Incidental Mutation 'R6370:Slc6a18'
ID 513495
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 044520-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6370 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 73809871-73826142 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 73816278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 367 (T367I)
Ref Sequence ENSEMBL: ENSMUSP00000152146 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022105] [ENSMUST00000109679] [ENSMUST00000109680] [ENSMUST00000220650] [ENSMUST00000222029] [ENSMUST00000223026] [ENSMUST00000223074]
AlphaFold O88576
Predicted Effect probably benign
Transcript: ENSMUST00000022105
AA Change: T367I

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000022105
Gene: ENSMUSG00000021612
AA Change: T367I

DomainStartEndE-ValueType
Pfam:SNF 17 593 2.1e-182 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109679
AA Change: T367I

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105301
Gene: ENSMUSG00000021612
AA Change: T367I

DomainStartEndE-ValueType
Pfam:SNF 17 511 6.8e-164 PFAM
low complexity region 513 526 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109680
AA Change: T367I

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105302
Gene: ENSMUSG00000021612
AA Change: T367I

DomainStartEndE-ValueType
Pfam:SNF 17 325 2.1e-126 PFAM
Pfam:SNF 392 555 9.1e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220650
AA Change: T367I

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000220703
Predicted Effect probably benign
Transcript: ENSMUST00000222029
AA Change: T367I

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000223026
AA Change: T367I

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000223074
AA Change: T367I

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 95% (54/57)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb6 A G 2: 30,717,024 (GRCm39) V67A probably damaging Het
Atic T A 1: 71,617,819 (GRCm39) F590I probably damaging Het
Atxn10 T C 15: 85,277,586 (GRCm39) F351S probably damaging Het
Bcl2l13 A G 6: 120,842,583 (GRCm39) N92S probably benign Het
Carm1 G T 9: 21,498,815 (GRCm39) A518S probably benign Het
Ccar1 C T 10: 62,600,308 (GRCm39) R541H probably damaging Het
Cfhr2 A T 1: 139,750,065 (GRCm39) L96Q probably damaging Het
Chrnb4 A G 9: 54,942,143 (GRCm39) L377S probably benign Het
Clcn3 A G 8: 61,376,058 (GRCm39) Y639H probably damaging Het
Cngb1 C T 8: 95,991,050 (GRCm39) M717I probably benign Het
Ctcf T C 8: 106,390,852 (GRCm39) M153T probably benign Het
Cyp2b19 T C 7: 26,462,783 (GRCm39) S222P probably benign Het
Dixdc1 A T 9: 50,593,523 (GRCm39) probably null Het
Entpd2 G A 2: 25,287,429 (GRCm39) G47S probably damaging Het
Erbb3 A G 10: 128,405,943 (GRCm39) M1158T possibly damaging Het
Faah T C 4: 115,860,253 (GRCm39) D333G probably damaging Het
Foxred2 T A 15: 77,827,506 (GRCm39) T618S probably benign Het
Gm2381 G A 7: 42,470,010 (GRCm39) A38V probably benign Het
Gpx5 A T 13: 21,472,872 (GRCm39) probably null Het
Gtdc1 A G 2: 44,646,334 (GRCm39) V98A probably damaging Het
Hal T C 10: 93,333,368 (GRCm39) I312T probably damaging Het
Krtap21-1 T C 16: 89,200,519 (GRCm39) Y41C unknown Het
Larp6 A G 9: 60,644,646 (GRCm39) E262G probably damaging Het
Lrrn1 A G 6: 107,546,185 (GRCm39) Y661C probably damaging Het
Lsm14a A G 7: 34,056,906 (GRCm39) V244A probably benign Het
Mfrp T C 9: 44,017,558 (GRCm39) C517R probably damaging Het
Mtarc1 T C 1: 184,527,689 (GRCm39) D257G probably damaging Het
Ncoa3 T C 2: 165,907,825 (GRCm39) S1145P probably benign Het
Nosip G T 7: 44,726,164 (GRCm39) probably null Het
Or4c100 T A 2: 88,329,712 (GRCm39) C94* probably null Het
Or51f2 A T 7: 102,526,377 (GRCm39) T17S probably benign Het
Or52n1 T C 7: 104,383,124 (GRCm39) K149R probably benign Het
Phykpl T C 11: 51,477,543 (GRCm39) S112P probably damaging Het
Pik3cb A T 9: 98,922,987 (GRCm39) I1015K probably damaging Het
Pomt2 A G 12: 87,155,973 (GRCm39) W818R probably damaging Het
Ptpn21 A T 12: 98,655,293 (GRCm39) M558K possibly damaging Het
Rnf213 T A 11: 119,367,904 (GRCm39) N4647K probably damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Homo
Rxrg T C 1: 167,462,006 (GRCm39) V227A probably damaging Het
Satb1 A T 17: 52,089,825 (GRCm39) S341T possibly damaging Het
Skint5 T G 4: 113,471,307 (GRCm39) Q983P unknown Het
Slc7a1 A G 5: 148,277,483 (GRCm39) L344P probably damaging Het
Slc7a6 T A 8: 106,922,069 (GRCm39) F399I probably benign Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Sugt1 T C 14: 79,847,774 (GRCm39) V208A probably benign Het
Syt3 A G 7: 44,045,107 (GRCm39) K480E probably damaging Het
Thop1 C T 10: 80,913,817 (GRCm39) T186I probably benign Het
Trim55 G A 3: 19,745,650 (GRCm39) E509K possibly damaging Het
Upf2 A G 2: 5,980,821 (GRCm39) N469S unknown Het
Usp24 G T 4: 106,237,718 (GRCm39) K1125N probably null Het
Usp5 A T 6: 124,797,391 (GRCm39) D494E probably benign Het
Vmn2r51 T C 7: 9,832,143 (GRCm39) K481R probably damaging Het
Vps16 C A 2: 130,285,304 (GRCm39) A787D probably damaging Het
Washc4 C T 10: 83,407,226 (GRCm39) H488Y possibly damaging Het
Wdfy4 C A 14: 32,790,807 (GRCm39) A2053S probably benign Het
Zfp74 A T 7: 29,631,835 (GRCm39) D136E probably damaging 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
R0884:Slc6a18 UTSW 13 73,815,156 (GRCm39) missense probably damaging 1.00
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
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'- GTCATCCTGTCTGCCAGATG -3'
(R):5'- TGCTATTTGCTCGAGAACTTTC -3'

Sequencing Primer
(F):5'- TCTGCATGCTCCCTAAGT -3'
(R):5'- CTCGAGAACTTTCCTGGAATACTGG -3'
Posted On 2018-04-27