Incidental Mutation 'R4321:Gad1'
| ID |
323807 |
| 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 |
041662-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4321 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
70391644-70432358 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 70420174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 353
(D353N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094934]
[ENSMUST00000123330]
[ENSMUST00000130604]
[ENSMUST00000130998]
|
| AlphaFold |
P48318 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094934
AA Change: D353N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092539
Gene: ENSMUSG00000070880
AA Change: D353N
| 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 |
probably benign
Transcript: ENSMUST00000123330
|
| SMART Domains |
Protein: ENSMUSP00000116301
Gene: ENSMUSG00000070880
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
|
Pfam:Pyridoxal_deC
|
143 |
249 |
6.5e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130604
|
| SMART Domains |
Protein: ENSMUSP00000117721
Gene: ENSMUSG00000070880
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
|
Pfam:Pyridoxal_deC
|
143 |
218 |
2.9e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130998
|
| SMART Domains |
Protein: ENSMUSP00000119379
Gene: ENSMUSG00000070880
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
|
Pfam:Pyridoxal_deC
|
143 |
218 |
2.9e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140478
|
| Meta Mutation Damage Score |
0.4441 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
95% (56/59) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
T |
10: 29,100,887 (GRCm39) |
D420V |
probably damaging |
Het |
| Als2 |
A |
C |
1: 59,206,613 (GRCm39) |
|
probably benign |
Het |
| Ankrd9 |
A |
G |
12: 110,943,074 (GRCm39) |
L287P |
probably damaging |
Het |
| Aoc1l1 |
T |
A |
6: 48,953,456 (GRCm39) |
D460E |
probably damaging |
Het |
| Bbof1 |
A |
T |
12: 84,473,902 (GRCm39) |
R411* |
probably null |
Het |
| Camta2 |
A |
T |
11: 70,569,151 (GRCm39) |
L598Q |
probably damaging |
Het |
| Ccdc178 |
T |
A |
18: 22,166,600 (GRCm39) |
K530* |
probably null |
Het |
| Cep85 |
G |
A |
4: 133,859,596 (GRCm39) |
T689I |
probably damaging |
Het |
| Clvs1 |
T |
C |
4: 9,282,029 (GRCm39) |
|
probably benign |
Het |
| Cpped1 |
T |
C |
16: 11,705,610 (GRCm39) |
T65A |
probably benign |
Het |
| Daxx |
T |
C |
17: 34,130,380 (GRCm39) |
Y132H |
possibly damaging |
Het |
| Dock7 |
T |
C |
4: 98,960,691 (GRCm39) |
E279G |
probably damaging |
Het |
| Dok7 |
A |
T |
5: 35,237,141 (GRCm39) |
|
probably benign |
Het |
| Dthd1 |
A |
T |
5: 62,976,033 (GRCm39) |
I236F |
probably damaging |
Het |
| Egf |
A |
G |
3: 129,499,783 (GRCm39) |
C285R |
probably damaging |
Het |
| Epha4 |
T |
A |
1: 77,483,850 (GRCm39) |
|
probably null |
Het |
| Fbxw13 |
A |
C |
9: 109,010,503 (GRCm39) |
I378M |
probably benign |
Het |
| Gaa |
A |
T |
11: 119,160,963 (GRCm39) |
N2I |
probably benign |
Het |
| Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
| Gm2663 |
G |
T |
6: 40,974,530 (GRCm39) |
Q87K |
probably damaging |
Het |
| Golga4 |
A |
G |
9: 118,385,503 (GRCm39) |
E847G |
probably damaging |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Ibtk |
T |
C |
9: 85,617,125 (GRCm39) |
D149G |
possibly damaging |
Het |
| Ice1 |
A |
T |
13: 70,751,229 (GRCm39) |
V1619E |
possibly damaging |
Het |
| Itpr3 |
A |
G |
17: 27,330,948 (GRCm39) |
E1752G |
probably benign |
Het |
| Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
| Kprp |
G |
A |
3: 92,732,163 (GRCm39) |
R296W |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,078,078 (GRCm39) |
G1171D |
probably benign |
Het |
| Lonp2 |
A |
G |
8: 87,392,356 (GRCm39) |
H474R |
probably damaging |
Het |
| Mark1 |
G |
T |
1: 184,630,871 (GRCm39) |
D746E |
possibly damaging |
Het |
| Mlxipl |
C |
T |
5: 135,164,304 (GRCm39) |
Q167* |
probably null |
Het |
| Myo3a |
A |
T |
2: 22,271,966 (GRCm39) |
N162Y |
probably damaging |
Het |
| Myo5a |
T |
G |
9: 75,124,812 (GRCm39) |
V1787G |
probably damaging |
Het |
| Myorg |
C |
T |
4: 41,498,767 (GRCm39) |
V288I |
probably benign |
Het |
| Nrxn3 |
A |
T |
12: 90,166,005 (GRCm39) |
E227V |
probably damaging |
Het |
| Orc1 |
G |
A |
4: 108,445,973 (GRCm39) |
M30I |
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Rufy2 |
A |
G |
10: 62,818,459 (GRCm39) |
D5G |
probably damaging |
Het |
| Rufy4 |
A |
T |
1: 74,171,943 (GRCm39) |
D222V |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Septin1 |
G |
A |
7: 126,816,200 (GRCm39) |
P77S |
probably damaging |
Het |
| Slamf1 |
T |
C |
1: 171,602,694 (GRCm39) |
|
probably null |
Het |
| Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
| Spef2 |
A |
T |
15: 9,679,429 (GRCm39) |
I636K |
possibly damaging |
Het |
| Tshz2 |
T |
A |
2: 169,727,465 (GRCm39) |
I218N |
possibly damaging |
Het |
| Txnl1 |
T |
C |
18: 63,812,561 (GRCm39) |
T78A |
possibly damaging |
Het |
| Ulk4 |
T |
G |
9: 120,903,062 (GRCm39) |
R1138S |
probably benign |
Het |
| Vamp8 |
A |
C |
6: 72,362,536 (GRCm39) |
V88G |
possibly damaging |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
| Zfp850 |
A |
C |
7: 27,688,825 (GRCm39) |
F461C |
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 |
|
R3029:Gad1
|
UTSW |
2 |
70,425,034 (GRCm39) |
missense |
probably benign |
|
|
R4085:Gad1
|
UTSW |
2 |
70,420,192 (GRCm39) |
missense |
probably benign |
0.36 |
|
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'- TCCCGTAGAAACAAGCAGATG -3'
(R):5'- CTGTGGCATGCACTGTTCAC -3'
Sequencing Primer
(F):5'- TCTAAGAGGGCATACCACTCTTG -3'
(R):5'- GCAGGAGCTAACATAGGTGG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation