Incidental Mutation 'RF061:Gabre'
| ID |
605427 |
| 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 # |
RF061 (G1)
|
| Quality Score |
214.544 |
|
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) |
GCTCCG to GCTCCGACTCCG
at 71313654 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
ACTT |
ACTTACTT |
8: 125,566,570 (GRCm39) |
|
probably null |
Het |
| Abi3bp |
GCCCACGACCC |
GCCCACGACCCACGACCC |
16: 56,447,950 (GRCm39) |
|
probably null |
Het |
| Ankhd1 |
GGCGGC |
GGCGGCCGCGGC |
18: 36,693,974 (GRCm39) |
|
probably benign |
Het |
| Ankrd24 |
GAGGC |
GAGGCGGAGGCATAGGC |
10: 81,479,401 (GRCm39) |
|
probably null |
Het |
| Bpifb4 |
A |
ACCTCCAC |
2: 153,799,048 (GRCm39) |
|
probably benign |
Het |
| Chga |
CAG |
CAGAAG |
12: 102,527,672 (GRCm39) |
|
probably benign |
Het |
| Chga |
G |
GCAC |
12: 102,527,686 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
ACACTGCCCAGGGA |
ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGA |
9: 86,922,488 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
CAGTTCCTACCTCGTT |
CAGTTCCTACCTCGTTTTGGGGGCGGAGCAAAGTTCCTACCTCGTT |
9: 20,821,426 (GRCm39) |
|
probably null |
Het |
| Fbrsl1 |
GTGCTGGTGCGT |
GTGCTGGTGCGTCTGCTGGTGCGT |
5: 110,525,997 (GRCm39) |
|
probably benign |
Het |
| Hsdl2 |
AG |
AGCAGCAGCCACAGCTGCTG |
4: 59,610,657 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GGG |
GGGGCTTGAAGTGGG |
3: 37,179,990 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CCACCACAGC |
CCACCACAGCCACAGACACCACAGC |
1: 83,020,002 (GRCm39) |
|
probably benign |
Het |
| Lrch1 |
GCTGGTGGT |
G |
14: 75,184,995 (GRCm39) |
|
probably null |
Het |
| Lrch1 |
GGTGGTGTTG |
GG |
14: 75,185,007 (GRCm39) |
|
probably null |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,456 (GRCm39) |
|
probably benign |
Het |
| Map1a |
TGGCTCCAGCTCCAGCTCCAGCTCCAGCTCC |
TGGCTCCAGCTCCAGCTCCAGCTCCAGCTCCGGCTCCAGCTCCAGCTCCAGCTCCAGCTCC |
2: 121,136,768 (GRCm39) |
|
probably benign |
Het |
| Or10n7-ps1 |
GA |
GATATA |
9: 39,598,049 (GRCm39) |
|
probably null |
Het |
| Pdcd11 |
AGGAGGAGG |
AG |
19: 47,101,884 (GRCm39) |
|
probably null |
Het |
| Pknox2 |
ACACACACACACACACTCAC |
ACAC |
9: 36,820,905 (GRCm39) |
|
probably benign |
Het |
| Rfx5 |
A |
T |
3: 94,863,070 (GRCm39) |
K54I |
probably damaging |
Het |
| Rps19 |
AAAAAAT |
AAAAAATAAAAAT |
7: 24,588,605 (GRCm39) |
|
probably benign |
Het |
| Rragd |
CATGCCTTTCATTCTA |
C |
4: 32,995,150 (GRCm39) |
|
probably benign |
Het |
| Sbp |
GACAACA |
GACAACACAGATGCTAACAACA |
17: 24,164,351 (GRCm39) |
|
probably benign |
Het |
| Stab2 |
CTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
10: 86,702,622 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
CAG |
CAGGAG |
17: 48,097,017 (GRCm39) |
|
probably benign |
Het |
| Trim33 |
GGCCCCCGC |
GGC |
3: 103,187,533 (GRCm39) |
|
probably benign |
Het |
| Zfp598 |
ACAACCAC |
ACAACCACAACCAC |
17: 24,899,744 (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 |
|
|
RF058:Gabre
|
UTSW |
X |
71,313,669 (GRCm39) |
small insertion |
probably benign |
|
|
RF059:Gabre
|
UTSW |
X |
71,314,370 (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'- GGGACTGGGGCTCTGATTTCA -3'
(R):5'- AACCTCAGCCTCAGCCTCTG -3'
Sequencing Primer
(F):5'- ACTGGGGCTCTGATTTCATCTCTG -3'
(R):5'- TCAGCCTGAGCCACAGC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation