Incidental Mutation 'R7941:Gad1'
ID |
656366 |
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 |
045987-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7941 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
70391644-70432358 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 70424929 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092539
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094934]
|
AlphaFold |
P48318 |
Predicted Effect |
probably null
Transcript: ENSMUST00000094934
|
SMART Domains |
Protein: ENSMUSP00000092539 Gene: ENSMUSG00000070880
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 |
|
Meta Mutation Damage Score |
0.9756 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
98% (43/44) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl1 |
T |
C |
2: 31,579,691 (GRCm39) |
|
probably benign |
Het |
AI467606 |
A |
G |
7: 126,691,593 (GRCm39) |
E56G |
probably damaging |
Het |
Ak9 |
C |
T |
10: 41,285,133 (GRCm39) |
P1403S |
unknown |
Het |
Akr1c14 |
A |
G |
13: 4,109,713 (GRCm39) |
K28E |
probably benign |
Het |
Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
Anks1b |
A |
T |
10: 90,413,017 (GRCm39) |
N55I |
probably damaging |
Het |
Cabyr |
T |
C |
18: 12,877,825 (GRCm39) |
L54P |
probably damaging |
Het |
Cachd1 |
A |
T |
4: 100,845,370 (GRCm39) |
N954I |
probably damaging |
Het |
Cenpf |
A |
G |
1: 189,389,483 (GRCm39) |
S1450P |
probably damaging |
Het |
Chst10 |
T |
A |
1: 38,910,772 (GRCm39) |
I131L |
probably damaging |
Het |
Cluh |
A |
T |
11: 74,550,583 (GRCm39) |
M270L |
probably benign |
Het |
Dagla |
T |
C |
19: 10,248,867 (GRCm39) |
H29R |
probably damaging |
Het |
Dusp5 |
A |
G |
19: 53,525,964 (GRCm39) |
N202S |
probably benign |
Het |
Elavl3 |
A |
G |
9: 21,947,612 (GRCm39) |
I110T |
possibly damaging |
Het |
Fam222b |
G |
T |
11: 78,045,885 (GRCm39) |
G482V |
possibly damaging |
Het |
Fbxl7 |
A |
G |
15: 26,543,699 (GRCm39) |
L316P |
probably damaging |
Het |
H2-K2 |
T |
C |
17: 34,218,305 (GRCm39) |
T204A |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,525,835 (GRCm39) |
V3296A |
possibly damaging |
Het |
Hyal1 |
T |
C |
9: 107,455,299 (GRCm39) |
F203S |
probably damaging |
Het |
Il16 |
T |
A |
7: 83,332,037 (GRCm39) |
D181V |
probably damaging |
Het |
Ip6k1 |
T |
C |
9: 107,901,631 (GRCm39) |
F69L |
probably damaging |
Het |
Klf4 |
G |
A |
4: 55,531,755 (GRCm39) |
|
probably benign |
Het |
Lsr |
T |
G |
7: 30,672,520 (GRCm39) |
I27L |
probably benign |
Het |
Mettl4 |
A |
T |
17: 95,040,622 (GRCm39) |
|
probably null |
Het |
Mpdz |
A |
G |
4: 81,200,987 (GRCm39) |
V1902A |
probably benign |
Het |
Nfkbiz |
C |
T |
16: 55,642,307 (GRCm39) |
G37D |
probably damaging |
Het |
Or5w11 |
T |
C |
2: 87,459,248 (GRCm39) |
V31A |
probably benign |
Het |
Otogl |
A |
T |
10: 107,642,663 (GRCm39) |
|
probably null |
Het |
Pcdh1 |
T |
C |
18: 38,332,133 (GRCm39) |
D429G |
probably damaging |
Het |
Pramel34 |
A |
T |
5: 93,785,887 (GRCm39) |
V131D |
probably benign |
Het |
Prelid2 |
A |
T |
18: 42,065,816 (GRCm39) |
L73* |
probably null |
Het |
Psg20 |
T |
A |
7: 18,415,102 (GRCm39) |
|
probably null |
Het |
Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
Rab24 |
C |
T |
13: 55,468,120 (GRCm39) |
|
probably null |
Het |
Rag1 |
T |
G |
2: 101,472,691 (GRCm39) |
K817T |
probably benign |
Het |
Rgl2 |
T |
C |
17: 34,150,713 (GRCm39) |
V57A |
probably benign |
Het |
Ric1 |
T |
C |
19: 29,510,659 (GRCm39) |
M80T |
probably damaging |
Het |
Sh3rf3 |
T |
C |
10: 58,842,883 (GRCm39) |
I283T |
probably damaging |
Het |
Skint2 |
C |
A |
4: 112,483,187 (GRCm39) |
N197K |
probably damaging |
Het |
Snapc4 |
A |
G |
2: 26,266,730 (GRCm39) |
I126T |
probably damaging |
Het |
Srcap |
GTCCTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT |
GTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT |
7: 127,157,462 (GRCm39) |
|
probably benign |
Het |
Svip |
T |
C |
7: 51,653,161 (GRCm39) |
K51R |
probably benign |
Het |
Syndig1 |
T |
A |
2: 149,741,708 (GRCm39) |
V98E |
probably benign |
Het |
Tshz1 |
A |
T |
18: 84,033,517 (GRCm39) |
M297K |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,749,694 (GRCm39) |
V3785A |
probably benign |
Het |
Usf3 |
T |
C |
16: 44,035,924 (GRCm39) |
S135P |
probably damaging |
Het |
Vmn2r10 |
A |
T |
5: 109,144,306 (GRCm39) |
M548K |
probably damaging |
Het |
Vmn2r92 |
T |
C |
17: 18,405,099 (GRCm39) |
S748P |
possibly damaging |
Het |
Zbtb39 |
A |
G |
10: 127,579,409 (GRCm39) |
Y661C |
probably damaging |
Het |
Zfp804b |
A |
G |
5: 6,820,042 (GRCm39) |
I1007T |
probably benign |
Het |
Zscan4-ps2 |
A |
G |
7: 11,251,599 (GRCm39) |
I212V |
probably benign |
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 |
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 |
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'- TGTCCAGATGTCTCTTAGAGGG -3'
(R):5'- TTGCTTTCCACATCAGCCAG -3'
Sequencing Primer
(F):5'- CAGTGAGGCCCTTGTTTTAGACATC -3'
(R):5'- TCAGCCAGAACTTGAAGATGTC -3'
|
Posted On |
2020-10-29 |