Incidental Mutation 'IGL02024:Abat'
| ID |
184089 |
| 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 # |
IGL02024
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
8331293-8439432 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 8429000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 322
(A322T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065987]
[ENSMUST00000115839]
|
| AlphaFold |
P61922 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065987
AA Change: A322T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000063548
Gene: ENSMUSG00000057880
AA Change: A322T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_3
|
65 |
496 |
1.7e-136 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115839
|
| SMART Domains |
Protein: ENSMUSP00000111505
Gene: ENSMUSG00000057880
| 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 |
noncoding transcript
Transcript: ENSMUST00000128459
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
G |
A |
6: 23,113,705 (GRCm39) |
H246Y |
probably damaging |
Het |
| Bcat1 |
A |
G |
6: 144,978,564 (GRCm39) |
V152A |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,969,826 (GRCm39) |
|
probably benign |
Het |
| Elavl2 |
T |
C |
4: 91,141,776 (GRCm39) |
T291A |
probably benign |
Het |
| Ezh1 |
G |
T |
11: 101,090,166 (GRCm39) |
H529Q |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,805,799 (GRCm39) |
C2026Y |
probably damaging |
Het |
| Fcgrt |
T |
A |
7: 44,744,682 (GRCm39) |
H258L |
probably damaging |
Het |
| Galnt6 |
C |
T |
15: 100,601,374 (GRCm39) |
D302N |
probably benign |
Het |
| Gldc |
T |
A |
19: 30,078,227 (GRCm39) |
R923S |
probably damaging |
Het |
| Hspg2 |
G |
T |
4: 137,267,384 (GRCm39) |
A2033S |
probably damaging |
Het |
| Htr2c |
T |
A |
X: 145,858,921 (GRCm39) |
M77K |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,510,856 (GRCm39) |
Y337C |
probably damaging |
Het |
| Ints11 |
G |
T |
4: 155,972,972 (GRCm39) |
W554L |
probably damaging |
Het |
| Itgbl1 |
T |
A |
14: 124,094,904 (GRCm39) |
C186S |
probably damaging |
Het |
| Lipf |
A |
G |
19: 33,953,995 (GRCm39) |
Y362C |
probably damaging |
Het |
| Map2k7 |
T |
A |
8: 4,297,663 (GRCm39) |
S421R |
possibly damaging |
Het |
| Mroh9 |
T |
G |
1: 162,890,071 (GRCm39) |
N222T |
possibly damaging |
Het |
| Msl3 |
C |
A |
X: 167,453,247 (GRCm39) |
R89L |
probably benign |
Het |
| Nrip1 |
T |
A |
16: 76,088,563 (GRCm39) |
D998V |
probably benign |
Het |
| Nrk |
T |
A |
X: 137,896,678 (GRCm39) |
I1265N |
probably damaging |
Het |
| Ntn5 |
A |
G |
7: 45,340,830 (GRCm39) |
|
probably benign |
Het |
| Or11g27 |
A |
G |
14: 50,771,307 (GRCm39) |
N146S |
probably benign |
Het |
| Or5w20 |
A |
T |
2: 87,727,243 (GRCm39) |
R233S |
possibly damaging |
Het |
| Or6s1 |
T |
G |
14: 51,308,766 (GRCm39) |
E28A |
probably benign |
Het |
| Plch2 |
T |
C |
4: 155,127,595 (GRCm39) |
|
probably benign |
Het |
| Porcn |
C |
T |
X: 8,067,901 (GRCm39) |
V233I |
probably benign |
Het |
| Ppp2r2a |
T |
C |
14: 67,276,361 (GRCm39) |
K48R |
probably benign |
Het |
| Ppp4r3c1 |
G |
A |
X: 88,975,129 (GRCm39) |
T356I |
probably benign |
Het |
| Rccd1 |
A |
T |
7: 79,968,755 (GRCm39) |
D268E |
probably benign |
Het |
| Sacs |
C |
A |
14: 61,427,127 (GRCm39) |
S178R |
probably damaging |
Het |
| Samd12 |
T |
A |
15: 53,521,862 (GRCm39) |
D116V |
probably damaging |
Het |
| Slc12a8 |
A |
G |
16: 33,428,568 (GRCm39) |
E46G |
probably damaging |
Het |
| Slc30a10 |
A |
T |
1: 185,187,438 (GRCm39) |
I60F |
possibly damaging |
Het |
| Slc6a8 |
C |
T |
X: 72,722,583 (GRCm39) |
|
probably benign |
Het |
| Sos2 |
A |
G |
12: 69,664,822 (GRCm39) |
|
probably benign |
Het |
| Tbc1d31 |
T |
C |
15: 57,783,338 (GRCm39) |
V79A |
probably benign |
Het |
| Tmem184c |
A |
T |
8: 78,331,443 (GRCm39) |
V102E |
probably benign |
Het |
| Ttc19 |
G |
T |
11: 62,203,939 (GRCm39) |
R300I |
probably damaging |
Het |
| Unc5d |
T |
A |
8: 29,142,855 (GRCm39) |
I866F |
probably benign |
Het |
| Vmn1r7 |
A |
T |
6: 57,001,874 (GRCm39) |
C129S |
probably benign |
Het |
| Vps41 |
T |
A |
13: 18,975,827 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
C |
T |
14: 79,331,724 (GRCm39) |
A1275V |
possibly damaging |
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 |
|
IGL02071:Abat
|
APN |
16 |
8,400,676 (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