Incidental Mutation 'R0102:Gad1'
| ID |
63274 |
| 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 |
038388-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0102 (G1)
|
| Quality Score |
97 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
70391644-70432358 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 70417583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094934]
[ENSMUST00000123330]
[ENSMUST00000130604]
[ENSMUST00000130998]
[ENSMUST00000148210]
|
| 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 |
|
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148210
|
| SMART Domains |
Protein: ENSMUSP00000119733
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 |
|
| Meta Mutation Damage Score |
0.9493 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.5%
- 20x: 91.8%
|
| Validation Efficiency |
98% (65/66) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,773,874 (GRCm39) |
K1021R |
probably damaging |
Het |
| 2610528J11Rik |
G |
A |
4: 118,386,762 (GRCm39) |
V36M |
probably damaging |
Het |
| 4930402F06Rik |
T |
A |
2: 35,265,795 (GRCm39) |
R292* |
probably null |
Het |
| Abcb4 |
T |
C |
5: 8,959,194 (GRCm39) |
F207S |
probably damaging |
Het |
| Afap1l2 |
G |
T |
19: 56,916,872 (GRCm39) |
|
probably benign |
Het |
| Arfgef2 |
A |
T |
2: 166,687,385 (GRCm39) |
H203L |
probably benign |
Het |
| Cfi |
A |
C |
3: 129,642,416 (GRCm39) |
H90P |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,520,775 (GRCm39) |
S371T |
possibly damaging |
Het |
| Cyp2d10 |
C |
T |
15: 82,288,794 (GRCm39) |
M229I |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,245,897 (GRCm39) |
|
probably benign |
Het |
| Dnttip2 |
G |
T |
3: 122,069,452 (GRCm39) |
M222I |
probably benign |
Het |
| Dync1li2 |
A |
T |
8: 105,154,757 (GRCm39) |
Y284N |
probably benign |
Het |
| Ebf1 |
T |
C |
11: 44,882,282 (GRCm39) |
Y413H |
probably benign |
Het |
| Exog |
A |
G |
9: 119,281,319 (GRCm39) |
T186A |
possibly damaging |
Het |
| Fam171a2 |
T |
C |
11: 102,334,939 (GRCm39) |
N66S |
possibly damaging |
Het |
| Golgb1 |
C |
A |
16: 36,695,830 (GRCm39) |
|
probably benign |
Het |
| Gprc5a |
A |
T |
6: 135,056,033 (GRCm39) |
N160I |
probably damaging |
Het |
| Haus3 |
A |
G |
5: 34,323,258 (GRCm39) |
|
probably null |
Het |
| Klhl20 |
A |
T |
1: 160,918,015 (GRCm39) |
C90* |
probably null |
Het |
| Krt84 |
T |
A |
15: 101,437,138 (GRCm39) |
I342L |
probably damaging |
Het |
| Lifr |
G |
A |
15: 7,208,373 (GRCm39) |
D584N |
probably damaging |
Het |
| Lrp1b |
G |
A |
2: 41,298,997 (GRCm39) |
|
probably benign |
Het |
| Lrtm1 |
T |
A |
14: 28,744,184 (GRCm39) |
|
probably benign |
Het |
| Med25 |
C |
T |
7: 44,534,904 (GRCm39) |
V80I |
possibly damaging |
Het |
| Mest |
A |
G |
6: 30,746,269 (GRCm39) |
I279V |
probably damaging |
Het |
| Mki67 |
T |
C |
7: 135,315,532 (GRCm39) |
R81G |
probably benign |
Het |
| Naa25 |
A |
G |
5: 121,573,632 (GRCm39) |
D787G |
possibly damaging |
Het |
| Naaladl1 |
C |
T |
19: 6,162,534 (GRCm39) |
P465S |
probably damaging |
Het |
| Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
| Necab3 |
G |
A |
2: 154,387,232 (GRCm39) |
R302C |
probably damaging |
Het |
| Nsg1 |
A |
T |
5: 38,316,254 (GRCm39) |
D32E |
probably damaging |
Het |
| Nuggc |
A |
G |
14: 65,851,000 (GRCm39) |
D290G |
probably null |
Het |
| Nup205 |
A |
T |
6: 35,202,715 (GRCm39) |
|
probably benign |
Het |
| Or11g27 |
T |
A |
14: 50,771,088 (GRCm39) |
L73Q |
probably damaging |
Het |
| Or2w6 |
T |
C |
13: 21,842,905 (GRCm39) |
D196G |
probably damaging |
Het |
| Or4a77 |
T |
C |
2: 89,486,999 (GRCm39) |
N262S |
probably benign |
Het |
| Or4c111 |
T |
C |
2: 88,844,015 (GRCm39) |
Y131C |
probably damaging |
Het |
| Or4f57 |
G |
C |
2: 111,790,942 (GRCm39) |
Q159E |
probably damaging |
Het |
| Or8h10 |
A |
T |
2: 86,808,549 (GRCm39) |
I197N |
possibly damaging |
Het |
| Otp |
T |
C |
13: 95,013,663 (GRCm39) |
V27A |
probably benign |
Het |
| Phip |
A |
T |
9: 82,787,845 (GRCm39) |
|
probably null |
Het |
| Pon2 |
A |
G |
6: 5,289,091 (GRCm39) |
|
probably benign |
Het |
| Ppp1r12b |
T |
A |
1: 134,763,637 (GRCm39) |
|
probably null |
Het |
| Ppp1r15b |
A |
G |
1: 133,060,908 (GRCm39) |
N475S |
probably damaging |
Het |
| Prrt3 |
A |
T |
6: 113,474,790 (GRCm39) |
L144H |
probably damaging |
Het |
| Psmb7 |
A |
G |
2: 38,533,377 (GRCm39) |
V50A |
possibly damaging |
Het |
| Sacs |
T |
A |
14: 61,442,017 (GRCm39) |
S1354R |
probably damaging |
Het |
| Sdcbp2 |
A |
G |
2: 151,425,884 (GRCm39) |
T29A |
probably benign |
Het |
| Shbg |
T |
A |
11: 69,508,415 (GRCm39) |
|
probably benign |
Het |
| Shcbp1 |
A |
G |
8: 4,794,452 (GRCm39) |
I447T |
probably damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,026,676 (GRCm39) |
V48A |
probably damaging |
Het |
| Thbd |
A |
T |
2: 148,248,903 (GRCm39) |
C322S |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Trappc12 |
A |
T |
12: 28,796,751 (GRCm39) |
F260L |
probably damaging |
Het |
| Trim10 |
C |
A |
17: 37,181,074 (GRCm39) |
H102N |
probably damaging |
Het |
| Ube2u |
A |
G |
4: 100,407,122 (GRCm39) |
T215A |
possibly damaging |
Het |
| Vcan |
T |
G |
13: 89,851,787 (GRCm39) |
T1058P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATTTGGTGAAGCACCAGCTCAAC -3'
(R):5'- AGACCATTAGCAGCTTGGCACAC -3'
Sequencing Primer
(F):5'- GCACCAGCTCAACCTTTG -3'
(R):5'- TCAGGAGCCTAATGCTCACTC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation