Incidental Mutation 'R0050:Slc6a12'
| ID |
218459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc6a12
|
| Ensembl Gene |
ENSMUSG00000030109 |
| Gene Name |
solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 |
| Synonyms |
Gabt2, BGT1 |
| MMRRC Submission |
038344-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0050 (G1)
|
| Quality Score |
79 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
121320035-121342734 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 121337378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032200]
[ENSMUST00000163771]
[ENSMUST00000165456]
[ENSMUST00000166457]
[ENSMUST00000171008]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032200
|
| SMART Domains |
Protein: ENSMUSP00000032200
Gene: ENSMUSG00000030109
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
50 |
575 |
2e-242 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163771
|
| SMART Domains |
Protein: ENSMUSP00000127779
Gene: ENSMUSG00000030109
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
1 |
128 |
3.2e-63 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165456
|
| SMART Domains |
Protein: ENSMUSP00000130715
Gene: ENSMUSG00000030109
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
1 |
49 |
3.3e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166457
|
| SMART Domains |
Protein: ENSMUSP00000126937
Gene: ENSMUSG00000030109
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
36 |
561 |
2.5e-242 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170339
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170582
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171008
|
| SMART Domains |
Protein: ENSMUSP00000126708
Gene: ENSMUSG00000030109
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
36 |
518 |
1.5e-227 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171874
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.6%
|
| Validation Efficiency |
98% (54/55) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted allele exhibit normal seizure threshold. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
C |
T |
11: 110,036,417 (GRCm39) |
C564Y |
probably damaging |
Het |
| Adamts2 |
T |
C |
11: 50,666,222 (GRCm39) |
V406A |
probably damaging |
Het |
| Ankar |
T |
A |
1: 72,695,323 (GRCm39) |
E1093D |
probably damaging |
Het |
| Arhgef38 |
C |
A |
3: 132,837,957 (GRCm39) |
D75Y |
probably damaging |
Het |
| Atg4b |
T |
A |
1: 93,715,440 (GRCm39) |
|
probably benign |
Het |
| Cadm2 |
A |
G |
16: 66,750,154 (GRCm39) |
|
probably benign |
Het |
| Ces2c |
T |
A |
8: 105,574,831 (GRCm39) |
M96K |
probably benign |
Het |
| Dmrt3 |
C |
A |
19: 25,599,953 (GRCm39) |
P266H |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,844,637 (GRCm39) |
V1124A |
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,805,809 (GRCm39) |
F37L |
possibly damaging |
Het |
| Ermp1 |
C |
A |
19: 29,606,184 (GRCm39) |
A190S |
probably damaging |
Het |
| Gm10267 |
T |
A |
18: 44,289,520 (GRCm39) |
|
probably benign |
Het |
| Golga2 |
T |
A |
2: 32,182,139 (GRCm39) |
V29D |
probably damaging |
Het |
| Gprc6a |
T |
A |
10: 51,491,485 (GRCm39) |
M755L |
probably damaging |
Het |
| H1f8 |
G |
T |
6: 115,924,729 (GRCm39) |
K78N |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,537,160 (GRCm39) |
H268Q |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 102,904,792 (GRCm39) |
V1614A |
probably damaging |
Het |
| Oaz2 |
A |
G |
9: 65,595,084 (GRCm39) |
E61G |
probably damaging |
Het |
| Pear1 |
G |
T |
3: 87,663,294 (GRCm39) |
Y441* |
probably null |
Het |
| Pkhd1l1 |
A |
T |
15: 44,437,203 (GRCm39) |
T3493S |
possibly damaging |
Het |
| Plekhg5 |
T |
C |
4: 152,192,545 (GRCm39) |
|
probably null |
Het |
| Ppp3cb |
A |
G |
14: 20,581,820 (GRCm39) |
V65A |
possibly damaging |
Het |
| Rheb |
A |
T |
5: 25,022,832 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
G |
A |
10: 51,977,899 (GRCm39) |
T1449M |
probably damaging |
Het |
| Septin4 |
T |
C |
11: 87,458,172 (GRCm39) |
L182S |
probably damaging |
Het |
| Stx2 |
A |
G |
5: 129,076,572 (GRCm39) |
|
probably null |
Het |
| Tnxb |
T |
A |
17: 34,892,299 (GRCm39) |
D764E |
probably damaging |
Het |
| Trmt2a |
A |
T |
16: 18,068,707 (GRCm39) |
E234D |
probably damaging |
Het |
|
| Other mutations in Slc6a12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00922:Slc6a12
|
APN |
6 |
121,337,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02066:Slc6a12
|
APN |
6 |
121,329,015 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02146:Slc6a12
|
APN |
6 |
121,330,460 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02475:Slc6a12
|
APN |
6 |
121,331,334 (GRCm39) |
splice site |
probably null |
|
|
IGL02498:Slc6a12
|
APN |
6 |
121,338,029 (GRCm39) |
missense |
probably benign |
|
|
IGL02537:Slc6a12
|
APN |
6 |
121,337,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02696:Slc6a12
|
APN |
6 |
121,340,211 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03255:Slc6a12
|
APN |
6 |
121,331,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03397:Slc6a12
|
APN |
6 |
121,334,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0050:Slc6a12
|
UTSW |
6 |
121,337,378 (GRCm39) |
splice site |
probably benign |
|
|
R0201:Slc6a12
|
UTSW |
6 |
121,332,331 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0255:Slc6a12
|
UTSW |
6 |
121,333,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0302:Slc6a12
|
UTSW |
6 |
121,340,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0317:Slc6a12
|
UTSW |
6 |
121,335,584 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0394:Slc6a12
|
UTSW |
6 |
121,323,957 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0492:Slc6a12
|
UTSW |
6 |
121,332,331 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0532:Slc6a12
|
UTSW |
6 |
121,333,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0550:Slc6a12
|
UTSW |
6 |
121,333,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0551:Slc6a12
|
UTSW |
6 |
121,333,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1421:Slc6a12
|
UTSW |
6 |
121,336,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1487:Slc6a12
|
UTSW |
6 |
121,340,716 (GRCm39) |
nonsense |
probably null |
|
|
R1879:Slc6a12
|
UTSW |
6 |
121,324,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1905:Slc6a12
|
UTSW |
6 |
121,324,402 (GRCm39) |
nonsense |
probably null |
|
|
R1925:Slc6a12
|
UTSW |
6 |
121,337,485 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3944:Slc6a12
|
UTSW |
6 |
121,331,239 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4515:Slc6a12
|
UTSW |
6 |
121,330,489 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4559:Slc6a12
|
UTSW |
6 |
121,340,820 (GRCm39) |
splice site |
probably null |
|
|
R4628:Slc6a12
|
UTSW |
6 |
121,328,951 (GRCm39) |
nonsense |
probably null |
|
|
R4665:Slc6a12
|
UTSW |
6 |
121,335,972 (GRCm39) |
splice site |
probably benign |
|
|
R4753:Slc6a12
|
UTSW |
6 |
121,333,862 (GRCm39) |
splice site |
probably benign |
|
|
R4948:Slc6a12
|
UTSW |
6 |
121,332,281 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5517:Slc6a12
|
UTSW |
6 |
121,331,298 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6717:Slc6a12
|
UTSW |
6 |
121,331,262 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7139:Slc6a12
|
UTSW |
6 |
121,342,278 (GRCm39) |
missense |
probably benign |
|
|
R7318:Slc6a12
|
UTSW |
6 |
121,328,978 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7318:Slc6a12
|
UTSW |
6 |
121,328,972 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8310:Slc6a12
|
UTSW |
6 |
121,340,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8703:Slc6a12
|
UTSW |
6 |
121,324,447 (GRCm39) |
missense |
probably benign |
|
|
R9218:Slc6a12
|
UTSW |
6 |
121,335,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9648:Slc6a12
|
UTSW |
6 |
121,335,661 (GRCm39) |
nonsense |
probably null |
|
|
R9682:Slc6a12
|
UTSW |
6 |
121,340,704 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Slc6a12
|
UTSW |
6 |
121,340,786 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Slc6a12
|
UTSW |
6 |
121,342,231 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Slc6a12
|
UTSW |
6 |
121,333,926 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGACATGCACAGAATCTCATAGAC -3'
(R):5'- CCAGGCTAAAGACTCGAACCATAGTG -3'
Sequencing Primer
(F):5'- cacagacacacatagatacacac -3'
(R):5'- CTCCGGTCAGGGAGAAGG -3'
|
| Posted On |
2014-08-11 |
Incidental Mutation