Incidental Mutation 'IGL02705:Slc6a7'
| ID |
304318 |
| 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: 0.109)
|
| Stock # |
IGL02705
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
61128452-61147294 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 61142500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 71
(G71R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025520
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025520]
|
| AlphaFold |
Q6PGE7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025520
AA Change: G71R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025520
Gene: ENSMUSG00000052026
AA Change: G71R
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025G04Rik |
A |
G |
1: 151,791,264 (GRCm39) |
F99S |
probably damaging |
Het |
| Ankrd17 |
G |
A |
5: 90,430,974 (GRCm39) |
P937S |
probably benign |
Het |
| Apom |
T |
G |
17: 35,349,471 (GRCm39) |
|
probably null |
Het |
| Baz2b |
A |
G |
2: 59,778,604 (GRCm39) |
I752T |
possibly damaging |
Het |
| Bcat1 |
T |
C |
6: 144,964,914 (GRCm39) |
|
probably benign |
Het |
| Bcl9 |
A |
G |
3: 97,112,181 (GRCm39) |
F1425L |
possibly damaging |
Het |
| Bco1 |
G |
A |
8: 117,844,242 (GRCm39) |
V319M |
possibly damaging |
Het |
| Dmwd |
C |
A |
7: 18,814,769 (GRCm39) |
T473K |
probably benign |
Het |
| Garin4 |
T |
C |
1: 190,896,499 (GRCm39) |
Y48C |
probably damaging |
Het |
| Gata2 |
C |
T |
6: 88,182,346 (GRCm39) |
A438V |
possibly damaging |
Het |
| Ifnz |
A |
G |
4: 88,701,574 (GRCm39) |
|
probably benign |
Het |
| Myh14 |
T |
C |
7: 44,257,960 (GRCm39) |
I1859V |
possibly damaging |
Het |
| Ndn |
A |
G |
7: 61,998,856 (GRCm39) |
D234G |
probably damaging |
Het |
| Nfe2l3 |
T |
C |
6: 51,410,098 (GRCm39) |
L71P |
probably damaging |
Het |
| Nfia |
T |
G |
4: 97,671,605 (GRCm39) |
L105R |
probably damaging |
Het |
| Npy2r |
T |
A |
3: 82,448,056 (GRCm39) |
T127S |
probably benign |
Het |
| Or51a8 |
T |
C |
7: 102,550,449 (GRCm39) |
Y292H |
probably damaging |
Het |
| Or7g12 |
T |
A |
9: 18,899,696 (GRCm39) |
N137K |
probably benign |
Het |
| Ppip5k2 |
A |
T |
1: 97,686,924 (GRCm39) |
C94S |
probably damaging |
Het |
| Pramel26 |
A |
G |
4: 143,537,372 (GRCm39) |
S320P |
probably damaging |
Het |
| Slc1a6 |
T |
C |
10: 78,637,788 (GRCm39) |
V438A |
probably damaging |
Het |
| Styk1 |
C |
T |
6: 131,289,546 (GRCm39) |
V23I |
probably benign |
Het |
| Tmprss5 |
C |
A |
9: 49,018,447 (GRCm39) |
N92K |
probably benign |
Het |
| Trpm6 |
T |
G |
19: 18,754,097 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,677,114 (GRCm39) |
|
probably benign |
Het |
| Tut7 |
A |
G |
13: 59,937,017 (GRCm39) |
F808S |
probably damaging |
Het |
| Vmn2r109 |
G |
A |
17: 20,774,062 (GRCm39) |
A431V |
probably benign |
Het |
| Wdr17 |
C |
T |
8: 55,101,250 (GRCm39) |
|
probably null |
Het |
| Zfp407 |
G |
T |
18: 84,577,156 (GRCm39) |
S1319* |
probably null |
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 |
|
IGL01476:Slc6a7
|
APN |
18 |
61,138,845 (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 |
2015-04-16 |
Incidental Mutation