Incidental Mutation 'IGL03395:Slc6a17'
ID 421224
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc6a17
Ensembl Gene ENSMUSG00000027894
Gene Name solute carrier family 6 (neurotransmitter transporter), member 17
Synonyms NTT4, D130012J15Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.256) question?
Stock # IGL03395
Quality Score
Status
Chromosome 3
Chromosomal Location 107374864-107425334 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107384622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 285 (D285G)
Ref Sequence ENSEMBL: ENSMUSP00000131888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029499] [ENSMUST00000168211] [ENSMUST00000169449]
AlphaFold Q8BJI1
Predicted Effect probably damaging
Transcript: ENSMUST00000029499
AA Change: D326G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029499
Gene: ENSMUSG00000027894
AA Change: D326G

DomainStartEndE-ValueType
Pfam:SNF 60 640 2.7e-227 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000168211
AA Change: D285G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000131888
Gene: ENSMUSG00000027894
AA Change: D285G

DomainStartEndE-ValueType
Pfam:SNF 19 602 1.3e-225 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000169449
AA Change: D326G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129379
Gene: ENSMUSG00000027894
AA Change: D326G

DomainStartEndE-ValueType
Pfam:SNF 60 643 1.1e-225 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170429
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the SLC6 family of transporters, which are responsible for the presynaptic uptake of most neurotransmitters. The encoded vesicular transporter is selective for proline, glycine, leucine and alanine. Defects in this gene are a cause of autosomal recessive mental retardation-48. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 A G 11: 102,663,746 (GRCm39) D308G probably damaging Het
Adgrg3 A T 8: 95,761,701 (GRCm39) I155F probably damaging Het
Ado T C 10: 67,384,368 (GRCm39) Y79C probably benign Het
Aox1 T C 1: 58,107,884 (GRCm39) probably benign Het
Bicd2 T A 13: 49,528,734 (GRCm39) D165E probably damaging Het
Ccdc124 A C 8: 71,321,251 (GRCm39) M163R probably benign Het
Ceacam5 T C 7: 17,479,304 (GRCm39) probably benign Het
Cenpq A G 17: 41,234,449 (GRCm39) L247P probably damaging Het
Crat A G 2: 30,294,978 (GRCm39) V479A probably benign Het
Egfr T C 11: 16,860,261 (GRCm39) probably benign Het
Elapor2 A T 5: 9,472,359 (GRCm39) Q352L probably damaging Het
Emc9 C T 14: 55,822,197 (GRCm39) A72T probably benign Het
Fbxo5 G A 10: 5,751,935 (GRCm39) S226F probably benign Het
Gm42688 A C 6: 83,085,352 (GRCm39) E737D possibly damaging Het
Got1l1 G T 8: 27,690,885 (GRCm39) H54Q probably benign Het
Grid2 G A 6: 63,886,053 (GRCm39) V150I possibly damaging Het
Klc4 C T 17: 46,943,789 (GRCm39) V506M probably damaging Het
Lrrc8c A G 5: 105,754,495 (GRCm39) N90S probably benign Het
Lrrk2 T A 15: 91,681,617 (GRCm39) probably null Het
Mbd6 G A 10: 127,119,286 (GRCm39) R950C probably damaging Het
Nol11 A G 11: 107,066,548 (GRCm39) V414A probably benign Het
Or7e178 A T 9: 20,225,847 (GRCm39) M123K probably damaging Het
Pcnt T C 10: 76,272,325 (GRCm39) E177G possibly damaging Het
Pcnx2 G T 8: 126,614,262 (GRCm39) D396E probably benign Het
Pcyt2 A T 11: 120,503,876 (GRCm39) probably null Het
Pds5a T C 5: 65,809,792 (GRCm39) D390G possibly damaging Het
Pik3r2 T C 8: 71,224,999 (GRCm39) T155A probably benign Het
Rab31 T A 17: 66,003,362 (GRCm39) H95L probably benign Het
Rfx5 C T 3: 94,865,113 (GRCm39) R259* probably null Het
Spats2l A T 1: 57,977,175 (GRCm39) I318F probably damaging Het
Spef1l G T 7: 139,556,589 (GRCm39) probably benign Het
Tcf12 A G 9: 71,783,304 (GRCm39) S361P probably damaging Het
Other mutations in Slc6a17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02432:Slc6a17 APN 3 107,400,493 (GRCm39) missense possibly damaging 0.56
IGL02514:Slc6a17 APN 3 107,402,993 (GRCm39) missense possibly damaging 0.94
BB002:Slc6a17 UTSW 3 107,403,056 (GRCm39) missense probably damaging 1.00
BB012:Slc6a17 UTSW 3 107,403,056 (GRCm39) missense probably damaging 1.00
R0454:Slc6a17 UTSW 3 107,384,183 (GRCm39) missense probably benign 0.12
R1201:Slc6a17 UTSW 3 107,400,388 (GRCm39) missense possibly damaging 0.90
R1551:Slc6a17 UTSW 3 107,379,443 (GRCm39) missense possibly damaging 0.85
R1681:Slc6a17 UTSW 3 107,381,702 (GRCm39) missense probably damaging 1.00
R1721:Slc6a17 UTSW 3 107,379,492 (GRCm39) missense probably damaging 1.00
R1765:Slc6a17 UTSW 3 107,380,895 (GRCm39) missense possibly damaging 0.95
R1867:Slc6a17 UTSW 3 107,379,492 (GRCm39) missense probably damaging 1.00
R2167:Slc6a17 UTSW 3 107,398,817 (GRCm39) nonsense probably null
R3708:Slc6a17 UTSW 3 107,400,401 (GRCm39) missense probably benign
R3814:Slc6a17 UTSW 3 107,378,633 (GRCm39) missense possibly damaging 0.92
R4639:Slc6a17 UTSW 3 107,381,597 (GRCm39) missense probably benign
R4807:Slc6a17 UTSW 3 107,407,803 (GRCm39) missense possibly damaging 0.90
R5048:Slc6a17 UTSW 3 107,378,753 (GRCm39) nonsense probably null
R6076:Slc6a17 UTSW 3 107,379,387 (GRCm39) missense possibly damaging 0.67
R6326:Slc6a17 UTSW 3 107,407,722 (GRCm39) missense probably damaging 0.98
R6713:Slc6a17 UTSW 3 107,378,703 (GRCm39) missense probably benign 0.00
R7073:Slc6a17 UTSW 3 107,378,755 (GRCm39) missense probably benign 0.00
R7097:Slc6a17 UTSW 3 107,400,464 (GRCm39) missense probably damaging 1.00
R7323:Slc6a17 UTSW 3 107,398,794 (GRCm39) missense probably benign 0.01
R7597:Slc6a17 UTSW 3 107,378,668 (GRCm39) missense possibly damaging 0.89
R7755:Slc6a17 UTSW 3 107,381,671 (GRCm39) missense probably damaging 1.00
R7841:Slc6a17 UTSW 3 107,384,214 (GRCm39) missense possibly damaging 0.69
R7925:Slc6a17 UTSW 3 107,403,056 (GRCm39) missense probably damaging 1.00
R8041:Slc6a17 UTSW 3 107,381,744 (GRCm39) missense probably damaging 1.00
R8305:Slc6a17 UTSW 3 107,380,901 (GRCm39) missense probably benign 0.31
R8306:Slc6a17 UTSW 3 107,380,985 (GRCm39) missense probably benign
R8488:Slc6a17 UTSW 3 107,384,574 (GRCm39) missense possibly damaging 0.84
R8930:Slc6a17 UTSW 3 107,379,507 (GRCm39) missense probably benign 0.19
R8932:Slc6a17 UTSW 3 107,379,507 (GRCm39) missense probably benign 0.19
R9287:Slc6a17 UTSW 3 107,384,551 (GRCm39) missense probably damaging 1.00
R9483:Slc6a17 UTSW 3 107,378,772 (GRCm39) missense possibly damaging 0.50
R9601:Slc6a17 UTSW 3 107,380,930 (GRCm39) missense possibly damaging 0.95
R9617:Slc6a17 UTSW 3 107,384,685 (GRCm39) missense probably damaging 1.00
X0010:Slc6a17 UTSW 3 107,400,422 (GRCm39) missense probably benign 0.05
X0062:Slc6a17 UTSW 3 107,407,684 (GRCm39) missense probably null 1.00
Z1176:Slc6a17 UTSW 3 107,384,082 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02