Incidental Mutation 'IGL03127:Gadl1'
| ID |
410192 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gadl1
|
| Ensembl Gene |
ENSMUSG00000056880 |
| Gene Name |
glutamate decarboxylase-like 1 |
| Synonyms |
1110027M19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
IGL03127
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
115713947-115905243 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 115777732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 126
(T126M)
|
| 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: T126M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077694
Gene: ENSMUSG00000056880
AA Change: T126M
| 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 |
probably damaging
Transcript: ENSMUST00000119291
AA Change: T126M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112433
Gene: ENSMUSG00000056880
AA Change: T126M
| 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: T126M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113240
Gene: ENSMUSG00000056880
AA Change: T126M
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Amdhd2 |
A |
G |
17: 24,376,712 (GRCm39) |
|
probably null |
Het |
| Apol7c |
A |
G |
15: 77,410,106 (GRCm39) |
M280T |
probably benign |
Het |
| Atl2 |
T |
C |
17: 80,160,283 (GRCm39) |
M264V |
probably damaging |
Het |
| Ccdc141 |
C |
T |
2: 76,859,579 (GRCm39) |
|
probably null |
Het |
| Dtx4 |
T |
C |
19: 12,463,864 (GRCm39) |
|
probably benign |
Het |
| Dyrk4 |
G |
A |
6: 126,874,134 (GRCm39) |
T152I |
possibly damaging |
Het |
| F5 |
T |
A |
1: 164,021,107 (GRCm39) |
I1194N |
probably benign |
Het |
| Gcnt7 |
A |
T |
2: 172,296,331 (GRCm39) |
C110* |
probably null |
Het |
| H2-M9 |
C |
T |
17: 36,951,714 (GRCm39) |
V254M |
possibly damaging |
Het |
| Hadha |
A |
T |
5: 30,339,184 (GRCm39) |
|
probably benign |
Het |
| Kit |
T |
C |
5: 75,801,848 (GRCm39) |
M621T |
probably benign |
Het |
| Krt73 |
T |
C |
15: 101,704,275 (GRCm39) |
M422V |
probably benign |
Het |
| Neil2 |
T |
C |
14: 63,429,257 (GRCm39) |
H12R |
probably benign |
Het |
| Nrsn1 |
A |
G |
13: 25,437,700 (GRCm39) |
L76P |
probably damaging |
Het |
| Or2y1g |
T |
G |
11: 49,171,599 (GRCm39) |
V208G |
possibly damaging |
Het |
| Or8b1 |
C |
A |
9: 38,399,882 (GRCm39) |
Q186K |
probably benign |
Het |
| Or8d2 |
T |
A |
9: 38,759,505 (GRCm39) |
Y32N |
probably damaging |
Het |
| Pot1a |
G |
A |
6: 25,794,615 (GRCm39) |
A23V |
probably benign |
Het |
| Ppp1r14d |
A |
G |
2: 119,048,841 (GRCm39) |
*147Q |
probably null |
Het |
| Ptger2 |
T |
C |
14: 45,239,462 (GRCm39) |
|
probably benign |
Het |
| Syne3 |
A |
T |
12: 104,909,687 (GRCm39) |
D716E |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,976,102 (GRCm39) |
N554D |
probably damaging |
Het |
| Ushbp1 |
T |
A |
8: 71,847,020 (GRCm39) |
Q204L |
possibly damaging |
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 |
|
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 |
|
R0771:Gadl1
|
UTSW |
9 |
115,773,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation