Incidental Mutation 'IGL01801:Gabra6'
| ID |
155528 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gabra6
|
| Ensembl Gene |
ENSMUSG00000020428 |
| Gene Name |
gamma-aminobutyric acid type A receptor subunit alpha 6 |
| Synonyms |
alpha6, GABA-ARalpha6, Gabra-6 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01801
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
42197264-42211899 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 42205935 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Arginine
at position 307
(I307R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126114
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020703]
[ENSMUST00000109286]
[ENSMUST00000155218]
|
| AlphaFold |
P16305 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020703
AA Change: I297R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020703
Gene: ENSMUSG00000020428
AA Change: I297R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
32 |
230 |
2.4e-43 |
PFAM |
|
Pfam:Neur_chan_memb
|
237 |
378 |
9.3e-43 |
PFAM |
|
transmembrane domain
|
413 |
430 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109286
AA Change: I306R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104909
Gene: ENSMUSG00000020428
AA Change: I306R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neur_chan_LBD
|
31 |
239 |
2.4e-53 |
PFAM |
|
Pfam:Neur_chan_memb
|
246 |
387 |
9.7e-43 |
PFAM |
|
transmembrane domain
|
422 |
439 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155218
AA Change: I307R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126114
Gene: ENSMUSG00000020428
AA Change: I307R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
32 |
240 |
2e-51 |
PFAM |
|
Pfam:Neur_chan_memb
|
247 |
393 |
6.3e-35 |
PFAM |
|
transmembrane domain
|
423 |
440 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile with normal cerebellar cytoarchitecture and normal responses to ethanol, pentobarbital and general anesthetics. Mice homozygous for a reporter allele are behaviorally normal and lack a cochlear phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932415M13Rik |
C |
T |
17: 54,031,870 (GRCm39) |
|
noncoding transcript |
Het |
| Acsm4 |
C |
T |
7: 119,306,486 (GRCm39) |
T308I |
possibly damaging |
Het |
| Adamtsl1 |
A |
G |
4: 86,117,559 (GRCm39) |
N174S |
probably benign |
Het |
| Atp1b1 |
C |
T |
1: 164,265,918 (GRCm39) |
G281D |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,347,086 (GRCm39) |
N1027S |
probably null |
Het |
| Cacnb4 |
A |
T |
2: 52,324,723 (GRCm39) |
N446K |
probably benign |
Het |
| Cfap210 |
A |
T |
2: 69,606,623 (GRCm39) |
|
probably benign |
Het |
| Col13a1 |
T |
C |
10: 61,679,393 (GRCm39) |
D215G |
probably damaging |
Het |
| Cyp2d22 |
T |
C |
15: 82,257,046 (GRCm39) |
T312A |
probably benign |
Het |
| Cyp4f40 |
A |
T |
17: 32,895,279 (GRCm39) |
N467I |
probably damaging |
Het |
| Dnaaf10 |
T |
C |
11: 17,169,015 (GRCm39) |
I62T |
probably benign |
Het |
| Ehd4 |
A |
T |
2: 119,932,822 (GRCm39) |
D201E |
probably damaging |
Het |
| Farsb |
T |
C |
1: 78,435,216 (GRCm39) |
T444A |
probably benign |
Het |
| Impg2 |
G |
A |
16: 56,057,111 (GRCm39) |
R287H |
probably damaging |
Het |
| Khdrbs1 |
A |
G |
4: 129,635,574 (GRCm39) |
V127A |
probably benign |
Het |
| Lcp1 |
A |
T |
14: 75,436,815 (GRCm39) |
T54S |
probably benign |
Het |
| Mrgpra6 |
T |
C |
7: 46,835,572 (GRCm39) |
D283G |
possibly damaging |
Het |
| Mterf4 |
T |
C |
1: 93,232,642 (GRCm39) |
R70G |
probably benign |
Het |
| Mtmr12 |
T |
C |
15: 12,270,045 (GRCm39) |
L711P |
probably damaging |
Het |
| Or4n4 |
A |
G |
14: 50,519,665 (GRCm39) |
I15T |
probably benign |
Het |
| Pax8 |
A |
G |
2: 24,334,576 (GRCm39) |
|
probably null |
Het |
| Prmt9 |
T |
C |
8: 78,289,069 (GRCm39) |
V257A |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,434,072 (GRCm39) |
V959A |
probably damaging |
Het |
| Vps54 |
T |
C |
11: 21,225,131 (GRCm39) |
|
probably null |
Het |
| Wdr70 |
C |
T |
15: 7,916,805 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Gabra6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Gabra6
|
APN |
11 |
42,207,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01553:Gabra6
|
APN |
11 |
42,206,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02474:Gabra6
|
APN |
11 |
42,198,244 (GRCm39) |
missense |
probably benign |
|
|
IGL03027:Gabra6
|
APN |
11 |
42,205,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03111:Gabra6
|
APN |
11 |
42,207,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0121:Gabra6
|
UTSW |
11 |
42,205,798 (GRCm39) |
missense |
probably benign |
|
|
R0206:Gabra6
|
UTSW |
11 |
42,207,906 (GRCm39) |
nonsense |
probably null |
|
|
R0240:Gabra6
|
UTSW |
11 |
42,205,774 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0726:Gabra6
|
UTSW |
11 |
42,205,954 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0745:Gabra6
|
UTSW |
11 |
42,207,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0751:Gabra6
|
UTSW |
11 |
42,205,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0789:Gabra6
|
UTSW |
11 |
42,205,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1666:Gabra6
|
UTSW |
11 |
42,208,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1754:Gabra6
|
UTSW |
11 |
42,207,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2317:Gabra6
|
UTSW |
11 |
42,208,607 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3605:Gabra6
|
UTSW |
11 |
42,205,777 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4647:Gabra6
|
UTSW |
11 |
42,198,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5566:Gabra6
|
UTSW |
11 |
42,198,317 (GRCm39) |
missense |
probably benign |
|
|
R5929:Gabra6
|
UTSW |
11 |
42,208,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5930:Gabra6
|
UTSW |
11 |
42,198,268 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5931:Gabra6
|
UTSW |
11 |
42,198,268 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6155:Gabra6
|
UTSW |
11 |
42,207,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7249:Gabra6
|
UTSW |
11 |
42,208,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7759:Gabra6
|
UTSW |
11 |
42,208,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7783:Gabra6
|
UTSW |
11 |
42,207,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7794:Gabra6
|
UTSW |
11 |
42,211,868 (GRCm39) |
splice site |
probably null |
|
|
R7869:Gabra6
|
UTSW |
11 |
42,207,322 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7949:Gabra6
|
UTSW |
11 |
42,207,826 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8199:Gabra6
|
UTSW |
11 |
42,207,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8692:Gabra6
|
UTSW |
11 |
42,210,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8954:Gabra6
|
UTSW |
11 |
42,205,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9076:Gabra6
|
UTSW |
11 |
42,198,289 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation