Mutagenetix > Incidental Mutation

Incidental Mutation 'R8712:Slc6a15'

669657

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 #

R8712 (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 103389251 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 67 (K67E)

Ref Sequence

ENSEMBL: ENSMUSP00000073829 (fasta)

Gene Model

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

AlphaFold

Q8BG16

Predicted Effect

probably damaging
Transcript: ENSMUST00000074204
AA Change: K67E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000073829
Gene: ENSMUSG00000019894
AA Change: K67E

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: K67E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136676
Gene: ENSMUSG00000019894
AA Change: K67E

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: ENSMUST00000217905
AA Change: K67E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	A	T	16: 85,798,008	N617K	probably benign	Het
Adnp2	A	T	18: 80,130,970	C75S	probably damaging	Het
Agmo	T	C	12: 37,357,674	F186L	possibly damaging	Het
Ahnak2	T	C	12: 112,786,252	Y122C		Het
Ahnak2	T	C	12: 112,787,089	E71G		Het
Aldh5a1	A	G	13: 24,918,541	V313A	probably damaging	Het
Ankib1	C	A	5: 3,772,643	C21F	probably benign	Het
Aqr	A	G	2: 114,118,877	Y947H	probably damaging	Het
Atp1a2	T	A	1: 172,275,980	Y991F	probably benign	Het
Atp8b3	G	A	10: 80,530,089	T309M	possibly damaging	Het
Blzf1	T	A	1: 164,298,290	D259V	possibly damaging	Het
Cacng5	T	C	11: 107,881,684	I113V	probably benign	Het
Catsper3	T	C	13: 55,805,844	M269T	probably benign	Het
Ccdc142	A	C	6: 83,102,252	Y190S	probably damaging	Het
Ccdc159	C	A	9: 21,933,755	Q306K	probably benign	Het
Ccdc180	A	T	4: 45,920,842		probably null	Het
Cebpz	A	G	17: 78,921,652	F955S	possibly damaging	Het
Cftr	C	T	6: 18,274,697	T938I	probably damaging	Het
Col28a1	T	C	6: 8,013,133	K973R	probably benign	Het
Cyp2c29	T	C	19: 39,321,694		probably benign	Het
Ddx1	A	G	12: 13,243,858		probably benign	Het
Duox2	A	C	2: 122,289,345	Y867*	probably null	Het
Ereg	T	C	5: 91,089,154	Y111H	possibly damaging	Het
Esrrb	T	A	12: 86,518,950	L417Q	probably damaging	Het
Fbxw7	G	A	3: 84,952,377	R2H	unknown	Het
Galnt6	C	T	15: 100,694,620	V569I	probably benign	Het
Gm14226	G	A	2: 155,024,174	C17Y	unknown	Het
Gpr150	T	G	13: 76,056,523	D101A	probably damaging	Het
Grm1	A	T	10: 10,689,552	L1004Q	probably benign	Het
Gtf2a1l	T	A	17: 88,714,923	D447E	probably damaging	Het
Gtf2ird1	C	T	5: 134,415,210	V64M	probably damaging	Het
Ifi206	A	T	1: 173,480,508	W641R		Het
Ifi214	T	A	1: 173,527,920	E107D	possibly damaging	Het
Kif19a	T	C	11: 114,784,773	V357A	probably damaging	Het
Klhdc7b	T	A	15: 89,386,822	S636T	probably benign	Het
Klhl25	C	T	7: 75,865,672	R109C	probably damaging	Het
Ltbp2	T	C	12: 84,806,350	E835G	probably benign	Het
March1	A	G	8: 66,468,348	K226E	probably damaging	Het
Mcpt1	T	C	14: 56,018,713		probably benign	Het
Myrf	C	A	19: 10,215,070	R639L	probably benign	Het
Naip5	T	C	13: 100,223,096	H544R	possibly damaging	Het
Nccrp1	T	C	7: 28,546,344	I132V	probably benign	Het
Nprl3	C	T	11: 32,237,334	V333I	possibly damaging	Het
Olfr1318	A	T	2: 112,156,589	I213F	probably damaging	Het
Olfr1385	T	A	11: 49,494,844	S104T	probably benign	Het
Olfr1394	T	C	11: 49,160,470	M152T	probably benign	Het
Olfr300-ps1	T	C	7: 86,443,715	S245P	probably damaging	Het
Olfr32	A	T	2: 90,138,770	I123N	probably damaging	Het
Olfr539	C	T	7: 140,668,139	S277L	possibly damaging	Het
Olfr648	T	C	7: 104,179,818	N197D	probably damaging	Het
Olfr680-ps1	C	A	7: 105,092,601	V73F	possibly damaging	Het
Olfr893	T	C	9: 38,209,803	V248A	probably benign	Het
Olfr974	T	C	9: 39,942,595	S112P	probably damaging	Het
Otx2	A	G	14: 48,659,064	M179T	probably damaging	Het
Pmfbp1	A	G	8: 109,538,677		probably benign	Het
Ppfia3	T	A	7: 45,361,705	T34S	probably benign	Het
Prkcsh	T	C	9: 22,013,079	Y502H	probably damaging	Het
Psd	T	C	19: 46,313,336	E937G	probably damaging	Het
Rbbp6	T	A	7: 123,001,753	I1661N	unknown	Het
Rhobtb1	T	A	10: 69,270,757	M446K	probably damaging	Het
Sall3	T	C	18: 80,974,021	I231V	probably benign	Het
Slc12a9	C	T	5: 137,327,654	V270I	probably damaging	Het
Slc9c1	A	G	16: 45,560,283	D524G	probably benign	Het
Smpdl3a	A	G	10: 57,811,430	D418G	probably benign	Het
Sox6	T	C	7: 115,597,508	T296A	probably benign	Het
Ssu2	T	C	6: 112,384,438	E19G	probably damaging	Het
Tctn3	T	C	19: 40,611,726	N90S	probably damaging	Het
Tex24	A	G	8: 27,344,624	Q60R	possibly damaging	Het
Tlcd1	T	A	11: 78,179,644	*128R	probably null	Het
Tti1	A	C	2: 157,993,010	L1010R	probably damaging	Het
Ttn	A	G	2: 76,737,338	L27737P	probably damaging	Het
Ubqln5	T	A	7: 104,129,115	K167N	probably benign	Het
Unkl	A	G	17: 25,231,715	I492V	possibly damaging	Het
Vmn1r8	G	A	6: 57,036,680	V239I	probably benign	Het
Vmn2r101	T	A	17: 19,591,135	L494I	probably benign	Het
Vmn2r54	G	T	7: 12,635,950	T62K	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
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
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'- GCCTCAAGGGTGTCTTTAAGAAG -3'
(R):5'- GAGAATGCAGTAACAATAGGATCTACC -3'

Sequencing Primer
(F):5'- TCCAATGCCTAAGAATAGCAAAGTG -3'
(R):5'- CTGAAATACAGGATTGCCCTTTACGG -3'

Posted On

2021-04-30