Incidental Mutation 'RF045:Gabre'
ID |
605011 |
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 # |
RF045 (G1)
|
Quality Score |
214.458 |
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) |
CCGGCT to CCGGCTGCGGCT
at 71313651 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: 99.4%
- 20x: 98.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AI837181 |
GCG |
GCGCCG |
19: 5,475,246 (GRCm39) |
|
probably benign |
Het |
Arid1b |
CGGGGG |
CGGGGGGGG |
17: 5,045,858 (GRCm39) |
|
probably benign |
Het |
Cdsn |
CAGC |
CAGCAGCTCTCAGTCAGGAAGTAGC |
17: 35,865,865 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
ATGT |
ATGTGAGACACACTGCCCAGGGATGTGT |
9: 86,922,455 (GRCm39) |
|
probably null |
Het |
Cyb5r4 |
GA |
GATGTGACAGACACACTGCCCAGGAA |
9: 86,922,500 (GRCm39) |
|
probably benign |
Het |
Cyp4a12b |
C |
T |
4: 115,289,690 (GRCm39) |
H186Y |
probably benign |
Het |
Dbr1 |
AAGAGGA |
AAGAGGAAGAGGA |
9: 99,465,724 (GRCm39) |
|
probably benign |
Het |
Dnmt1 |
ACAGTTCCTACCTCGTT |
ACAGTTCCTACCTCGTTTTGGGCGCGGAGCCCAGTTCCTACCTCGTT |
9: 20,821,425 (GRCm39) |
|
probably null |
Het |
Dnmt1 |
TACCTCGTT |
TACCTCGTTTTGGGGGCGGAGCACAGTTCCCACCTCGTT |
9: 20,821,433 (GRCm39) |
|
probably benign |
Het |
Ecrg4 |
TTCTGTA |
T |
1: 43,776,352 (GRCm39) |
|
probably benign |
Het |
Garin5a |
GGAGGA |
GGAGGAAGGCTGGATCCTGGATACCTGGGTCTGAGTGAGGA |
7: 44,149,956 (GRCm39) |
|
probably null |
Het |
Iqcf4 |
TTCCTTTTCCTTTT |
TTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTATCCTTTTCCTTTT |
9: 106,447,809 (GRCm39) |
|
probably benign |
Het |
Kcnq3 |
CCGCCAGCCGC |
CC |
15: 66,158,033 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
CCACAG |
CCACAGTCACAG |
1: 83,019,864 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
CACAGCCACCACAGCCACAGCCACCACAGC |
CACAGCCACCACAGCAACAGCCACCACAGCCACAGCCACCACAGC |
1: 83,019,982 (GRCm39) |
|
probably benign |
Het |
Lce1m |
TGCTGCC |
TGCTGCCCCCGCCGCTGCC |
3: 92,925,599 (GRCm39) |
|
probably benign |
Het |
Map1a |
CAGCTCCAGCTCCAGCTCC |
CAGCTCCAGCTCCAGCTCCCGCTCCAGCTCTAGCTCCAGCTCCAGCTCC |
2: 121,136,774 (GRCm39) |
|
probably benign |
Het |
Ncapd2 |
ACT |
ACTACACGCCGTCAGAGCACCGTGTTCTGTCACATCCT |
6: 125,156,199 (GRCm39) |
|
probably null |
Het |
Neu1 |
TCTTCTA |
T |
17: 35,151,534 (GRCm39) |
|
probably benign |
Het |
Ntn4 |
G |
T |
10: 93,546,487 (GRCm39) |
R380L |
possibly damaging |
Het |
Nusap1 |
A |
ATACACGTTAGCAGTGAGGAGCAAGCTGAGG |
2: 119,458,091 (GRCm39) |
|
probably benign |
Het |
Plxnc1 |
C |
T |
10: 94,700,869 (GRCm39) |
C605Y |
probably damaging |
Het |
Ptms |
CTCCTC |
CTCCTCCTC |
6: 124,891,413 (GRCm39) |
|
probably benign |
Het |
Snx1 |
CTGTT |
CTGTTGTT |
9: 66,012,204 (GRCm39) |
|
probably benign |
Het |
Strn |
CCCAGTC |
CCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACACCAGTC |
17: 78,984,711 (GRCm39) |
|
probably null |
Het |
Supt20 |
GCAGCA |
GCAGCATCAGCA |
3: 54,635,087 (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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GACTGGGGCTCTGATTTCAT -3'
(R):5'- GAACCTCAGCCTCAGCCTC -3'
Sequencing Primer
(F):5'- ACTGGGGCTCTGATTTCATCTCTG -3'
(R):5'- TCAGCCTGAGCCACAGC -3'
|
Posted On |
2019-12-04 |