Incidental Mutation 'R1296:Slc6a14'
ID 158164
Institutional Source Beutler Lab
Gene Symbol Slc6a14
Ensembl Gene ENSMUSG00000031089
Gene Name solute carrier family 6 (neurotransmitter transporter), member 14
Synonyms 9030613J17Rik, CATB0plus, 1110007A17Rik, ATB0plus
MMRRC Submission 039362-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # R1296 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 21581139-21608597 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 21587807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 122 (V122I)
Ref Sequence ENSEMBL: ENSMUSP00000033414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033414]
AlphaFold Q9JMA9
Predicted Effect probably benign
Transcript: ENSMUST00000033414
AA Change: V122I

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000033414
Gene: ENSMUSG00000031089
AA Change: V122I

DomainStartEndE-ValueType
Pfam:SNF 36 584 5.2e-198 PFAM
Meta Mutation Damage Score 0.0608 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.5%
  • 20x: 87.1%
Validation Efficiency 100% (72/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the solute carrier family 6. Members of this family are sodium and chloride dependent neurotransmitter transporters. The encoded protein transports both neutral and cationic amino acids. This protein may also function as a beta-alanine carrier. Mutations in this gene may be associated with X-linked obesity. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, May 2010]
PHENOTYPE: Mice hemizygous or homozygous for a null allele are viable, fertile and overtly normal. Homozygous females show normal plasma amino acid levels and mammary gland development but exhibit delayed development and reduced growth of mammary tumors in spontaneous mouse models of breast cancer. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 G A 8: 56,324,754 (GRCm39) Q567* probably null Het
Apol11a T C 15: 77,395,219 (GRCm39) probably benign Het
Arhgap29 A G 3: 121,786,044 (GRCm39) H275R probably benign Het
Arhgef17 C A 7: 100,530,476 (GRCm39) E428* probably null Het
Atm A T 9: 53,367,830 (GRCm39) V2431E probably damaging Het
Atn1 G T 6: 124,724,750 (GRCm39) P161Q unknown Het
Atp13a2 T C 4: 140,721,113 (GRCm39) S99P probably damaging Het
Atp8a1 A T 5: 67,780,049 (GRCm39) probably benign Het
Cdk18 T C 1: 132,047,698 (GRCm39) probably benign Het
Cep85 A G 4: 133,894,711 (GRCm39) W32R probably damaging Het
Cntn4 G T 6: 106,486,363 (GRCm39) G264C probably damaging Het
Col6a4 A G 9: 105,940,052 (GRCm39) S1293P possibly damaging Het
Col6a6 T C 9: 105,658,290 (GRCm39) K641E probably damaging Het
Dmd A T X: 82,922,126 (GRCm39) K1465N probably damaging Het
Dus2 T C 8: 106,779,675 (GRCm39) V403A possibly damaging Het
Frs2 C T 10: 116,916,979 (GRCm39) C5Y probably benign Het
Gm5174 A G 10: 86,492,866 (GRCm39) noncoding transcript Het
Gpr61 A G 3: 108,057,797 (GRCm39) V288A possibly damaging Het
Grik3 G A 4: 125,598,357 (GRCm39) probably benign Het
Haao T A 17: 84,146,267 (GRCm39) Q69L probably benign Het
Ints6 T C 14: 62,942,352 (GRCm39) probably benign Het
Ints8 T C 4: 11,221,204 (GRCm39) I724V possibly damaging Het
Lrrk2 G A 15: 91,613,123 (GRCm39) C749Y probably damaging Het
Map4k1 A G 7: 28,697,877 (GRCm39) D471G possibly damaging Het
Mbtd1 A G 11: 93,801,185 (GRCm39) Y122C probably damaging Het
Mif-ps9 T A 19: 56,743,766 (GRCm39) noncoding transcript Het
Mrfap1 A G 5: 36,953,817 (GRCm39) S41P possibly damaging Het
Mrm2 T C 5: 140,314,308 (GRCm39) T176A probably benign Het
Mslnl T C 17: 25,962,214 (GRCm39) L204P probably damaging Het
Muc6 T C 7: 141,238,144 (GRCm39) E112G probably benign Het
Nfyb A G 10: 82,586,665 (GRCm39) probably benign Het
Nlgn3 T C X: 100,352,522 (GRCm39) probably benign Het
Nr3c1 G A 18: 39,620,051 (GRCm39) Q79* probably null Het
Nxpe4 C G 9: 48,307,793 (GRCm39) T299R probably benign Het
Otud4 C A 8: 80,400,603 (GRCm39) H1105N unknown Het
Pcnx2 A G 8: 126,500,572 (GRCm39) L1506P probably damaging Het
Prl2c5 T A 13: 13,364,009 (GRCm39) H88Q probably damaging Het
Psmb2 A G 4: 126,580,825 (GRCm39) Y73C probably damaging Het
Rbl1 A T 2: 157,011,891 (GRCm39) V688D probably benign Het
Rhox2g C A X: 36,824,865 (GRCm39) probably benign Het
Rmnd5a G A 6: 71,375,439 (GRCm39) L80F probably benign Het
Ryr2 T C 13: 11,702,765 (GRCm39) probably benign Het
Sele T A 1: 163,878,379 (GRCm39) S239R probably damaging Het
Siglecf A T 7: 43,005,344 (GRCm39) R435* probably null Het
Slc23a1 C T 18: 35,755,676 (GRCm39) V407M possibly damaging Het
Spdl1 T A 11: 34,704,434 (GRCm39) E466D unknown Het
Stau2 A G 1: 16,510,596 (GRCm39) F121L probably benign Het
Stxbp1 A T 2: 32,684,648 (GRCm39) S594T probably benign Het
Sufu G A 19: 46,443,159 (GRCm39) probably benign Het
Tap2 G T 17: 34,430,889 (GRCm39) V330L probably benign Het
Tbc1d1 T C 5: 64,421,775 (GRCm39) L389P probably damaging Het
Tbx2 A G 11: 85,725,592 (GRCm39) E181G probably damaging Het
Tlcd4 A G 3: 121,000,940 (GRCm39) V231A probably benign Het
Tmprss9 G T 10: 80,726,279 (GRCm39) A510S probably benign Het
Tnxb G A 17: 34,890,551 (GRCm39) C298Y probably damaging Het
Tril G T 6: 53,795,012 (GRCm39) R737S probably damaging Het
Ugt2a3 A T 5: 87,475,005 (GRCm39) L413Q probably damaging Het
Vcan A G 13: 89,805,675 (GRCm39) I2335T probably damaging Het
Vmn2r28 T C 7: 5,484,544 (GRCm39) N552S possibly damaging Het
Zc3h7a C T 16: 10,978,890 (GRCm39) R95H probably damaging Het
Zfp598 A G 17: 24,898,623 (GRCm39) N474S probably benign Het
Zng1 A T 19: 24,920,039 (GRCm39) probably benign Het
Zpld1 T C 16: 55,068,697 (GRCm39) D138G probably damaging Het
Other mutations in Slc6a14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Slc6a14 APN X 21,600,363 (GRCm39) splice site probably benign
IGL00644:Slc6a14 APN X 21,605,895 (GRCm39) missense probably benign 0.24
R1819:Slc6a14 UTSW X 21,607,286 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACCTCTCCATGCCTGATACACTGTTT -3'
(R):5'- GGTACTTCTCATTGTGGCCTTGATCTT -3'

Sequencing Primer
(F):5'- TTTGCTCAATTCTTTTTATGGATCAG -3'
(R):5'- TGTGGCCTTGATCTTCATAAAATC -3'
Posted On 2014-02-18