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 |
Gabt2, BGT1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02475
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
121320035-121342734 bp(+) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
T to A
at 121331334 bp (GRCm39)
|
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: 146,119,343 (GRCm39) |
|
probably benign |
Het |
5730409E04Rik |
A |
G |
4: 126,505,742 (GRCm39) |
E90G |
probably damaging |
Het |
Abhd6 |
T |
A |
14: 8,039,849 (GRCm38) |
I27N |
probably damaging |
Het |
Akap6 |
A |
T |
12: 53,186,277 (GRCm39) |
E1230D |
probably benign |
Het |
Bcl2l12 |
A |
G |
7: 44,646,317 (GRCm39) |
V31A |
possibly damaging |
Het |
Cep350 |
G |
A |
1: 155,738,341 (GRCm39) |
R2501W |
probably damaging |
Het |
Cnga3 |
A |
G |
1: 37,297,072 (GRCm39) |
|
probably null |
Het |
Crcp |
T |
C |
5: 130,088,699 (GRCm39) |
|
probably benign |
Het |
Creb5 |
G |
A |
6: 53,670,909 (GRCm39) |
S304N |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,219,296 (GRCm39) |
D38G |
probably benign |
Het |
Fam171a1 |
A |
G |
2: 3,224,527 (GRCm39) |
I293V |
possibly damaging |
Het |
Fbxw10 |
T |
C |
11: 62,748,561 (GRCm39) |
V396A |
possibly damaging |
Het |
Gm10340 |
G |
A |
14: 14,832,274 (GRCm39) |
|
probably benign |
Het |
Grik3 |
A |
G |
4: 125,544,310 (GRCm39) |
T344A |
probably benign |
Het |
Itga7 |
T |
C |
10: 128,769,958 (GRCm39) |
F34S |
probably damaging |
Het |
Musk |
T |
C |
4: 58,353,936 (GRCm39) |
|
probably benign |
Het |
Neb |
G |
T |
2: 52,182,831 (GRCm39) |
N1038K |
probably damaging |
Het |
Nf1 |
T |
C |
11: 79,426,493 (GRCm39) |
Y1636H |
probably damaging |
Het |
Ngef |
G |
T |
1: 87,406,872 (GRCm39) |
T632K |
possibly damaging |
Het |
Nme1nme2 |
A |
G |
11: 93,846,400 (GRCm39) |
V16A |
probably damaging |
Het |
Nts |
A |
G |
10: 102,326,108 (GRCm39) |
|
probably benign |
Het |
Olfml2b |
A |
G |
1: 170,509,743 (GRCm39) |
D697G |
probably damaging |
Het |
Or5ac23 |
A |
T |
16: 59,149,088 (GRCm39) |
H261Q |
probably benign |
Het |
Or5m8 |
T |
C |
2: 85,822,376 (GRCm39) |
F72L |
probably benign |
Het |
Or9i1 |
T |
A |
19: 13,839,663 (GRCm39) |
C169S |
probably damaging |
Het |
Otof |
T |
C |
5: 30,534,026 (GRCm39) |
R1428G |
probably damaging |
Het |
Pgghg |
T |
C |
7: 140,525,633 (GRCm39) |
S479P |
|
Het |
Rnaseh2b |
T |
A |
14: 62,584,064 (GRCm39) |
F37I |
probably damaging |
Het |
Rtn4 |
T |
A |
11: 29,683,801 (GRCm39) |
I1031N |
probably damaging |
Het |
Rxfp2 |
A |
G |
5: 149,987,151 (GRCm39) |
E344G |
probably benign |
Het |
Scel |
A |
G |
14: 103,774,444 (GRCm39) |
R89G |
possibly damaging |
Het |
Sirt4 |
T |
C |
5: 115,621,055 (GRCm39) |
E39G |
probably benign |
Het |
Snapc3 |
C |
A |
4: 83,368,333 (GRCm39) |
H277N |
probably benign |
Het |
Susd2 |
A |
G |
10: 75,473,333 (GRCm39) |
|
probably null |
Het |
Tagap1 |
T |
C |
17: 7,223,826 (GRCm39) |
Q290R |
probably benign |
Het |
Tenm3 |
A |
T |
8: 48,732,233 (GRCm39) |
|
probably benign |
Het |
Tmem54 |
A |
T |
4: 129,002,073 (GRCm39) |
H40L |
probably damaging |
Het |
Tnks1bp1 |
T |
C |
2: 84,889,721 (GRCm39) |
S683P |
probably damaging |
Het |
Tnpo2 |
A |
G |
8: 85,777,131 (GRCm39) |
D547G |
probably benign |
Het |
Tpd52l2 |
G |
A |
2: 181,141,667 (GRCm39) |
V17M |
probably benign |
Het |
Trip11 |
T |
A |
12: 101,861,942 (GRCm39) |
T208S |
probably benign |
Het |
Ttc17 |
C |
A |
2: 94,194,721 (GRCm39) |
D551Y |
probably damaging |
Het |
Ttll12 |
A |
T |
15: 83,471,302 (GRCm39) |
W222R |
probably damaging |
Het |
Xkr8 |
A |
T |
4: 132,455,512 (GRCm39) |
I287N |
probably damaging |
Het |
Zdhhc2 |
G |
T |
8: 40,926,066 (GRCm39) |
G354C |
probably null |
Het |
Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
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 |
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 |
|
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 |
|
Posted On |
2015-04-16 |