Incidental Mutation 'RF058:Gabre'
| ID |
605342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gabre
|
| Ensembl Gene |
ENSMUSG00000031340 |
| Gene Name |
gamma-aminobutyric acid (GABA) A receptor, subunit epsilon |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
RF058 (G1)
|
| Quality Score |
214.461 |
|
Status
|
Not validated
|
| Chromosome |
X |
| Chromosomal Location |
71300532-71318433 bp(-) (GRCm39) |
| Type of Mutation |
small insertion (2 aa in frame mutation) |
| DNA Base Change (assembly) |
C to CCGGCTG
at 71313669 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064780]
|
| AlphaFold |
A2AMW3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064780
|
| SMART Domains |
Protein: ENSMUSP00000066543
Gene: ENSMUSG00000031340
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110021N24Rik |
GAGCGCGGCC |
G |
4: 108,637,826 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
AAGGAAAAGGTGGCCAG |
AAGGAAAAGGTGGCCAGCAAAAACAGAGAGGAAAAGGTGGCCAG |
6: 131,529,850 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
CAG |
CAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,864 (GRCm39) |
|
probably benign |
Het |
| Alg9 |
GGC |
GGCTGC |
9: 50,686,727 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
CGGGGG |
CGGGGGGGG |
17: 5,045,858 (GRCm39) |
|
probably benign |
Het |
| Chd4 |
GC |
GCTCCCTC |
6: 125,099,094 (GRCm39) |
|
probably benign |
Het |
| Chga |
CAG |
CAGAAG |
12: 102,527,675 (GRCm39) |
|
probably benign |
Het |
| Cort |
GCCCACTCGT |
G |
4: 149,209,869 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
GT |
GTGGGGAGGCTACGTGCTCACCCGCTCCTGGTAT |
17: 23,981,151 (GRCm39) |
|
probably null |
Het |
| Gab3 |
TCT |
TCTACT |
X: 74,043,608 (GRCm39) |
|
probably benign |
Het |
| Haus4 |
CACTTAAAAAAAAAA |
CA |
14: 54,787,492 (GRCm39) |
|
probably benign |
Het |
| Il2 |
AG |
AGGGCTTGAAGTGG |
3: 37,179,966 (GRCm39) |
|
probably benign |
Het |
| Il2 |
CTTGAAGTGG |
CTTGAAGTGGGGATTGAAGTGG |
3: 37,179,970 (GRCm39) |
|
probably benign |
Het |
| Kri1 |
TCCTCCTCC |
TC |
9: 21,192,362 (GRCm39) |
|
probably null |
Het |
| Krtap28-10 |
ACAGCCACCACAGCCACAGCCACCACAGC |
ACAGCCACCACAGCCCCAGCCACCACAGCCACAGCCACCACAGC |
1: 83,019,983 (GRCm39) |
|
probably benign |
Het |
| Mbd1 |
CGTCTTCGTCTGCATCTGCATCTGCA |
C |
18: 74,406,680 (GRCm39) |
|
probably null |
Het |
| Nefh |
CCTC |
CCTCGCCTGGGGACTTGGACTC |
11: 4,891,021 (GRCm39) |
|
probably benign |
Het |
| Rtbdn |
GCAGCG |
GCAGCGACAGCG |
8: 85,682,801 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
GTGGTGGT |
GTGGTGGTATTGGTGGT |
7: 127,384,490 (GRCm39) |
|
probably benign |
Het |
| Treml1 |
ACCT |
A |
17: 48,666,975 (GRCm39) |
|
probably null |
Het |
| Triobp |
CTCCCTGTGCCCAAC |
CTCCCTGTGCCCAACTGAACAACCCCAGGATTCCCTGTGCCCAAC |
15: 78,851,244 (GRCm39) |
|
probably benign |
Het |
| Zfp598 |
CCCACCACCACAACCACCACCACCACCACCAC |
CCCACCACCACCACCACAACCACCACCACCACCACCAC |
17: 24,899,735 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gabre |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02176:Gabre
|
APN |
X |
71,318,259 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGGACTGGGGCTCTGA -3'
(R):5'- CTCAGCCTCAGCCTCTGG -3'
Sequencing Primer
(F):5'- ACTGGGGCTCTGATTTCATC -3'
(R):5'- TCAGCCTGAGCCACAGC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation