Mutagenetix > Incidental Mutation

Incidental Mutation 'R7549:Slc6a15'

584405

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7549 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103367783-103419377 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103389137 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 29 (S29P)

Ref Sequence

ENSEMBL: ENSMUSP00000073829 (fasta)

Gene Model

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

AlphaFold

Q8BG16

Predicted Effect

probably benign
Transcript: ENSMUST00000074204
AA Change: S29P

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

SMART Domains

Protein: ENSMUSP00000073829
Gene: ENSMUSG00000019894
AA Change: S29P

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: S29P

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

SMART Domains

Protein: ENSMUSP00000136676
Gene: ENSMUSG00000019894
AA Change: S29P

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
AA Change: S29P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	G	T	13: 31,558,995	R92S	unknown	Het
Adam1b	A	G	5: 121,501,918	C355R	probably damaging	Het
Adamtsl3	T	C	7: 82,573,909	L966P	probably damaging	Het
Aldh18a1	A	G	19: 40,564,847	C486R	probably damaging	Het
Aqp11	C	A	7: 97,738,077		probably benign	Het
Arhgap28	A	G	17: 67,871,966	L350P	probably damaging	Het
Art3	A	G	5: 92,403,655	Q291R	probably benign	Het
Asb15	A	G	6: 24,559,030		probably null	Het
Bmp8b	T	C	4: 123,105,655	I102T	possibly damaging	Het
Bsn	T	C	9: 108,114,815	D1246G	probably benign	Het
Cass4	G	A	2: 172,426,798	G267S	probably benign	Het
Cass4	G	T	2: 172,426,799	G267V	probably benign	Het
Ccr7	T	C	11: 99,145,901	Y65C	probably damaging	Het
Clstn2	A	C	9: 97,582,544	I186S	probably benign	Het
Cyp2r1	A	G	7: 114,554,644	I105T	possibly damaging	Het
Efr3a	T	A	15: 65,815,413		probably null	Het
Erg	A	C	16: 95,369,320		probably null	Het
Eya4	A	T	10: 23,111,658	V524E	probably damaging	Het
Farp1	C	A	14: 121,235,177	N241K	possibly damaging	Het
Fat1	A	T	8: 44,988,994	Y1111F	probably benign	Het
Fbn1	T	C	2: 125,344,027	E1607G	probably damaging	Het
Fbn2	A	T	18: 58,020,464	C2575*	probably null	Het
Fsip2	A	T	2: 82,993,993	D6690V	probably damaging	Het
Fzd4	T	C	7: 89,407,138	V131A	possibly damaging	Het
Gfral	T	A	9: 76,198,975	N110I	probably benign	Het
Glce	T	C	9: 62,060,993	D292G	probably damaging	Het
Gm19410	T	A	8: 35,799,346	I1051K	probably benign	Het
Gm5773	A	T	3: 93,773,016		probably benign	Het
Hcn3	A	T	3: 89,150,000	H430Q	probably null	Het
Hspa8	T	A	9: 40,802,959		probably null	Het
Ifna7	A	T	4: 88,816,427	D67V	possibly damaging	Het
Kif5c	T	A	2: 49,701,093	M319K	probably benign	Het
Klk7	G	T	7: 43,812,773		probably null	Het
Kmt2c	T	C	5: 25,414,970	K102E	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lrp1b	C	T	2: 40,875,122	M2897I		Het
Lysmd2	T	C	9: 75,637,237	S211P	probably damaging	Het
Magi1	T	G	6: 93,708,114	E761A	probably benign	Het
Mbd5	T	A	2: 49,251,343	I106N	probably damaging	Het
Mdc1	G	A	17: 35,848,857	A669T	probably null	Het
Mmp1b	A	G	9: 7,384,753	I265T	probably benign	Het
Mmp2	T	A	8: 92,836,966	L356Q	probably null	Het
Mroh8	A	G	2: 157,269,572	L154P	probably benign	Het
Muc13	T	C	16: 33,799,436	S185P	unknown	Het
Nuak1	T	A	10: 84,374,539	I562F	probably benign	Het
Obscn	C	A	11: 59,042,838		probably null	Het
Olfr1137	A	T	2: 87,711,771	M45K	probably damaging	Het
Olfr574	T	C	7: 102,948,591	I42T	possibly damaging	Het
Olfr827	T	C	10: 130,210,984	M49V	probably benign	Het
Pex3	T	C	10: 13,542,670	M81V	probably benign	Het
Pex5l	T	A	3: 33,082,035	I12F	probably benign	Het
Phf3	G	T	1: 30,831,475	T164N	probably benign	Het
Phpt1	G	T	2: 25,574,832	A3E	probably benign	Het
Pja2	A	T	17: 64,309,415	L162M	probably damaging	Het
Pkdrej	T	A	15: 85,819,793	K647N	probably damaging	Het
Ppp2r1a	T	C	17: 20,962,682	S543P	possibly damaging	Het
Prdm13	C	A	4: 21,679,072	D473Y	probably damaging	Het
Prl6a1	A	T	13: 27,318,971	E183D	probably damaging	Het
Psmd3	C	T	11: 98,690,961	T304M	probably benign	Het
Ptpn5	C	T	7: 47,086,126		probably null	Het
Rassf6	T	G	5: 90,606,802	I206L	probably damaging	Het
Rif1	A	G	2: 52,078,507	H234R	possibly damaging	Het
Rint1	T	C	5: 23,815,704	V575A	probably benign	Het
Ros1	G	A	10: 52,145,834	T639I	probably damaging	Het
Ryr2	A	G	13: 11,737,985	F1817L	probably benign	Het
Ska1	T	C	18: 74,200,017	D110G	probably benign	Het
Slc25a41	G	A	17: 57,033,791	T227I	probably damaging	Het
Slc8a3	A	T	12: 81,314,770	I425K	probably benign	Het
Sox8	T	A	17: 25,567,961	Q256L	probably damaging	Het
Tarsl2	T	C	7: 65,647,593	V152A	probably damaging	Het
Tbx10	A	T	19: 3,996,651	T44S	probably benign	Het
Terb1	T	A	8: 104,498,084	I52F	possibly damaging	Het
Tes	AGCCGGCC	AGCC	6: 17,099,741		probably null	Het
Tgm1	A	G	14: 55,705,903	V527A	probably benign	Het
Tmed10	G	T	12: 85,344,262	Y167*	probably null	Het
Tmem165	T	G	5: 76,208,568	S318R	possibly damaging	Het
Trim9	G	T	12: 70,346,941	S76R	probably damaging	Het
Tti1	A	G	2: 158,007,168	V717A	probably damaging	Het
Vmn2r86	T	A	10: 130,446,828	I640F	probably damaging	Het
Vwf	A	G	6: 125,626,267	N860S		Het
Xirp2	A	G	2: 67,508,897	K494R	possibly damaging	Het
Zkscan4	G	A	13: 21,484,249	S319N	probably damaging	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
R7409:Slc6a15	UTSW	10	103408302	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'- GGATCCATAATAGTTTCTCACCTTG -3'
(R):5'- ACCATTCTTTTGGCAGAGGTATGG -3'

Sequencing Primer
(F):5'- TGCCTCAAGGGTGTCTTT -3'
(R):5'- GGGAACCGCCACACATTC -3'

Posted On

2019-10-17