Incidental Mutation 'IGL02537:Slc6a12'
| ID |
297547 |
| 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 # |
IGL02537
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
121320035-121342734 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 121337473 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 386
(I386F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126937
(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
AA Change: I400F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000032200
Gene: ENSMUSG00000030109
AA Change: I400F
| 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
AA Change: I386F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000126937
Gene: ENSMUSG00000030109
AA Change: I386F
| 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
AA Change: I386F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126708
Gene: ENSMUSG00000030109
AA Change: I386F
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
| Alx3 |
T |
A |
3: 107,512,175 (GRCm39) |
M271K |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,749,565 (GRCm39) |
E488G |
probably damaging |
Het |
| Arsk |
T |
A |
13: 76,223,025 (GRCm39) |
R191* |
probably null |
Het |
| B230217C12Rik |
T |
C |
11: 97,733,011 (GRCm39) |
S111P |
possibly damaging |
Het |
| Bckdhb |
A |
G |
9: 83,871,194 (GRCm39) |
I158V |
probably benign |
Het |
| Bub1 |
G |
A |
2: 127,643,267 (GRCm39) |
Q1026* |
probably null |
Het |
| C8a |
A |
G |
4: 104,703,148 (GRCm39) |
M303T |
probably damaging |
Het |
| Cftr |
A |
G |
6: 18,274,596 (GRCm39) |
T905A |
probably benign |
Het |
| Ciao3 |
C |
T |
17: 25,997,916 (GRCm39) |
|
probably benign |
Het |
| Col14a1 |
A |
T |
15: 55,208,310 (GRCm39) |
K132* |
probably null |
Het |
| Depdc5 |
T |
A |
5: 33,125,131 (GRCm39) |
L531Q |
probably damaging |
Het |
| Dzip1 |
G |
A |
14: 119,146,988 (GRCm39) |
|
probably benign |
Het |
| F5 |
C |
A |
1: 164,020,686 (GRCm39) |
L1054I |
probably benign |
Het |
| Gm4353 |
A |
T |
7: 115,682,987 (GRCm39) |
I198N |
probably damaging |
Het |
| Il1a |
T |
A |
2: 129,150,996 (GRCm39) |
E9V |
probably damaging |
Het |
| Irag1 |
A |
T |
7: 110,470,680 (GRCm39) |
Y678* |
probably null |
Het |
| Kif15 |
A |
G |
9: 122,822,914 (GRCm39) |
T432A |
probably benign |
Het |
| Kndc1 |
T |
C |
7: 139,490,326 (GRCm39) |
V276A |
probably benign |
Het |
| Or2aj5 |
A |
T |
16: 19,424,549 (GRCm39) |
Y290N |
probably damaging |
Het |
| Or4a74 |
A |
C |
2: 89,439,739 (GRCm39) |
S236A |
possibly damaging |
Het |
| Or6n2 |
A |
T |
1: 173,897,020 (GRCm39) |
D52V |
possibly damaging |
Het |
| Palld |
T |
C |
8: 62,137,968 (GRCm39) |
S596G |
probably benign |
Het |
| Pdc |
A |
T |
1: 150,208,760 (GRCm39) |
D81V |
possibly damaging |
Het |
| Plcd4 |
A |
G |
1: 74,595,209 (GRCm39) |
K361R |
possibly damaging |
Het |
| Plekhm1 |
T |
A |
11: 103,288,018 (GRCm39) |
D43V |
probably damaging |
Het |
| Prpf31 |
G |
T |
7: 3,641,750 (GRCm39) |
G356C |
probably damaging |
Het |
| Rbpj |
T |
A |
5: 53,799,485 (GRCm39) |
I100K |
probably damaging |
Het |
| Rufy3 |
A |
G |
5: 88,788,521 (GRCm39) |
|
probably benign |
Het |
| Slc40a1 |
C |
T |
1: 45,950,553 (GRCm39) |
V300I |
probably benign |
Het |
| Strip1 |
C |
T |
3: 107,524,210 (GRCm39) |
R569H |
possibly damaging |
Het |
| Tep1 |
A |
T |
14: 51,073,570 (GRCm39) |
D1996E |
probably damaging |
Het |
| Tmem68 |
A |
G |
4: 3,569,649 (GRCm39) |
S14P |
possibly damaging |
Het |
| Trav12-1 |
C |
A |
14: 53,775,980 (GRCm39) |
C44* |
probably null |
Het |
| Uba1 |
G |
A |
X: 20,544,902 (GRCm39) |
R693H |
possibly damaging |
Het |
| Ugt2b38 |
T |
C |
5: 87,569,590 (GRCm39) |
T246A |
possibly damaging |
Het |
| Usp24 |
A |
G |
4: 106,249,564 (GRCm39) |
Y1427C |
probably damaging |
Het |
| Vmn2r78 |
A |
T |
7: 86,603,496 (GRCm39) |
Y558F |
probably damaging |
Het |
| Wdr54 |
A |
G |
6: 83,130,372 (GRCm39) |
W221R |
possibly damaging |
Het |
| Xpo4 |
T |
C |
14: 57,831,290 (GRCm39) |
T773A |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zfp518a |
T |
A |
19: 40,903,874 (GRCm39) |
S1268T |
probably benign |
Het |
| Znfx1 |
T |
C |
2: 166,898,087 (GRCm39) |
D279G |
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 |
|
|
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 |
Incidental Mutation