Incidental Mutation 'IGL01693:Gadl1'
ID |
104177 |
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: 0.096)
|
Stock # |
IGL01693
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
115713947-115905243 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 115778653 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 189
(P189Q)
|
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: P189Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077694 Gene: ENSMUSG00000056880 AA Change: P189Q
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: P189Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112433 Gene: ENSMUSG00000056880 AA Change: P189Q
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: P189Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113240 Gene: ENSMUSG00000056880 AA Change: P189Q
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1b8 |
T |
A |
6: 34,340,271 (GRCm39) |
M145K |
possibly damaging |
Het |
Arhgap39 |
T |
C |
15: 76,610,167 (GRCm39) |
D943G |
probably null |
Het |
Arhgap42 |
A |
T |
9: 9,006,507 (GRCm39) |
W630R |
probably damaging |
Het |
Bbs5 |
T |
A |
2: 69,493,424 (GRCm39) |
S225T |
probably benign |
Het |
Cacna1f |
A |
T |
X: 7,491,606 (GRCm39) |
N1159Y |
probably damaging |
Het |
Catsperg1 |
A |
G |
7: 28,884,523 (GRCm39) |
|
probably benign |
Het |
Cemip2 |
A |
C |
19: 21,779,251 (GRCm39) |
I354L |
probably benign |
Het |
Cep15 |
T |
C |
14: 12,287,380 (GRCm38) |
L55P |
probably damaging |
Het |
Cep97 |
A |
T |
16: 55,750,957 (GRCm39) |
W20R |
probably damaging |
Het |
Cmtm8 |
G |
A |
9: 114,618,773 (GRCm39) |
T160M |
probably damaging |
Het |
Csf2ra |
A |
G |
19: 61,214,434 (GRCm39) |
S244P |
possibly damaging |
Het |
Dnah7b |
C |
T |
1: 46,397,307 (GRCm39) |
P3913S |
probably benign |
Het |
Dnai4 |
T |
C |
4: 102,944,527 (GRCm39) |
|
probably null |
Het |
Ezh1 |
C |
T |
11: 101,106,084 (GRCm39) |
M100I |
probably benign |
Het |
Gcnt2 |
G |
A |
13: 41,041,549 (GRCm39) |
S236N |
probably benign |
Het |
H1f7 |
A |
C |
15: 98,154,262 (GRCm39) |
Y296D |
unknown |
Het |
Hmcn1 |
T |
A |
1: 150,459,031 (GRCm39) |
D5191V |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,365,415 (GRCm39) |
D4194E |
probably damaging |
Het |
Ncf2 |
C |
A |
1: 152,700,074 (GRCm39) |
T203K |
probably benign |
Het |
Or5a1 |
C |
A |
19: 12,097,921 (GRCm39) |
V40L |
probably benign |
Het |
Pate8 |
G |
A |
9: 36,492,662 (GRCm39) |
T81I |
probably benign |
Het |
Phf8 |
T |
A |
X: 150,333,871 (GRCm39) |
V113E |
probably damaging |
Het |
Pkm |
G |
T |
9: 59,577,805 (GRCm39) |
K207N |
probably damaging |
Het |
Slco1a6 |
G |
T |
6: 142,078,935 (GRCm39) |
S120* |
probably null |
Het |
Sox10 |
C |
T |
15: 79,040,473 (GRCm39) |
V195M |
possibly damaging |
Het |
Swt1 |
A |
G |
1: 151,297,855 (GRCm39) |
I24T |
probably benign |
Het |
Thada |
T |
C |
17: 84,754,072 (GRCm39) |
T300A |
probably benign |
Het |
Vmn2r17 |
T |
C |
5: 109,600,384 (GRCm39) |
Y561H |
probably 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 |
|
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 |
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 |
2014-01-21 |