Mutagenetix > Incidental Mutation

Incidental Mutation 'R7409:Slc6a15'

574935

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7409 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103367783-103419377 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103408302 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 468 (I468V)

Ref Sequence

ENSEMBL: ENSMUSP00000073829 (fasta)

Gene Model

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

AlphaFold

Q8BG16

Predicted Effect

probably benign
Transcript: ENSMUST00000074204
AA Change: I468V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000073829
Gene: ENSMUSG00000019894
AA Change: I468V

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
AA Change: I468V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136676
Gene: ENSMUSG00000019894
AA Change: I468V

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (82/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610301B20Rik	T	A	4: 10,881,834	C94S	probably benign	Het
2610507B11Rik	G	T	11: 78,268,757	R544L	probably damaging	Het
Adgrb2	C	T	4: 130,019,069	A1329V	probably benign	Het
Aida	A	G	1: 183,318,874	T215A	probably benign	Het
Alpk2	A	G	18: 65,306,952	S457P	probably benign	Het
Ap4b1	G	A	3: 103,812,158	V63I	probably damaging	Het
Apaf1	A	G	10: 91,067,246	V182A	probably damaging	Het
B4galnt4	G	A	7: 141,067,003		probably null	Het
Cacna1a	T	G	8: 84,533,402	D331E	probably damaging	Het
Carmil2	A	G	8: 105,692,791		probably null	Het
Cdkn1b	A	T	6: 134,921,317	Q133L	probably benign	Het
Cep192	G	C	18: 67,834,803	S786T	possibly damaging	Het
Cfap97	G	A	8: 46,192,696	R537H	probably benign	Het
Clpx	C	G	9: 65,324,247	A552G	possibly damaging	Het
Cryl1	G	A	14: 57,286,385	T240I	probably damaging	Het
Ddx60	C	A	8: 61,958,578	T488K	probably benign	Het
Dennd4b	A	G	3: 90,273,952	H805R	probably benign	Het
Dnmbp	T	C	19: 43,890,557	D25G	unknown	Het
Dysf	A	C	6: 84,149,682	D1293A	probably benign	Het
Efl1	T	C	7: 82,697,913	L549P	probably damaging	Het
Eif5	T	C	12: 111,540,263		probably benign	Het
Eva1c	A	G	16: 90,869,656	K156E	probably damaging	Het
Fbxw10	T	G	11: 62,876,780	V814G	possibly damaging	Het
Gfap	C	T	11: 102,894,532	R206Q	probably benign	Het
Gjb6	A	T	14: 57,124,153	L217*	probably null	Het
Gpatch11	T	A	17: 78,839,166	L80Q	probably damaging	Het
Gramd1b	T	C	9: 40,327,431	Q225R	probably damaging	Het
Gsdmc2	A	G	15: 63,833,346	S173P	possibly damaging	Het
Hars	C	G	18: 36,770,113	R388P	probably damaging	Het
Ighm	C	T	12: 113,422,232	R129H		Het
Igsf9	A	G	1: 172,495,274	I602V	probably benign	Het
Inpp4b	T	G	8: 81,952,685		probably null	Het
Itch	C	A	2: 155,199,382	T450K	probably damaging	Het
Kcnq1	T	C	7: 143,109,415	F20L	unknown	Het
Kmt2d	G	T	15: 98,855,354	A153E	probably damaging	Het
Macf1	T	A	4: 123,504,470	N750I	probably damaging	Het
Marveld2	T	A	13: 100,611,476	H365L	probably damaging	Het
Med13l	T	A	5: 118,754,321	D1936E	probably benign	Het
Mettl8	A	T	2: 70,973,343	V200E	probably damaging	Het
Mrgbp	T	G	2: 180,585,342	S157A	possibly damaging	Het
Mrps35	A	G	6: 147,055,983	T169A	possibly damaging	Het
Mycbp2	A	T	14: 103,288,744	Y551N	probably damaging	Het
Myo18b	T	C	5: 112,874,105	R474G	probably benign	Het
Nfx1	T	A	4: 41,021,830	S979R	possibly damaging	Het
Nlrp1a	T	C	11: 71,122,808	T539A	probably benign	Het
Oca2	T	A	7: 56,414,397	D713E	probably benign	Het
Olfr433	T	A	1: 174,042,533	H194Q	probably benign	Het
Olfr60	C	T	7: 140,345,405	V195I	probably benign	Het
Olfr768	A	G	10: 129,093,212	I254T	probably damaging	Het
Olfr816	A	T	10: 129,912,251	V9D	possibly damaging	Het
Omt2b	A	C	9: 78,328,612	Y73S	probably benign	Het
Pde11a	G	T	2: 76,005,984	Q20K		Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Phrf1	C	A	7: 141,259,292	T800K	unknown	Het
Pramel4	T	C	4: 144,068,491	S486P	probably benign	Het
Proc	T	C	18: 32,127,460	D204G	probably benign	Het
Rasgrp3	T	A	17: 75,516,416	I494N	possibly damaging	Het
Samm50	A	G	15: 84,197,030	D53G	probably benign	Het
Satb1	T	C	17: 51,809,189	D22G	possibly damaging	Het
Scarf2	T	C	16: 17,807,054	S658P	probably damaging	Het
Sfta2	T	A	17: 35,614,518	I29K	unknown	Het
Slc15a4	A	T	5: 127,604,678	S292T	probably benign	Het
Slc37a1	C	T	17: 31,340,263	T439I	probably damaging	Het
Slc4a9	C	A	18: 36,530,805	P294Q	probably damaging	Het
Slc52a3	T	C	2: 152,004,166	S16P	probably damaging	Het
Spag17	T	C	3: 100,027,231	S610P	possibly damaging	Het
Spag17	A	T	3: 100,034,159	D738V	probably benign	Het
Ssbp4	T	C	8: 70,597,967	R269G	unknown	Het
Tbl1xr1	A	G	3: 22,203,190	T406A	possibly damaging	Het
Tep1	A	T	14: 50,866,855	V194D	possibly damaging	Het
Thbs4	A	T	13: 92,773,259	C343*	probably null	Het
Tmed10	A	T	12: 85,344,291	S158T	possibly damaging	Het
Trbv3	T	A	6: 41,048,590	V38E	probably damaging	Het
Ttc6	T	C	12: 57,696,986	M1258T	probably damaging	Het
Ttn	T	C	2: 76,758,976	D21281G	probably damaging	Het
Twistnb	T	G	12: 33,436,989	C150W	possibly damaging	Het
Usp54	T	C	14: 20,552,245	R1346G	probably damaging	Het
Vmn2r8	C	A	5: 108,808,583	E58*	probably null	Het
Vps13d	C	T	4: 145,141,254	E2009K		Het
Vps33b	T	C	7: 80,285,269	I320T	probably damaging	Het
Vwa8	A	C	14: 78,982,234		probably null	Het
Ythdf1	T	C	2: 180,911,993	Y143C	probably damaging	Het
Zfp213	C	T	17: 23,559,629		probably null	Het
Zfp219	A	T	14: 52,007,113	Y536*	probably null	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
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
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'- GGAATAAAGCGTATCTTGGCGTATTTC -3'
(R):5'- TAACACAGTCCAATTGCAGTCTC -3'

Sequencing Primer
(F):5'- GCGTATTTCTTTGCAGCAGC -3'
(R):5'- CAGTCCAATTGCAGTCTCTAATATC -3'

Posted On

2019-10-07