Incidental Mutation 'RF049:Gabre'
| ID |
605119 |
| 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 # |
RF049 (G1)
|
| Quality Score |
141.467 |
|
Status
|
Not validated
|
| Chromosome |
X |
| Chromosomal Location |
71300532-71318433 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
CTCAGGCTGGGG to C
at 71313883 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 null
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: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3b |
GTAGGA |
G |
5: 26,053,486 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
CGGCGG |
CGGCGGAGGCGG |
18: 36,693,976 (GRCm39) |
|
probably benign |
Het |
| Begain |
GCGCCCCCGCC |
GCGCCCCCGCCCCCGCC |
12: 108,999,340 (GRCm39) |
|
probably benign |
Het |
| Cdx1 |
GGGGCTG |
GGGGCTGGGGCTG |
18: 61,152,938 (GRCm39) |
|
probably benign |
Het |
| Chga |
AGC |
AGCCGC |
12: 102,527,652 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
CAGCC |
CAGCCCTAGCC |
11: 101,080,418 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
C |
CCCAGCA |
11: 101,080,422 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
CCTGGTGT |
CCTGGTGTGGGGAGGCTACGTACTCACCCACTTCTGGTGT |
17: 23,981,145 (GRCm39) |
|
probably null |
Het |
| Hsdl2 |
AGCTGCAGGAGCAGCCACAGCTGCAGGAG |
AGCTGCAGGAGCCGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAG |
4: 59,610,633 (GRCm39) |
|
probably benign |
Het |
| Hsdl2 |
AG |
AGATGCAGCAGCAGCCACGG |
4: 59,610,651 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CACAGC |
CACAGCAACAGC |
1: 83,019,859 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CACAGC |
CACAGCCACAGCCACAACAGC |
1: 83,020,006 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
CTCCAGCTCCAGCTCCAGCTCCAG |
CTCCAGCTCCAGTTCCAGCTCCAGCTCCAGCTCCAG |
2: 181,339,367 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
GCA |
GCATCA |
X: 70,162,439 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
GCA |
GCATCA |
X: 70,162,451 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,390 (GRCm39) |
|
probably benign |
Het |
| Nefh |
ACTTGGCCTCAGCTGG |
ACTTGGCCTCAGCTGGAGCCTTGGCCTCAGCTGG |
11: 4,890,997 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
CACGTTAGCAGTGAGGAGCAAGCTGAGA |
CACGTTAGCAGTCAGGAGCAAGCTGAGATAGACGTTAGCAGTGAGGAGCAAGCTGAGA |
2: 119,458,064 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
ACTCATGGTCCTGTAGAGCAATGGGGATTC |
ACTCATGGTCCTGTAGAGCAATGGGGATTCTGCCTCGCTCATGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,772 (GRCm39) |
|
probably benign |
Het |
| Sfswap |
TCGGCCCACTCAGCCCACTCGGCC |
TCGGCCCACTCGGCCCACTCAGCCCACTCGGCC |
5: 129,646,808 (GRCm39) |
|
probably benign |
Het |
| Sirpa |
TCATCAG |
T |
2: 129,451,123 (GRCm39) |
|
probably null |
Het |
| Tanc1 |
GTGAGCAGAAACCAGCATTTAGAGGGAACCGGTCCCTTCACTGCAGGAA |
G |
2: 59,673,613 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
15: 72,673,150 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
CTGCTGCTGCTGCTG |
CTGCTGCTGCTGCTGATGCTGCTGCTGCTG |
15: 72,673,155 (GRCm39) |
|
probably benign |
Het |
| Triobp |
GACAA |
GACAACCCCAGGACTCCCTGTACCCAACGGAACAA |
15: 78,851,261 (GRCm39) |
|
probably benign |
Het |
| Tspan33 |
G |
GCTGT |
6: 29,709,997 (GRCm39) |
|
probably benign |
Het |
| Vmn1r74 |
CAGAGCCACCAAGTACCT |
C |
7: 11,581,067 (GRCm39) |
|
probably null |
Het |
| Zkscan4 |
AAAAA |
AAAAAA |
13: 21,668,881 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGACTGGGGCTCTGATTTC -3'
(R):5'- CTCAGCCTCAGCCTCTGG -3'
Sequencing Primer
(F):5'- GACTGGGGCTCTGATTTCATCTC -3'
(R):5'- ACCTGAGCCTCAGCCTGATC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation