Incidental Mutation 'R0771:Gadl1'
| ID |
76956 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gadl1
|
| Ensembl Gene |
ENSMUSG00000056880 |
| Gene Name |
glutamate decarboxylase-like 1 |
| Synonyms |
1110027M19Rik |
| MMRRC Submission |
038951-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R0771 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
115713947-115905243 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 115773300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 114
(R114Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113240
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069651]
[ENSMUST00000119291]
[ENSMUST00000121770]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069651
AA Change: R114Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077694
Gene: ENSMUSG00000056880
AA Change: R114Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pyridoxal_deC
|
58 |
426 |
1.1e-113 |
PFAM |
|
Pfam:Beta_elim_lyase
|
137 |
467 |
1e-7 |
PFAM |
|
Pfam:Aminotran_5
|
167 |
333 |
1.6e-7 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119291
AA Change: R114Q
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112433
Gene: ENSMUSG00000056880
AA Change: R114Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pyridoxal_deC
|
58 |
426 |
3.2e-112 |
PFAM |
|
Pfam:Beta_elim_lyase
|
137 |
446 |
1.6e-6 |
PFAM |
|
Pfam:Aminotran_5
|
184 |
330 |
3.3e-6 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121770
AA Change: R114Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113240
Gene: ENSMUSG00000056880
AA Change: R114Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pyridoxal_deC
|
58 |
426 |
2.8e-112 |
PFAM |
|
Pfam:Beta_elim_lyase
|
137 |
461 |
6.2e-8 |
PFAM |
|
Pfam:Aminotran_5
|
184 |
330 |
4.1e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abr |
T |
C |
11: 76,346,509 (GRCm39) |
E434G |
probably damaging |
Het |
| Adam19 |
G |
A |
11: 46,012,280 (GRCm39) |
V259I |
possibly damaging |
Het |
| Adam5 |
A |
G |
8: 25,276,315 (GRCm39) |
S451P |
probably benign |
Het |
| Chd6 |
G |
A |
2: 160,861,500 (GRCm39) |
L516F |
probably damaging |
Het |
| Elovl4 |
A |
G |
9: 83,667,168 (GRCm39) |
V154A |
possibly damaging |
Het |
| Ipo13 |
T |
C |
4: 117,751,843 (GRCm39) |
N936S |
possibly damaging |
Het |
| Kcnd2 |
T |
A |
6: 21,216,441 (GRCm39) |
S48R |
probably damaging |
Het |
| Lgalsl2 |
A |
G |
7: 5,362,822 (GRCm39) |
D151G |
probably damaging |
Het |
| Lim2 |
C |
A |
7: 43,080,127 (GRCm39) |
A38E |
possibly damaging |
Het |
| Lrp2 |
A |
T |
2: 69,338,334 (GRCm39) |
D1177E |
probably damaging |
Het |
| Mdh1 |
C |
T |
11: 21,507,550 (GRCm39) |
V300I |
probably benign |
Het |
| Mfsd4b4 |
T |
C |
10: 39,768,407 (GRCm39) |
T275A |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,778,264 (GRCm39) |
Y114C |
probably damaging |
Het |
| Ncapg2 |
T |
A |
12: 116,376,779 (GRCm39) |
C122* |
probably null |
Het |
| Nod1 |
T |
G |
6: 54,921,254 (GRCm39) |
S355R |
probably damaging |
Het |
| Or52x1 |
T |
A |
7: 104,853,368 (GRCm39) |
M61L |
possibly damaging |
Het |
| Or5ap2 |
A |
T |
2: 85,680,338 (GRCm39) |
I181F |
possibly damaging |
Het |
| Pcsk1 |
A |
T |
13: 75,280,281 (GRCm39) |
E702V |
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,655,339 (GRCm39) |
T543A |
probably damaging |
Het |
| Ranbp9 |
T |
C |
13: 43,615,249 (GRCm39) |
I190V |
possibly damaging |
Het |
| Sirpd |
T |
A |
3: 15,385,506 (GRCm39) |
Q132L |
probably benign |
Het |
| Slc1a4 |
C |
T |
11: 20,256,467 (GRCm39) |
V455M |
probably damaging |
Het |
| Srbd1 |
T |
A |
17: 86,437,682 (GRCm39) |
E220D |
probably benign |
Het |
| Thsd7a |
A |
G |
6: 12,327,576 (GRCm39) |
V1432A |
probably benign |
Het |
| Zfp61 |
T |
C |
7: 23,992,779 (GRCm39) |
R71G |
probably benign |
Het |
|
| Other mutations in Gadl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01069:Gadl1
|
APN |
9 |
115,783,907 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01343:Gadl1
|
APN |
9 |
115,903,180 (GRCm39) |
makesense |
probably null |
|
|
IGL01693:Gadl1
|
APN |
9 |
115,778,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02106:Gadl1
|
APN |
9 |
115,766,225 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02740:Gadl1
|
APN |
9 |
115,835,629 (GRCm39) |
nonsense |
probably null |
|
|
IGL03063:Gadl1
|
APN |
9 |
115,795,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03104:Gadl1
|
APN |
9 |
115,903,108 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03127:Gadl1
|
APN |
9 |
115,777,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0133:Gadl1
|
UTSW |
9 |
115,770,411 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0285:Gadl1
|
UTSW |
9 |
115,859,806 (GRCm39) |
splice site |
probably benign |
|
|
R0737:Gadl1
|
UTSW |
9 |
115,903,055 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1522:Gadl1
|
UTSW |
9 |
115,773,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1716:Gadl1
|
UTSW |
9 |
115,835,576 (GRCm39) |
nonsense |
probably null |
|
|
R2061:Gadl1
|
UTSW |
9 |
115,770,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2163:Gadl1
|
UTSW |
9 |
115,778,626 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3854:Gadl1
|
UTSW |
9 |
115,835,732 (GRCm39) |
nonsense |
probably null |
|
|
R3964:Gadl1
|
UTSW |
9 |
115,794,676 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4654:Gadl1
|
UTSW |
9 |
115,770,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4724:Gadl1
|
UTSW |
9 |
115,783,685 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4765:Gadl1
|
UTSW |
9 |
115,795,381 (GRCm39) |
missense |
probably null |
0.00 |
|
R4956:Gadl1
|
UTSW |
9 |
115,869,987 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5179:Gadl1
|
UTSW |
9 |
115,789,448 (GRCm39) |
nonsense |
probably null |
|
|
R5593:Gadl1
|
UTSW |
9 |
115,835,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5620:Gadl1
|
UTSW |
9 |
115,766,230 (GRCm39) |
start codon destroyed |
probably benign |
0.09 |
|
R6048:Gadl1
|
UTSW |
9 |
115,835,769 (GRCm39) |
splice site |
probably null |
|
|
R6458:Gadl1
|
UTSW |
9 |
115,870,070 (GRCm39) |
makesense |
probably null |
|
|
R7497:Gadl1
|
UTSW |
9 |
115,903,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7889:Gadl1
|
UTSW |
9 |
115,783,883 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8843:Gadl1
|
UTSW |
9 |
115,835,569 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8858:Gadl1
|
UTSW |
9 |
115,835,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9015:Gadl1
|
UTSW |
9 |
115,794,705 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9459:Gadl1
|
UTSW |
9 |
115,794,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9758:Gadl1
|
UTSW |
9 |
115,789,519 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1088:Gadl1
|
UTSW |
9 |
115,766,338 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCTTCCTTGGTGTAGCAAATCC -3'
(R):5'- GCTGCTAATGTATAGCACAGCCCTG -3'
Sequencing Primer
(F):5'- TGGTGTAGCAAATCCTTACCTC -3'
(R):5'- AGAGTTGCTTAACCAGGTCTC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation