Incidental Mutation 'R7579:Gad1'
| ID |
586620 |
| 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 |
045633-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7579 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
70391644-70432358 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 70417476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 253
(I253K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094934]
[ENSMUST00000123330]
[ENSMUST00000130604]
[ENSMUST00000130998]
[ENSMUST00000148210]
|
| AlphaFold |
P48318 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094934
AA Change: I253K
PolyPhen 2
Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000092539
Gene: ENSMUSG00000070880
AA Change: I253K
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (51/53) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
G |
T |
7: 119,292,933 (GRCm39) |
R21L |
probably benign |
Het |
| Adgb |
T |
A |
10: 10,286,562 (GRCm39) |
R120* |
probably null |
Het |
| Adgra3 |
C |
A |
5: 50,144,977 (GRCm39) |
A539S |
probably benign |
Het |
| Ank2 |
A |
G |
3: 126,740,047 (GRCm39) |
S1946P |
unknown |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cdc20b |
A |
T |
13: 113,173,582 (GRCm39) |
|
probably null |
Het |
| Cfh |
T |
G |
1: 140,036,328 (GRCm39) |
D730A |
possibly damaging |
Het |
| Dennd1a |
T |
C |
2: 37,748,444 (GRCm39) |
H345R |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,388,294 (GRCm39) |
S614G |
possibly damaging |
Het |
| Dio1 |
C |
T |
4: 107,149,583 (GRCm39) |
V240I |
possibly damaging |
Het |
| Dnah12 |
A |
G |
14: 26,492,460 (GRCm39) |
D1200G |
probably benign |
Het |
| Dpy19l4 |
A |
T |
4: 11,265,909 (GRCm39) |
S680T |
probably benign |
Het |
| Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
| Fcrlb |
T |
C |
1: 170,735,416 (GRCm39) |
|
probably null |
Het |
| Gars1 |
A |
G |
6: 55,054,688 (GRCm39) |
D665G |
probably damaging |
Het |
| Gldn |
A |
G |
9: 54,245,648 (GRCm39) |
T400A |
probably benign |
Het |
| Gm1110 |
C |
A |
9: 26,795,122 (GRCm39) |
V455L |
possibly damaging |
Het |
| Gm11444 |
A |
G |
11: 85,741,069 (GRCm39) |
V30A |
unknown |
Het |
| Gm5134 |
T |
C |
10: 75,800,271 (GRCm39) |
S51P |
probably damaging |
Het |
| Gprc6a |
C |
T |
10: 51,502,883 (GRCm39) |
A327T |
probably benign |
Het |
| Gstt2 |
A |
T |
10: 75,670,019 (GRCm39) |
D34E |
probably benign |
Het |
| Icam2 |
A |
G |
11: 106,271,589 (GRCm39) |
F78L |
probably damaging |
Het |
| Jakmip1 |
T |
G |
5: 37,284,802 (GRCm39) |
C630G |
possibly damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,386,686 (GRCm39) |
N523I |
probably damaging |
Het |
| Klf10 |
A |
G |
15: 38,297,282 (GRCm39) |
S253P |
probably benign |
Het |
| Mmd2 |
A |
T |
5: 142,594,361 (GRCm39) |
M1K |
probably null |
Het |
| Mroh2b |
G |
T |
15: 4,960,543 (GRCm39) |
G759C |
probably benign |
Het |
| Or10w3 |
T |
C |
19: 13,704,465 (GRCm39) |
L280P |
probably damaging |
Het |
| Or2b7 |
A |
T |
13: 21,740,176 (GRCm39) |
N5K |
probably benign |
Het |
| Or8k32 |
C |
T |
2: 86,368,872 (GRCm39) |
C127Y |
probably damaging |
Het |
| Orc5 |
A |
G |
5: 22,755,197 (GRCm39) |
F22S |
possibly damaging |
Het |
| Prlr |
A |
G |
15: 10,329,021 (GRCm39) |
I499V |
probably benign |
Het |
| Ptbp1 |
A |
G |
10: 79,694,954 (GRCm39) |
N94S |
probably benign |
Het |
| Rassf3 |
C |
A |
10: 121,312,103 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
C |
T |
5: 28,573,264 (GRCm39) |
P455S |
probably damaging |
Het |
| Sgcd |
C |
G |
11: 47,016,481 (GRCm39) |
G127A |
possibly damaging |
Het |
| Slc22a13 |
A |
G |
9: 119,024,226 (GRCm39) |
I336T |
possibly damaging |
Het |
| Slc25a31 |
A |
T |
3: 40,679,471 (GRCm39) |
D312V |
possibly damaging |
Het |
| Slc37a4 |
G |
A |
9: 44,312,818 (GRCm39) |
S324N |
probably benign |
Het |
| Slco1a5 |
A |
G |
6: 142,221,207 (GRCm39) |
V13A |
probably benign |
Het |
| Srgap2 |
T |
C |
1: 131,220,371 (GRCm39) |
H907R |
probably damaging |
Het |
| Supv3l1 |
A |
C |
10: 62,271,487 (GRCm39) |
V381G |
probably damaging |
Het |
| Supv3l1 |
C |
A |
10: 62,271,488 (GRCm39) |
V381L |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,299,324 (GRCm39) |
D977G |
probably damaging |
Het |
| Syt3 |
T |
A |
7: 44,040,272 (GRCm39) |
Y168* |
probably null |
Het |
| Tshz1 |
A |
T |
18: 84,032,790 (GRCm39) |
Y539* |
probably null |
Het |
| Ttll13 |
A |
G |
7: 79,907,981 (GRCm39) |
K501R |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,612,732 (GRCm39) |
Q17116* |
probably null |
Het |
| Vcan |
T |
C |
13: 89,840,577 (GRCm39) |
T1656A |
probably damaging |
Het |
| Vmn1r73 |
G |
T |
7: 11,491,082 (GRCm39) |
C300F |
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,992,948 (GRCm39) |
K521E |
probably damaging |
Het |
| Zdhhc11 |
T |
A |
13: 74,130,885 (GRCm39) |
|
probably benign |
Het |
| Zfp760 |
T |
C |
17: 21,941,907 (GRCm39) |
S361P |
possibly damaging |
Het |
| Zranb2 |
A |
G |
3: 157,246,309 (GRCm39) |
Y114C |
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 |
|
|
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 |
|
|
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'- TGCAATGCCTGAAACACCTC -3'
(R):5'- CTGCAACAAAGGGATGCTTGAG -3'
Sequencing Primer
(F):5'- CCTACATAGCTCTGGAAATAAGTGC -3'
(R):5'- GAGGTTAAAAGTTGCATAGTCCC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation