Incidental Mutation 'R0884:Slc6a18'
ID 81086
Institutional Source Beutler Lab
Gene Symbol Slc6a18
Ensembl Gene ENSMUSG00000021612
Gene Name solute carrier family 6 (neurotransmitter transporter), member 18
Synonyms XT2, D630001K16Rik, Xtrp2
MMRRC Submission 039051-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0884 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 73809871-73826142 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 73815156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 384 (A384D)
Ref Sequence ENSEMBL: ENSMUSP00000152146 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022105] [ENSMUST00000109679] [ENSMUST00000109680] [ENSMUST00000220650] [ENSMUST00000222029] [ENSMUST00000223074] [ENSMUST00000223026]
AlphaFold O88576
Predicted Effect probably damaging
Transcript: ENSMUST00000022105
AA Change: A384D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022105
Gene: ENSMUSG00000021612
AA Change: A384D

DomainStartEndE-ValueType
Pfam:SNF 17 593 2.1e-182 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109679
AA Change: A384D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105301
Gene: ENSMUSG00000021612
AA Change: A384D

DomainStartEndE-ValueType
Pfam:SNF 17 511 6.8e-164 PFAM
low complexity region 513 526 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109680
SMART Domains Protein: ENSMUSP00000105302
Gene: ENSMUSG00000021612

DomainStartEndE-ValueType
Pfam:SNF 17 325 2.1e-126 PFAM
Pfam:SNF 392 555 9.1e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220650
Predicted Effect probably benign
Transcript: ENSMUST00000220703
Predicted Effect probably damaging
Transcript: ENSMUST00000222029
AA Change: A384D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000223074
AA Change: A384D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000223026
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The SLC6 family of proteins, which includes SLC6A18, act as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Apr 2010]
PHENOTYPE: Homozygous null mice are overtly normal but have increased blood pressure associated with impaired renal accumulation of glycine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,790,700 (GRCm39) I844N possibly damaging Het
Acbd3 CGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGA 1: 180,574,624 (GRCm39) probably benign Het
Adam6b A T 12: 113,454,615 (GRCm39) R477S probably damaging Het
Aqp7 T A 4: 41,034,929 (GRCm39) T175S possibly damaging Het
Bclaf1 A T 10: 20,197,822 (GRCm39) R22* probably null Het
Bend7 A T 2: 4,749,055 (GRCm39) K57N probably damaging Het
Bicc1 A C 10: 70,794,677 (GRCm39) V160G probably damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Cep72 A G 13: 74,203,000 (GRCm39) probably null Het
Cobl A G 11: 12,325,908 (GRCm39) I196T possibly damaging Het
Cux1 T G 5: 136,336,689 (GRCm39) D941A probably damaging Het
Cyp2a12 T C 7: 26,731,967 (GRCm39) I236T probably benign Het
Dennd2b A G 7: 109,156,552 (GRCm39) L66P probably damaging Het
Depdc5 T A 5: 33,075,322 (GRCm39) V500D possibly damaging Het
Dhx35 T C 2: 158,673,631 (GRCm39) I354T probably damaging Het
Dnase1l2 A G 17: 24,660,854 (GRCm39) V170A possibly damaging Het
Eif4g3 C A 4: 137,879,087 (GRCm39) N588K possibly damaging Het
Epsti1 A T 14: 78,168,715 (GRCm39) R117S probably damaging Het
Fam53a T C 5: 33,758,160 (GRCm39) E321G probably benign Het
Fat4 C A 3: 39,037,007 (GRCm39) T3553K possibly damaging Het
Fer1l4 T C 2: 155,861,233 (GRCm39) T1978A possibly damaging Het
Gabarapl2 A T 8: 112,669,137 (GRCm39) I32F probably damaging Het
Gje1 G T 10: 14,592,484 (GRCm39) S99R possibly damaging Het
Gosr1 A G 11: 76,620,972 (GRCm39) I239T probably benign Het
Gpnmb T C 6: 49,024,847 (GRCm39) V293A possibly damaging Het
Hyi T A 4: 118,217,414 (GRCm39) I62N probably damaging Het
Il4ra A G 7: 125,173,835 (GRCm39) I267V probably damaging Het
Kcnd2 A T 6: 21,216,540 (GRCm39) Q81H probably benign Het
Ksr1 A T 11: 78,912,329 (GRCm39) H675Q possibly damaging Het
Lpcat4 A G 2: 112,073,077 (GRCm39) N208S probably damaging Het
Muc17 T A 5: 137,171,146 (GRCm39) T162S possibly damaging Het
Mup3 T A 4: 62,005,411 (GRCm39) I20F possibly damaging Het
Nebl A C 2: 17,415,929 (GRCm39) S327A probably benign Het
Nfatc4 A C 14: 56,064,101 (GRCm39) D126A probably damaging Het
Nmt2 A T 2: 3,315,822 (GRCm39) R271* probably null Het
Nol7 G A 13: 43,554,091 (GRCm39) V133I probably benign Het
Or1e1c A T 11: 73,265,715 (GRCm39) I47F probably benign Het
Or51ag1 C T 7: 103,156,069 (GRCm39) W28* probably null Het
Pde4d A T 13: 110,087,474 (GRCm39) I670L probably damaging Het
Phlpp1 T A 1: 106,317,395 (GRCm39) probably null Het
Pigz A G 16: 31,760,794 (GRCm39) probably null Het
Pramel21 A G 4: 143,341,754 (GRCm39) D61G probably benign Het
Prrg4 A T 2: 104,669,707 (GRCm39) Y137N probably damaging Het
Rbm28 A T 6: 29,155,153 (GRCm39) S217T possibly damaging Het
Ryr2 T C 13: 11,569,415 (GRCm39) D4963G probably damaging Het
Slc35b2 T A 17: 45,877,751 (GRCm39) F293I probably damaging Het
Slc35f1 A T 10: 52,965,443 (GRCm39) Y286F probably damaging Het
Syt9 A G 7: 107,035,768 (GRCm39) I262V probably damaging Het
Tln2 C A 9: 67,278,015 (GRCm39) R333L probably damaging Het
Tnrc6b ACAGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAG 15: 80,786,756 (GRCm39) probably benign Het
Ttn G A 2: 76,581,410 (GRCm39) T14834I possibly damaging Het
Uggt1 T C 1: 36,214,159 (GRCm39) S177G probably benign Het
Zfp454 A G 11: 50,764,764 (GRCm39) S223P probably benign Het
Zmat4 A G 8: 24,505,143 (GRCm39) T128A probably benign Het
Other mutations in Slc6a18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00498:Slc6a18 APN 13 73,819,838 (GRCm39) missense possibly damaging 0.82
IGL01370:Slc6a18 APN 13 73,815,150 (GRCm39) missense probably damaging 1.00
IGL01959:Slc6a18 APN 13 73,825,984 (GRCm39) missense probably damaging 1.00
IGL02096:Slc6a18 APN 13 73,820,870 (GRCm39) missense probably benign 0.05
IGL02147:Slc6a18 APN 13 73,816,281 (GRCm39) missense probably damaging 0.97
IGL02167:Slc6a18 APN 13 73,814,591 (GRCm39) critical splice acceptor site probably null
IGL02465:Slc6a18 APN 13 73,825,904 (GRCm39) missense probably benign 0.11
IGL02548:Slc6a18 APN 13 73,818,114 (GRCm39) missense probably damaging 1.00
IGL02720:Slc6a18 APN 13 73,818,087 (GRCm39) missense probably benign 0.16
IGL03341:Slc6a18 APN 13 73,826,042 (GRCm39) missense probably benign 0.07
R0011:Slc6a18 UTSW 13 73,813,738 (GRCm39) missense possibly damaging 0.59
R0219:Slc6a18 UTSW 13 73,822,751 (GRCm39) splice site probably null
R1019:Slc6a18 UTSW 13 73,825,998 (GRCm39) missense probably damaging 1.00
R1610:Slc6a18 UTSW 13 73,816,344 (GRCm39) missense probably benign 0.10
R1901:Slc6a18 UTSW 13 73,818,162 (GRCm39) missense probably benign 0.39
R1969:Slc6a18 UTSW 13 73,812,308 (GRCm39) missense possibly damaging 0.66
R2014:Slc6a18 UTSW 13 73,823,844 (GRCm39) missense probably benign 0.02
R2445:Slc6a18 UTSW 13 73,814,871 (GRCm39) nonsense probably null
R2504:Slc6a18 UTSW 13 73,823,925 (GRCm39) missense probably benign 0.01
R3125:Slc6a18 UTSW 13 73,825,921 (GRCm39) missense probably damaging 1.00
R4084:Slc6a18 UTSW 13 73,815,148 (GRCm39) missense probably benign 0.39
R4571:Slc6a18 UTSW 13 73,814,489 (GRCm39) missense possibly damaging 0.59
R4735:Slc6a18 UTSW 13 73,814,554 (GRCm39) missense probably benign 0.42
R5032:Slc6a18 UTSW 13 73,814,442 (GRCm39) missense probably damaging 1.00
R5859:Slc6a18 UTSW 13 73,816,278 (GRCm39) missense probably benign 0.01
R6258:Slc6a18 UTSW 13 73,818,164 (GRCm39) nonsense probably null
R6350:Slc6a18 UTSW 13 73,826,044 (GRCm39) missense possibly damaging 0.80
R6370:Slc6a18 UTSW 13 73,816,278 (GRCm39) missense probably benign 0.21
R6640:Slc6a18 UTSW 13 73,812,401 (GRCm39) missense possibly damaging 0.95
R6747:Slc6a18 UTSW 13 73,826,110 (GRCm39) start gained probably benign
R7267:Slc6a18 UTSW 13 73,819,755 (GRCm39) missense probably damaging 1.00
R7702:Slc6a18 UTSW 13 73,820,915 (GRCm39) missense probably damaging 1.00
R8039:Slc6a18 UTSW 13 73,813,745 (GRCm39) missense probably benign 0.39
R8423:Slc6a18 UTSW 13 73,813,693 (GRCm39) missense probably benign 0.00
R8669:Slc6a18 UTSW 13 73,812,430 (GRCm39) missense probably benign 0.01
R8825:Slc6a18 UTSW 13 73,813,751 (GRCm39) missense probably null 0.01
R8993:Slc6a18 UTSW 13 73,816,390 (GRCm39) missense probably benign 0.01
R9023:Slc6a18 UTSW 13 73,823,889 (GRCm39) missense probably damaging 1.00
R9031:Slc6a18 UTSW 13 73,819,822 (GRCm39) missense possibly damaging 0.56
R9589:Slc6a18 UTSW 13 73,816,323 (GRCm39) missense possibly damaging 0.66
Z1177:Slc6a18 UTSW 13 73,825,979 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- TGGGTAAGATCCCCATGTCCAATAGTG -3'
(R):5'- CACAGTGCAGTGTGTACCTGTGTC -3'

Sequencing Primer
(F):5'- AGTGGTGTAATGACACCCTC -3'
(R):5'- CCATTTCAGTAGAGCATTCACAG -3'
Posted On 2013-11-07