Incidental Mutation 'IGL01069:Gadl1'
| ID |
51867 |
| 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 # |
IGL01069
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
115713947-115905243 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 115783907 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000069651
|
| SMART Domains |
Protein: ENSMUSP00000077694
Gene: ENSMUSG00000056880
| 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 null
Transcript: ENSMUST00000119291
|
| SMART Domains |
Protein: ENSMUSP00000112433
Gene: ENSMUSG00000056880
| 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 null
Transcript: ENSMUST00000121770
|
| SMART Domains |
Protein: ENSMUSP00000113240
Gene: ENSMUSG00000056880
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| 1700123K08Rik |
C |
T |
5: 138,560,751 (GRCm39) |
A215T |
probably benign |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Apc2 |
G |
A |
10: 80,147,820 (GRCm39) |
C929Y |
probably damaging |
Het |
| Arap2 |
T |
C |
5: 62,807,199 (GRCm39) |
H1156R |
probably benign |
Het |
| Arhgap9 |
A |
G |
10: 127,164,821 (GRCm39) |
T582A |
probably damaging |
Het |
| Ccdc57 |
T |
A |
11: 120,752,085 (GRCm39) |
H832L |
probably benign |
Het |
| Ces3b |
T |
C |
8: 105,818,206 (GRCm39) |
S92P |
probably benign |
Het |
| Ces5a |
A |
G |
8: 94,252,172 (GRCm39) |
|
probably null |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cpb2 |
T |
A |
14: 75,508,215 (GRCm39) |
D225E |
probably damaging |
Het |
| Cpne8 |
C |
T |
15: 90,499,313 (GRCm39) |
|
probably null |
Het |
| Cux2 |
G |
A |
5: 122,005,414 (GRCm39) |
T924M |
possibly damaging |
Het |
| Dtl |
T |
A |
1: 191,293,651 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
A |
6: 84,176,767 (GRCm39) |
I1912N |
possibly damaging |
Het |
| Edc4 |
T |
A |
8: 106,613,766 (GRCm39) |
F369I |
probably benign |
Het |
| Fibcd1 |
T |
C |
2: 31,711,531 (GRCm39) |
E298G |
probably benign |
Het |
| Focad |
C |
A |
4: 88,244,383 (GRCm39) |
H788N |
unknown |
Het |
| Frem1 |
C |
T |
4: 82,932,104 (GRCm39) |
R199H |
probably benign |
Het |
| Hipk1 |
G |
A |
3: 103,685,015 (GRCm39) |
T200I |
possibly damaging |
Het |
| Ighv14-2 |
C |
T |
12: 113,958,379 (GRCm39) |
V21I |
possibly damaging |
Het |
| Kank4 |
A |
T |
4: 98,666,632 (GRCm39) |
I605N |
probably damaging |
Het |
| Krt88 |
T |
G |
15: 101,351,508 (GRCm39) |
*172G |
probably null |
Het |
| Lmf2 |
C |
A |
15: 89,237,091 (GRCm39) |
A408S |
probably benign |
Het |
| Lsm12 |
T |
C |
11: 102,054,896 (GRCm39) |
|
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,075,735 (GRCm39) |
I580V |
probably benign |
Het |
| Myt1 |
T |
C |
2: 181,467,749 (GRCm39) |
M1061T |
probably damaging |
Het |
| Nup133 |
G |
A |
8: 124,657,721 (GRCm39) |
R405* |
probably null |
Het |
| Or1ad1 |
A |
T |
11: 50,875,830 (GRCm39) |
I101F |
possibly damaging |
Het |
| Or5m3 |
A |
G |
2: 85,838,891 (GRCm39) |
Y257C |
probably damaging |
Het |
| Or8g2 |
A |
T |
9: 39,821,902 (GRCm39) |
M268L |
possibly damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,964,918 (GRCm39) |
R362G |
probably benign |
Het |
| Pomt2 |
G |
T |
12: 87,157,078 (GRCm39) |
T747K |
probably damaging |
Het |
| Rgma |
G |
A |
7: 73,067,239 (GRCm39) |
A165T |
probably damaging |
Het |
| Rhbdf2 |
T |
C |
11: 116,492,577 (GRCm39) |
D437G |
possibly damaging |
Het |
| Rpl5 |
T |
C |
5: 108,055,145 (GRCm39) |
|
probably null |
Het |
| Rtkn2 |
A |
G |
10: 67,877,494 (GRCm39) |
D518G |
probably benign |
Het |
| Sclt1 |
T |
C |
3: 41,696,426 (GRCm39) |
|
probably benign |
Het |
| Sidt2 |
C |
T |
9: 45,854,375 (GRCm39) |
V616I |
possibly damaging |
Het |
| Ska2 |
A |
G |
11: 87,000,091 (GRCm39) |
|
probably benign |
Het |
| Slc13a4 |
C |
A |
6: 35,245,817 (GRCm39) |
L609F |
probably damaging |
Het |
| Sorbs3 |
T |
C |
14: 70,428,604 (GRCm39) |
E390G |
probably damaging |
Het |
| Syt15 |
T |
C |
14: 33,946,881 (GRCm39) |
V220A |
possibly damaging |
Het |
| Tob1 |
T |
C |
11: 94,104,881 (GRCm39) |
F139S |
probably damaging |
Het |
| Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
Het |
|
| Other mutations in Gadl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation