Incidental Mutation 'IGL02475:Slc6a12'
| ID |
294925 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc6a12
|
| Ensembl Gene |
ENSMUSG00000030109 |
| Gene Name |
solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 |
| Synonyms |
BGT1, Gabt2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02475
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
121343076-121365775 bp(+) (GRCm38) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 121354375 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032200]
[ENSMUST00000163771]
[ENSMUST00000165456]
[ENSMUST00000166390]
[ENSMUST00000166457]
[ENSMUST00000171008]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
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: ENSMUST00000166390
|
| SMART Domains |
Protein: ENSMUSP00000128217
Gene: ENSMUSG00000030109
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
52 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
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 null
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 |
|
| Validation Efficiency |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
A |
T |
5: 146,182,533 (GRCm38) |
|
probably benign |
Het |
| 5730409E04Rik |
A |
G |
4: 126,611,949 (GRCm38) |
E90G |
probably damaging |
Het |
| Abhd6 |
T |
A |
14: 8,039,849 (GRCm38) |
I27N |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,139,494 (GRCm38) |
E1230D |
probably benign |
Het |
| Bcl2l12 |
A |
G |
7: 44,996,893 (GRCm38) |
V31A |
possibly damaging |
Het |
| Cep350 |
G |
A |
1: 155,862,595 (GRCm38) |
R2501W |
probably damaging |
Het |
| Cnga3 |
A |
G |
1: 37,257,991 (GRCm38) |
|
probably null |
Het |
| Crcp |
T |
C |
5: 130,059,858 (GRCm38) |
|
probably benign |
Het |
| Creb5 |
G |
A |
6: 53,693,924 (GRCm38) |
S304N |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,401,492 (GRCm38) |
G219V |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,219,150 (GRCm38) |
D38G |
probably benign |
Het |
| Fam171a1 |
A |
G |
2: 3,223,490 (GRCm38) |
I293V |
possibly damaging |
Het |
| Fbxw10 |
T |
C |
11: 62,857,735 (GRCm38) |
V396A |
possibly damaging |
Het |
| Gm10340 |
G |
A |
14: 3,140,482 (GRCm38) |
|
probably benign |
Het |
| Gm20390 |
A |
G |
11: 93,955,574 (GRCm38) |
V16A |
probably damaging |
Het |
| Grik3 |
A |
G |
4: 125,650,517 (GRCm38) |
T344A |
probably benign |
Het |
| Itga7 |
T |
C |
10: 128,934,089 (GRCm38) |
F34S |
probably damaging |
Het |
| Musk |
T |
C |
4: 58,353,936 (GRCm38) |
|
probably benign |
Het |
| Neb |
G |
T |
2: 52,292,819 (GRCm38) |
N1038K |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,535,667 (GRCm38) |
Y1636H |
probably damaging |
Het |
| Ngef |
G |
T |
1: 87,479,150 (GRCm38) |
T632K |
possibly damaging |
Het |
| Nts |
A |
G |
10: 102,490,247 (GRCm38) |
|
probably benign |
Het |
| Olfml2b |
A |
G |
1: 170,682,174 (GRCm38) |
D697G |
probably damaging |
Het |
| Olfr1031 |
T |
C |
2: 85,992,032 (GRCm38) |
F72L |
probably benign |
Het |
| Olfr1502 |
T |
A |
19: 13,862,299 (GRCm38) |
C169S |
probably damaging |
Het |
| Olfr205 |
A |
T |
16: 59,328,725 (GRCm38) |
H261Q |
probably benign |
Het |
| Otof |
T |
C |
5: 30,376,682 (GRCm38) |
R1428G |
probably damaging |
Het |
| Pgghg |
T |
C |
7: 140,945,720 (GRCm38) |
S479P |
|
Het |
| Rnaseh2b |
T |
A |
14: 62,346,615 (GRCm38) |
F37I |
probably damaging |
Het |
| Rtn4 |
T |
A |
11: 29,733,801 (GRCm38) |
I1031N |
probably damaging |
Het |
| Rxfp2 |
A |
G |
5: 150,063,686 (GRCm38) |
E344G |
probably benign |
Het |
| Scel |
A |
G |
14: 103,537,008 (GRCm38) |
R89G |
possibly damaging |
Het |
| Sirt4 |
T |
C |
5: 115,482,996 (GRCm38) |
E39G |
probably benign |
Het |
| Snapc3 |
C |
A |
4: 83,450,096 (GRCm38) |
H277N |
probably benign |
Het |
| Susd2 |
A |
G |
10: 75,637,499 (GRCm38) |
|
probably null |
Het |
| Tagap1 |
T |
C |
17: 6,956,427 (GRCm38) |
Q290R |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,279,198 (GRCm38) |
|
probably benign |
Het |
| Tmem54 |
A |
T |
4: 129,108,280 (GRCm38) |
H40L |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 85,059,377 (GRCm38) |
S683P |
probably damaging |
Het |
| Tnpo2 |
A |
G |
8: 85,050,502 (GRCm38) |
D547G |
probably benign |
Het |
| Tpd52l2 |
G |
A |
2: 181,499,874 (GRCm38) |
V17M |
probably benign |
Het |
| Trip11 |
T |
A |
12: 101,895,683 (GRCm38) |
T208S |
probably benign |
Het |
| Ttc17 |
C |
A |
2: 94,364,376 (GRCm38) |
D551Y |
probably damaging |
Het |
| Ttll12 |
A |
T |
15: 83,587,101 (GRCm38) |
W222R |
probably damaging |
Het |
| Xkr8 |
A |
T |
4: 132,728,201 (GRCm38) |
I287N |
probably damaging |
Het |
| Zdhhc2 |
G |
T |
8: 40,473,025 (GRCm38) |
G354C |
probably null |
Het |
| Zfp13 |
C |
T |
17: 23,576,098 (GRCm38) |
A493T |
probably benign |
Het |
|
| Other mutations in Slc6a12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00922:Slc6a12
|
APN |
6 |
121,360,455 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02066:Slc6a12
|
APN |
6 |
121,352,056 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02146:Slc6a12
|
APN |
6 |
121,353,501 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02498:Slc6a12
|
APN |
6 |
121,361,070 (GRCm38) |
missense |
probably benign |
|
|
IGL02537:Slc6a12
|
APN |
6 |
121,360,514 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02696:Slc6a12
|
APN |
6 |
121,363,252 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03255:Slc6a12
|
APN |
6 |
121,354,287 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03397:Slc6a12
|
APN |
6 |
121,357,045 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0050:Slc6a12
|
UTSW |
6 |
121,360,419 (GRCm38) |
splice site |
probably benign |
|
|
R0050:Slc6a12
|
UTSW |
6 |
121,360,419 (GRCm38) |
splice site |
probably benign |
|
|
R0201:Slc6a12
|
UTSW |
6 |
121,355,372 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0255:Slc6a12
|
UTSW |
6 |
121,356,918 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0302:Slc6a12
|
UTSW |
6 |
121,363,259 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0317:Slc6a12
|
UTSW |
6 |
121,358,625 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R0394:Slc6a12
|
UTSW |
6 |
121,346,998 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0492:Slc6a12
|
UTSW |
6 |
121,355,372 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0532:Slc6a12
|
UTSW |
6 |
121,356,918 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0550:Slc6a12
|
UTSW |
6 |
121,356,918 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0551:Slc6a12
|
UTSW |
6 |
121,356,918 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1421:Slc6a12
|
UTSW |
6 |
121,359,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1487:Slc6a12
|
UTSW |
6 |
121,363,757 (GRCm38) |
nonsense |
probably null |
|
|
R1879:Slc6a12
|
UTSW |
6 |
121,347,423 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1905:Slc6a12
|
UTSW |
6 |
121,347,443 (GRCm38) |
nonsense |
probably null |
|
|
R1925:Slc6a12
|
UTSW |
6 |
121,360,526 (GRCm38) |
missense |
probably benign |
0.44 |
|
R3944:Slc6a12
|
UTSW |
6 |
121,354,280 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4515:Slc6a12
|
UTSW |
6 |
121,353,530 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4559:Slc6a12
|
UTSW |
6 |
121,363,861 (GRCm38) |
splice site |
probably null |
|
|
R4628:Slc6a12
|
UTSW |
6 |
121,351,992 (GRCm38) |
nonsense |
probably null |
|
|
R4665:Slc6a12
|
UTSW |
6 |
121,359,013 (GRCm38) |
splice site |
probably benign |
|
|
R4753:Slc6a12
|
UTSW |
6 |
121,356,903 (GRCm38) |
splice site |
probably benign |
|
|
R4948:Slc6a12
|
UTSW |
6 |
121,355,322 (GRCm38) |
missense |
probably benign |
0.35 |
|
R5517:Slc6a12
|
UTSW |
6 |
121,354,339 (GRCm38) |
missense |
probably benign |
0.10 |
|
R6717:Slc6a12
|
UTSW |
6 |
121,354,303 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7139:Slc6a12
|
UTSW |
6 |
121,365,319 (GRCm38) |
missense |
probably benign |
|
|
R7318:Slc6a12
|
UTSW |
6 |
121,352,019 (GRCm38) |
missense |
probably benign |
0.26 |
|
R7318:Slc6a12
|
UTSW |
6 |
121,352,013 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8310:Slc6a12
|
UTSW |
6 |
121,363,291 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8703:Slc6a12
|
UTSW |
6 |
121,347,488 (GRCm38) |
missense |
probably benign |
|
|
R9218:Slc6a12
|
UTSW |
6 |
121,358,664 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9648:Slc6a12
|
UTSW |
6 |
121,358,702 (GRCm38) |
nonsense |
probably null |
|
|
R9682:Slc6a12
|
UTSW |
6 |
121,363,745 (GRCm38) |
missense |
probably benign |
|
|
Z1176:Slc6a12
|
UTSW |
6 |
121,363,827 (GRCm38) |
missense |
probably benign |
|
|
Z1177:Slc6a12
|
UTSW |
6 |
121,365,272 (GRCm38) |
missense |
probably benign |
0.02 |
|
Z1177:Slc6a12
|
UTSW |
6 |
121,356,967 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2015-04-16 |
Incidental Mutation