Incidental Mutation 'R8488:Slc6a17'
ID 657836
Institutional Source Beutler Lab
Gene Symbol Slc6a17
Ensembl Gene ENSMUSG00000027894
Gene Name solute carrier family 6 (neurotransmitter transporter), member 17
Synonyms NTT4, D130012J15Rik
MMRRC Submission 067931-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.256) question?
Stock # R8488 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 107374864-107425334 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107384574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 342 (F342S)
Ref Sequence ENSEMBL: ENSMUSP00000129379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029499] [ENSMUST00000168211] [ENSMUST00000169449]
AlphaFold Q8BJI1
Predicted Effect possibly damaging
Transcript: ENSMUST00000029499
AA Change: F342S

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029499
Gene: ENSMUSG00000027894
AA Change: F342S

DomainStartEndE-ValueType
Pfam:SNF 60 640 2.7e-227 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000168211
AA Change: F301S

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000131888
Gene: ENSMUSG00000027894
AA Change: F301S

DomainStartEndE-ValueType
Pfam:SNF 19 602 1.3e-225 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000169449
AA Change: F342S

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000129379
Gene: ENSMUSG00000027894
AA Change: F342S

DomainStartEndE-ValueType
Pfam:SNF 60 643 1.1e-225 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (39/39)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actg1 A G 11: 120,238,517 (GRCm39) V160A possibly damaging Het
Anapc5 A G 5: 122,956,033 (GRCm39) *96Q probably null Het
Ano2 A G 6: 125,957,133 (GRCm39) Y634C probably damaging Het
Appl2 T C 10: 83,446,866 (GRCm39) K406R probably benign Het
Arhgef15 T A 11: 68,838,496 (GRCm39) probably null Het
Atp13a4 C A 16: 29,236,654 (GRCm39) E868D possibly damaging Het
BC005624 T C 2: 30,871,857 (GRCm39) K6E possibly damaging Het
Cd200l2 A G 16: 45,348,834 (GRCm39) Y113H probably damaging Het
Cenpe T A 3: 134,965,002 (GRCm39) I2024N probably damaging Het
Clint1 T G 11: 45,781,457 (GRCm39) Y176D probably damaging Het
Crxos T C 7: 15,637,625 (GRCm39) S65P possibly damaging Het
Cyp4f15 A G 17: 32,920,948 (GRCm39) T408A probably benign Het
Depdc1a A G 3: 159,229,512 (GRCm39) M615V probably damaging Het
Dpysl2 T C 14: 67,066,850 (GRCm39) I194M possibly damaging Het
Dsg2 A G 18: 20,734,431 (GRCm39) Y803C probably damaging Het
Dtd2 A G 12: 52,046,344 (GRCm39) L165P probably benign Het
Gabrb2 A T 11: 42,517,491 (GRCm39) S438C possibly damaging Het
Gjb5 C A 4: 127,250,078 (GRCm39) R22L probably damaging Het
Gls A G 1: 52,239,012 (GRCm39) probably null Het
Gm10800 AAGAAAACTGAAAATCAT A 2: 98,497,379 (GRCm39) probably benign Het
Gstt2 T A 10: 75,667,823 (GRCm39) S211C possibly damaging Het
Hck A G 2: 152,966,130 (GRCm39) K35E probably benign Het
Idh2 GGTCCCAG GG 7: 79,748,077 (GRCm39) probably benign Het
Igsf10 C T 3: 59,227,431 (GRCm39) G2081R probably damaging Het
Lrp1 C T 10: 127,396,356 (GRCm39) E2403K probably damaging Het
Or3a1 C T 11: 74,225,932 (GRCm39) V42I probably benign Het
Or6c3b T A 10: 129,527,343 (GRCm39) D189V probably damaging Het
Phlpp2 A T 8: 110,640,202 (GRCm39) M456L probably benign Het
Pnp2 A G 14: 51,201,836 (GRCm39) E274G possibly damaging Het
Pold3 T C 7: 99,738,938 (GRCm39) Y303C probably benign Het
Prr5 C T 15: 84,578,005 (GRCm39) R96C probably damaging Het
Repin1 A T 6: 48,570,952 (GRCm39) D2V probably damaging Het
Sec23b T A 2: 144,423,983 (GRCm39) V544E probably damaging Het
Slco4c1 T C 1: 96,759,736 (GRCm39) N532S probably benign Het
Slitrk3 T G 3: 72,958,520 (GRCm39) Y84S probably benign Het
Srcin1 T C 11: 97,416,686 (GRCm39) probably null Het
Syne2 C T 12: 76,012,546 (GRCm39) A2580V probably benign Het
Tex48 C T 4: 63,530,160 (GRCm39) E20K probably benign Het
Trip13 A T 13: 74,081,032 (GRCm39) N111K probably benign Het
Ugcg T A 4: 59,213,896 (GRCm39) N159K probably benign 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
IGL03395:Slc6a17 APN 3 107,384,622 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TCCACGAGCCTGTTCTTGTG -3'
(R):5'- GTGGGCACACGATTAAAACCATC -3'

Sequencing Primer
(F):5'- AGGAAGATGATGGTCTCATTCC -3'
(R):5'- CTCCCATGGTCATGCCCGTAG -3'
Posted On 2021-01-18