Incidental Mutation 'IGL02596:Gad1'
| ID |
299859 |
| 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 # |
IGL02596
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
70391644-70432358 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70425028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 441
(Y441H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094934]
|
| AlphaFold |
P48318 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094934
AA Change: Y441H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092539
Gene: ENSMUSG00000070880
AA Change: Y441H
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
T |
G |
4: 73,868,904 (GRCm39) |
Q11H |
possibly damaging |
Het |
| Armcx5 |
T |
A |
X: 134,647,268 (GRCm39) |
I448K |
probably damaging |
Het |
| Atp4b |
T |
A |
8: 13,443,471 (GRCm39) |
Y69F |
possibly damaging |
Het |
| Ccdc7b |
T |
A |
8: 129,798,959 (GRCm39) |
V12E |
probably benign |
Het |
| Cdc5l |
C |
A |
17: 45,735,530 (GRCm39) |
|
probably benign |
Het |
| Clptm1l |
C |
T |
13: 73,761,785 (GRCm39) |
R330C |
probably benign |
Het |
| Cpq |
C |
T |
15: 33,213,160 (GRCm39) |
R60W |
probably damaging |
Het |
| Cpvl |
T |
C |
6: 53,908,995 (GRCm39) |
Y256C |
probably damaging |
Het |
| Cryzl2 |
A |
T |
1: 157,292,539 (GRCm39) |
D107V |
probably damaging |
Het |
| Cyp2e1 |
G |
A |
7: 140,350,031 (GRCm39) |
V239M |
probably damaging |
Het |
| Cyp2j7 |
T |
A |
4: 96,103,659 (GRCm39) |
D292V |
possibly damaging |
Het |
| Dcaf1 |
A |
G |
9: 106,740,220 (GRCm39) |
Y1202C |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,538,137 (GRCm39) |
N3616S |
probably benign |
Het |
| Enam |
A |
G |
5: 88,650,885 (GRCm39) |
D723G |
probably benign |
Het |
| Eps8l1 |
G |
A |
7: 4,473,871 (GRCm39) |
R226H |
probably damaging |
Het |
| Erich2 |
A |
G |
2: 70,343,147 (GRCm39) |
|
probably benign |
Het |
| Esyt3 |
A |
C |
9: 99,210,068 (GRCm39) |
L271V |
probably benign |
Het |
| Fer1l4 |
T |
C |
2: 155,881,052 (GRCm39) |
N838S |
probably benign |
Het |
| Gja1 |
G |
T |
10: 56,264,348 (GRCm39) |
V236F |
possibly damaging |
Het |
| Gpr156 |
T |
C |
16: 37,799,086 (GRCm39) |
I100T |
probably benign |
Het |
| Hace1 |
A |
G |
10: 45,576,736 (GRCm39) |
T803A |
possibly damaging |
Het |
| Jagn1 |
G |
A |
6: 113,424,562 (GRCm39) |
V145I |
probably benign |
Het |
| Kdm4b |
C |
A |
17: 56,706,706 (GRCm39) |
T899K |
probably benign |
Het |
| Klk1b8 |
G |
A |
7: 43,602,187 (GRCm39) |
V40M |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Mast1 |
G |
T |
8: 85,644,400 (GRCm39) |
A843E |
probably benign |
Het |
| Mbd1 |
T |
A |
18: 74,409,868 (GRCm39) |
|
probably benign |
Het |
| Mdga1 |
A |
G |
17: 30,051,379 (GRCm39) |
|
probably benign |
Het |
| Mlh3 |
A |
G |
12: 85,287,732 (GRCm39) |
|
probably null |
Het |
| Or10ag53 |
C |
A |
2: 87,082,473 (GRCm39) |
T64K |
probably damaging |
Het |
| Or5b109 |
A |
T |
19: 13,211,763 (GRCm39) |
I50F |
probably damaging |
Het |
| Pwp1 |
A |
G |
10: 85,707,882 (GRCm39) |
|
probably null |
Het |
| Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
| Slc12a7 |
T |
A |
13: 73,933,242 (GRCm39) |
V100E |
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,723,083 (GRCm39) |
H699L |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tgfb1i1 |
T |
A |
7: 127,848,068 (GRCm39) |
M1K |
probably null |
Het |
| Tubgcp6 |
T |
A |
15: 88,985,117 (GRCm39) |
E1657V |
probably damaging |
Het |
| Zfp770 |
A |
G |
2: 114,026,308 (GRCm39) |
V587A |
probably benign |
Het |
| Zxdc |
A |
G |
6: 90,350,691 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Gad1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01794:Gad1
|
APN |
2 |
70,427,512 (GRCm39) |
missense |
probably benign |
|
|
IGL01907:Gad1
|
APN |
2 |
70,404,470 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
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 |
2015-04-16 |
Incidental Mutation