Incidental Mutation 'IGL00335:Slc6a7'
ID3312
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: 0.119) question?
Stock #IGL00335
Quality Score
Status
Chromosome18
Chromosomal Location60995381-61014199 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 61001609 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 465 (V465M)
Ref Sequence ENSEMBL: ENSMUSP00000025520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025520]
Predicted Effect possibly damaging
Transcript: ENSMUST00000025520
AA Change: V465M

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000025520
Gene: ENSMUSG00000052026
AA Change: V465M

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
1700048O20Rik C A 9: 121,940,767 noncoding transcript Het
4930579F01Rik C A 3: 138,186,198 probably benign Het
Aurkc T A 7: 6,996,548 I18N probably damaging Het
Bace1 T C 9: 45,839,290 probably null Het
Chrne C T 11: 70,615,762 V311I probably benign Het
Cyp2c70 C T 19: 40,167,576 V177M probably damaging Het
Dusp10 A G 1: 184,069,131 E365G probably benign Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Fcgbp C A 7: 28,086,135 N332K possibly damaging Het
Irx4 T C 13: 73,268,691 V402A probably benign Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Lama3 A G 18: 12,449,588 probably benign Het
Lrrc8b T C 5: 105,480,499 I237T probably damaging Het
Mepe G T 5: 104,337,977 G328C probably damaging Het
Numb A G 12: 83,808,132 I129T probably damaging Het
Olfr193 T C 16: 59,110,598 D4G probably benign Het
Olfr799 T C 10: 129,647,437 I103T probably benign Het
Osmr T C 15: 6,837,023 D390G probably benign Het
Pglyrp3 G A 3: 92,022,679 V51I probably damaging Het
Phactr2 T C 10: 13,245,535 T470A probably damaging Het
Psmg1 G A 16: 95,980,068 T259I possibly damaging Het
Rtl3 T C X: 106,838,937 T240A probably benign Het
Ryr1 C T 7: 29,124,960 probably null Het
Slc10a6 A G 5: 103,609,125 S258P probably benign Het
Slc1a6 T C 10: 78,801,813 L391P probably damaging Het
Sost T C 11: 101,966,879 D32G probably damaging Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Tifab A G 13: 56,176,469 S54P probably damaging Het
Tmem211 A G 5: 113,236,003 R96G probably benign Het
Tnrc6a T A 7: 123,170,780 S598T probably benign Het
Vmn2r1 T A 3: 64,105,388 I890N probably damaging Het
Wapl A G 14: 34,692,636 D485G probably benign Het
Wee2 A T 6: 40,462,061 I373F probably damaging Het
Xkr6 A G 14: 63,819,215 T192A probably damaging Het
Zfp638 A G 6: 83,979,718 D1769G probably damaging Het
Other mutations in Slc6a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Slc6a7 APN 18 61001291 critical splice donor site probably null
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