Incidental Mutation 'IGL03255:Slc6a12'
| ID |
414616 |
| 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 # |
IGL03255
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
121320035-121342734 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 121331246 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 166
(C166G)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000032200
AA Change: C180G
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000032200
Gene: ENSMUSG00000030109
AA Change: C180G
| 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 |
possibly damaging
Transcript: ENSMUST00000166457
AA Change: C166G
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126937
Gene: ENSMUSG00000030109
AA Change: C166G
| 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 damaging
Transcript: ENSMUST00000171008
AA Change: C166G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126708
Gene: ENSMUSG00000030109
AA Change: C166G
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012P17Rik |
A |
G |
1: 158,796,921 (GRCm39) |
|
noncoding transcript |
Het |
| Alpk3 |
A |
G |
7: 80,742,310 (GRCm39) |
D709G |
probably benign |
Het |
| Capn3 |
G |
T |
2: 120,320,189 (GRCm39) |
R309L |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,884,086 (GRCm39) |
I398V |
possibly damaging |
Het |
| Cps1 |
T |
A |
1: 67,184,960 (GRCm39) |
Y162* |
probably null |
Het |
| Defa26 |
A |
T |
8: 22,108,257 (GRCm39) |
D20V |
probably damaging |
Het |
| Defa39 |
T |
C |
8: 22,193,534 (GRCm39) |
T29A |
possibly damaging |
Het |
| Dnah8 |
T |
G |
17: 30,960,355 (GRCm39) |
L2244R |
probably damaging |
Het |
| Fhad1 |
T |
A |
4: 141,700,191 (GRCm39) |
N353I |
possibly damaging |
Het |
| Flt1 |
T |
A |
5: 147,525,331 (GRCm39) |
|
probably benign |
Het |
| Glyr1 |
G |
A |
16: 4,866,621 (GRCm39) |
|
probably null |
Het |
| Gm10220 |
A |
G |
5: 26,321,899 (GRCm39) |
S258P |
possibly damaging |
Het |
| Lama3 |
A |
T |
18: 12,672,760 (GRCm39) |
D845V |
probably damaging |
Het |
| Myh2 |
T |
A |
11: 67,084,051 (GRCm39) |
L1558Q |
probably damaging |
Het |
| Nelfb |
G |
T |
2: 25,093,207 (GRCm39) |
H482N |
probably benign |
Het |
| Or5ae1 |
T |
C |
7: 84,565,725 (GRCm39) |
L246P |
possibly damaging |
Het |
| Or5p58 |
A |
G |
7: 107,694,024 (GRCm39) |
V251A |
probably damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,732,368 (GRCm39) |
T972A |
possibly damaging |
Het |
| Slc5a4a |
G |
A |
10: 75,986,346 (GRCm39) |
V85M |
probably damaging |
Het |
| Tm7sf3 |
T |
C |
6: 146,507,618 (GRCm39) |
|
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,682,894 (GRCm39) |
|
probably benign |
Het |
| Tmod2 |
T |
C |
9: 75,484,540 (GRCm39) |
|
probably benign |
Het |
| Tmprss11c |
T |
A |
5: 86,419,341 (GRCm39) |
I73F |
probably damaging |
Het |
| Vmn1r10 |
A |
G |
6: 57,090,911 (GRCm39) |
M168V |
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,461,131 (GRCm39) |
M819K |
probably benign |
Het |
| Vmo1 |
C |
T |
11: 70,405,236 (GRCm39) |
|
probably null |
Het |
| Ywhab |
A |
G |
2: 163,855,936 (GRCm39) |
D104G |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation