Incidental Mutation 'IGL00433:Slc6a7'
ID3313
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc6a7
Ensembl Gene ENSMUSG00000052026
Gene Namesolute carrier family 6 (neurotransmitter transporter, L-proline), member 7
SynonymsProt
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.131) question?
Stock #IGL00433
Quality Score
Status
Chromosome18
Chromosomal Location60995381-61014199 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 61001291 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025520]
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: 94,394,641 A196V probably benign Het
BC024139 A G 15: 76,125,100 V238A probably benign Het
Bfar G A 16: 13,698,963 D350N probably benign Het
C4b A T 17: 34,742,041 F217Y possibly damaging Het
Camk1g T C 1: 193,347,349 probably benign Het
Camkmt A G 17: 85,096,666 probably benign Het
Cass4 T C 2: 172,416,250 L56P probably damaging Het
Ccs A G 19: 4,825,608 I243T possibly damaging Het
Cds2 T C 2: 132,297,293 V152A probably damaging Het
Chd1l T C 3: 97,590,605 N307D probably damaging Het
Cmtm2b T C 8: 104,330,446 I146T possibly damaging Het
Cntnap3 T C 13: 64,772,731 Y608C probably damaging Het
Cog5 A G 12: 31,685,704 R157G probably damaging Het
Csmd1 A C 8: 16,231,373 F713V probably damaging Het
Csrp3 T C 7: 48,830,692 N175D probably benign Het
Exoc4 A G 6: 33,296,788 D176G probably damaging Het
Fam57a T C 11: 76,207,991 F164L probably damaging Het
Fbxo10 T C 4: 45,058,684 D351G probably damaging Het
Gm12185 A T 11: 48,907,222 S815T probably benign Het
Gpld1 A G 13: 24,986,922 probably benign Het
Hspa2 T C 12: 76,406,349 C606R possibly damaging Het
Leo1 C T 9: 75,450,480 probably benign Het
Mta3 C T 17: 83,708,432 P21L probably damaging Het
Pkn1 T C 8: 83,681,006 E471G probably damaging Het
Postn C T 3: 54,373,728 R425C probably damaging Het
Reln A G 5: 22,045,009 L676P probably damaging Het
Sin3a G A 9: 57,097,901 V362M probably damaging Het
Smc6 A T 12: 11,299,263 D749V possibly damaging Het
Smg5 C T 3: 88,351,428 Q569* probably null Het
Sspo G A 6: 48,490,036 C4130Y probably damaging Het
Tnn A T 1: 160,098,206 probably benign Het
Tomt C T 7: 101,902,186 R29H probably benign Het
Uggt2 A T 14: 119,013,487 D1199E probably benign Het
Usp33 A G 3: 152,373,409 K433E probably benign Het
Vmn2r89 A G 14: 51,454,965 Y75C probably damaging Het
Wnt7a C T 6: 91,365,991 G303D probably damaging Het
Other mutations in Slc6a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Slc6a7 APN 18 61001609 missense possibly damaging 0.88
IGL01391:Slc6a7 APN 18 61003310 missense probably damaging 1.00
IGL01476:Slc6a7 APN 18 61005773 missense probably damaging 1.00
IGL02705:Slc6a7 APN 18 61009428 missense probably damaging 1.00
R0106:Slc6a7 UTSW 18 61002223 missense probably benign 0.04
R0106:Slc6a7 UTSW 18 61002223 missense probably benign 0.04
R0147:Slc6a7 UTSW 18 61002111 splice site probably benign
R0267:Slc6a7 UTSW 18 60996711 missense probably benign 0.00
R1349:Slc6a7 UTSW 18 61000543 missense probably benign 0.03
R1498:Slc6a7 UTSW 18 60996692 missense probably benign 0.02
R1874:Slc6a7 UTSW 18 61001398 splice site probably benign
R2005:Slc6a7 UTSW 18 61001641 missense possibly damaging 0.68
R3051:Slc6a7 UTSW 18 61009517 missense probably damaging 0.96
R3970:Slc6a7 UTSW 18 61003345 missense possibly damaging 0.94
R4573:Slc6a7 UTSW 18 61002181 missense probably benign 0.20
R4835:Slc6a7 UTSW 18 61002205 missense probably benign 0.04
R4942:Slc6a7 UTSW 18 61004517 missense probably damaging 1.00
R5112:Slc6a7 UTSW 18 61007376 missense probably null 0.04
R5426:Slc6a7 UTSW 18 61003236 splice site probably null
R6168:Slc6a7 UTSW 18 61001662 missense probably benign 0.18
R6312:Slc6a7 UTSW 18 61002385 missense probably benign 0.12
R6489:Slc6a7 UTSW 18 61007543 missense probably damaging 1.00
R7131:Slc6a7 UTSW 18 61002202 missense probably damaging 1.00
R7460:Slc6a7 UTSW 18 61001602 missense probably benign 0.02
R7556:Slc6a7 UTSW 18 61007442 nonsense probably null
R7740:Slc6a7 UTSW 18 61000423 missense possibly damaging 0.90
R7793:Slc6a7 UTSW 18 61005779 missense probably damaging 1.00
Posted On2012-04-20