Incidental Mutation 'R5603:Gad1'
| ID |
439118 |
| 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 |
043155-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5603 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
70391644-70432358 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 70420173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 352
(F352L)
|
| 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: F352L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000092539
Gene: ENSMUSG00000070880
AA Change: F352L
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Baiap2l1 |
A |
G |
5: 144,202,787 (GRCm39) |
S509P |
probably damaging |
Het |
| Bud31 |
T |
C |
5: 145,081,769 (GRCm39) |
I52T |
possibly damaging |
Het |
| Cacna1g |
C |
T |
11: 94,330,578 (GRCm39) |
S979N |
possibly damaging |
Het |
| Cacna2d4 |
T |
A |
6: 119,221,246 (GRCm39) |
W253R |
probably damaging |
Het |
| Ccna1 |
A |
G |
3: 54,958,330 (GRCm39) |
Y118H |
probably damaging |
Het |
| Cct8l1 |
A |
G |
5: 25,721,497 (GRCm39) |
T71A |
probably benign |
Het |
| Chaf1b |
A |
G |
16: 93,689,683 (GRCm39) |
T19A |
probably damaging |
Het |
| Col6a2 |
A |
T |
10: 76,432,603 (GRCm39) |
V850D |
probably damaging |
Het |
| Cpsf2 |
C |
A |
12: 101,964,890 (GRCm39) |
Q513K |
probably benign |
Het |
| Dnah5 |
T |
G |
15: 28,420,078 (GRCm39) |
V3792G |
probably damaging |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Exoc6b |
T |
C |
6: 84,812,126 (GRCm39) |
D625G |
possibly damaging |
Het |
| Gm5422 |
T |
A |
10: 31,126,840 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2b |
T |
C |
6: 135,900,395 (GRCm39) |
E162G |
probably damaging |
Het |
| Grm6 |
T |
A |
11: 50,747,786 (GRCm39) |
F333I |
probably damaging |
Het |
| Heatr5a |
A |
G |
12: 51,924,358 (GRCm39) |
F1952L |
probably benign |
Het |
| Ighv1-42 |
C |
T |
12: 114,901,132 (GRCm39) |
|
probably benign |
Het |
| Itgb6 |
T |
C |
2: 60,450,706 (GRCm39) |
T578A |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Mfsd14b |
T |
C |
13: 65,221,420 (GRCm39) |
K291E |
probably benign |
Het |
| Mllt6 |
T |
C |
11: 97,564,331 (GRCm39) |
L379P |
probably damaging |
Het |
| Mtmr6 |
A |
T |
14: 60,522,450 (GRCm39) |
K183* |
probably null |
Het |
| Mylk |
A |
G |
16: 34,776,862 (GRCm39) |
N1345S |
probably benign |
Het |
| Nab2 |
A |
T |
10: 127,500,990 (GRCm39) |
M1K |
probably null |
Het |
| Ngly1 |
C |
A |
14: 16,260,762 (GRCm38) |
Q149K |
probably benign |
Het |
| Npy6r |
T |
A |
18: 44,409,652 (GRCm39) |
S358T |
probably damaging |
Het |
| Pbld2 |
A |
G |
10: 62,907,228 (GRCm39) |
T156A |
probably benign |
Het |
| Pik3cd |
A |
T |
4: 149,743,312 (GRCm39) |
C263S |
probably benign |
Het |
| Pramel21 |
T |
A |
4: 143,344,066 (GRCm39) |
C455* |
probably null |
Het |
| Ptk2b |
A |
T |
14: 66,409,514 (GRCm39) |
Y507* |
probably null |
Het |
| Rbm25 |
C |
T |
12: 83,710,990 (GRCm39) |
R368* |
probably null |
Het |
| Rnf207 |
T |
C |
4: 152,396,851 (GRCm39) |
Y396C |
probably damaging |
Het |
| Skint2 |
T |
A |
4: 112,506,961 (GRCm39) |
V328E |
possibly damaging |
Het |
| Slc3a2 |
A |
G |
19: 8,691,092 (GRCm39) |
V7A |
probably benign |
Het |
| Spata18 |
G |
A |
5: 73,828,575 (GRCm39) |
V265I |
probably benign |
Het |
| Tmem120b |
T |
A |
5: 123,239,705 (GRCm39) |
V108D |
possibly damaging |
Het |
| Ugt1a2 |
T |
C |
1: 88,129,148 (GRCm39) |
Y264H |
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 |
|
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 |
|
|
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 |
2016-10-26 |
Incidental Mutation