Mutagenetix > Incidental Mutation

Incidental Mutation 'R4735:Slc6a18'

356515

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

041962-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4735 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73661752-73678023 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73666435 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 419 (C419S)

Ref Sequence

ENSEMBL: ENSMUSP00000152403 (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: C447S

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000022105
Gene: ENSMUSG00000021612
AA Change: C447S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109679
AA Change: C457S

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000105301
Gene: ENSMUSG00000021612
AA Change: C457S

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
AA Change: C419S

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105302
Gene: ENSMUSG00000021612
AA Change: C419S

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
AA Change: C419S

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000220703

Predicted Effect

probably benign
Transcript: ENSMUST00000222029
AA Change: C457S

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000223026

Predicted Effect

probably benign
Transcript: ENSMUST00000223074
AA Change: C447S

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

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: 133 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,216,123	I1410N	possibly damaging	Het
4932411N23Rik	T	A	X: 126,814,594	K296M	probably damaging	Het
4932438A13Rik	T	A	3: 37,004,967	N3267K	possibly damaging	Het
9230106D20Rik	T	C	10: 19,660,253		noncoding transcript	Het
Acsf3	T	A	8: 122,781,479	I238N	probably damaging	Het
Ahctf1	T	C	1: 179,753,399	N1746S	probably benign	Het
Akap3	T	C	6: 126,865,638	S407P	probably damaging	Het
Ankfy1	T	A	11: 72,730,611	M241K	probably benign	Het
Ano7	C	A	1: 93,400,494	T622K	probably benign	Het
App	T	C	16: 85,103,314	T83A	probably damaging	Het
Arhgef28	T	A	13: 97,899,729	E1674V	probably damaging	Het
Asb2	C	A	12: 103,325,058	V489L	probably benign	Het
Atrn	T	C	2: 131,020,990	V1330A	probably benign	Het
Brca1	A	G	11: 101,492,175		probably null	Het
Bspry	G	A	4: 62,486,525	R186Q	probably damaging	Het
Cdkn2d	C	G	9: 21,290,889	V21L	probably benign	Het
Celsr1	T	A	15: 85,906,029		probably null	Het
Ckap4	A	G	10: 84,533,520	V116A	possibly damaging	Het
Crb3	A	G	17: 57,065,207	T85A	probably damaging	Het
Cyld	T	C	8: 88,729,650	S443P	probably damaging	Het
Cyp27a1	T	G	1: 74,737,207	V434G	possibly damaging	Het
Cyp2b13	A	G	7: 26,088,295	T339A	probably benign	Het
Dars	A	T	1: 128,376,234	L252*	probably null	Het
Dcaf10	G	A	4: 45,372,769	R394Q	possibly damaging	Het
Ddx55	T	C	5: 124,566,476	F382S	probably damaging	Het
Dnah7b	G	A	1: 46,066,955	R33Q	unknown	Het
Dnm2	G	T	9: 21,474,587	S302I	probably damaging	Het
Dock4	T	A	12: 40,631,526	F75I	probably benign	Het
Dpp10	T	C	1: 123,398,627	N365S	probably benign	Het
Dpy19l3	G	T	7: 35,722,721	Q236K	probably benign	Het
Dsp	T	C	13: 38,196,040	S1655P	probably damaging	Het
Ebpl	A	T	14: 61,342,118	I117N	probably damaging	Het
Edc4	T	A	8: 105,887,186	V386E	probably damaging	Het
Eif2s2	T	A	2: 154,878,547		probably null	Het
Elob	A	T	17: 23,827,588		probably null	Het
Enox2	T	C	X: 49,069,677	I71V	probably damaging	Het
Fam160b1	A	G	19: 57,371,229	E67G	probably damaging	Het
Fez1	A	T	9: 36,860,845	K149*	probably null	Het
Fign	A	G	2: 63,980,438	Y163H	probably damaging	Het
Flnc	G	A	6: 29,455,813	G2048S	probably damaging	Het
Fras1	A	G	5: 96,588,163	D539G	probably benign	Het
Frmd4b	T	C	6: 97,459,259		probably benign	Het
Gan	C	T	8: 117,194,231	T402M	probably damaging	Het
Ganc	T	A	2: 120,436,623		silent	Het
Ggt6	C	A	11: 72,436,599	R103S	probably benign	Het
Gli2	T	C	1: 118,840,322	D725G	probably damaging	Het
Gm15446	T	A	5: 109,942,952	C357S	probably damaging	Het
Gm44501	A	G	17: 40,578,919	N108S	probably benign	Het
Gm6309	A	T	5: 146,168,244	D286E	probably damaging	Het
Gm6358	G	A	16: 89,140,960	G29E	unknown	Het
Gm8251	A	G	1: 44,061,701	I79T	probably benign	Het
Grik5	A	G	7: 25,058,288	I422T	probably damaging	Het
Grin2c	A	G	11: 115,249,596	I1232T	possibly damaging	Het
Gsg1	C	T	6: 135,237,407	R365H	possibly damaging	Het
H2-M2	A	G	17: 37,483,244	S30P	possibly damaging	Het
Hcfc2	A	G	10: 82,712,080	D302G	probably damaging	Het
Hk2	T	C	6: 82,744,974	D128G	probably benign	Het
Hmcn2	C	A	2: 31,383,775	Q1380K	probably benign	Het
Hsp90b1	G	T	10: 86,693,955	P617T	probably damaging	Het
Htr1d	A	G	4: 136,442,886	E142G	probably benign	Het
Hydin	G	A	8: 110,555,632		probably null	Het
Il1r1	T	A	1: 40,293,295	N81K	probably benign	Het
Inpp5b	T	C	4: 124,783,967	S407P	probably damaging	Het
Itpkb	T	C	1: 180,418,215	Y766H	probably damaging	Het
Lyrm2	T	A	4: 32,801,150	I65N	probably damaging	Het
Mink1	T	A	11: 70,609,260		probably null	Het
Mkrn3	C	T	7: 62,419,704	R113H	probably damaging	Het
Msx3	G	A	7: 140,047,885	A157V	probably damaging	Het
Nrxn2	T	G	19: 6,498,454	V59G	possibly damaging	Het
Nt5c3b	T	C	11: 100,440,906	T12A	probably benign	Het
Nwd2	G	A	5: 63,808,251	R1726Q	probably benign	Het
Nynrin	A	G	14: 55,870,168	T911A	probably benign	Het
Olfr1179	T	C	2: 88,402,923	T4A	probably benign	Het
Olfr266	T	A	3: 106,821,680	Y293F	probably damaging	Het
Olfr490	A	G	7: 108,286,313	M271T	probably benign	Het
Olfr609	C	T	7: 103,492,060	V273M	possibly damaging	Het
Olfr611	A	G	7: 103,517,823	I187T	possibly damaging	Het
Olfr659	C	T	7: 104,670,993	T97I	probably benign	Het
Olfr805	A	G	10: 129,722,923	I207T	probably benign	Het
Patl1	G	T	19: 11,922,505	M220I	probably benign	Het
Pcnx2	A	T	8: 125,828,041		probably null	Het
Pigr	A	T	1: 130,846,554	T424S	probably damaging	Het
Pik3c2b	T	A	1: 133,067,049	D250E	probably benign	Het
Ppa2	G	A	3: 133,370,425	E272K	probably benign	Het
Pramel7	G	A	2: 87,490,843	Q283*	probably null	Het
Prelid3b	A	G	2: 174,465,890	I81T	probably benign	Het
Prpf38a	T	C	4: 108,579,045	I24V	possibly damaging	Het
Ptger2	A	G	14: 45,001,838	D311G	possibly damaging	Het
Rab4b	A	T	7: 27,172,766		probably benign	Het
Rad17	A	C	13: 100,619,129	D581E	probably damaging	Het
Samd11	T	C	4: 156,248,773	T333A	probably benign	Het
Scaf4	C	T	16: 90,252,432	D256N	unknown	Het
Serinc2	A	G	4: 130,263,645	F82L	probably benign	Het
Serpina3g	T	A	12: 104,239,113	V37E	probably damaging	Het
Serpinb9c	T	A	13: 33,150,271	M263L	probably benign	Het
Shbg	A	G	11: 69,617,500	I67T	possibly damaging	Het
Slc25a48	G	A	13: 56,449,074		probably null	Het
Slc25a54	T	C	3: 109,098,607	W144R	probably damaging	Het
Slc34a1	A	T	13: 55,413,584	T621S	probably benign	Het
Smc5	A	T	19: 23,242,705	D389E	probably benign	Het
Smco3	T	A	6: 136,831,638	E79D	probably damaging	Het
Sox5	A	G	6: 143,960,835	F298S	probably damaging	Het
Sphkap	A	G	1: 83,279,117	S304P	probably benign	Het
Tcea2	C	T	2: 181,686,721	T211I	probably damaging	Het
Tcf4	G	T	18: 69,564,155	S34I	possibly damaging	Het
Tlr4	C	T	4: 66,841,198	R743C	probably damaging	Het
Tmem183a	T	C	1: 134,360,882	E67G	probably damaging	Het
Tpr	C	T	1: 150,442,196	R2152C	possibly damaging	Het
Trbv15	T	C	6: 41,141,424	I38T	probably benign	Het
Treh	G	A	9: 44,681,552	A125T	probably damaging	Het
Trio	A	T	15: 27,752,789		probably null	Het
Ttn	A	G	2: 76,951,949	V981A	probably damaging	Het
Uap1l1	A	G	2: 25,362,720	L436P	probably damaging	Het
Uba7	A	T	9: 107,976,916	I182F	possibly damaging	Het
Unc13c	A	T	9: 73,693,338	S1375T	probably benign	Het
Usp48	C	CT	4: 137,633,369		probably null	Het
Utp20	A	C	10: 88,816,918	V378G	possibly damaging	Het
Vmn1r69	A	T	7: 10,580,999		probably benign	Het
Vmn1r86	A	T	7: 13,102,294	H218Q	probably damaging	Het
Vmn2r121	T	A	X: 124,128,638	I562L	probably benign	Het
Vmn2r45	A	T	7: 8,483,473	I272N	probably damaging	Het
Wdr90	A	G	17: 25,859,450	V320A	probably benign	Het
Wfikkn1	A	G	17: 25,878,393	V319A	possibly damaging	Het
Whamm	A	G	7: 81,571,374	D18G	probably benign	Het
Wrn	T	A	8: 33,285,222	I605F	probably damaging	Het
Zdhhc18	A	G	4: 133,613,867	F232L	probably damaging	Het
Zfp41	T	C	15: 75,618,760	I187T	probably benign	Het
Zfp418	A	G	7: 7,182,562	Y508C	probably damaging	Het
Zfp560	T	G	9: 20,349,051	I172L	probably benign	Het
Zfp943	A	T	17: 21,992,410	D159V	probably benign	Het
Zfp955a	T	C	17: 33,241,722	I479V	probably benign	Het
Zfpm1	T	A	8: 122,335,480	V426D	probably benign	Het
Zic1	C	T	9: 91,364,505	M171I	possibly 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
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
R6747:Slc6a18	UTSW	13	73677991	start gained	probably benign
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
R9589:Slc6a18	UTSW	13	73668204	missense	not run
Z1177:Slc6a18	UTSW	13	73677860	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TCAGAGTGTCTCCAAGATCTAGAC -3'
(R):5'- AACCCCATTCCTAGCAGGTC -3'

Sequencing Primer
(F):5'- GTCTCCAAGATCTAGACAGCTGTG -3'
(R):5'- AGGTCCTCCCTGTTGCTTGG -3'

Posted On

2015-11-11