Incidental Mutation 'IGL01476:Slc6a7'
| ID |
88469 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc6a7
|
| Ensembl Gene |
ENSMUSG00000052026 |
| Gene Name |
solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 |
| Synonyms |
Prot |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
IGL01476
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
61128452-61147294 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 61138845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 221
(L221Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025520
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025520]
|
| AlphaFold |
Q6PGE7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025520
AA Change: L221Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025520
Gene: ENSMUSG00000052026
AA Change: L221Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
37 |
561 |
1.2e-231 |
PFAM |
|
low complexity region
|
623 |
634 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic properties, and ionic requirements. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,353,834 (GRCm39) |
T3719A |
probably damaging |
Het |
| Abcc10 |
A |
G |
17: 46,638,863 (GRCm39) |
|
probably benign |
Het |
| Atp13a2 |
G |
A |
4: 140,728,081 (GRCm39) |
C558Y |
probably damaging |
Het |
| Btbd1 |
G |
A |
7: 81,450,797 (GRCm39) |
R328* |
probably null |
Het |
| Cdk8 |
A |
G |
5: 146,231,973 (GRCm39) |
|
probably null |
Het |
| Chd8 |
A |
T |
14: 52,442,947 (GRCm39) |
N534K |
probably benign |
Het |
| Cybc1 |
T |
C |
11: 121,116,671 (GRCm39) |
Y86C |
probably damaging |
Het |
| Dlgap2 |
C |
T |
8: 14,828,301 (GRCm39) |
R570* |
probably null |
Het |
| Eri2 |
A |
C |
7: 119,389,472 (GRCm39) |
F149V |
probably damaging |
Het |
| Esyt1 |
A |
G |
10: 128,347,363 (GRCm39) |
M1054T |
probably damaging |
Het |
| Gcm2 |
A |
G |
13: 41,259,217 (GRCm39) |
V84A |
probably damaging |
Het |
| Got1 |
A |
C |
19: 43,512,848 (GRCm39) |
V16G |
probably damaging |
Het |
| Itga9 |
C |
T |
9: 118,436,179 (GRCm39) |
R62C |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,828,067 (GRCm39) |
R1232G |
possibly damaging |
Het |
| Map1a |
A |
G |
2: 121,135,688 (GRCm39) |
Y1930C |
probably damaging |
Het |
| Or1e25 |
T |
C |
11: 73,494,056 (GRCm39) |
S217P |
probably damaging |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Or2ag2b |
G |
A |
7: 106,417,827 (GRCm39) |
C179Y |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,571,122 (GRCm39) |
K169R |
probably damaging |
Het |
| Rnf169 |
A |
C |
7: 99,604,691 (GRCm39) |
Y174D |
probably damaging |
Het |
| Sarm1 |
T |
C |
11: 78,381,637 (GRCm39) |
E282G |
probably damaging |
Het |
| Sec24a |
A |
G |
11: 51,599,783 (GRCm39) |
S840P |
possibly damaging |
Het |
| Skor2 |
A |
T |
18: 76,946,362 (GRCm39) |
Q28L |
unknown |
Het |
| Slc35f2 |
T |
C |
9: 53,713,990 (GRCm39) |
V168A |
possibly damaging |
Het |
| Spata31e5 |
A |
T |
1: 28,816,534 (GRCm39) |
H499Q |
probably benign |
Het |
| Syt4 |
A |
T |
18: 31,574,696 (GRCm39) |
V307E |
probably damaging |
Het |
| Tasp1 |
A |
G |
2: 139,850,693 (GRCm39) |
L110S |
probably benign |
Het |
| Thnsl1 |
T |
A |
2: 21,216,970 (GRCm39) |
D241E |
probably benign |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Tpbpb |
A |
T |
13: 61,049,948 (GRCm39) |
D60E |
probably benign |
Het |
| Trip11 |
T |
C |
12: 101,865,170 (GRCm39) |
I168V |
probably damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Wscd2 |
A |
G |
5: 113,710,382 (GRCm39) |
D302G |
probably damaging |
Het |
|
| Other mutations in Slc6a7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00335:Slc6a7
|
APN |
18 |
61,134,681 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL00433:Slc6a7
|
APN |
18 |
61,134,363 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01391:Slc6a7
|
APN |
18 |
61,136,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02705:Slc6a7
|
APN |
18 |
61,142,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0106:Slc6a7
|
UTSW |
18 |
61,135,295 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0106:Slc6a7
|
UTSW |
18 |
61,135,295 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0147:Slc6a7
|
UTSW |
18 |
61,135,183 (GRCm39) |
splice site |
probably benign |
|
|
R0267:Slc6a7
|
UTSW |
18 |
61,129,783 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1349:Slc6a7
|
UTSW |
18 |
61,133,615 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1498:Slc6a7
|
UTSW |
18 |
61,129,764 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1874:Slc6a7
|
UTSW |
18 |
61,134,470 (GRCm39) |
splice site |
probably benign |
|
|
R2005:Slc6a7
|
UTSW |
18 |
61,134,713 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3051:Slc6a7
|
UTSW |
18 |
61,142,589 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3970:Slc6a7
|
UTSW |
18 |
61,136,417 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4573:Slc6a7
|
UTSW |
18 |
61,135,253 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4835:Slc6a7
|
UTSW |
18 |
61,135,277 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4942:Slc6a7
|
UTSW |
18 |
61,137,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5112:Slc6a7
|
UTSW |
18 |
61,140,448 (GRCm39) |
missense |
probably null |
0.04 |
|
R5426:Slc6a7
|
UTSW |
18 |
61,136,308 (GRCm39) |
splice site |
probably null |
|
|
R6168:Slc6a7
|
UTSW |
18 |
61,134,734 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6312:Slc6a7
|
UTSW |
18 |
61,135,457 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6489:Slc6a7
|
UTSW |
18 |
61,140,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7131:Slc6a7
|
UTSW |
18 |
61,135,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7460:Slc6a7
|
UTSW |
18 |
61,134,674 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7556:Slc6a7
|
UTSW |
18 |
61,140,514 (GRCm39) |
nonsense |
probably null |
|
|
R7740:Slc6a7
|
UTSW |
18 |
61,133,495 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7793:Slc6a7
|
UTSW |
18 |
61,138,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8183:Slc6a7
|
UTSW |
18 |
61,140,448 (GRCm39) |
missense |
probably null |
0.04 |
|
R9040:Slc6a7
|
UTSW |
18 |
61,134,360 (GRCm39) |
splice site |
probably benign |
|
|
R9192:Slc6a7
|
UTSW |
18 |
61,133,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9445:Slc6a7
|
UTSW |
18 |
61,138,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9792:Slc6a7
|
UTSW |
18 |
61,138,866 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9793:Slc6a7
|
UTSW |
18 |
61,138,866 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9795:Slc6a7
|
UTSW |
18 |
61,138,866 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Posted On |
2013-11-18 |
Incidental Mutation