Incidental Mutation 'R4361:Gabra4'
ID |
324902 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gabra4
|
Ensembl Gene |
ENSMUSG00000029211 |
Gene Name |
gamma-aminobutyric acid type A receptor subunit alpha 4 |
Synonyms |
Gabra-4 |
MMRRC Submission |
041112-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4361 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
71727092-71815651 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 71790888 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143675
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031121]
[ENSMUST00000197994]
[ENSMUST00000198138]
[ENSMUST00000199357]
|
AlphaFold |
Q9D6F4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000031121
|
SMART Domains |
Protein: ENSMUSP00000031121 Gene: ENSMUSG00000029211
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
Pfam:Neur_chan_LBD
|
48 |
256 |
8.8e-52 |
PFAM |
Pfam:Neur_chan_memb
|
263 |
536 |
3.4e-44 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197994
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198138
|
SMART Domains |
Protein: ENSMUSP00000142466 Gene: ENSMUSG00000029211
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
SCOP:d1i9ba_
|
53 |
69 |
3e-3 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000199357
|
SMART Domains |
Protein: ENSMUSP00000143675 Gene: ENSMUSG00000029211
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
Pfam:Neur_chan_LBD
|
91 |
282 |
1.7e-45 |
PFAM |
Pfam:Neur_chan_memb
|
289 |
562 |
3.3e-44 |
PFAM |
|
Meta Mutation Damage Score |
0.9479 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (61/61) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. This gene encodes subunit alpha-4, which is involved in the etiology of autism and eventually increases autism risk through interaction with another subunit, gamma-aminobutyric acid receptor beta-1 (GABRB1). Alternatively spliced transcript variants encoding different isoforms have been found in this gene.[provided by RefSeq, Feb 2011] PHENOTYPE: Homozygous mutation of this gene does not appear to result in a phenotype. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003E16Rik |
A |
G |
6: 83,139,688 (GRCm39) |
T538A |
probably damaging |
Het |
4930578I07Rik |
T |
C |
14: 67,175,850 (GRCm39) |
|
noncoding transcript |
Het |
Aadac |
T |
A |
3: 59,947,182 (GRCm39) |
S293R |
probably benign |
Het |
Cc2d1b |
G |
A |
4: 108,481,947 (GRCm39) |
|
probably benign |
Het |
Ccdc157 |
C |
T |
11: 4,096,550 (GRCm39) |
A400T |
probably damaging |
Het |
Cdc42ep5 |
A |
G |
7: 4,154,779 (GRCm39) |
V3A |
possibly damaging |
Het |
Cyp11b1 |
T |
A |
15: 74,710,865 (GRCm39) |
M232L |
possibly damaging |
Het |
Dhrs2 |
G |
A |
14: 55,478,646 (GRCm39) |
D264N |
probably damaging |
Het |
Dram2 |
T |
C |
3: 106,473,531 (GRCm39) |
|
probably benign |
Het |
Dtx4 |
C |
A |
19: 12,462,660 (GRCm39) |
S373I |
probably benign |
Het |
Eif4a1 |
G |
A |
11: 69,558,290 (GRCm39) |
|
probably benign |
Het |
Eps15 |
T |
C |
4: 109,237,228 (GRCm39) |
|
probably null |
Het |
Fam135b |
T |
A |
15: 71,362,676 (GRCm39) |
Q235L |
probably damaging |
Het |
Fgfr3 |
T |
C |
5: 33,880,676 (GRCm39) |
|
probably benign |
Het |
Gins1 |
A |
G |
2: 150,767,821 (GRCm39) |
Y117C |
probably damaging |
Het |
Gm12253 |
T |
A |
11: 58,325,687 (GRCm39) |
S53T |
probably benign |
Het |
Gne |
C |
A |
4: 44,059,947 (GRCm39) |
A149S |
possibly damaging |
Het |
Gpc2 |
A |
T |
5: 138,276,552 (GRCm39) |
C191* |
probably null |
Het |
Has2 |
G |
T |
15: 56,545,344 (GRCm39) |
A86E |
probably damaging |
Het |
Ift80 |
A |
T |
3: 68,870,982 (GRCm39) |
S205T |
probably damaging |
Het |
Irx5 |
G |
T |
8: 93,085,025 (GRCm39) |
A72S |
probably damaging |
Het |
Kcnmb4 |
A |
T |
10: 116,309,410 (GRCm39) |
V6E |
probably benign |
Het |
Kcnt1 |
A |
T |
2: 25,768,044 (GRCm39) |
Q51L |
probably benign |
Het |
Klk1b11 |
A |
G |
7: 43,645,378 (GRCm39) |
|
probably null |
Het |
Kmt2d |
T |
G |
15: 98,761,551 (GRCm39) |
M600L |
unknown |
Het |
Lmtk2 |
T |
A |
5: 144,084,482 (GRCm39) |
S172R |
probably damaging |
Het |
Lrrc37 |
CTTTT |
CTTTTT |
11: 103,508,327 (GRCm39) |
|
probably null |
Het |
Lrrc46 |
G |
A |
11: 96,925,496 (GRCm39) |
|
probably benign |
Het |
Mab21l2 |
C |
T |
3: 86,454,497 (GRCm39) |
V168M |
probably damaging |
Het |
Magea3 |
A |
C |
X: 153,731,850 (GRCm39) |
C218G |
possibly damaging |
Het |
Magea3 |
C |
A |
X: 153,731,849 (GRCm39) |
C218F |
probably benign |
Het |
Man1a2 |
T |
C |
3: 100,563,358 (GRCm39) |
K96E |
probably benign |
Het |
Mroh2a |
A |
T |
1: 88,182,687 (GRCm39) |
N1205I |
possibly damaging |
Het |
Myf6 |
GGGGGCAG |
GG |
10: 107,330,293 (GRCm39) |
|
probably benign |
Het |
Myom2 |
G |
A |
8: 15,162,018 (GRCm39) |
V984I |
possibly damaging |
Het |
Nav1 |
G |
A |
1: 135,535,175 (GRCm39) |
|
probably benign |
Het |
Nav3 |
T |
C |
10: 109,688,847 (GRCm39) |
K477E |
probably damaging |
Het |
Nup98 |
T |
A |
7: 101,794,921 (GRCm39) |
H862L |
probably damaging |
Het |
Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
Pcnx2 |
G |
T |
8: 126,495,037 (GRCm39) |
S1608* |
probably null |
Het |
Pramel16 |
A |
G |
4: 143,677,433 (GRCm39) |
F49L |
possibly damaging |
Het |
Ren1 |
A |
G |
1: 133,286,779 (GRCm39) |
I303V |
probably benign |
Het |
Retreg3 |
T |
A |
11: 100,994,713 (GRCm39) |
|
probably null |
Het |
Rnf6 |
C |
A |
5: 146,148,089 (GRCm39) |
V310F |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Scrn2 |
C |
T |
11: 96,923,064 (GRCm39) |
A169V |
probably null |
Het |
Slc4a10 |
T |
C |
2: 62,073,729 (GRCm39) |
S264P |
probably benign |
Het |
Tex26 |
A |
T |
5: 149,384,388 (GRCm39) |
Q102L |
probably benign |
Het |
Tex38 |
A |
G |
4: 115,637,420 (GRCm39) |
S128P |
probably benign |
Het |
Trmt1l |
A |
G |
1: 151,311,626 (GRCm39) |
|
probably benign |
Het |
Tyr |
G |
T |
7: 87,078,284 (GRCm39) |
H525Q |
probably benign |
Het |
Veph1 |
T |
C |
3: 66,066,737 (GRCm39) |
N417S |
probably benign |
Het |
Zfp597 |
A |
T |
16: 3,683,764 (GRCm39) |
S331T |
probably damaging |
Het |
|
Other mutations in Gabra4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01111:Gabra4
|
APN |
5 |
71,790,972 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01503:Gabra4
|
APN |
5 |
71,798,429 (GRCm39) |
missense |
possibly damaging |
0.60 |
IGL02028:Gabra4
|
APN |
5 |
71,790,939 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02688:Gabra4
|
APN |
5 |
71,729,510 (GRCm39) |
missense |
probably benign |
|
IGL02749:Gabra4
|
APN |
5 |
71,795,490 (GRCm39) |
missense |
probably benign |
0.42 |
IGL03095:Gabra4
|
APN |
5 |
71,781,358 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03330:Gabra4
|
APN |
5 |
71,798,407 (GRCm39) |
missense |
probably null |
1.00 |
E0354:Gabra4
|
UTSW |
5 |
71,798,204 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4142001:Gabra4
|
UTSW |
5 |
71,729,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R1523:Gabra4
|
UTSW |
5 |
71,790,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R1622:Gabra4
|
UTSW |
5 |
71,729,329 (GRCm39) |
missense |
possibly damaging |
0.57 |
R1689:Gabra4
|
UTSW |
5 |
71,790,885 (GRCm39) |
splice site |
probably null |
|
R1930:Gabra4
|
UTSW |
5 |
71,795,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R1931:Gabra4
|
UTSW |
5 |
71,795,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R1967:Gabra4
|
UTSW |
5 |
71,729,412 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2095:Gabra4
|
UTSW |
5 |
71,781,455 (GRCm39) |
missense |
probably damaging |
0.99 |
R2131:Gabra4
|
UTSW |
5 |
71,798,567 (GRCm39) |
missense |
probably benign |
0.00 |
R2698:Gabra4
|
UTSW |
5 |
71,729,421 (GRCm39) |
missense |
probably benign |
0.03 |
R3884:Gabra4
|
UTSW |
5 |
71,814,600 (GRCm39) |
missense |
probably benign |
0.33 |
R3924:Gabra4
|
UTSW |
5 |
71,799,596 (GRCm39) |
splice site |
probably benign |
|
R4029:Gabra4
|
UTSW |
5 |
71,729,532 (GRCm39) |
missense |
probably benign |
0.31 |
R4659:Gabra4
|
UTSW |
5 |
71,798,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R4682:Gabra4
|
UTSW |
5 |
71,815,152 (GRCm39) |
start codon destroyed |
probably null |
0.74 |
R4810:Gabra4
|
UTSW |
5 |
71,781,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R4888:Gabra4
|
UTSW |
5 |
71,729,546 (GRCm39) |
missense |
probably benign |
0.01 |
R5093:Gabra4
|
UTSW |
5 |
71,798,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R5121:Gabra4
|
UTSW |
5 |
71,729,546 (GRCm39) |
missense |
probably benign |
0.01 |
R5889:Gabra4
|
UTSW |
5 |
71,729,234 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5906:Gabra4
|
UTSW |
5 |
71,781,253 (GRCm39) |
missense |
probably benign |
0.00 |
R6574:Gabra4
|
UTSW |
5 |
71,781,268 (GRCm39) |
missense |
probably benign |
|
R7068:Gabra4
|
UTSW |
5 |
71,729,402 (GRCm39) |
missense |
probably benign |
0.07 |
R7571:Gabra4
|
UTSW |
5 |
71,729,335 (GRCm39) |
missense |
probably benign |
|
R7815:Gabra4
|
UTSW |
5 |
71,815,152 (GRCm39) |
start codon destroyed |
possibly damaging |
0.54 |
R7817:Gabra4
|
UTSW |
5 |
71,798,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R7840:Gabra4
|
UTSW |
5 |
71,798,256 (GRCm39) |
splice site |
probably null |
|
R7899:Gabra4
|
UTSW |
5 |
71,815,338 (GRCm39) |
unclassified |
probably benign |
|
R8000:Gabra4
|
UTSW |
5 |
71,781,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R8057:Gabra4
|
UTSW |
5 |
71,781,295 (GRCm39) |
missense |
probably benign |
0.12 |
R8996:Gabra4
|
UTSW |
5 |
71,729,046 (GRCm39) |
missense |
possibly damaging |
0.51 |
R9623:Gabra4
|
UTSW |
5 |
71,791,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R9682:Gabra4
|
UTSW |
5 |
71,798,415 (GRCm39) |
missense |
possibly damaging |
0.75 |
R9756:Gabra4
|
UTSW |
5 |
71,729,067 (GRCm39) |
missense |
probably damaging |
0.96 |
R9762:Gabra4
|
UTSW |
5 |
71,814,463 (GRCm39) |
missense |
unknown |
|
R9787:Gabra4
|
UTSW |
5 |
71,791,004 (GRCm39) |
missense |
possibly damaging |
0.92 |
Z1176:Gabra4
|
UTSW |
5 |
71,781,238 (GRCm39) |
missense |
probably benign |
0.40 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAAGGGACAGACTGCCCTATC -3'
(R):5'- GCAATTCTCAGTGAAATATGCATGG -3'
Sequencing Primer
(F):5'- TATCTCCCCATGCAGCGGTG -3'
(R):5'- GCCTACAGTACCAGTAATCTATTTTC -3'
|
Posted On |
2015-07-06 |