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) question?
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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