Incidental Mutation 'IGL02096:Slc6a18'
ID 281133
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc6a18
Ensembl Gene ENSMUSG00000021612
Gene Name solute carrier family 6 (neurotransmitter transporter), member 18
Synonyms XT2, D630001K16Rik, Xtrp2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02096
Quality Score
Status
Chromosome 13
Chromosomal Location 73809871-73826142 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73820870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 238 (Y238F)
Ref Sequence ENSEMBL: ENSMUSP00000152146 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022105] [ENSMUST00000109679] [ENSMUST00000109680] [ENSMUST00000220650] [ENSMUST00000221026] [ENSMUST00000221987] [ENSMUST00000223074] [ENSMUST00000222029] [ENSMUST00000223026]
AlphaFold O88576
Predicted Effect probably benign
Transcript: ENSMUST00000022105
AA Change: Y238F

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000022105
Gene: ENSMUSG00000021612
AA Change: Y238F

DomainStartEndE-ValueType
Pfam:SNF 17 593 2.1e-182 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109679
AA Change: Y238F

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000105301
Gene: ENSMUSG00000021612
AA Change: Y238F

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: Y238F

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000105302
Gene: ENSMUSG00000021612
AA Change: Y238F

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: Y238F

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000221026
Predicted Effect probably benign
Transcript: ENSMUST00000221987
Predicted Effect probably benign
Transcript: ENSMUST00000223074
AA Change: Y238F

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000222029
AA Change: Y238F

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000223026
AA Change: Y238F

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 109,993,359 (GRCm39) L1584P probably damaging Het
Abca9 G T 11: 110,056,806 (GRCm39) H5N probably benign Het
Acox1 A T 11: 116,069,024 (GRCm39) I371N probably damaging Het
Aopep C A 13: 63,208,903 (GRCm39) A340E probably benign Het
Bmp5 A G 9: 75,805,833 (GRCm39) N445S probably damaging Het
Cacna1b G T 2: 24,568,927 (GRCm39) A999E probably benign Het
Cdc27 A T 11: 104,419,394 (GRCm39) probably benign Het
Dmxl2 T C 9: 54,308,349 (GRCm39) E2134G possibly damaging Het
Dnttip2 A G 3: 122,078,062 (GRCm39) N698S possibly damaging Het
Duox1 A T 2: 122,174,655 (GRCm39) K1271M probably damaging Het
Dync1h1 T C 12: 110,599,254 (GRCm39) Y1870H possibly damaging Het
Edem3 A G 1: 151,680,470 (GRCm39) T532A probably benign Het
Epx A T 11: 87,760,294 (GRCm39) L440Q probably damaging Het
F11 A G 8: 45,699,791 (GRCm39) F432L probably benign Het
Fam185a C A 5: 21,630,341 (GRCm39) P59Q probably damaging Het
Fsip2 A G 2: 82,822,204 (GRCm39) D5979G possibly damaging Het
Furin A G 7: 80,043,207 (GRCm39) S335P probably damaging Het
Gtf3c1 T A 7: 125,258,284 (GRCm39) Q1262L probably damaging Het
Hmmr A T 11: 40,598,256 (GRCm39) V652E probably benign Het
Iapp A T 6: 142,249,199 (GRCm39) N84I probably benign Het
Katnip G A 7: 125,413,993 (GRCm39) C379Y probably benign Het
Mmp17 C T 5: 129,675,752 (GRCm39) Q304* probably null Het
Mpl T C 4: 118,314,333 (GRCm39) T55A possibly damaging Het
Mst1r G A 9: 107,794,478 (GRCm39) R1219H probably damaging Het
Muc6 T A 7: 141,226,117 (GRCm39) probably benign Het
Nalcn C T 14: 123,831,915 (GRCm39) V120I probably benign Het
Nt5dc1 A T 10: 34,275,806 (GRCm39) C134* probably null Het
Obscn A C 11: 58,971,530 (GRCm39) N2228K probably damaging Het
Or2n1c T A 17: 38,520,074 (GRCm39) *313R probably null Het
Osbpl10 T C 9: 115,046,062 (GRCm39) M566T possibly damaging Het
Pabpc1l G A 2: 163,886,267 (GRCm39) V466I probably benign Het
Pdcd11 T G 19: 47,094,860 (GRCm39) V548G probably benign Het
Prss27 G T 17: 24,263,951 (GRCm39) K212N possibly damaging Het
Ranbp2 T A 10: 58,297,789 (GRCm39) S399T probably damaging Het
Rgs19 A G 2: 181,331,076 (GRCm39) S159P probably damaging Het
Sh2b1 A G 7: 126,068,465 (GRCm39) S449P probably damaging Het
Stx11 T C 10: 12,817,224 (GRCm39) I167V probably benign Het
Sucnr1 A G 3: 59,994,371 (GRCm39) M300V possibly damaging Het
Synj2 A G 17: 6,040,628 (GRCm39) T235A probably damaging Het
Ubxn2b T A 4: 6,214,749 (GRCm39) I261N probably damaging Het
Vmn2r43 G A 7: 8,260,512 (GRCm39) probably benign Het
Vmn2r45 A G 7: 8,484,443 (GRCm39) M454T probably damaging Het
Vsig2 T A 9: 37,451,251 (GRCm39) S51T probably damaging Het
Wdr41 T C 13: 95,153,964 (GRCm39) probably benign Het
Wdr6 A C 9: 108,453,752 (GRCm39) L44V probably damaging Het
Zfp1001 T C 2: 150,165,634 (GRCm39) Y5H probably damaging Het
Zfp592 T C 7: 80,674,796 (GRCm39) Y587H probably damaging Het
Zfp735 A T 11: 73,602,254 (GRCm39) K399N 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
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
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
Posted On 2015-04-16