Incidental Mutation 'IGL02071:Abat'
| ID |
185822 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Abat
|
| Ensembl Gene |
ENSMUSG00000057880 |
| Gene Name |
4-aminobutyrate aminotransferase |
| Synonyms |
9630038C02Rik, GABA-T |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02071
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
8331293-8439432 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 8400676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 92
(R92C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065987]
[ENSMUST00000115838]
[ENSMUST00000115839]
[ENSMUST00000138987]
|
| AlphaFold |
P61922 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065987
AA Change: R92C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063548
Gene: ENSMUSG00000057880
AA Change: R92C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_3
|
65 |
496 |
1.7e-136 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115838
AA Change: R92C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111504
Gene: ENSMUSG00000057880
AA Change: R92C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_3
|
76 |
186 |
5e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115839
AA Change: R92C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111505
Gene: ENSMUSG00000057880
AA Change: R92C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_3
|
76 |
323 |
3.2e-64 |
PFAM |
|
Pfam:Aminotran_3
|
317 |
390 |
1.8e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138987
|
| SMART Domains |
Protein: ENSMUSP00000116686
Gene: ENSMUSG00000057880
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_3
|
53 |
232 |
1.9e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140795
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144444
|
| SMART Domains |
Protein: ENSMUSP00000121881
Gene: ENSMUSG00000057880
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_3
|
3 |
93 |
1.3e-19 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The encoded gene product is responsible for catabolism of gamma-aminobutyric acid (GABA), a mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. Deficiency of this encoded protein includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
C |
A |
8: 56,324,589 (GRCm39) |
V622L |
possibly damaging |
Het |
| Bzw2 |
T |
C |
12: 36,157,502 (GRCm39) |
H321R |
probably benign |
Het |
| C2cd2 |
C |
T |
16: 97,671,432 (GRCm39) |
R489Q |
probably damaging |
Het |
| Cdh23 |
G |
A |
10: 60,359,339 (GRCm39) |
T253I |
possibly damaging |
Het |
| Col4a3 |
T |
G |
1: 82,638,608 (GRCm39) |
|
probably null |
Het |
| D630039A03Rik |
T |
C |
4: 57,910,309 (GRCm39) |
T168A |
possibly damaging |
Het |
| Dnajc19 |
A |
G |
3: 34,132,914 (GRCm39) |
L97P |
possibly damaging |
Het |
| Dpep2 |
A |
T |
8: 106,711,776 (GRCm39) |
H550Q |
probably benign |
Het |
| Dvl2 |
C |
A |
11: 69,895,626 (GRCm39) |
|
probably null |
Het |
| Fam234b |
A |
G |
6: 135,204,149 (GRCm39) |
|
probably null |
Het |
| Fxyd5 |
A |
G |
7: 30,739,613 (GRCm39) |
V32A |
possibly damaging |
Het |
| Itprid1 |
C |
A |
6: 55,944,710 (GRCm39) |
S477* |
probably null |
Het |
| Mak16 |
A |
T |
8: 31,650,557 (GRCm39) |
S251T |
probably benign |
Het |
| Med10 |
T |
C |
13: 69,963,747 (GRCm39) |
V116A |
probably benign |
Het |
| Mycbp2 |
G |
A |
14: 103,392,343 (GRCm39) |
R50* |
probably null |
Het |
| Nckap5 |
G |
A |
1: 125,909,305 (GRCm39) |
P272L |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,334,947 (GRCm39) |
V933E |
possibly damaging |
Het |
| Nrxn2 |
T |
A |
19: 6,531,783 (GRCm39) |
V749E |
probably damaging |
Het |
| Or51e2 |
A |
C |
7: 102,391,355 (GRCm39) |
V285G |
probably damaging |
Het |
| Or5al1 |
C |
A |
2: 85,990,219 (GRCm39) |
R165L |
probably benign |
Het |
| Osbpl9 |
T |
C |
4: 108,929,176 (GRCm39) |
Y417C |
probably damaging |
Het |
| Otop1 |
G |
A |
5: 38,445,327 (GRCm39) |
A162T |
probably damaging |
Het |
| Patl1 |
C |
A |
19: 11,917,054 (GRCm39) |
P634T |
probably damaging |
Het |
| Ppl |
A |
T |
16: 4,930,936 (GRCm39) |
S28T |
probably benign |
Het |
| Prkar2b |
C |
T |
12: 32,013,016 (GRCm39) |
G367R |
probably damaging |
Het |
| Rbl2 |
G |
A |
8: 91,828,826 (GRCm39) |
V576I |
probably damaging |
Het |
| Rgl3 |
C |
T |
9: 21,899,559 (GRCm39) |
A53T |
probably benign |
Het |
| Rp1 |
T |
A |
1: 4,415,533 (GRCm39) |
I1860F |
possibly damaging |
Het |
| Sbno2 |
A |
T |
10: 79,896,475 (GRCm39) |
D877E |
probably damaging |
Het |
| Sectm1b |
C |
T |
11: 120,946,761 (GRCm39) |
V45I |
probably damaging |
Het |
| Sfmbt2 |
G |
A |
2: 10,582,763 (GRCm39) |
V741I |
probably benign |
Het |
| Sugt1 |
T |
A |
14: 79,847,723 (GRCm39) |
L191* |
probably null |
Het |
| Tcf21 |
A |
T |
10: 22,693,709 (GRCm39) |
V156E |
possibly damaging |
Het |
| Tep1 |
T |
A |
14: 51,071,506 (GRCm39) |
R2046S |
possibly damaging |
Het |
| Tmem181a |
T |
C |
17: 6,347,531 (GRCm39) |
F241S |
probably damaging |
Het |
| Traf6 |
G |
A |
2: 101,527,138 (GRCm39) |
C296Y |
probably benign |
Het |
| Trim40 |
A |
G |
17: 37,200,070 (GRCm39) |
S3P |
probably benign |
Het |
| Ttll2 |
A |
T |
17: 7,619,130 (GRCm39) |
Y266N |
probably damaging |
Het |
| Vps54 |
A |
G |
11: 21,225,071 (GRCm39) |
N177S |
probably null |
Het |
|
| Other mutations in Abat |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01635:Abat
|
APN |
16 |
8,431,910 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01642:Abat
|
APN |
16 |
8,418,783 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02024:Abat
|
APN |
16 |
8,429,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2853:Abat
|
UTSW |
16 |
8,418,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4839:Abat
|
UTSW |
16 |
8,401,512 (GRCm39) |
intron |
probably benign |
|
|
R4895:Abat
|
UTSW |
16 |
8,433,826 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5378:Abat
|
UTSW |
16 |
8,396,141 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5804:Abat
|
UTSW |
16 |
8,396,100 (GRCm39) |
nonsense |
probably null |
|
|
R6012:Abat
|
UTSW |
16 |
8,400,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6113:Abat
|
UTSW |
16 |
8,390,764 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6122:Abat
|
UTSW |
16 |
8,423,414 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6190:Abat
|
UTSW |
16 |
8,423,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6328:Abat
|
UTSW |
16 |
8,420,300 (GRCm39) |
intron |
probably benign |
|
|
R6382:Abat
|
UTSW |
16 |
8,418,850 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6426:Abat
|
UTSW |
16 |
8,420,300 (GRCm39) |
intron |
probably benign |
|
|
R6427:Abat
|
UTSW |
16 |
8,420,300 (GRCm39) |
intron |
probably benign |
|
|
R6428:Abat
|
UTSW |
16 |
8,420,300 (GRCm39) |
intron |
probably benign |
|
|
R6738:Abat
|
UTSW |
16 |
8,420,300 (GRCm39) |
intron |
probably benign |
|
|
R7009:Abat
|
UTSW |
16 |
8,420,231 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7019:Abat
|
UTSW |
16 |
8,436,395 (GRCm39) |
nonsense |
probably null |
|
|
R7310:Abat
|
UTSW |
16 |
8,423,457 (GRCm39) |
missense |
probably null |
0.01 |
|
R7499:Abat
|
UTSW |
16 |
8,421,618 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8122:Abat
|
UTSW |
16 |
8,433,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8138:Abat
|
UTSW |
16 |
8,418,829 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8948:Abat
|
UTSW |
16 |
8,418,805 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8962:Abat
|
UTSW |
16 |
8,396,166 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9323:Abat
|
UTSW |
16 |
8,420,235 (GRCm39) |
nonsense |
probably null |
|
|
R9760:Abat
|
UTSW |
16 |
8,399,794 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Abat
|
UTSW |
16 |
8,421,617 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation