Incidental Mutation 'IGL02176:Gabre'
| ID |
283112 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gabre
|
| Ensembl Gene |
ENSMUSG00000031340 |
| Gene Name |
gamma-aminobutyric acid (GABA) A receptor, subunit epsilon |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
IGL02176
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
71300532-71318433 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 71318259 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 17
(Q17*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064780]
|
| AlphaFold |
A2AMW3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000064780
AA Change: Q17*
|
| SMART Domains |
Protein: ENSMUSP00000066543
Gene: ENSMUSG00000031340
AA Change: Q17*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
234 |
441 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
482 |
688 |
1.4e-47 |
PFAM |
|
Pfam:Neur_chan_memb
|
695 |
856 |
2.1e-23 |
PFAM |
|
transmembrane domain
|
892 |
914 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148499
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153740
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
G |
T |
10: 20,846,815 (GRCm39) |
R415L |
probably benign |
Het |
| Ankle1 |
C |
A |
8: 71,858,903 (GRCm39) |
H45Q |
probably damaging |
Het |
| Anks1b |
A |
T |
10: 89,878,530 (GRCm39) |
H113L |
probably damaging |
Het |
| Arhgap33 |
T |
A |
7: 30,223,476 (GRCm39) |
H851L |
possibly damaging |
Het |
| Atp12a |
C |
T |
14: 56,624,636 (GRCm39) |
S972L |
probably damaging |
Het |
| Atrip |
T |
C |
9: 108,896,114 (GRCm39) |
D301G |
probably benign |
Het |
| Bckdk |
A |
G |
7: 127,505,545 (GRCm39) |
T223A |
probably benign |
Het |
| C3 |
C |
A |
17: 57,533,337 (GRCm39) |
|
probably benign |
Het |
| C8g |
A |
G |
2: 25,389,122 (GRCm39) |
S154P |
probably damaging |
Het |
| Casz1 |
A |
G |
4: 149,019,076 (GRCm39) |
D459G |
probably damaging |
Het |
| Cdca7 |
A |
G |
2: 72,314,988 (GRCm39) |
T293A |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,226,658 (GRCm39) |
D2810V |
probably damaging |
Het |
| CN725425 |
G |
A |
15: 91,130,024 (GRCm39) |
V296I |
probably benign |
Het |
| Col17a1 |
A |
G |
19: 47,639,658 (GRCm39) |
M1077T |
probably benign |
Het |
| Ddhd1 |
A |
T |
14: 45,854,057 (GRCm39) |
H426Q |
probably damaging |
Het |
| Dpp6 |
C |
T |
5: 27,928,575 (GRCm39) |
T799M |
probably damaging |
Het |
| Efs |
C |
T |
14: 55,158,499 (GRCm39) |
G53D |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,890,371 (GRCm39) |
V221A |
probably benign |
Het |
| Gpld1 |
T |
C |
13: 25,168,192 (GRCm39) |
|
probably null |
Het |
| Gpr107 |
T |
A |
2: 31,058,858 (GRCm39) |
V116D |
probably benign |
Het |
| Huwe1 |
T |
C |
X: 150,686,964 (GRCm39) |
S2283P |
possibly damaging |
Het |
| Ksr1 |
A |
G |
11: 78,911,617 (GRCm39) |
S722P |
probably benign |
Het |
| Lmbrd2 |
A |
G |
15: 9,182,661 (GRCm39) |
E532G |
probably damaging |
Het |
| Lrfn1 |
T |
C |
7: 28,158,111 (GRCm39) |
|
probably benign |
Het |
| Lrrc4c |
A |
G |
2: 97,460,598 (GRCm39) |
D408G |
probably damaging |
Het |
| Mbp |
A |
G |
18: 82,572,670 (GRCm39) |
E122G |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,777,836 (GRCm39) |
D1197E |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,220,485 (GRCm39) |
|
probably benign |
Het |
| Or2y17 |
A |
G |
11: 49,232,133 (GRCm39) |
Y258C |
probably benign |
Het |
| Pdcd1lg2 |
A |
G |
19: 29,414,732 (GRCm39) |
E53G |
probably benign |
Het |
| Phex |
G |
T |
X: 156,051,489 (GRCm39) |
A469E |
probably damaging |
Het |
| Pigo |
A |
G |
4: 43,019,352 (GRCm39) |
S957P |
probably benign |
Het |
| Ppargc1b |
T |
A |
18: 61,443,946 (GRCm39) |
R406* |
probably null |
Het |
| Ppargc1b |
C |
A |
18: 61,443,945 (GRCm39) |
R422I |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Thnsl1 |
G |
T |
2: 21,216,665 (GRCm39) |
A140S |
possibly damaging |
Het |
| Tm9sf3 |
A |
G |
19: 41,235,076 (GRCm39) |
|
probably benign |
Het |
| Tma7 |
T |
A |
9: 108,911,153 (GRCm39) |
|
probably benign |
Het |
| Tmtc2 |
T |
G |
10: 105,184,354 (GRCm39) |
S514R |
probably benign |
Het |
| Unc79 |
G |
A |
12: 102,965,006 (GRCm39) |
|
probably null |
Het |
| Wdr89 |
A |
T |
12: 75,679,897 (GRCm39) |
I119N |
probably damaging |
Het |
| Wiz |
C |
A |
17: 32,575,876 (GRCm39) |
R843S |
probably damaging |
Het |
| Zfp275 |
T |
A |
X: 72,396,889 (GRCm39) |
S12T |
probably damaging |
Het |
|
| Other mutations in Gabre |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
FR4304:Gabre
|
UTSW |
X |
71,313,648 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Gabre
|
UTSW |
X |
71,313,648 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Gabre
|
UTSW |
X |
71,313,636 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Gabre
|
UTSW |
X |
71,314,028 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Gabre
|
UTSW |
X |
71,314,024 (GRCm39) |
small insertion |
probably benign |
|
|
R7620:Gabre
|
UTSW |
X |
71,313,865 (GRCm39) |
missense |
unknown |
|
|
RF002:Gabre
|
UTSW |
X |
71,313,663 (GRCm39) |
nonsense |
probably null |
|
|
RF005:Gabre
|
UTSW |
X |
71,313,651 (GRCm39) |
nonsense |
probably null |
|
|
RF009:Gabre
|
UTSW |
X |
71,314,319 (GRCm39) |
small insertion |
probably benign |
|
|
RF009:Gabre
|
UTSW |
X |
71,314,318 (GRCm39) |
small deletion |
probably benign |
|
|
RF010:Gabre
|
UTSW |
X |
71,313,666 (GRCm39) |
small insertion |
probably benign |
|
|
RF013:Gabre
|
UTSW |
X |
71,314,022 (GRCm39) |
small insertion |
probably benign |
|
|
RF023:Gabre
|
UTSW |
X |
71,313,660 (GRCm39) |
small insertion |
probably benign |
|
|
RF024:Gabre
|
UTSW |
X |
71,313,783 (GRCm39) |
frame shift |
probably null |
|
|
RF028:Gabre
|
UTSW |
X |
71,314,369 (GRCm39) |
small insertion |
probably benign |
|
|
RF029:Gabre
|
UTSW |
X |
71,313,665 (GRCm39) |
small insertion |
probably benign |
|
|
RF034:Gabre
|
UTSW |
X |
71,314,368 (GRCm39) |
small insertion |
probably benign |
|
|
RF037:Gabre
|
UTSW |
X |
71,313,667 (GRCm39) |
small insertion |
probably benign |
|
|
RF041:Gabre
|
UTSW |
X |
71,313,655 (GRCm39) |
small insertion |
probably benign |
|
|
RF042:Gabre
|
UTSW |
X |
71,313,653 (GRCm39) |
small insertion |
probably benign |
|
|
RF043:Gabre
|
UTSW |
X |
71,313,654 (GRCm39) |
small insertion |
probably benign |
|
|
RF044:Gabre
|
UTSW |
X |
71,313,667 (GRCm39) |
small insertion |
probably benign |
|
|
RF045:Gabre
|
UTSW |
X |
71,313,787 (GRCm39) |
frame shift |
probably null |
|
|
RF045:Gabre
|
UTSW |
X |
71,313,651 (GRCm39) |
small insertion |
probably benign |
|
|
RF047:Gabre
|
UTSW |
X |
71,314,371 (GRCm39) |
nonsense |
probably null |
|
|
RF047:Gabre
|
UTSW |
X |
71,313,659 (GRCm39) |
small insertion |
probably benign |
|
|
RF049:Gabre
|
UTSW |
X |
71,313,883 (GRCm39) |
frame shift |
probably null |
|
|
RF050:Gabre
|
UTSW |
X |
71,314,347 (GRCm39) |
nonsense |
probably null |
|
|
RF051:Gabre
|
UTSW |
X |
71,313,655 (GRCm39) |
small insertion |
probably benign |
|
|
RF052:Gabre
|
UTSW |
X |
71,313,653 (GRCm39) |
small insertion |
probably benign |
|
|
RF054:Gabre
|
UTSW |
X |
71,314,022 (GRCm39) |
small insertion |
probably benign |
|
|
RF055:Gabre
|
UTSW |
X |
71,313,783 (GRCm39) |
frame shift |
probably null |
|
|
RF058:Gabre
|
UTSW |
X |
71,313,669 (GRCm39) |
small insertion |
probably benign |
|
|
RF059:Gabre
|
UTSW |
X |
71,314,370 (GRCm39) |
small insertion |
probably benign |
|
|
RF061:Gabre
|
UTSW |
X |
71,313,654 (GRCm39) |
small insertion |
probably benign |
|
|
RF064:Gabre
|
UTSW |
X |
71,313,777 (GRCm39) |
frame shift |
probably null |
|
|
RF064:Gabre
|
UTSW |
X |
71,313,669 (GRCm39) |
nonsense |
probably null |
|
|
X0018:Gabre
|
UTSW |
X |
71,313,944 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation