Incidental Mutation 'R7620:Gabre'
ID |
589125 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gabre
|
Ensembl Gene |
ENSMUSG00000031340 |
Gene Name |
gamma-aminobutyric acid (GABA) A receptor, subunit epsilon |
Synonyms |
|
MMRRC Submission |
045687-MU
|
Accession Numbers |
|
Essential gene? |
Not available
|
Stock # |
R7620 (G1)
|
Quality Score |
222.003 |
Status
|
Not validated
|
Chromosome |
X |
Chromosomal Location |
71300532-71318433 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 71313865 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Histidine
at position 311
(Q311H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066543
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064780]
|
AlphaFold |
A2AMW3 |
Predicted Effect |
unknown
Transcript: ENSMUST00000064780
AA Change: Q311H
|
SMART Domains |
Protein: ENSMUSP00000066543 Gene: ENSMUSG00000031340 AA Change: Q311H
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
98% (43/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adnp2 |
T |
C |
18: 80,173,702 (GRCm39) |
T236A |
probably damaging |
Het |
Alkbh7 |
A |
G |
17: 57,304,551 (GRCm39) |
Y63C |
probably damaging |
Het |
Calhm6 |
A |
T |
10: 34,003,614 (GRCm39) |
C98S |
probably damaging |
Het |
Ccr9 |
T |
A |
9: 123,608,911 (GRCm39) |
C198S |
probably damaging |
Het |
Chil3 |
T |
A |
3: 106,067,751 (GRCm39) |
D138V |
probably damaging |
Het |
Cntd1 |
A |
T |
11: 101,174,240 (GRCm39) |
E66D |
probably benign |
Het |
Cpz |
A |
T |
5: 35,669,194 (GRCm39) |
N312K |
possibly damaging |
Het |
Crat |
A |
G |
2: 30,298,090 (GRCm39) |
I203T |
probably damaging |
Het |
Cyp2j13 |
T |
A |
4: 95,944,899 (GRCm39) |
H410L |
probably benign |
Het |
Cyp39a1 |
G |
A |
17: 44,036,544 (GRCm39) |
|
probably null |
Het |
Dnah1 |
A |
T |
14: 31,025,863 (GRCm39) |
I828N |
possibly damaging |
Het |
Dnah7b |
A |
G |
1: 46,307,794 (GRCm39) |
D3036G |
probably damaging |
Het |
Dnpep |
A |
G |
1: 75,290,092 (GRCm39) |
V295A |
probably benign |
Het |
Efcab3 |
T |
A |
11: 104,722,969 (GRCm39) |
S1942T |
possibly damaging |
Het |
Fam111a |
A |
G |
19: 12,565,301 (GRCm39) |
D394G |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,462,887 (GRCm39) |
K1235E |
possibly damaging |
Het |
Garem1 |
T |
C |
18: 21,262,898 (GRCm39) |
S639G |
probably benign |
Het |
Gsdma |
A |
G |
11: 98,557,429 (GRCm39) |
T123A |
probably benign |
Het |
Iqcb1 |
A |
G |
16: 36,676,772 (GRCm39) |
N369S |
probably benign |
Het |
Lepr |
G |
T |
4: 101,609,270 (GRCm39) |
V286F |
probably benign |
Het |
Lgsn |
T |
C |
1: 31,242,461 (GRCm39) |
M181T |
probably benign |
Het |
Mapk15 |
T |
G |
15: 75,870,697 (GRCm39) |
S512A |
probably benign |
Het |
Mcm3ap |
A |
G |
10: 76,306,267 (GRCm39) |
T127A |
probably benign |
Het |
Msto1 |
A |
G |
3: 88,818,614 (GRCm39) |
F315L |
possibly damaging |
Het |
Myo5a |
T |
A |
9: 75,071,418 (GRCm39) |
D673E |
probably benign |
Het |
Nup88 |
G |
C |
11: 70,860,605 (GRCm39) |
P58R |
probably benign |
Het |
Or4x12-ps1 |
A |
C |
2: 89,915,977 (GRCm39) |
I276R |
probably damaging |
Het |
Or52e15 |
C |
A |
7: 104,645,962 (GRCm39) |
V50L |
possibly damaging |
Het |
Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
Ppp1r18 |
T |
C |
17: 36,178,191 (GRCm39) |
V22A |
probably benign |
Het |
Psme1 |
T |
A |
14: 55,817,797 (GRCm39) |
C101* |
probably null |
Het |
Rapgef4 |
G |
T |
2: 72,059,422 (GRCm39) |
C743F |
probably damaging |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Rnmt |
T |
A |
18: 68,447,105 (GRCm39) |
Y330N |
probably damaging |
Het |
Skint10 |
T |
A |
4: 112,573,014 (GRCm39) |
M261L |
possibly damaging |
Het |
Slc35b1 |
T |
C |
11: 95,278,691 (GRCm39) |
Y192H |
probably damaging |
Het |
Socs3 |
A |
G |
11: 117,858,396 (GRCm39) |
Y221H |
probably damaging |
Het |
Spink12 |
A |
G |
18: 44,237,684 (GRCm39) |
|
probably benign |
Het |
Sspo |
T |
C |
6: 48,444,020 (GRCm39) |
|
probably null |
Het |
Trp73 |
G |
A |
4: 154,143,714 (GRCm39) |
Q551* |
probably null |
Het |
Vmn2r45 |
C |
T |
7: 8,486,222 (GRCm39) |
W355* |
probably null |
Het |
Wdr35 |
A |
G |
12: 9,066,042 (GRCm39) |
I678V |
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 |
|
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 |
|
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'- GGGACTGGGGCTCTGATTTC -3'
(R):5'- GAACCTCAGCCTCAGCCT -3'
Sequencing Primer
(F):5'- GACTGGGGCTCTGATTTCATCTC -3'
(R):5'- ACCTGAGCCTCAGCCTGATC -3'
|
Posted On |
2019-10-24 |