Incidental Mutation 'IGL01391:Slc6a7'
| ID |
79194 |
| 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 # |
IGL01391
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
61128452-61147294 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 61136382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 340
(A340S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025520
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025520]
|
| AlphaFold |
Q6PGE7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025520
AA Change: A340S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025520
Gene: ENSMUSG00000052026
AA Change: A340S
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3m2 |
T |
A |
8: 23,289,663 (GRCm39) |
I147F |
probably benign |
Het |
| Areg |
T |
A |
5: 91,288,954 (GRCm39) |
S87T |
probably damaging |
Het |
| Arid1b |
T |
A |
17: 5,369,133 (GRCm39) |
|
probably benign |
Het |
| Arl6ip6 |
A |
G |
2: 53,082,156 (GRCm39) |
R8G |
probably benign |
Het |
| Brms1 |
A |
G |
19: 5,096,723 (GRCm39) |
E135G |
possibly damaging |
Het |
| Ccser1 |
A |
G |
6: 61,615,505 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
A |
T |
9: 106,784,433 (GRCm39) |
M258K |
possibly damaging |
Het |
| Epb41l4a |
T |
G |
18: 33,934,678 (GRCm39) |
D562A |
possibly damaging |
Het |
| Etaa1 |
G |
A |
11: 17,896,005 (GRCm39) |
T704I |
probably damaging |
Het |
| Fer1l4 |
T |
A |
2: 155,878,376 (GRCm39) |
H972L |
probably damaging |
Het |
| Foxn1 |
A |
G |
11: 78,252,320 (GRCm39) |
M356T |
probably damaging |
Het |
| Gfral |
C |
A |
9: 76,072,107 (GRCm39) |
G388* |
probably null |
Het |
| Gm12258 |
A |
G |
11: 58,739,520 (GRCm39) |
T3A |
probably benign |
Het |
| Hoxa5 |
T |
C |
6: 52,181,311 (GRCm39) |
N7S |
probably damaging |
Het |
| Itgb4 |
T |
C |
11: 115,881,746 (GRCm39) |
L765P |
probably damaging |
Het |
| Jchain |
C |
T |
5: 88,669,383 (GRCm39) |
C90Y |
probably damaging |
Het |
| Klhl40 |
A |
G |
9: 121,607,983 (GRCm39) |
Y381C |
probably damaging |
Het |
| Lhx6 |
A |
T |
2: 35,993,477 (GRCm39) |
C74S |
probably benign |
Het |
| Magel2 |
A |
G |
7: 62,030,632 (GRCm39) |
S1179G |
unknown |
Het |
| Mapre3 |
T |
C |
5: 31,022,241 (GRCm39) |
I236T |
probably damaging |
Het |
| Mcf2l |
A |
T |
8: 13,064,010 (GRCm39) |
|
probably null |
Het |
| Med13 |
A |
T |
11: 86,219,323 (GRCm39) |
H374Q |
probably benign |
Het |
| Meioc |
A |
G |
11: 102,565,113 (GRCm39) |
Y187C |
probably benign |
Het |
| Myh1 |
G |
A |
11: 67,108,689 (GRCm39) |
M1368I |
probably benign |
Het |
| Or14a258 |
A |
T |
7: 86,035,208 (GRCm39) |
I220N |
possibly damaging |
Het |
| Or8b54 |
A |
G |
9: 38,686,826 (GRCm39) |
I92V |
probably damaging |
Het |
| Phrf1 |
T |
C |
7: 140,842,394 (GRCm39) |
Y1501H |
probably damaging |
Het |
| Pigb |
T |
C |
9: 72,929,573 (GRCm39) |
T337A |
probably damaging |
Het |
| Pls1 |
T |
C |
9: 95,655,751 (GRCm39) |
K334E |
probably benign |
Het |
| Pramel51 |
C |
T |
12: 88,145,225 (GRCm39) |
V34I |
possibly damaging |
Het |
| Rab3b |
T |
C |
4: 108,797,999 (GRCm39) |
C226R |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,571,571 (GRCm39) |
I4889N |
possibly damaging |
Het |
| Serpinb1a |
G |
A |
13: 33,029,398 (GRCm39) |
S210L |
probably benign |
Het |
| Slc52a3 |
A |
G |
2: 151,849,522 (GRCm39) |
I390V |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,570,615 (GRCm39) |
Y379C |
probably damaging |
Het |
| Tex261 |
A |
G |
6: 83,748,222 (GRCm39) |
V180A |
probably benign |
Het |
| Tnnt1 |
C |
T |
7: 4,517,211 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,798,847 (GRCm39) |
T476A |
possibly damaging |
Het |
| Vcan |
A |
G |
13: 89,852,288 (GRCm39) |
S891P |
probably benign |
Het |
| Vmn2r16 |
T |
A |
5: 109,511,627 (GRCm39) |
D611E |
possibly damaging |
Het |
| Vmn2r68 |
T |
C |
7: 84,886,819 (GRCm39) |
T32A |
probably benign |
Het |
| Vwde |
T |
G |
6: 13,190,526 (GRCm39) |
S522R |
probably benign |
Het |
| Wdr3 |
G |
A |
3: 100,054,105 (GRCm39) |
|
probably benign |
Het |
| Wfs1 |
G |
T |
5: 37,128,907 (GRCm39) |
Q288K |
probably benign |
Het |
| Zfp142 |
A |
G |
1: 74,618,699 (GRCm39) |
V120A |
probably damaging |
Het |
| Zfp672 |
A |
G |
11: 58,208,192 (GRCm39) |
F43S |
probably damaging |
Het |
| Znhit3 |
A |
T |
11: 84,802,283 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
2013-11-05 |
Incidental Mutation