Incidental Mutation 'IGL02066:Slc6a12'
| ID |
185656 |
| 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 # |
IGL02066
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
121320035-121342734 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121329015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 111
(I111N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032200]
[ENSMUST00000163771]
[ENSMUST00000165456]
[ENSMUST00000166390]
[ENSMUST00000166457]
[ENSMUST00000168295]
[ENSMUST00000171008]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032200
AA Change: I125N
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000032200
Gene: ENSMUSG00000030109
AA Change: I125N
| 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: I111N
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126937
Gene: ENSMUSG00000030109
AA Change: I111N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
36 |
561 |
2.5e-242 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168295
|
| SMART Domains |
Protein: ENSMUSP00000129389
Gene: ENSMUSG00000030109
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
36 |
63 |
2.7e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170582
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171008
AA Change: I111N
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126708
Gene: ENSMUSG00000030109
AA Change: I111N
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,626,854 (GRCm39) |
C569S |
probably damaging |
Het |
| Adck5 |
T |
C |
15: 76,479,406 (GRCm39) |
V487A |
probably damaging |
Het |
| Agfg1 |
A |
G |
1: 82,871,279 (GRCm39) |
T483A |
probably damaging |
Het |
| Akr1c12 |
T |
C |
13: 4,326,236 (GRCm39) |
T82A |
probably damaging |
Het |
| Ano2 |
T |
A |
6: 125,667,702 (GRCm39) |
L6Q |
probably benign |
Het |
| Anp32a |
G |
A |
9: 62,284,615 (GRCm39) |
|
probably benign |
Het |
| Bltp2 |
G |
A |
11: 78,164,058 (GRCm39) |
R1133H |
probably damaging |
Het |
| Cep250 |
C |
A |
2: 155,818,441 (GRCm39) |
A871D |
probably damaging |
Het |
| Chl1 |
T |
C |
6: 103,675,185 (GRCm39) |
V624A |
probably benign |
Het |
| Clasp1 |
G |
A |
1: 118,492,990 (GRCm39) |
|
probably null |
Het |
| Clca3a2 |
T |
G |
3: 144,519,216 (GRCm39) |
D320A |
probably benign |
Het |
| Cnot9 |
A |
G |
1: 74,566,212 (GRCm39) |
Q201R |
possibly damaging |
Het |
| Cox4i2 |
C |
T |
2: 152,602,602 (GRCm39) |
R99C |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 15,976,594 (GRCm39) |
F2875I |
probably damaging |
Het |
| Dpagt1 |
A |
G |
9: 44,243,203 (GRCm39) |
Y246C |
probably damaging |
Het |
| Dsc1 |
A |
G |
18: 20,241,860 (GRCm39) |
|
probably benign |
Het |
| Eef1d |
G |
A |
15: 75,768,704 (GRCm39) |
T464I |
probably benign |
Het |
| Efna2 |
C |
T |
10: 80,024,500 (GRCm39) |
|
probably benign |
Het |
| Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
| Etaa1 |
C |
A |
11: 17,896,687 (GRCm39) |
V477L |
probably benign |
Het |
| Fam83d |
C |
T |
2: 158,627,793 (GRCm39) |
T494M |
probably benign |
Het |
| Fbxo24 |
C |
T |
5: 137,611,132 (GRCm39) |
V553M |
probably damaging |
Het |
| Gal3st2 |
A |
G |
1: 93,801,379 (GRCm39) |
T12A |
probably damaging |
Het |
| Gba2 |
G |
A |
4: 43,570,175 (GRCm39) |
T373I |
probably benign |
Het |
| Kitl |
T |
A |
10: 99,912,744 (GRCm39) |
C154S |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,001,091 (GRCm39) |
C2044* |
probably null |
Het |
| Lrp6 |
G |
T |
6: 134,427,900 (GRCm39) |
S1564* |
probably null |
Het |
| Manea |
A |
T |
4: 26,340,965 (GRCm39) |
|
probably benign |
Het |
| Myt1 |
T |
C |
2: 181,438,982 (GRCm39) |
L168P |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,350,408 (GRCm39) |
E2244G |
possibly damaging |
Het |
| Nsd3 |
T |
G |
8: 26,203,515 (GRCm39) |
V1343G |
probably damaging |
Het |
| Nup155 |
T |
C |
15: 8,187,250 (GRCm39) |
|
probably benign |
Het |
| Obox6 |
T |
C |
7: 15,568,628 (GRCm39) |
I83V |
probably benign |
Het |
| Or12k5 |
A |
T |
2: 36,895,321 (GRCm39) |
F102I |
probably damaging |
Het |
| Or13a24 |
A |
T |
7: 140,154,413 (GRCm39) |
T116S |
possibly damaging |
Het |
| Pdgfra |
T |
C |
5: 75,331,241 (GRCm39) |
V282A |
possibly damaging |
Het |
| Pkd1l2 |
A |
G |
8: 117,736,303 (GRCm39) |
|
probably benign |
Het |
| Pmfbp1 |
A |
T |
8: 110,268,365 (GRCm39) |
I971F |
possibly damaging |
Het |
| Ppp6c |
T |
C |
2: 39,089,683 (GRCm39) |
T199A |
probably benign |
Het |
| Ptpra |
A |
G |
2: 30,333,308 (GRCm39) |
T3A |
possibly damaging |
Het |
| Rb1 |
A |
T |
14: 73,435,974 (GRCm39) |
M897K |
probably benign |
Het |
| Rptn |
A |
C |
3: 93,304,436 (GRCm39) |
S590R |
probably benign |
Het |
| Rreb1 |
A |
G |
13: 38,115,482 (GRCm39) |
D947G |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,376,575 (GRCm39) |
T229A |
probably damaging |
Het |
| Slc5a9 |
A |
T |
4: 111,744,719 (GRCm39) |
M423K |
probably damaging |
Het |
| Slc6a15 |
T |
A |
10: 103,252,519 (GRCm39) |
L561I |
probably damaging |
Het |
| Spag5 |
A |
G |
11: 78,195,358 (GRCm39) |
N222D |
probably benign |
Het |
| Spp2 |
G |
A |
1: 88,344,965 (GRCm39) |
M54I |
probably benign |
Het |
| Sptbn4 |
T |
C |
7: 27,063,940 (GRCm39) |
E847G |
possibly damaging |
Het |
| Timd2 |
T |
A |
11: 46,569,050 (GRCm39) |
N203Y |
probably damaging |
Het |
| Togaram1 |
G |
T |
12: 65,030,195 (GRCm39) |
D1000Y |
probably damaging |
Het |
| Usp47 |
C |
T |
7: 111,663,604 (GRCm39) |
R258C |
probably damaging |
Het |
| Uts2r |
A |
C |
11: 121,051,523 (GRCm39) |
D129A |
probably damaging |
Het |
| Vmn2r102 |
G |
A |
17: 19,914,191 (GRCm39) |
M585I |
probably benign |
Het |
| Vmn2r77 |
A |
T |
7: 86,452,836 (GRCm39) |
R518* |
probably null |
Het |
| Wdfy4 |
C |
T |
14: 32,871,523 (GRCm39) |
R296K |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,356,415 (GRCm39) |
K3725N |
probably benign |
Het |
| Xntrpc |
T |
C |
7: 101,727,036 (GRCm39) |
S142P |
probably benign |
Het |
| Zfat |
T |
C |
15: 68,052,678 (GRCm39) |
H372R |
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 |
|
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation