Incidental Mutation 'IGL00844:Gabarapl1'
| ID |
12627 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gabarapl1
|
| Ensembl Gene |
ENSMUSG00000030161 |
| Gene Name |
GABA type A receptor associated protein like 1 |
| Synonyms |
Atg8l, 3110025G09Rik, Apg8l, 9130422N19Rik, GECI |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00844
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
129510155-129519294 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 129515598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 79
(F79L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145175
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032264]
[ENSMUST00000204487]
[ENSMUST00000204639]
[ENSMUST00000204956]
|
| AlphaFold |
Q8R3R8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032264
AA Change: F79L
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000032264
Gene: ENSMUSG00000030161
AA Change: F79L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Atg8
|
13 |
116 |
4.6e-52 |
PFAM |
|
Pfam:APG12
|
30 |
116 |
5.7e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203703
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204323
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204487
|
| SMART Domains |
Protein: ENSMUSP00000145078
Gene: ENSMUSG00000030161
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
89 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204639
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204956
AA Change: F79L
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000145175
Gene: ENSMUSG00000030161
AA Change: F79L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Atg8
|
13 |
116 |
4.6e-52 |
PFAM |
|
Pfam:APG12
|
30 |
116 |
5.7e-11 |
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 |
|---|
| 3425401B19Rik |
A |
T |
14: 32,384,956 (GRCm39) |
C336* |
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,688,238 (GRCm39) |
D994G |
probably damaging |
Het |
| Arhgap36 |
G |
T |
X: 48,586,631 (GRCm39) |
Q421H |
probably damaging |
Het |
| Arhgef17 |
A |
G |
7: 100,578,656 (GRCm39) |
V764A |
probably benign |
Het |
| Atf7ip |
T |
C |
6: 136,537,679 (GRCm39) |
V304A |
probably benign |
Het |
| Babam2 |
T |
A |
5: 32,164,651 (GRCm39) |
F299L |
probably damaging |
Het |
| Ceacam11 |
T |
G |
7: 17,707,595 (GRCm39) |
D126E |
possibly damaging |
Het |
| Dlg3 |
C |
A |
X: 99,850,199 (GRCm39) |
H197Q |
probably damaging |
Het |
| Dnmt3a |
T |
A |
12: 3,955,622 (GRCm39) |
L590Q |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,682,712 (GRCm39) |
|
probably benign |
Het |
| Gabbr2 |
A |
G |
4: 46,875,711 (GRCm39) |
V137A |
probably damaging |
Het |
| Gphn |
T |
C |
12: 78,711,342 (GRCm39) |
|
probably benign |
Het |
| Hnrnpr |
A |
G |
4: 136,066,516 (GRCm39) |
I399M |
probably benign |
Het |
| Madd |
A |
C |
2: 90,998,213 (GRCm39) |
S636A |
probably damaging |
Het |
| Pi15 |
T |
C |
1: 17,691,764 (GRCm39) |
|
probably benign |
Het |
| Ppp3cb |
A |
T |
14: 20,581,754 (GRCm39) |
M87K |
possibly damaging |
Het |
| Ptpro |
C |
A |
6: 137,391,237 (GRCm39) |
H786N |
probably damaging |
Het |
| Rnase11 |
T |
C |
14: 51,287,213 (GRCm39) |
I114V |
possibly damaging |
Het |
| Sirt4 |
A |
G |
5: 115,617,685 (GRCm39) |
|
probably null |
Het |
| Stab1 |
T |
C |
14: 30,869,023 (GRCm39) |
D1534G |
probably damaging |
Het |
| Sulf2 |
A |
G |
2: 165,936,412 (GRCm39) |
S185P |
possibly damaging |
Het |
| Svs6 |
A |
C |
2: 164,159,507 (GRCm39) |
K90T |
possibly damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,928,087 (GRCm39) |
M2102T |
probably benign |
Het |
| Ttll5 |
T |
C |
12: 85,890,600 (GRCm39) |
V77A |
probably damaging |
Het |
| Usp9x |
T |
G |
X: 12,994,685 (GRCm39) |
S959A |
probably benign |
Het |
| Vps50 |
C |
T |
6: 3,532,177 (GRCm39) |
Q227* |
probably null |
Het |
| Zfp57 |
C |
A |
17: 37,320,514 (GRCm39) |
Q120K |
possibly damaging |
Het |
| Zswim2 |
T |
C |
2: 83,754,115 (GRCm39) |
N182D |
probably benign |
Het |
|
| Other mutations in Gabarapl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0144:Gabarapl1
|
UTSW |
6 |
129,510,411 (GRCm39) |
start codon destroyed |
probably null |
0.97 |
|
R1186:Gabarapl1
|
UTSW |
6 |
129,510,368 (GRCm39) |
start gained |
probably benign |
|
|
R1459:Gabarapl1
|
UTSW |
6 |
129,515,635 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1764:Gabarapl1
|
UTSW |
6 |
129,510,481 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4056:Gabarapl1
|
UTSW |
6 |
129,515,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5936:Gabarapl1
|
UTSW |
6 |
129,515,566 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6336:Gabarapl1
|
UTSW |
6 |
129,514,491 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8405:Gabarapl1
|
UTSW |
6 |
129,514,497 (GRCm39) |
missense |
probably null |
0.97 |
|
Z1177:Gabarapl1
|
UTSW |
6 |
129,518,184 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation