Incidental Mutation 'IGL03063:Gadl1'
| ID |
409552 |
| 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 # |
IGL03063
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
115713947-115905243 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 115795335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 313
(H313Y)
|
| 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: H313Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077694
Gene: ENSMUSG00000056880
AA Change: H313Y
| 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: H313Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112433
Gene: ENSMUSG00000056880
AA Change: H313Y
| 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: H313Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113240
Gene: ENSMUSG00000056880
AA Change: H313Y
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
C |
T |
7: 45,665,856 (GRCm39) |
V255I |
probably benign |
Het |
| Arfgef2 |
T |
C |
2: 166,701,702 (GRCm39) |
|
probably benign |
Het |
| Bpifb2 |
A |
T |
2: 153,731,044 (GRCm39) |
Q205L |
probably damaging |
Het |
| Ccdc30 |
C |
T |
4: 119,206,964 (GRCm39) |
R386Q |
possibly damaging |
Het |
| Cdk5rap2 |
T |
A |
4: 70,273,114 (GRCm39) |
|
probably null |
Het |
| Comtd1 |
A |
G |
14: 21,897,735 (GRCm39) |
|
probably null |
Het |
| Dao |
T |
C |
5: 114,159,076 (GRCm39) |
C261R |
probably damaging |
Het |
| Dner |
A |
G |
1: 84,563,059 (GRCm39) |
V187A |
possibly damaging |
Het |
| Dsg3 |
T |
C |
18: 20,666,425 (GRCm39) |
|
probably benign |
Het |
| Eif3j2 |
A |
G |
18: 43,610,444 (GRCm39) |
L123P |
possibly damaging |
Het |
| Esf1 |
G |
A |
2: 139,996,706 (GRCm39) |
|
probably benign |
Het |
| Exo5 |
G |
A |
4: 120,778,830 (GRCm39) |
T345I |
possibly damaging |
Het |
| Fancl |
A |
T |
11: 26,337,299 (GRCm39) |
I29F |
probably damaging |
Het |
| Gm17190 |
G |
A |
13: 96,219,270 (GRCm39) |
|
probably benign |
Het |
| Gtf3c1 |
G |
T |
7: 125,245,675 (GRCm39) |
T1580N |
possibly damaging |
Het |
| Gtf3c6 |
T |
A |
10: 40,127,155 (GRCm39) |
I66L |
probably benign |
Het |
| Hhla1 |
A |
G |
15: 65,813,639 (GRCm39) |
I231T |
probably damaging |
Het |
| Hk2 |
A |
G |
6: 82,716,630 (GRCm39) |
Y273H |
probably damaging |
Het |
| Hk2 |
A |
G |
6: 82,726,213 (GRCm39) |
I83T |
probably benign |
Het |
| Ifit1 |
T |
C |
19: 34,625,404 (GRCm39) |
V180A |
possibly damaging |
Het |
| Igkv9-129 |
A |
T |
6: 67,817,172 (GRCm39) |
D92V |
probably damaging |
Het |
| Lrrc1 |
A |
G |
9: 77,406,551 (GRCm39) |
F36S |
probably damaging |
Het |
| Man1b1 |
A |
G |
2: 25,224,416 (GRCm39) |
E102G |
possibly damaging |
Het |
| Myh8 |
A |
G |
11: 67,179,031 (GRCm39) |
S475G |
probably benign |
Het |
| Or52s1 |
T |
A |
7: 102,861,841 (GRCm39) |
V247D |
probably damaging |
Het |
| Otud4 |
T |
A |
8: 80,390,419 (GRCm39) |
M343K |
probably benign |
Het |
| Peg10 |
A |
T |
6: 4,756,647 (GRCm39) |
|
probably benign |
Het |
| Plet1 |
T |
A |
9: 50,415,722 (GRCm39) |
N197K |
probably benign |
Het |
| Ppp1r12a |
C |
T |
10: 108,097,115 (GRCm39) |
R243C |
probably damaging |
Het |
| Serpinb10 |
A |
T |
1: 107,469,957 (GRCm39) |
K146N |
possibly damaging |
Het |
| Sis |
A |
G |
3: 72,835,630 (GRCm39) |
F911L |
probably benign |
Het |
| Spon1 |
G |
A |
7: 113,632,260 (GRCm39) |
V528M |
possibly damaging |
Het |
| Tdrd9 |
T |
C |
12: 112,010,733 (GRCm39) |
V1100A |
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,283,468 (GRCm39) |
M696V |
probably benign |
Het |
| Triobp |
A |
G |
15: 78,875,084 (GRCm39) |
E122G |
probably damaging |
Het |
| Wt1 |
G |
A |
2: 105,000,368 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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