Incidental Mutation 'R2853:Abat'
| ID |
252430 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abat
|
| Ensembl Gene |
ENSMUSG00000057880 |
| Gene Name |
4-aminobutyrate aminotransferase |
| Synonyms |
9630038C02Rik, GABA-T |
| MMRRC Submission |
040446-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2853 (G1)
|
| Quality Score |
160 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
8331293-8439432 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 8418832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Threonine
at position 142
(K142T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111504
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065987]
[ENSMUST00000115838]
[ENSMUST00000115839]
[ENSMUST00000138987]
|
| AlphaFold |
P61922 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065987
AA Change: K142T
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000063548
Gene: ENSMUSG00000057880
AA Change: K142T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_3
|
65 |
496 |
1.7e-136 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115838
AA Change: K142T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000111504
Gene: ENSMUSG00000057880
AA Change: K142T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_3
|
76 |
186 |
5e-30 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115839
AA Change: K142T
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000111505
Gene: ENSMUSG00000057880
AA Change: K142T
| 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 damaging
Transcript: ENSMUST00000138987
AA Change: K111T
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116686
Gene: ENSMUSG00000057880
AA Change: K111T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_3
|
53 |
232 |
1.9e-32 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000144444
AA Change: K46T
|
| SMART Domains |
Protein: ENSMUSP00000121881
Gene: ENSMUSG00000057880
AA Change: K46T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_3
|
3 |
93 |
1.3e-19 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2cl |
T |
C |
9: 110,723,203 (GRCm39) |
S636P |
probably damaging |
Het |
| Angptl7 |
T |
C |
4: 148,584,736 (GRCm39) |
E4G |
probably benign |
Het |
| Aph1c |
T |
C |
9: 66,741,764 (GRCm39) |
|
probably null |
Het |
| Arhgap23 |
T |
C |
11: 97,383,420 (GRCm39) |
|
probably null |
Het |
| Arhgef4 |
A |
C |
1: 34,763,129 (GRCm39) |
D795A |
unknown |
Het |
| Atosb |
A |
G |
4: 43,036,293 (GRCm39) |
L146P |
probably benign |
Het |
| Ccdc85a |
A |
G |
11: 28,342,942 (GRCm39) |
|
probably benign |
Het |
| Chchd1 |
T |
C |
14: 20,754,288 (GRCm39) |
S67P |
probably benign |
Het |
| Cubn |
C |
T |
2: 13,435,645 (GRCm39) |
V1104I |
probably benign |
Het |
| Dennd5a |
A |
T |
7: 109,532,878 (GRCm39) |
N297K |
probably damaging |
Het |
| Dnai4 |
T |
C |
4: 102,907,355 (GRCm39) |
I644V |
possibly damaging |
Het |
| Egflam |
A |
T |
15: 7,249,182 (GRCm39) |
W879R |
probably damaging |
Het |
| Far1 |
T |
C |
7: 113,152,944 (GRCm39) |
Y351H |
possibly damaging |
Het |
| Gpr62 |
T |
C |
9: 106,341,911 (GRCm39) |
E339G |
probably benign |
Het |
| Hspd1 |
A |
T |
1: 55,120,256 (GRCm39) |
D315E |
probably damaging |
Het |
| Ids |
G |
T |
X: 69,396,776 (GRCm39) |
T329K |
probably damaging |
Het |
| Itga9 |
G |
A |
9: 118,465,604 (GRCm39) |
E153K |
probably damaging |
Het |
| Krt82 |
T |
C |
15: 101,456,870 (GRCm39) |
Y170C |
probably damaging |
Het |
| Megf10 |
T |
C |
18: 57,427,003 (GRCm39) |
I1107T |
probably damaging |
Het |
| Mre11a |
A |
G |
9: 14,737,843 (GRCm39) |
E599G |
probably benign |
Het |
| Mtm1 |
T |
G |
X: 70,345,389 (GRCm39) |
I437S |
probably damaging |
Het |
| Ncoa2 |
C |
T |
1: 13,257,113 (GRCm39) |
V129I |
probably damaging |
Het |
| Ncs1 |
T |
C |
2: 31,177,329 (GRCm39) |
F169L |
probably damaging |
Het |
| Ndst2 |
T |
C |
14: 20,779,964 (GRCm39) |
E92G |
probably damaging |
Het |
| Parm1 |
T |
C |
5: 91,742,124 (GRCm39) |
V164A |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,128,526 (GRCm39) |
Q4059R |
probably benign |
Het |
| Scgb1b20 |
A |
C |
7: 33,072,949 (GRCm39) |
K52N |
possibly damaging |
Het |
| Setbp1 |
T |
A |
18: 78,967,211 (GRCm39) |
Q171L |
probably benign |
Het |
| Sik2 |
A |
T |
9: 50,809,597 (GRCm39) |
L612Q |
probably damaging |
Het |
| Srprb |
G |
A |
9: 103,076,038 (GRCm39) |
Q800* |
probably null |
Het |
| Ss18l1 |
A |
G |
2: 179,699,914 (GRCm39) |
Y258C |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,063,386 (GRCm39) |
K1567R |
probably benign |
Het |
| Ttc6 |
T |
C |
12: 57,622,967 (GRCm39) |
F122S |
probably damaging |
Het |
| Vmn2r85 |
T |
A |
10: 130,255,035 (GRCm39) |
M550L |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTGAGAACTTCAGCCAGTGC -3'
(R):5'- ATGTAGCCAGACAGCTAGAGC -3'
Sequencing Primer
(F):5'- GTGAGAACTTCAGCCAGTGCATTAAC -3'
(R):5'- GGCTATGGATCTCATCCT -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation