Mutagenetix > Incidental Mutations

Incidental Mutation 'R6747:Slc6a18'

530611

Institutional Source

Beutler Lab

Gene Symbol

Slc6a18

Ensembl Gene

ENSMUSG00000021612

Gene Name

solute carrier family 6 (neurotransmitter transporter), member 18

Synonyms

Xtrp2, D630001K16Rik, XT2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6747 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73661752-73678023 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

C to A at 73677991 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022048] [ENSMUST00000022105] [ENSMUST00000109679] [ENSMUST00000109680] [ENSMUST00000220650] [ENSMUST00000221026] [ENSMUST00000221987] [ENSMUST00000222029] [ENSMUST00000223026] [ENSMUST00000223074]

AlphaFold

O88576

Predicted Effect

probably benign
Transcript: ENSMUST00000022048

SMART Domains

Protein: ENSMUSP00000022048
Gene: ENSMUSG00000021565

Domain	Start	End	E-Value	Type
Pfam:SNF	32	608	2.3e-180	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000022105

SMART Domains

Protein: ENSMUSP00000022105
Gene: ENSMUSG00000021612

Domain	Start	End	E-Value	Type
Pfam:SNF	17	593	2.1e-182	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109679

SMART Domains

Protein: ENSMUSP00000105301
Gene: ENSMUSG00000021612

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:SNF	17	325	2.1e-126	PFAM
Pfam:SNF	392	555	9.1e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120322

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132085

Predicted Effect

probably benign
Transcript: ENSMUST00000220650

Predicted Effect

probably benign
Transcript: ENSMUST00000221026

Predicted Effect

probably benign
Transcript: ENSMUST00000221987

Predicted Effect

probably benign
Transcript: ENSMUST00000222029

Predicted Effect

probably benign
Transcript: ENSMUST00000223026

Predicted Effect

probably benign
Transcript: ENSMUST00000223074

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

97% (68/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	T	3: 122,126,313		probably null	Het
Acyp1	C	T	12: 85,278,905	V107I	probably null	Het
Aftph	T	C	11: 20,726,144		probably null	Het
Agtpbp1	A	T	13: 59,544,353		probably null	Het
Arhgap15	C	A	2: 44,116,677	P269T	probably damaging	Het
Arhgap30	T	C	1: 171,407,729	V557A	probably damaging	Het
Asb3	T	A	11: 31,081,493	M410K	probably benign	Het
B4galnt2	T	C	11: 95,868,634		probably null	Het
Birc3	A	G	9: 7,860,261		probably null	Het
Cav2	A	T	6: 17,286,951	N69Y	probably damaging	Het
Cc2d2b	G	A	19: 40,795,667	C826Y	probably benign	Het
Cenpf	T	A	1: 189,652,854	T2410S	probably benign	Het
Chchd1	A	G	14: 20,703,380	D24G	probably benign	Het
Cmip	G	A	8: 117,436,879	G450S	probably benign	Het
Col11a1	C	T	3: 114,212,450	Q534*	probably null	Het
Col3a1	G	T	1: 45,338,622		probably benign	Het
Cox4i1	T	C	8: 120,673,230	I31T	possibly damaging	Het
Cstf3	G	T	2: 104,646,767	V168F	probably damaging	Het
Dapk1	T	C	13: 60,725,340	I352T	probably benign	Het
Ddx52	T	C	11: 83,955,302	V456A	probably damaging	Het
Dmxl2	A	T	9: 54,416,088	H1337Q	probably damaging	Het
Dnah7a	T	C	1: 53,636,062	T369A	probably benign	Het
Dppa1	T	A	11: 46,625,595	I8F	unknown	Het
Ebf1	G	T	11: 44,883,814	V213F	probably damaging	Het
Foxb2	C	A	19: 16,872,833	E270*	probably null	Het
Gclc	A	T	9: 77,788,245	R450W	probably damaging	Het
Gm13128	T	C	4: 144,332,978	W420R	probably benign	Het
Grin2d	T	C	7: 45,862,268	E251G	probably damaging	Het
Hal	A	T	10: 93,500,677	N423Y	probably damaging	Het
Krtap4-8	T	A	11: 99,780,091	I185F	unknown	Het
Lrp3	T	A	7: 35,211,437	Q61L	probably benign	Het
Met	A	C	6: 17,571,467	Q1296H	probably damaging	Het
Mphosph9	T	A	5: 124,297,699	N557I	possibly damaging	Het
Mrpl46	C	A	7: 78,782,981	W16C	probably benign	Het
Myh13	G	A	11: 67,350,419	R874Q	probably damaging	Het
Nelfb	G	A	2: 25,203,381	T453I	probably benign	Het
Nos2	A	G	11: 78,952,954	D909G	probably damaging	Het
Nr5a2	T	C	1: 136,882,344	E431G	possibly damaging	Het
Nsmce2	A	G	15: 59,591,724	D149G	probably benign	Het
Olfr203	T	C	16: 59,303,641	F164L	probably benign	Het
Olfr690	C	T	7: 105,330,027	R55H	probably benign	Het
Pcbp4	C	A	9: 106,460,648		probably null	Het
Peg10	A	G	6: 4,757,137		probably benign	Het
Pms2	C	T	5: 143,925,419	P154L	probably benign	Het
Pou6f2	A	C	13: 18,129,187	L112R	probably benign	Het
Prdm6	A	T	18: 53,465,046		probably benign	Het
Prob1	G	A	18: 35,655,154	R12W	probably damaging	Het
Rif1	T	A	2: 52,078,263		probably null	Het
Rpl9-ps6	A	G	19: 32,466,143	S137P	probably benign	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,579,906		probably benign	Homo
Sec23ip	A	G	7: 128,752,849		silent	Het
Slc38a9	T	C	13: 112,690,180	C151R	probably benign	Het
Slc39a8	T	C	3: 135,849,180		probably null	Het
Snw1	T	C	12: 87,464,710	D57G	probably damaging	Het
Sox6	C	G	7: 115,541,731	R505P	probably damaging	Het
Speg	T	C	1: 75,410,395		probably null	Het
Spire2	C	T	8: 123,356,846	R190C	probably damaging	Het
Stard9	A	C	2: 120,698,383	H1707P	possibly damaging	Het
Tenm3	G	T	8: 48,343,243	T237K	probably damaging	Het
Themis2	T	A	4: 132,796,262	E31V	possibly damaging	Het
Trim56	T	G	5: 137,114,521	Q47P	probably damaging	Het
Trim58	T	C	11: 58,651,264	I350T	probably benign	Het
Ttll7	C	T	3: 146,944,056	P639S	probably benign	Het
Ubxn6	A	G	17: 56,070,650		probably null	Het
Vmn2r114	A	T	17: 23,309,876	F417L	probably benign	Het
Vmn2r29	T	A	7: 7,231,422	M822L	probably benign	Het
Vps9d1	T	C	8: 123,254,007	D27G	probably damaging	Het
Wdr3	C	T	3: 100,138,724	R931Q	probably damaging	Het
Whamm	G	A	7: 81,578,302		probably null	Het
Zcchc24	T	C	14: 25,757,033	H142R	probably damaging	Het
Zfp292	T	C	4: 34,806,894	K2050R	probably damaging	Het

Other mutations in Slc6a18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Slc6a18	APN	13	73671719	missense	possibly damaging	0.82
IGL01370:Slc6a18	APN	13	73667031	missense	probably damaging	1.00
IGL01959:Slc6a18	APN	13	73677865	missense	probably damaging	1.00
IGL02096:Slc6a18	APN	13	73672751	missense	probably benign	0.05
IGL02147:Slc6a18	APN	13	73668162	missense	probably damaging	0.97
IGL02167:Slc6a18	APN	13	73666472	critical splice acceptor site	probably null
IGL02465:Slc6a18	APN	13	73677785	missense	probably benign	0.11
IGL02548:Slc6a18	APN	13	73669995	missense	probably damaging	1.00
IGL02720:Slc6a18	APN	13	73669968	missense	probably benign	0.16
IGL03341:Slc6a18	APN	13	73677923	missense	probably benign	0.07
R0011:Slc6a18	UTSW	13	73665619	missense	possibly damaging	0.59
R0219:Slc6a18	UTSW	13	73674632	splice site	probably null
R0884:Slc6a18	UTSW	13	73667037	missense	probably damaging	1.00
R1019:Slc6a18	UTSW	13	73677879	missense	probably damaging	1.00
R1610:Slc6a18	UTSW	13	73668225	missense	probably benign	0.10
R1901:Slc6a18	UTSW	13	73670043	missense	probably benign	0.39
R1969:Slc6a18	UTSW	13	73664189	missense	possibly damaging	0.66
R2014:Slc6a18	UTSW	13	73675725	missense	probably benign	0.02
R2445:Slc6a18	UTSW	13	73666752	nonsense	probably null
R2504:Slc6a18	UTSW	13	73675806	missense	probably benign	0.01
R3125:Slc6a18	UTSW	13	73677802	missense	probably damaging	1.00
R4084:Slc6a18	UTSW	13	73667029	missense	probably benign	0.39
R4571:Slc6a18	UTSW	13	73666370	missense	possibly damaging	0.59
R4735:Slc6a18	UTSW	13	73666435	missense	probably benign	0.42
R5032:Slc6a18	UTSW	13	73666323	missense	probably damaging	1.00
R5859:Slc6a18	UTSW	13	73668159	missense	probably benign	0.01
R6258:Slc6a18	UTSW	13	73670045	nonsense	probably null
R6350:Slc6a18	UTSW	13	73677925	missense	possibly damaging	0.80
R6370:Slc6a18	UTSW	13	73668159	missense	probably benign	0.21
R6640:Slc6a18	UTSW	13	73664282	missense	possibly damaging	0.95
R7267:Slc6a18	UTSW	13	73671636	missense	probably damaging	1.00
R7702:Slc6a18	UTSW	13	73672796	missense	probably damaging	1.00
R8039:Slc6a18	UTSW	13	73665626	missense	probably benign	0.39
R8423:Slc6a18	UTSW	13	73665574	missense	probably benign	0.00
R8669:Slc6a18	UTSW	13	73664311	missense	probably benign	0.01
R8825:Slc6a18	UTSW	13	73665632	missense	probably null	0.01
R8993:Slc6a18	UTSW	13	73668271	missense	probably benign	0.01
R9023:Slc6a18	UTSW	13	73675770	missense	probably damaging	1.00
R9031:Slc6a18	UTSW	13	73671703	missense	possibly damaging	0.56
Z1177:Slc6a18	UTSW	13	73677860	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GAACCTCCATATGTTCCCCAGC -3'
(R):5'- ATTAAGTGTGGTGCTAGCAGGC -3'

Sequencing Primer
(F):5'- TATGTTCCCCAGCCCCACAG -3'
(R):5'- CTGTTGCTCACTGATCACATGAAAC -3'

Posted On

2018-08-01