Mutagenetix > Incidental Mutation

Incidental Mutation 'R8039:Slc6a18'

618435

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

067476-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8039 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73661752-73678023 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73665626 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 523 (S523G)

Ref Sequence

ENSEMBL: ENSMUSP00000152525 (fasta)

Gene Model

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

AlphaFold

O88576

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

possibly damaging
Transcript: ENSMUST00000109680
AA Change: S485G

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105302
Gene: ENSMUSG00000021612
AA Change: S485G

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000222029
AA Change: S523G

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000223026

Predicted Effect

probably benign
Transcript: ENSMUST00000223074
AA Change: S513G

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,328,725 (GRCm38)	H225R	probably damaging	Het
Adgrb2	T	A	4: 130,022,268 (GRCm38)	L1451Q	probably damaging	Het
Afdn	T	C	17: 13,899,141 (GRCm38)	L1713P	probably damaging	Het
Agr2	A	T	12: 35,995,559 (GRCm38)	I15F	probably benign	Het
Agrn	T	C	4: 156,169,011 (GRCm38)	T1808A	probably benign	Het
Akap6	A	G	12: 53,141,676 (GRCm38)	I1958V	probably benign	Het
Ankrd60	C	A	2: 173,572,491 (GRCm38)		probably null	Het
Anpep	A	G	7: 79,839,400 (GRCm38)		probably null	Het
Apoa4	A	T	9: 46,242,293 (GRCm38)	D64V	possibly damaging	Het
Arhgef26	C	A	3: 62,339,930 (GRCm38)	T145N	probably benign	Het
Art1	A	T	7: 102,106,845 (GRCm38)	Q81L	probably benign	Het
Astl	A	T	2: 127,343,983 (GRCm38)	S71C	probably damaging	Het
Atp2a1	A	G	7: 126,448,805 (GRCm38)	I611T	probably damaging	Het
Bltp1	T	A	3: 36,943,214 (GRCm38)	V1140E	probably benign	Het
Cacna2d2	T	A	9: 107,527,433 (GRCm38)	V1139D	possibly damaging	Het
Castor1	G	T	11: 4,221,639 (GRCm38)	A288S	probably damaging	Het
Chst10	T	A	1: 38,866,031 (GRCm38)	K198*	probably null	Het
Ckmt2	G	A	13: 91,863,312 (GRCm38)	H60Y	possibly damaging	Het
Coq7	G	C	7: 118,533,246 (GRCm38)	S2R	possibly damaging	Het
Cspp1	T	A	1: 10,113,013 (GRCm38)	D814E	probably benign	Het
Cyp2c54	CCTCTTTCATAGCTCT	CCTCT	19: 40,073,732 (GRCm38)		probably null	Het
Daam2	C	A	17: 49,464,538 (GRCm38)	G860V	probably damaging	Het
Ecm2	A	T	13: 49,514,850 (GRCm38)	I10F	probably benign	Het
Epb41l1	A	T	2: 156,506,412 (GRCm38)	D312V	probably damaging	Het
Epsti1	G	A	14: 77,931,301 (GRCm38)	R126H	probably damaging	Het
Erc1	A	T	6: 119,773,665 (GRCm38)	Y367*	probably null	Het
Erh	T	A	12: 80,637,578 (GRCm38)	R42W	probably damaging	Het
Fam124a	C	T	14: 62,605,876 (GRCm38)	Q278*	probably null	Het
Fbxo3	T	A	2: 104,054,941 (GRCm38)	L385Q	probably damaging	Het
Fbxo31	T	A	8: 121,559,055 (GRCm38)	T219S	probably damaging	Het
Fstl5	T	G	3: 76,648,418 (GRCm38)	V534G	possibly damaging	Het
Gbp2b	A	T	3: 142,618,164 (GRCm38)	I577F	probably benign	Het
Gbp8	A	T	5: 105,050,917 (GRCm38)	L44*	probably null	Het
Gck	C	T	11: 5,910,301 (GRCm38)	A114T	probably benign	Het
Gtf2i	A	G	5: 134,255,834 (GRCm38)	V537A	possibly damaging	Het
Iqcm	C	A	8: 75,763,105 (GRCm38)	H400Q	probably damaging	Het
Iqcn	T	C	8: 70,710,906 (GRCm38)	V916A	probably benign	Het
Itpr1	T	C	6: 108,386,628 (GRCm38)	L737P	probably damaging	Het
Jakmip1	A	G	5: 37,100,772 (GRCm38)	E254G	probably damaging	Het
Kif15	A	T	9: 123,007,425 (GRCm38)	R1095W	possibly damaging	Het
Klhdc8a	G	A	1: 132,303,108 (GRCm38)	R237Q	probably benign	Het
Klhl38	T	C	15: 58,322,862 (GRCm38)	E157G	probably benign	Het
Klrk1	T	A	6: 129,612,823 (GRCm38)	N221I	probably benign	Het
Lhx8	A	T	3: 154,306,939 (GRCm38)	H345Q	probably damaging	Het
Lims1	T	A	10: 58,409,672 (GRCm38)	N174K	probably benign	Het
Madd	T	A	2: 91,167,061 (GRCm38)	Q754L	probably benign	Het
Mau2	T	C	8: 70,019,790 (GRCm38)	D581G	probably damaging	Het
Miga1	A	T	3: 152,276,756 (GRCm38)	I561N	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mob3c	T	C	4: 115,831,687 (GRCm38)	V139A	probably benign	Het
Nadk	G	T	4: 155,577,067 (GRCm38)	D17Y	probably benign	Het
Nalf1	T	C	8: 9,207,892 (GRCm38)	T419A	probably benign	Het
Ncapd2	C	T	6: 125,181,026 (GRCm38)	V380I	probably damaging	Het
Nes	G	A	3: 87,977,008 (GRCm38)	R858K	probably benign	Het
Nphp3	T	C	9: 104,031,963 (GRCm38)	S791P	probably benign	Het
Nup210	T	C	6: 91,070,233 (GRCm38)	T496A	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266 (GRCm38)		probably benign	Het
Or4c100	C	T	2: 88,525,871 (GRCm38)	T96I	probably benign	Het
Or6y1	T	A	1: 174,449,596 (GRCm38)	S324R	unknown	Het
Or8b50	T	A	9: 38,607,389 (GRCm38)	M308K	probably benign	Het
Ovgp1	T	A	3: 105,976,023 (GRCm38)	S105T	probably benign	Het
Pbld2	T	A	10: 63,047,992 (GRCm38)	C79S	probably damaging	Het
Pik3cd	T	A	4: 149,659,866 (GRCm38)	M143L	possibly damaging	Het
Plat	G	T	8: 22,772,232 (GRCm38)	G91W	probably damaging	Het
Poln	A	G	5: 34,122,672 (GRCm38)	V282A	probably benign	Het
Ppp1r11	T	C	17: 36,951,446 (GRCm38)	T21A	probably damaging	Het
Prpf8	T	A	11: 75,502,542 (GRCm38)	I1664N	possibly damaging	Het
Prr29	C	T	11: 106,376,912 (GRCm38)	A161V	probably benign	Het
Rasa3	T	C	8: 13,588,931 (GRCm38)	D292G	probably damaging	Het
Rnf25	T	C	1: 74,593,964 (GRCm38)	T411A	probably damaging	Het
Rraga	C	T	4: 86,575,980 (GRCm38)	T21I	probably damaging	Het
Setdb2	T	A	14: 59,402,375 (GRCm38)	Y673F	probably damaging	Het
Sf3a1	C	T	11: 4,167,787 (GRCm38)	T183I	probably damaging	Het
Shank3	A	T	15: 89,505,439 (GRCm38)	H413L	probably damaging	Het
Slc30a5	A	G	13: 100,813,681 (GRCm38)		probably null	Het
Spaca1	C	T	4: 34,044,207 (GRCm38)	V96I	probably damaging	Het
Sycp2	C	T	2: 178,374,585 (GRCm38)	A695T	probably benign	Het
Tnrc18	C	A	5: 142,732,052 (GRCm38)	G2216C	unknown	Het
Trak2	T	C	1: 58,946,288 (GRCm38)	N17S	probably benign	Het
Ttn	T	A	2: 76,878,432 (GRCm38)	N8792I	unknown	Het
Ttyh1	T	C	7: 4,122,541 (GRCm38)	V64A	probably benign	Het
Usb1	T	A	8: 95,333,413 (GRCm38)	S50R	probably damaging	Het
Ush2a	T	A	1: 188,957,373 (GRCm38)	I5044N	probably damaging	Het
Vmn1r84	A	T	7: 12,362,008 (GRCm38)	F253I	possibly damaging	Het
Vmn2r99	T	C	17: 19,380,040 (GRCm38)	I442T	probably benign	Het
Vsig1	C	T	X: 140,933,126 (GRCm38)	H232Y	probably benign	Het

Other mutations in Slc6a18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Slc6a18	APN	13	73,671,719 (GRCm38)	missense	possibly damaging	0.82
IGL01370:Slc6a18	APN	13	73,667,031 (GRCm38)	missense	probably damaging	1.00
IGL01959:Slc6a18	APN	13	73,677,865 (GRCm38)	missense	probably damaging	1.00
IGL02096:Slc6a18	APN	13	73,672,751 (GRCm38)	missense	probably benign	0.05
IGL02147:Slc6a18	APN	13	73,668,162 (GRCm38)	missense	probably damaging	0.97
IGL02167:Slc6a18	APN	13	73,666,472 (GRCm38)	critical splice acceptor site	probably null
IGL02465:Slc6a18	APN	13	73,677,785 (GRCm38)	missense	probably benign	0.11
IGL02548:Slc6a18	APN	13	73,669,995 (GRCm38)	missense	probably damaging	1.00
IGL02720:Slc6a18	APN	13	73,669,968 (GRCm38)	missense	probably benign	0.16
IGL03341:Slc6a18	APN	13	73,677,923 (GRCm38)	missense	probably benign	0.07
R0011:Slc6a18	UTSW	13	73,665,619 (GRCm38)	missense	possibly damaging	0.59
R0219:Slc6a18	UTSW	13	73,674,632 (GRCm38)	splice site	probably null
R0884:Slc6a18	UTSW	13	73,667,037 (GRCm38)	missense	probably damaging	1.00
R1019:Slc6a18	UTSW	13	73,677,879 (GRCm38)	missense	probably damaging	1.00
R1610:Slc6a18	UTSW	13	73,668,225 (GRCm38)	missense	probably benign	0.10
R1901:Slc6a18	UTSW	13	73,670,043 (GRCm38)	missense	probably benign	0.39
R1969:Slc6a18	UTSW	13	73,664,189 (GRCm38)	missense	possibly damaging	0.66
R2014:Slc6a18	UTSW	13	73,675,725 (GRCm38)	missense	probably benign	0.02
R2445:Slc6a18	UTSW	13	73,666,752 (GRCm38)	nonsense	probably null
R2504:Slc6a18	UTSW	13	73,675,806 (GRCm38)	missense	probably benign	0.01
R3125:Slc6a18	UTSW	13	73,677,802 (GRCm38)	missense	probably damaging	1.00
R4084:Slc6a18	UTSW	13	73,667,029 (GRCm38)	missense	probably benign	0.39
R4571:Slc6a18	UTSW	13	73,666,370 (GRCm38)	missense	possibly damaging	0.59
R4735:Slc6a18	UTSW	13	73,666,435 (GRCm38)	missense	probably benign	0.42
R5032:Slc6a18	UTSW	13	73,666,323 (GRCm38)	missense	probably damaging	1.00
R5859:Slc6a18	UTSW	13	73,668,159 (GRCm38)	missense	probably benign	0.01
R6258:Slc6a18	UTSW	13	73,670,045 (GRCm38)	nonsense	probably null
R6350:Slc6a18	UTSW	13	73,677,925 (GRCm38)	missense	possibly damaging	0.80
R6370:Slc6a18	UTSW	13	73,668,159 (GRCm38)	missense	probably benign	0.21
R6640:Slc6a18	UTSW	13	73,664,282 (GRCm38)	missense	possibly damaging	0.95
R6747:Slc6a18	UTSW	13	73,677,991 (GRCm38)	start gained	probably benign
R7267:Slc6a18	UTSW	13	73,671,636 (GRCm38)	missense	probably damaging	1.00
R7702:Slc6a18	UTSW	13	73,672,796 (GRCm38)	missense	probably damaging	1.00
R8423:Slc6a18	UTSW	13	73,665,574 (GRCm38)	missense	probably benign	0.00
R8669:Slc6a18	UTSW	13	73,664,311 (GRCm38)	missense	probably benign	0.01
R8825:Slc6a18	UTSW	13	73,665,632 (GRCm38)	missense	probably null	0.01
R8993:Slc6a18	UTSW	13	73,668,271 (GRCm38)	missense	probably benign	0.01
R9023:Slc6a18	UTSW	13	73,675,770 (GRCm38)	missense	probably damaging	1.00
R9031:Slc6a18	UTSW	13	73,671,703 (GRCm38)	missense	possibly damaging	0.56
R9589:Slc6a18	UTSW	13	73,668,204 (GRCm38)	missense	possibly damaging	0.66
Z1177:Slc6a18	UTSW	13	73,677,860 (GRCm38)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TGCCATGTGTAGGTCATCTAAGC -3'
(R):5'- TTGGAGACACTCTGAGATAGTACC -3'

Sequencing Primer
(F):5'- AGGTCATCTAAGCTGTGGGTAGTAC -3'
(R):5'- AATGCCTTACAGCTGGATCTCATGG -3'

Posted On

2020-01-23