Mutagenetix > Incidental Mutation

Incidental Mutation 'R9050:Slc6a15'

688303

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 #

R9050 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103367783-103419377 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103416655 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 560 (M560L)

Ref Sequence

ENSEMBL: ENSMUSP00000073829 (fasta)

Gene Model

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

AlphaFold

Q8BG16

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074204
AA Change: M560L

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073829
Gene: ENSMUSG00000019894
AA Change: M560L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179636
AA Change: M560L

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000136676
Gene: ENSMUSG00000019894
AA Change: M560L

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

Meta Mutation Damage Score

0.6090

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

96% (53/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	C	9: 122,379,540	Y332H	probably benign	Het
Apoc3	A	G	9: 46,233,294	F77L	probably benign	Het
Atp5c1	A	T	2: 10,064,238	D99E	probably damaging	Het
Atxn3	A	T	12: 101,958,128		probably benign	Het
Calcoco1	A	G	15: 102,709,965	V463A	probably damaging	Het
Cby3	A	G	11: 50,357,790	T20A	possibly damaging	Het
Cdhr2	A	G	13: 54,735,320	D1256G	probably benign	Het
Cep350	A	T	1: 155,862,941	D2385E	possibly damaging	Het
Clec9a	G	C	6: 129,419,598	A170P	possibly damaging	Het
Col5a3	C	T	9: 20,786,395	G871S	probably damaging	Het
Fmo4	A	G	1: 162,807,530	S159P	probably benign	Het
Gabbr2	A	G	4: 46,798,659	F272L	probably benign	Het
Glp1r	G	A	17: 30,918,918	G108S	probably damaging	Het
Gm13078	A	T	4: 143,726,759	T146S	probably benign	Het
Gm1673	G	C	5: 33,983,530	A29P	unknown	Het
Herpud1	T	C	8: 94,390,826	S13P	probably benign	Het
Hps5	T	C	7: 46,773,183	D574G	probably benign	Het
Il7	A	G	3: 7,604,110	V22A	possibly damaging	Het
Kmt5c	A	G	7: 4,742,282	T91A	probably benign	Het
Mgea5	T	C	19: 45,767,915	T430A	probably damaging	Het
Mrpl39	A	C	16: 84,734,956		probably benign	Het
Mtr	T	C	13: 12,216,862	D652G	probably null	Het
Neb	C	T	2: 52,189,889	V5768M	probably damaging	Het
Ngef	G	A	1: 87,503,288	P269L	probably damaging	Het
Nmrk1	T	A	19: 18,641,175	M74K	probably benign	Het
Obox8	A	G	7: 14,332,945	L58P	unknown	Het
Olfr1359	A	G	13: 21,702,980		probably benign	Het
Olfr1391	T	C	11: 49,328,103	S231P	possibly damaging	Het
Olfr486	A	C	7: 108,171,880	L288W	probably damaging	Het
Olfr99	A	G	17: 37,279,929	Y164H	probably damaging	Het
Pcdhb17	T	G	18: 37,487,233	V692G	probably damaging	Het
Pfas	A	G	11: 68,991,741	V829A	probably benign	Het
Pth	A	G	7: 113,385,836	V110A	probably benign	Het
Rabggta	T	A	14: 55,721,599	Q37L	probably benign	Het
Rin3	A	G	12: 102,369,479	T550A	probably damaging	Het
Scn8a	G	A	15: 101,008,280	V785I	possibly damaging	Het
Sec24d	T	C	3: 123,350,725	V617A	probably benign	Het
Slc47a1	T	C	11: 61,344,334	I558V	probably benign	Het
Slfn9	G	A	11: 82,988,294	T3I	probably benign	Het
Spag9	A	G	11: 94,044,468	H35R	probably damaging	Het
Spats2	G	T	15: 99,212,129	R469L	possibly damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,317,519		probably benign	Het
Ssx2ip	C	T	3: 146,438,757	S592L	possibly damaging	Het
Ston1	A	G	17: 88,636,800	T545A	probably benign	Het
Suz12	C	T	11: 80,022,197	L379F	probably damaging	Het
Tbc1d24	A	T	17: 24,185,924	V82E	possibly damaging	Het
Tbc1d24	C	A	17: 24,185,925	V82L	probably benign	Het
Thada	A	G	17: 84,429,201	I884T	probably damaging	Het
Tln1	C	A	4: 43,549,786	E542*	probably null	Het
Togaram2	T	C	17: 71,700,883	L401P	probably damaging	Het
Ttbk2	A	T	2: 120,806,838	N115K	probably benign	Het
Tubgcp4	G	A	2: 121,173,598	S40N	probably benign	Het
Wrn	T	C	8: 33,342,993	D157G	probably damaging	Het
Zer1	A	T	2: 30,111,282	F70Y	probably damaging	Het
Zfp791	T	C	8: 85,110,705	I177V	possibly 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
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
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'- TGTGCATAGCTGTATGTATACATGT -3'
(R):5'- TGCAGCAGTGGGAGGTATATATTATAA -3'

Sequencing Primer
(F):5'- CCTCACATGCTTGAATGGTAGGC -3'
(R):5'- ACAAAGTGGTGGCATATTTTCAC -3'

Posted On

2021-11-19