Incidental Mutation 'R3029:Gad1'
ID |
265898 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gad1
|
Ensembl Gene |
ENSMUSG00000070880 |
Gene Name |
glutamate decarboxylase 1 |
Synonyms |
Gad-1, GAD67, Z49976, GAD44, GAD25, EP10 |
MMRRC Submission |
040545-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3029 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
70391644-70432358 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 70425034 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 443
(V443I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092539
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094934]
|
AlphaFold |
P48318 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094934
AA Change: V443I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000092539 Gene: ENSMUSG00000070880 AA Change: V443I
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630001G21Rik |
A |
G |
1: 85,645,966 (GRCm39) |
I213T |
probably benign |
Het |
Atp8a2 |
CGT |
CGTGT |
14: 59,928,914 (GRCm39) |
|
probably null |
Het |
Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
Cdk6 |
G |
A |
5: 3,440,817 (GRCm39) |
|
probably null |
Het |
Cryab |
T |
A |
9: 50,667,638 (GRCm39) |
I124N |
probably damaging |
Het |
E2f5 |
A |
G |
3: 14,668,725 (GRCm39) |
I206V |
probably benign |
Het |
Eya4 |
T |
C |
10: 22,999,776 (GRCm39) |
T396A |
probably benign |
Het |
Fat2 |
T |
C |
11: 55,175,535 (GRCm39) |
Y1726C |
probably damaging |
Het |
H2-M11 |
C |
T |
17: 36,859,042 (GRCm39) |
T194I |
possibly damaging |
Het |
Ighv7-2 |
A |
G |
12: 113,876,100 (GRCm39) |
F2L |
probably benign |
Het |
Itgad |
T |
A |
7: 127,777,543 (GRCm39) |
I141N |
possibly damaging |
Het |
Kcnh1 |
C |
T |
1: 192,188,368 (GRCm39) |
T970M |
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Nlrp1a |
T |
A |
11: 71,014,456 (GRCm39) |
T265S |
probably damaging |
Het |
Nsun4 |
A |
G |
4: 115,909,922 (GRCm39) |
S213P |
possibly damaging |
Het |
Pkdrej |
C |
T |
15: 85,701,205 (GRCm39) |
R1577Q |
probably benign |
Het |
Proz |
A |
T |
8: 13,111,042 (GRCm39) |
I5F |
probably benign |
Het |
Rbm48 |
A |
T |
5: 3,646,043 (GRCm39) |
F54I |
possibly damaging |
Het |
Rgs20 |
T |
C |
1: 5,140,276 (GRCm39) |
D42G |
probably benign |
Het |
Rxfp2 |
A |
C |
5: 149,966,595 (GRCm39) |
D111A |
probably benign |
Het |
Sparcl1 |
T |
C |
5: 104,241,092 (GRCm39) |
T111A |
possibly damaging |
Het |
Vmn2r14 |
T |
A |
5: 109,363,776 (GRCm39) |
L713F |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTTCTGACCTGAGTGGCAG -3'
(R):5'- TAGCCATAGTTCCCAGGCTAG -3'
Sequencing Primer
(F):5'- CCCAAGAGTGTCTTTAAAGGACATC -3'
(R):5'- TAGTTCCCAGGCTAGCCACAG -3'
|
Posted On |
2015-02-05 |