Incidental Mutation 'R5804:Abat'
| ID |
448424 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abat
|
| Ensembl Gene |
ENSMUSG00000057880 |
| Gene Name |
4-aminobutyrate aminotransferase |
| Synonyms |
9630038C02Rik, GABA-T |
| MMRRC Submission |
043211-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5804 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
8331293-8439432 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 8396100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 19
(R19*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065987]
[ENSMUST00000115838]
[ENSMUST00000115839]
[ENSMUST00000138987]
|
| AlphaFold |
P61922 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000065987
AA Change: R26*
|
| SMART Domains |
Protein: ENSMUSP00000063548
Gene: ENSMUSG00000057880
AA Change: R26*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_3
|
65 |
496 |
1.7e-136 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115838
AA Change: R26*
|
| SMART Domains |
Protein: ENSMUSP00000111504
Gene: ENSMUSG00000057880
AA Change: R26*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_3
|
76 |
186 |
5e-30 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115839
AA Change: R26*
|
| SMART Domains |
Protein: ENSMUSP00000111505
Gene: ENSMUSG00000057880
AA Change: R26*
| 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 null
Transcript: ENSMUST00000138987
AA Change: R19*
|
| SMART Domains |
Protein: ENSMUSP00000116686
Gene: ENSMUSG00000057880
AA Change: R19*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_3
|
53 |
232 |
1.9e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140795
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| 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 |
|---|
| Abcb9 |
A |
G |
5: 124,218,118 (GRCm39) |
M406T |
probably benign |
Het |
| Ager |
A |
G |
17: 34,817,157 (GRCm39) |
E32G |
probably damaging |
Het |
| Cdk10 |
T |
A |
8: 123,955,579 (GRCm39) |
|
probably null |
Het |
| Cfap97d1 |
A |
G |
11: 101,881,640 (GRCm39) |
N112S |
probably damaging |
Het |
| Ctsl |
A |
T |
13: 64,514,302 (GRCm39) |
Y259N |
probably damaging |
Het |
| Ctu2 |
T |
C |
8: 123,207,965 (GRCm39) |
|
probably null |
Het |
| Dse |
T |
A |
10: 34,029,375 (GRCm39) |
I572F |
possibly damaging |
Het |
| Flt1 |
A |
T |
5: 147,517,247 (GRCm39) |
|
probably null |
Het |
| Gatm |
T |
A |
2: 122,433,083 (GRCm39) |
Y193F |
probably benign |
Het |
| Gpaa1 |
T |
C |
15: 76,216,826 (GRCm39) |
F170S |
probably damaging |
Het |
| Grm3 |
A |
G |
5: 9,620,155 (GRCm39) |
L363P |
probably benign |
Het |
| Heatr5b |
G |
A |
17: 79,138,951 (GRCm39) |
P64S |
probably damaging |
Het |
| Hfm1 |
A |
G |
5: 107,026,455 (GRCm39) |
|
probably null |
Het |
| Hivep2 |
A |
C |
10: 14,009,519 (GRCm39) |
K1725N |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,550,098 (GRCm39) |
C2695* |
probably null |
Het |
| Hmgcr |
G |
A |
13: 96,802,695 (GRCm39) |
T68M |
probably damaging |
Het |
| Igsf21 |
A |
T |
4: 139,755,385 (GRCm39) |
D423E |
possibly damaging |
Het |
| Jag1 |
T |
C |
2: 136,930,124 (GRCm39) |
N751S |
probably benign |
Het |
| Klrc2 |
A |
T |
6: 129,637,436 (GRCm39) |
N28K |
possibly damaging |
Het |
| Lrrc8c |
A |
T |
5: 105,727,423 (GRCm39) |
D29V |
possibly damaging |
Het |
| Mtcl1 |
A |
C |
17: 66,650,132 (GRCm39) |
S1329A |
probably benign |
Het |
| Nin |
C |
T |
12: 70,092,375 (GRCm39) |
V645I |
possibly damaging |
Het |
| Or4c127 |
T |
C |
2: 89,833,332 (GRCm39) |
I194T |
possibly damaging |
Het |
| Or51i1 |
T |
C |
7: 103,671,439 (GRCm39) |
I29V |
probably benign |
Het |
| Or8s2 |
T |
A |
15: 98,276,215 (GRCm39) |
M259L |
probably benign |
Het |
| Or9g4 |
T |
A |
2: 85,504,682 (GRCm39) |
D271V |
probably damaging |
Het |
| Pfpl |
A |
T |
19: 12,407,027 (GRCm39) |
H426L |
probably benign |
Het |
| Poteg |
A |
G |
8: 27,946,826 (GRCm39) |
D238G |
probably damaging |
Het |
| Psen1 |
T |
C |
12: 83,778,474 (GRCm39) |
F386L |
probably damaging |
Het |
| Rassf9 |
A |
T |
10: 102,380,905 (GRCm39) |
I96F |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,840,077 (GRCm39) |
|
probably null |
Het |
| Slc16a4 |
A |
T |
3: 107,206,280 (GRCm39) |
M117L |
probably benign |
Het |
| Slc4a8 |
A |
G |
15: 100,689,506 (GRCm39) |
N372S |
possibly damaging |
Het |
| Stmn4 |
G |
A |
14: 66,593,748 (GRCm39) |
G47D |
probably benign |
Het |
| Tex26 |
A |
G |
5: 149,386,612 (GRCm39) |
N137S |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,747,163 (GRCm39) |
I4629F |
probably benign |
Het |
| Ubash3a |
G |
A |
17: 31,427,206 (GRCm39) |
|
probably null |
Het |
| Ube3d |
T |
C |
9: 86,307,401 (GRCm39) |
I233V |
probably benign |
Het |
| Utrn |
T |
A |
10: 12,297,369 (GRCm39) |
T680S |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,826,640 (GRCm39) |
T2846I |
probably benign |
Het |
| Zbtb22 |
TGGACCCGGGAC |
TGGACCCGGGACCCGGGAC |
17: 34,137,593 (GRCm39) |
|
probably null |
Het |
| Zfp41 |
C |
T |
15: 75,490,557 (GRCm39) |
P170S |
probably 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 |
|
IGL02024:Abat
|
APN |
16 |
8,429,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTACAACCTCATTGGCCCTGG -3'
(R):5'- ATGCCCGTCTCTAGAAGAGG -3'
Sequencing Primer
(F):5'- AATCCTTATTGTCCTGAGAGTCTAGG -3'
(R):5'- GAGGCTCTGAAAATGCCTCTTAAGC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation