Incidental Mutation 'RF042:Gabre'
| ID |
604896 |
| 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 # |
RF042 (G1)
|
| Quality Score |
214.671 |
|
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) |
GGCTCC to GGCTCCTGCTCC
at 71313653 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: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
AAAGGAAAAGGTGGCCAG |
AAAGGAAAAGGTGGCCAGCAAAAACAGGAAGGAAAAGGTGGCCAG |
6: 131,529,849 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
GCTGCTG |
GCTGCTGTGACTGCTG |
1: 82,891,305 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
CG |
CGGTG |
19: 5,475,265 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
GGC |
GGCTGC |
19: 5,475,245 (GRCm39) |
|
probably benign |
Het |
| Anapc2 |
GCGGCGGCGGCGAC |
GC |
2: 25,162,573 (GRCm39) |
|
probably benign |
Het |
| Cgnl1 |
AGCG |
AGCGGCG |
9: 71,631,997 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
TTT |
TTTTGTT |
11: 101,071,131 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
TTCTC |
TTC |
17: 46,851,541 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
GGGGCGGAGCACAGTTCCTACCTCGTT |
GGGGCGGAGCACAGTTCCTACCTCGTTTTGTGGGCGGAGCACAGTTCCTACCTCGTT |
9: 20,821,415 (GRCm39) |
|
probably null |
Het |
| Frem3 |
GATC |
GATCATC |
8: 81,341,867 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTACT |
X: 74,043,611 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TTC |
TTCGTC |
X: 74,043,628 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
TGTG |
TGTGAGTG |
19: 11,489,137 (GRCm39) |
|
probably null |
Het |
| Gm8369 |
GTGTGT |
GTGTGTTTGTGT |
19: 11,489,142 (GRCm39) |
|
probably benign |
Het |
| Gykl1 |
G |
A |
18: 52,827,488 (GRCm39) |
R232Q |
probably benign |
Het |
| Igkv12-89 |
G |
GCAACGCCAT |
6: 68,812,270 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
TCCTTTTCCTTTTCCTTTT |
TCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTGCCTTTTCCTTTTCCTTTT |
9: 106,447,804 (GRCm39) |
|
probably benign |
Het |
| Kmt2e |
TTT |
TTTTCTT |
5: 23,683,507 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CCACAG |
CCACAGACACAG |
1: 83,019,846 (GRCm39) |
|
probably benign |
Het |
| Las1l |
CTTCCT |
CTTCCTTTTCCT |
X: 94,984,226 (GRCm39) |
|
probably benign |
Het |
| Lca5l |
GCCCTGGCCCTGGCCCC |
GCCC |
16: 95,960,497 (GRCm39) |
|
probably null |
Het |
| Lce1m |
CACTGCTGCTGC |
CACTGCTGCTGCAACTGCTGCTGC |
3: 92,925,446 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
CA |
CAGTTCCCTCGCCTCTGTTACCCCACAAATCACCAATA |
11: 58,281,069 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
GCAACA |
GCAACAACA |
X: 70,162,418 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
A |
AGCC |
X: 70,162,459 (GRCm39) |
|
probably benign |
Het |
| Map1a |
T |
TTGCTCCACCTCCAGCTCCAGCTCCAGCTCC |
2: 121,136,768 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,402 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GC |
GCATC |
3: 59,183,416 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GCAACA |
GCAACAACA |
3: 59,183,377 (GRCm39) |
|
probably benign |
Het |
| Med12l |
AGC |
AGCGGC |
3: 59,183,388 (GRCm39) |
|
probably benign |
Het |
| Morn4 |
GCAGTGAG |
GCAGTGAGTCAGTCAGTGAG |
19: 42,064,550 (GRCm39) |
|
probably null |
Het |
| Nusap1 |
GAGA |
GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA |
2: 119,458,088 (GRCm39) |
|
probably null |
Het |
| Opa3 |
GCGGGC |
GCGGGCGGAGCTGCGGGCGGAGCTGCGGGCGGAGCTACGGGC |
7: 18,989,594 (GRCm39) |
|
probably benign |
Het |
| Pdia4 |
CTCTTCCTCCT |
C |
6: 47,785,240 (GRCm39) |
|
probably null |
Het |
| Reep1 |
CGCCA |
CGCCAGCCA |
6: 71,684,950 (GRCm39) |
|
probably null |
Het |
| Sbp |
AAGA |
AAGACGCTGACAACAGAGA |
17: 24,164,358 (GRCm39) |
|
probably benign |
Het |
| Sfswap |
CTCGGCCCA |
CTCGGCCCAGTCGGCCCA |
5: 129,646,807 (GRCm39) |
|
probably benign |
Het |
| Slc39a4 |
TC |
TCATCATGATCACCATGGTCACCATGATCACTGTGGCC |
15: 76,499,071 (GRCm39) |
|
probably benign |
Het |
| Srpk2 |
ATCCT |
AT |
5: 23,730,573 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCACCA |
17: 48,097,022 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
T |
TCACCTCCCGTGGGCTTGCCAGAAG |
6: 72,593,057 (GRCm39) |
|
probably benign |
Het |
| Tob1 |
CACA |
CACAACA |
11: 94,105,277 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
A |
AGCTGCTGCTGCTGCT |
15: 72,673,132 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
GGA |
GGATGA |
6: 115,537,028 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
GC |
GCCACAGCAAC |
8: 109,682,720 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
CAGCAGCA |
CAGCAGCAAAAGCAGCA |
8: 109,682,730 (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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGACTGGGGCTCTGATTTCA -3'
(R):5'- ACCTCAGCCTCAGCCTCTG -3'
Sequencing Primer
(F):5'- ACTGGGGCTCTGATTTCATCTCTG -3'
(R):5'- TCAGCCTGAGCCACAGC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation