Incidental Mutation 'IGL00433:Slc6a7'
ID |
3313 |
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 # |
IGL00433
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
61128452-61147294 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 61134363 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025520
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025520]
|
AlphaFold |
Q6PGE7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000025520
|
SMART Domains |
Protein: ENSMUSP00000025520 Gene: ENSMUSG00000052026
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
G |
A |
15: 94,292,522 (GRCm39) |
A196V |
probably benign |
Het |
BC024139 |
A |
G |
15: 76,009,300 (GRCm39) |
V238A |
probably benign |
Het |
Bfar |
G |
A |
16: 13,516,827 (GRCm39) |
D350N |
probably benign |
Het |
C4b |
A |
T |
17: 34,961,015 (GRCm39) |
F217Y |
possibly damaging |
Het |
Camk1g |
T |
C |
1: 193,029,657 (GRCm39) |
|
probably benign |
Het |
Camkmt |
A |
G |
17: 85,404,094 (GRCm39) |
|
probably benign |
Het |
Cass4 |
T |
C |
2: 172,258,170 (GRCm39) |
L56P |
probably damaging |
Het |
Ccs |
A |
G |
19: 4,875,636 (GRCm39) |
I243T |
possibly damaging |
Het |
Cds2 |
T |
C |
2: 132,139,213 (GRCm39) |
V152A |
probably damaging |
Het |
Chd1l |
T |
C |
3: 97,497,921 (GRCm39) |
N307D |
probably damaging |
Het |
Cmtm2b |
T |
C |
8: 105,057,078 (GRCm39) |
I146T |
possibly damaging |
Het |
Cntnap3 |
T |
C |
13: 64,920,545 (GRCm39) |
Y608C |
probably damaging |
Het |
Cog5 |
A |
G |
12: 31,735,703 (GRCm39) |
R157G |
probably damaging |
Het |
Csmd1 |
A |
C |
8: 16,281,387 (GRCm39) |
F713V |
probably damaging |
Het |
Csrp3 |
T |
C |
7: 48,480,440 (GRCm39) |
N175D |
probably benign |
Het |
Exoc4 |
A |
G |
6: 33,273,723 (GRCm39) |
D176G |
probably damaging |
Het |
Fbxo10 |
T |
C |
4: 45,058,684 (GRCm39) |
D351G |
probably damaging |
Het |
Gm12185 |
A |
T |
11: 48,798,049 (GRCm39) |
S815T |
probably benign |
Het |
Gpld1 |
A |
G |
13: 25,170,905 (GRCm39) |
|
probably benign |
Het |
Hspa2 |
T |
C |
12: 76,453,123 (GRCm39) |
C606R |
possibly damaging |
Het |
Leo1 |
C |
T |
9: 75,357,762 (GRCm39) |
|
probably benign |
Het |
Mta3 |
C |
T |
17: 84,015,861 (GRCm39) |
P21L |
probably damaging |
Het |
Pkn1 |
T |
C |
8: 84,407,635 (GRCm39) |
E471G |
probably damaging |
Het |
Postn |
C |
T |
3: 54,281,149 (GRCm39) |
R425C |
probably damaging |
Het |
Reln |
A |
G |
5: 22,250,007 (GRCm39) |
L676P |
probably damaging |
Het |
Sin3a |
G |
A |
9: 57,005,185 (GRCm39) |
V362M |
probably damaging |
Het |
Smc6 |
A |
T |
12: 11,349,264 (GRCm39) |
D749V |
possibly damaging |
Het |
Smg5 |
C |
T |
3: 88,258,735 (GRCm39) |
Q569* |
probably null |
Het |
Sspo |
G |
A |
6: 48,466,970 (GRCm39) |
C4130Y |
probably damaging |
Het |
Tlcd3a |
T |
C |
11: 76,098,817 (GRCm39) |
F164L |
probably damaging |
Het |
Tnn |
A |
T |
1: 159,925,776 (GRCm39) |
|
probably benign |
Het |
Tomt |
C |
T |
7: 101,551,393 (GRCm39) |
R29H |
probably benign |
Het |
Uggt2 |
A |
T |
14: 119,250,899 (GRCm39) |
D1199E |
probably benign |
Het |
Usp33 |
A |
G |
3: 152,079,046 (GRCm39) |
K433E |
probably benign |
Het |
Vmn2r89 |
A |
G |
14: 51,692,422 (GRCm39) |
Y75C |
probably damaging |
Het |
Wnt7a |
C |
T |
6: 91,342,973 (GRCm39) |
G303D |
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 |
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 |
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 |
2012-04-20 |