Incidental Mutation 'IGL01391:Slc6a7'
ID79194
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: 0.102) question?
Stock #IGL01391
Quality Score
Status
Chromosome18
Chromosomal Location60995381-61014199 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 61003310 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 340 (A340S)
Ref Sequence ENSEMBL: ENSMUSP00000025520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025520]
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

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3m2 T A 8: 22,799,647 I147F probably benign Het
Areg T A 5: 91,141,095 S87T probably damaging Het
Arid1b T A 17: 5,318,858 probably benign Het
Arl6ip6 A G 2: 53,192,144 R8G probably benign Het
Brms1 A G 19: 5,046,695 E135G possibly damaging Het
Ccser1 A G 6: 61,638,521 probably benign Het
Dock3 A T 9: 106,907,234 M258K possibly damaging Het
Epb41l4a T G 18: 33,801,625 D562A possibly damaging Het
Etaa1 G A 11: 17,946,005 T704I probably damaging Het
Fer1l4 T A 2: 156,036,456 H972L probably damaging Het
Foxn1 A G 11: 78,361,494 M356T probably damaging Het
Gfral C A 9: 76,164,825 G388* probably null Het
Gm10436 C T 12: 88,178,455 V34I possibly damaging Het
Gm12258 A G 11: 58,848,694 T3A probably benign Het
Hoxa5 T C 6: 52,204,331 N7S probably damaging Het
Itgb4 T C 11: 115,990,920 L765P probably damaging Het
Jchain C T 5: 88,521,524 C90Y probably damaging Het
Klhl40 A G 9: 121,778,917 Y381C probably damaging Het
Lhx6 A T 2: 36,103,465 C74S probably benign Het
Magel2 A G 7: 62,380,884 S1179G unknown Het
Mapre3 T C 5: 30,864,897 I236T probably damaging Het
Mcf2l A T 8: 13,014,010 probably null Het
Med13 A T 11: 86,328,497 H374Q probably benign Het
Meioc A G 11: 102,674,287 Y187C probably benign Het
Myh1 G A 11: 67,217,863 M1368I probably benign Het
Olfr304 A T 7: 86,386,000 I220N possibly damaging Het
Olfr921 A G 9: 38,775,530 I92V probably damaging Het
Phrf1 T C 7: 141,262,481 Y1501H probably damaging Het
Pigb T C 9: 73,022,291 T337A probably damaging Het
Pls1 T C 9: 95,773,698 K334E probably benign Het
Rab3b T C 4: 108,940,802 C226R probably damaging Het
Ryr2 A T 13: 11,556,685 I4889N possibly damaging Het
Serpinb1a G A 13: 32,845,415 S210L probably benign Het
Slc52a3 A G 2: 152,007,602 I390V probably benign Het
Tcaf3 T C 6: 42,593,681 Y379C probably damaging Het
Tex261 A G 6: 83,771,240 V180A probably benign Het
Tnnt1 C T 7: 4,514,212 probably null Het
Ttn T C 2: 76,968,503 T476A possibly damaging Het
Vcan A G 13: 89,704,169 S891P probably benign Het
Vmn2r16 T A 5: 109,363,761 D611E possibly damaging Het
Vmn2r68 T C 7: 85,237,611 T32A probably benign Het
Vwde T G 6: 13,190,527 S522R probably benign Het
Wdr3 G A 3: 100,146,789 probably benign Het
Wfs1 G T 5: 36,971,563 Q288K probably benign Het
Zfp142 A G 1: 74,579,540 V120A probably damaging Het
Zfp672 A G 11: 58,317,366 F43S probably damaging Het
Znhit3 A T 11: 84,911,457 probably benign Het
Other mutations in Slc6a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Slc6a7 APN 18 61001609 missense possibly damaging 0.88
IGL00433:Slc6a7 APN 18 61001291 critical splice donor site probably null
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
R8183:Slc6a7 UTSW 18 61007376 missense probably null 0.04
Posted On2013-11-05