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1933:Gad1
|
UTSW |
2 |
70,417,736 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3029:Gad1
|
UTSW |
2 |
70,425,034 (GRCm39) |
missense |
probably benign |
|
R4085:Gad1
|
UTSW |
2 |
70,420,192 (GRCm39) |
missense |
probably benign |
0.36 |
R4321:Gad1
|
UTSW |
2 |
70,420,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R4324:Gad1
|
UTSW |
2 |
70,420,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R4687:Gad1
|
UTSW |
2 |
70,431,064 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4986:Gad1
|
UTSW |
2 |
70,431,037 (GRCm39) |
missense |
probably benign |
|
R5387:Gad1
|
UTSW |
2 |
70,394,195 (GRCm39) |
nonsense |
probably null |
|
R5603:Gad1
|
UTSW |
2 |
70,420,173 (GRCm39) |
missense |
probably damaging |
0.98 |
R6500:Gad1
|
UTSW |
2 |
70,423,780 (GRCm39) |
missense |
probably damaging |
0.98 |
R7146:Gad1
|
UTSW |
2 |
70,417,706 (GRCm39) |
missense |
probably benign |
0.00 |
R7352:Gad1
|
UTSW |
2 |
70,425,094 (GRCm39) |
missense |
probably benign |
0.00 |
R7559:Gad1
|
UTSW |
2 |
70,394,256 (GRCm39) |
critical splice donor site |
probably null |
|
R7579:Gad1
|
UTSW |
2 |
70,417,476 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7809:Gad1
|
UTSW |
2 |
70,427,603 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7941:Gad1
|
UTSW |
2 |
70,424,929 (GRCm39) |
splice site |
probably null |
|
R8290:Gad1
|
UTSW |
2 |
70,404,610 (GRCm39) |
missense |
probably benign |
0.00 |
R8353:Gad1
|
UTSW |
2 |
70,431,057 (GRCm39) |
missense |
probably benign |
0.00 |
R8453:Gad1
|
UTSW |
2 |
70,431,057 (GRCm39) |
missense |
probably benign |
0.00 |
R9017:Gad1
|
UTSW |
2 |
70,416,206 (GRCm39) |
missense |
probably benign |
0.01 |
R9207:Gad1
|
UTSW |
2 |
70,409,546 (GRCm39) |
critical splice donor site |
probably null |
|
R9250:Gad1
|
UTSW |
2 |
70,409,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R9417:Gad1
|
UTSW |
2 |
70,417,716 (GRCm39) |
missense |
possibly damaging |
0.75 |
R9433:Gad1
|
UTSW |
2 |
70,423,807 (GRCm39) |
missense |
|
|
R9589:Gad1
|
UTSW |
2 |
70,416,284 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9620:Gad1
|
UTSW |
2 |
70,404,620 (GRCm39) |
missense |
possibly damaging |
0.54 |
R9675:Gad1
|
UTSW |
2 |
70,416,200 (GRCm39) |
missense |
probably damaging |
1.00 |
X0026:Gad1
|
UTSW |
2 |
70,420,210 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Gad1
|
UTSW |
2 |
70,409,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-02-04 |