Mutagenetix > Incidental Mutation

Incidental Mutation 'R0158:Slc6a15'

22988

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

038438-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0158 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103367783-103419377 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 103389347 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151517 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074204] [ENSMUST00000179636] [ENSMUST00000217905]

AlphaFold

Q8BG16

Predicted Effect

probably benign
Transcript: ENSMUST00000074204

SMART Domains

Protein: ENSMUSP00000073829
Gene: ENSMUSG00000019894

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 benign
Transcript: ENSMUST00000179636

SMART Domains

Protein: ENSMUSP00000136676
Gene: ENSMUSG00000019894

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 benign
Transcript: ENSMUST00000217905

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219936

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.3%
20x: 89.1%

Validation Efficiency

93% (79/85)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	G	1: 26,683,951	H716P	probably damaging	Het
9530053A07Rik	A	G	7: 28,155,492	I1848V	probably damaging	Het
Abcf3	C	T	16: 20,552,566	R437C	probably damaging	Het
Abhd3	A	G	18: 10,647,840	Y315H	possibly damaging	Het
Adam19	C	T	11: 46,143,034	P891L	probably damaging	Het
Ampd1	T	A	3: 103,091,730	Y400*	probably null	Het
Ap1g1	T	C	8: 109,855,635	S724P	probably benign	Het
BC067074	T	A	13: 113,369,153	L2272*	probably null	Het
Bst2	T	A	8: 71,537,217	T71S	possibly damaging	Het
C3	A	G	17: 57,224,851		probably null	Het
Cacna2d1	C	A	5: 16,361,817		probably benign	Het
Cacna2d4	C	T	6: 119,236,748	H43Y	possibly damaging	Het
Ccdc71	T	G	9: 108,464,137	V383G	probably benign	Het
Cd109	A	T	9: 78,688,932	Q849L	possibly damaging	Het
Cdkn2a	A	T	4: 89,276,767	H115Q	possibly damaging	Het
Ces1e	T	C	8: 93,219,429	E161G	probably benign	Het
Cggbp1	C	T	16: 64,855,838	S89L	possibly damaging	Het
Crocc	A	T	4: 141,042,242		probably benign	Het
Eef1akmt3	G	A	10: 127,033,273	Q111*	probably null	Het
Exoc7	T	C	11: 116,295,292	N361S	probably benign	Het
Fat2	G	T	11: 55,296,185	S1278R	probably benign	Het
Fbxo42	A	G	4: 141,200,329	N640S	probably benign	Het
Fbxw25	A	G	9: 109,654,652	V164A	possibly damaging	Het
Foxs1	T	C	2: 152,932,410	E241G	probably damaging	Het
Fras1	A	T	5: 96,776,634	I3645F	possibly damaging	Het
Gm14496	T	A	2: 181,997,413	V432E	probably benign	Het
Herc1	T	A	9: 66,495,921	L4374*	probably null	Het
Hist1h3b	T	A	13: 23,752,710	C111S	probably damaging	Het
Ift122	T	C	6: 115,924,484		probably benign	Het
Itgav	C	A	2: 83,792,037	N654K	probably benign	Het
Itih5	T	C	2: 10,234,992		probably benign	Het
Jak2	C	A	19: 29,311,757	T1103K	probably benign	Het
Kcnc4	C	A	3: 107,458,604	C96F	probably benign	Het
Med13l	C	A	5: 118,742,449	S1202Y	unknown	Het
Mefv	T	C	16: 3,715,456	E317G	possibly damaging	Het
Ncoa2	T	C	1: 13,152,384	T1226A	probably benign	Het
Nktr	C	T	9: 121,750,691		probably benign	Het
Nudt5	G	A	2: 5,862,303	V61M	probably damaging	Het
Olfr33	C	T	7: 102,713,955	A153T	probably benign	Het
Palm2	A	G	4: 57,709,649	D198G	possibly damaging	Het
Papd5	G	A	8: 88,250,743	G391D	probably damaging	Het
Pcdhb2	A	C	18: 37,297,230	Y752S	probably damaging	Het
Pcnx4	A	G	12: 72,556,302	D446G	probably benign	Het
Pnp2	G	A	14: 50,964,304	R249H	probably damaging	Het
Rgs3	A	T	4: 62,623,884	I32F	probably damaging	Het
Rnf139	A	G	15: 58,898,878	T251A	probably benign	Het
Rnf41	A	G	10: 128,438,235	E252G	probably damaging	Het
Rxfp2	T	A	5: 150,051,628	F220Y	probably benign	Het
Sdcbp	A	G	4: 6,379,042	D43G	possibly damaging	Het
Serpina3f	A	G	12: 104,217,008	D43G	probably damaging	Het
Sftpc	T	C	14: 70,521,447	K154R	probably null	Het
Simc1	A	G	13: 54,524,717	T293A	probably benign	Het
Skint6	A	T	4: 113,184,814		probably benign	Het
Ston2	A	T	12: 91,740,602	I78N	probably damaging	Het
Taok3	T	C	5: 117,217,242		probably null	Het
Tiam1	C	T	16: 89,793,001		probably benign	Het
Tnfsf15	T	C	4: 63,729,992	H137R	possibly damaging	Het
Tpte	G	A	8: 22,327,739	R247H	possibly damaging	Het
Trim2	T	C	3: 84,210,169		probably benign	Het
Ulk1	A	T	5: 110,788,944		probably benign	Het
Utp4	T	G	8: 106,913,386	H442Q	probably null	Het
Vmn1r193	T	A	13: 22,219,628	I65F	probably damaging	Het
Vps54	A	T	11: 21,306,962	Q690L	probably damaging	Het
Ybx2	T	C	11: 69,940,319		probably benign	Het
Zbtb38	C	T	9: 96,686,940	G697D	possibly damaging	Het
Zfp202	C	T	9: 40,208,916	Q218*	probably null	Het
Zfp820	G	A	17: 21,819,819	T176I	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
R0165:Slc6a15	UTSW	10	103409809	missense	probably null	0.04
R0349:Slc6a15	UTSW	10	103418225	missense	probably benign	0.06
R0383:Slc6a15	UTSW	10	103418053	missense	probably damaging	1.00
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'- CTGTCCAACGAAGACTCAGTGGAAG -3'
(R):5'- TCCAGGGACAAAGTTTGGGAATGTG -3'

Sequencing Primer
(F):5'- AGTGAACTAATTGTCGATGTTCAGG -3'
(R):5'- GGCCAATCTGTTCCTATGGAAAC -3'

Posted On

2013-04-16