Mutagenetix > Incidental Mutation

Incidental Mutation 'R0383:Slc6a15'

31098

Institutional Source

Beutler Lab

Gene Symbol

Slc6a15

Ensembl Gene

ENSMUSG00000019894

Gene Name

solute carrier family 6 (neurotransmitter transporter), member 15

Synonyms

v7-3

MMRRC Submission

038589-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0383 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103367783-103419377 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103418053 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 617 (W617R)

Ref Sequence

ENSEMBL: ENSMUSP00000136676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074204] [ENSMUST00000179636]

AlphaFold

Q8BG16

Predicted Effect

probably damaging
Transcript: ENSMUST00000074204
AA Change: W617R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073829
Gene: ENSMUSG00000019894
AA Change: W617R

Domain	Start	End	E-Value	Type
low complexity region	29	38	N/A	INTRINSIC
Pfam:SNF	61	644	2.2e-229	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000179636
AA Change: W617R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136676
Gene: ENSMUSG00000019894
AA Change: W617R

Domain	Start	End	E-Value	Type
low complexity region	29	38	N/A	INTRINSIC
Pfam:SNF	61	644	2.2e-229	PFAM

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.2%
20x: 88.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the solute carrier family 6 protein family which transports neutral amino acids. The encoded protein is thought to play a role in neuronal amino acid transport (PMID: 16185194) and may be associated with major depression (PMID: 21521612). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased synaptosome transport activities but exhibit no behavioral abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	G	7: 131,239,539	M537V	probably benign	Het
5730455P16Rik	G	T	11: 80,363,941	Y351*	probably null	Het
A530099J19Rik	A	G	13: 19,729,147		noncoding transcript	Het
Aadac	G	T	3: 60,035,947	R91L	possibly damaging	Het
Adgrg1	T	A	8: 95,011,742	F621Y	probably damaging	Het
Ankmy1	G	T	1: 92,885,053	D511E	probably benign	Het
Anks4b	A	T	7: 120,182,874	D376V	probably damaging	Het
Aox1	G	T	1: 58,061,241	C399F	probably benign	Het
Arfgef1	C	T	1: 10,198,842		probably null	Het
Arhgef4	G	A	1: 34,810,533	V546M	probably damaging	Het
Cab39	T	A	1: 85,837,299	V98E	probably damaging	Het
Cacna1b	T	C	2: 24,761,844	N108D	probably damaging	Het
Car15	C	A	16: 17,836,753	E134*	probably null	Het
Ccdc80	T	G	16: 45,095,369	Y163D	probably damaging	Het
Col22a1	C	T	15: 71,869,004	G513D	unknown	Het
Col8a1	T	C	16: 57,632,442	D66G	probably damaging	Het
Crot	C	A	5: 8,968,734	S544I	probably damaging	Het
Cubn	G	T	2: 13,430,959	P1062Q	probably damaging	Het
Dcc	A	T	18: 71,420,263	V774E	probably damaging	Het
Dlgap5	T	A	14: 47,410,361	M240L	probably benign	Het
Dlx4	A	G	11: 95,145,435	V16A	probably benign	Het
Dnah17	G	T	11: 118,067,547	H2703Q	probably benign	Het
Duox2	A	G	2: 122,291,810		probably null	Het
Fn1	C	T	1: 71,597,685	V168I	probably damaging	Het
Fpr-rs4	A	T	17: 18,022,097	D122V	probably damaging	Het
Gas2l2	A	T	11: 83,423,097	I463N	probably benign	Het
Ggta1	G	T	2: 35,402,404	P297Q	probably damaging	Het
Gpatch3	C	A	4: 133,578,146	R231S	probably damaging	Het
Gpc1	T	C	1: 92,854,983	Y151H	probably damaging	Het
Gtf2e2	T	C	8: 33,755,945	W119R	probably damaging	Het
H2-M10.2	T	C	17: 36,284,361	I304V	probably benign	Het
Helq	T	C	5: 100,779,165	K685R	probably benign	Het
Hps5	C	T	7: 46,769,288		probably null	Het
Iars	T	C	13: 49,732,342	C1186R	probably damaging	Het
Ift43	T	C	12: 86,162,021	V158A	possibly damaging	Het
Iqca	A	T	1: 90,142,707	I141N	probably damaging	Het
Kat6b	A	G	14: 21,669,081	N1276S	probably benign	Het
Kif19a	A	T	11: 114,765,514	M1L	possibly damaging	Het
Kif1b	T	G	4: 149,202,512	H1241P	probably damaging	Het
Kif26a	T	C	12: 112,178,076	V1588A	possibly damaging	Het
Klb	T	A	5: 65,372,499		probably null	Het
Krtap26-1	A	T	16: 88,647,243	Y163*	probably null	Het
Lefty1	G	T	1: 180,937,634	E256*	probably null	Het
Lox	T	C	18: 52,529,199	N44S	possibly damaging	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Mctp1	A	G	13: 76,801,544	Y565C	probably damaging	Het
Megf6	C	T	4: 154,265,326	A961V	probably benign	Het
Mindy4	A	G	6: 55,276,634	K496R	probably benign	Het
Nalcn	A	T	14: 123,507,559	H352Q	probably benign	Het
Ncoa5	T	C	2: 165,009,390	I188V	possibly damaging	Het
Notum	G	T	11: 120,654,456	H426N	probably benign	Het
Olfr569	T	A	7: 102,887,251	I301F	possibly damaging	Het
Orm2	A	T	4: 63,363,996	D137V	probably damaging	Het
Pabpc2	G	A	18: 39,775,395	G571D	probably damaging	Het
Pabpc4	A	G	4: 123,297,942	N599S	probably damaging	Het
Pak1ip1	T	C	13: 41,012,604	V335A	probably benign	Het
Pcdhb11	A	C	18: 37,423,393	D592A	probably damaging	Het
Pmch	C	A	10: 88,091,258	T41K	possibly damaging	Het
Polb	G	T	8: 22,639,995	S187*	probably null	Het
Pter	G	T	2: 13,000,942	G309*	probably null	Het
Ptprg	T	C	14: 12,219,024	V406A	possibly damaging	Het
Ranbp3l	A	T	15: 9,063,104	E467V	possibly damaging	Het
Rif1	T	A	2: 52,085,141	M354K	probably damaging	Het
Ripk4	C	T	16: 97,748,112	C248Y	probably damaging	Het
Smyd5	C	T	6: 85,440,173	Q178*	probably null	Het
St18	T	A	1: 6,803,024	F328I	probably damaging	Het
Supt20	T	A	3: 54,703,149	L124*	probably null	Het
Tarbp1	T	A	8: 126,447,484	H861L	probably benign	Het
Tars	A	G	15: 11,390,325	M356T	probably benign	Het
Tbc1d10a	A	G	11: 4,212,819	T221A	probably damaging	Het
Tead3	A	G	17: 28,334,698		probably null	Het
Tprg	A	G	16: 25,422,235	T254A	probably damaging	Het
Trank1	C	A	9: 111,391,477	N2427K	probably benign	Het
Ttc30b	A	G	2: 75,938,242	Y56H	probably damaging	Het
Tufm	T	C	7: 126,489,864	S380P	probably damaging	Het
Tyrobp	C	T	7: 30,414,617	R68C	probably damaging	Het
Ubl4b	T	C	3: 107,554,827	E39G	possibly damaging	Het
Uggt2	A	T	14: 119,049,451	F661I	probably damaging	Het
Upf3b	A	G	X: 37,104,467	I144T	probably benign	Het
Usp54	A	T	14: 20,561,252	D1165E	probably benign	Het
Vmn2r81	C	T	10: 79,293,447	T724I	possibly damaging	Het
Vsig1	A	G	X: 140,936,313	I247M	possibly damaging	Het
Zfp110	C	A	7: 12,849,260	L612I	probably benign	Het
Zfp318	C	A	17: 46,413,296	T2075K	probably damaging	Het
Zfp37	A	G	4: 62,191,885	M1T	probably null	Het
Zfp605	T	A	5: 110,128,854	C613S	probably damaging	Het
Zfp729a	G	A	13: 67,621,673	P146S	possibly damaging	Het
Zfp85	T	C	13: 67,748,672	N427S	probably benign	Het

Other mutations in Slc6a15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Slc6a15	APN	10	103389141	missense	probably benign
IGL01320:Slc6a15	APN	10	103404745	missense	probably benign	0.00
IGL01924:Slc6a15	APN	10	103404825	splice site	probably null
IGL02066:Slc6a15	APN	10	103416658	missense	probably damaging	0.98
IGL02164:Slc6a15	APN	10	103418222	missense	probably benign	0.01
IGL02551:Slc6a15	APN	10	103404275	splice site	probably benign
IGL02744:Slc6a15	APN	10	103418033	missense	probably benign	0.03
R0028:Slc6a15	UTSW	10	103416680	missense	probably benign	0.00
R0143:Slc6a15	UTSW	10	103418068	missense	probably benign	0.02
R0158:Slc6a15	UTSW	10	103389347	splice site	probably benign
R0165:Slc6a15	UTSW	10	103409809	missense	probably null	0.04
R0349:Slc6a15	UTSW	10	103418225	missense	probably benign	0.06
R0614:Slc6a15	UTSW	10	103404352	nonsense	probably null
R0784:Slc6a15	UTSW	10	103416800	splice site	probably benign
R0944:Slc6a15	UTSW	10	103409796	missense	probably benign	0.01
R1795:Slc6a15	UTSW	10	103400260	missense	probably benign
R1882:Slc6a15	UTSW	10	103395064	missense	probably benign	0.20
R2061:Slc6a15	UTSW	10	103409734	missense	probably benign	0.20
R2156:Slc6a15	UTSW	10	103393408	missense	probably damaging	1.00
R2358:Slc6a15	UTSW	10	103416785	missense	probably benign	0.00
R2849:Slc6a15	UTSW	10	103404691	missense	probably benign	0.01
R2921:Slc6a15	UTSW	10	103418387	missense	probably damaging	0.99
R3709:Slc6a15	UTSW	10	103393414	missense	probably benign	0.00
R4532:Slc6a15	UTSW	10	103409787	missense	possibly damaging	0.69
R4825:Slc6a15	UTSW	10	103418060	missense	probably benign	0.05
R4909:Slc6a15	UTSW	10	103404414	missense	probably damaging	1.00
R5112:Slc6a15	UTSW	10	103389226	missense	probably benign
R5320:Slc6a15	UTSW	10	103408206	missense	probably damaging	1.00
R5364:Slc6a15	UTSW	10	103393508	missense	probably damaging	0.99
R6305:Slc6a15	UTSW	10	103389170	missense	probably benign	0.31
R6348:Slc6a15	UTSW	10	103404367	missense	probably damaging	1.00
R6729:Slc6a15	UTSW	10	103393914	missense	probably damaging	0.99
R6781:Slc6a15	UTSW	10	103395067	missense	probably damaging	0.99
R7409:Slc6a15	UTSW	10	103408302	missense	probably benign
R7549:Slc6a15	UTSW	10	103389137	missense	probably benign
R7660:Slc6a15	UTSW	10	103393380	splice site	probably null
R7839:Slc6a15	UTSW	10	103404799	missense	probably benign
R7948:Slc6a15	UTSW	10	103404295	missense	possibly damaging	0.95
R8278:Slc6a15	UTSW	10	103394029	critical splice donor site	probably null
R8379:Slc6a15	UTSW	10	103389187	missense	probably benign	0.00
R8685:Slc6a15	UTSW	10	103409695	missense	possibly damaging	0.68
R8712:Slc6a15	UTSW	10	103389251	missense	probably damaging	1.00
R8719:Slc6a15	UTSW	10	103404315	missense	probably damaging	0.99
R8832:Slc6a15	UTSW	10	103389318	missense	probably damaging	1.00
R8940:Slc6a15	UTSW	10	103393496	missense	probably damaging	1.00
R8978:Slc6a15	UTSW	10	103395092	nonsense	probably null
R9050:Slc6a15	UTSW	10	103416655	missense	possibly damaging	0.88
R9113:Slc6a15	UTSW	10	103400279	missense	probably damaging	1.00
R9242:Slc6a15	UTSW	10	103393545	nonsense	probably null
R9493:Slc6a15	UTSW	10	103393416	missense	probably benign	0.35
R9529:Slc6a15	UTSW	10	103404722	missense	probably benign	0.14
R9532:Slc6a15	UTSW	10	103404472	missense	probably damaging	0.98
RF013:Slc6a15	UTSW	10	103400216	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGGTTCTATCAAGCGTCACATTGCC -3'
(R):5'- GCGTCATCTCCTTCCAAGTTCACAG -3'

Sequencing Primer
(F):5'- CATTGAATTTGTTGAATGTCACTTCC -3'
(R):5'- AAGTTCACAGGTTCCTTCAGG -3'

Posted On

2013-04-24