Mutagenetix > Incidental Mutation

Incidental Mutation 'R8719:Slc6a15'

670024

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 #

R8719 (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 103404315 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 300 (R300G)

Ref Sequence

ENSEMBL: ENSMUSP00000073829 (fasta)

Gene Model

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

AlphaFold

Q8BG16

Predicted Effect

probably damaging
Transcript: ENSMUST00000074204
AA Change: R300G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000073829
Gene: ENSMUSG00000019894
AA Change: R300G

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: R300G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136676
Gene: ENSMUSG00000019894
AA Change: R300G

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	T	C	8: 46,513,663	I224T	probably benign	Het
Adamts20	C	G	15: 94,344,022	A702P	probably damaging	Het
Ahdc1	T	A	4: 133,064,222	Y925N	possibly damaging	Het
Anapc1	T	C	2: 128,641,449	E1242G	probably damaging	Het
Angptl2	A	G	2: 33,243,902	N412S	possibly damaging	Het
Aox3	T	C	1: 58,119,537	V89A	probably damaging	Het
Atxn1l	A	T	8: 109,733,229	S134T	possibly damaging	Het
Brf1	C	A	12: 112,979,684		probably benign	Het
Cab39l	A	T	14: 59,496,865	H11L	probably benign	Het
Cabcoco1	A	G	10: 68,436,841		probably benign	Het
Ccdc150	C	A	1: 54,263,509	P96Q	probably benign	Het
Chek2	T	C	5: 110,867,042	V459A	probably damaging	Het
Cntnap2	A	T	6: 46,001,227	D272V	probably damaging	Het
Cspp1	T	C	1: 10,090,291	S572P	possibly damaging	Het
Cysltr2	T	C	14: 73,029,671	T200A	possibly damaging	Het
Dglucy	T	C	12: 100,838,562	L104P	probably damaging	Het
Dnah8	T	A	17: 30,741,315	M2222K	probably damaging	Het
Dync2h1	C	A	9: 7,041,641	V3334F	probably benign	Het
Ear2	A	T	14: 44,103,277	T131S	possibly damaging	Het
Eef1akmt2	A	T	7: 132,850,611	V92D	probably damaging	Het
Fam83c	T	A	2: 155,829,208	Q769L	probably benign	Het
Fanca	A	T	8: 123,288,128	C812S	probably benign	Het
Gm21663	T	G	5: 25,941,164	R50S	probably damaging	Het
Gm5591	T	G	7: 38,522,190	S152R	probably benign	Het
Gm6370	T	G	5: 146,493,816	D270E	probably damaging	Het
H2-T22	T	C	17: 36,041,943	I91V	probably benign	Het
Hdac5	T	C	11: 102,207,137	M61V	probably benign	Het
Hsd17b6	A	G	10: 127,993,623	S237P	possibly damaging	Het
Khk	T	A	5: 30,931,030	F294I	possibly damaging	Het
Klc1	G	A	12: 111,806,075		probably benign	Het
Lamb3	T	C	1: 193,323,791	W143R	probably damaging	Het
Lmo2	T	C	2: 103,980,919	I171T	probably damaging	Het
Meis1	A	G	11: 18,885,587	S344P	probably benign	Het
Nf1	C	A	11: 79,390,293	R125S	possibly damaging	Het
Nrcam	A	G	12: 44,539,542	E105G	probably benign	Het
Nudt22	T	C	19: 6,995,270	D150G	possibly damaging	Het
Olfr1434	A	G	19: 12,283,428	I127V	probably benign	Het
Olfr1463	A	G	19: 13,234,472	Y74C	probably damaging	Het
Olfr761	T	C	17: 37,953,004	T7A	probably damaging	Het
Pclo	A	T	5: 14,713,764	R799*	probably null	Het
Pelp1	T	C	11: 70,401,963	N175S	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,218,068		probably benign	Het
Pik3r4	C	A	9: 105,682,195	S1162R	probably benign	Het
Pkd1l3	A	T	8: 109,614,623	N36I	unknown	Het
Pomk	T	A	8: 25,983,475	Y150F	possibly damaging	Het
Rdh11	T	A	12: 79,182,800	H233L	probably benign	Het
Rln1	A	T	19: 29,331,881	M166K	probably benign	Het
Rnf40	T	A	7: 127,592,662	L356Q	probably damaging	Het
Sin3b	G	T	8: 72,723,511	G19W	unknown	Het
Sncaip	A	T	18: 52,894,838	K433M	probably damaging	Het
Tead2	A	T	7: 45,232,892		probably benign	Het
Tespa1	A	G	10: 130,348,239	D63G	probably benign	Het
Tmem117	T	C	15: 95,094,367	F303L	probably damaging	Het
Tmem270	T	G	5: 134,901,796	T204P	probably damaging	Het
Trip12	A	G	1: 84,745,069	V1320A	probably damaging	Het
Ttc7b	A	G	12: 100,301,553	L843P	probably damaging	Het
Ttn	T	C	2: 76,712,697	Y33315C	probably damaging	Het
Ttn	A	G	2: 76,776,802	V17959A	possibly damaging	Het
Vmn2r73	A	G	7: 85,871,887	V291A	probably damaging	Het
Ywhag	T	A	5: 135,911,144	T199S	probably benign	Het
Zfp810	T	C	9: 22,279,275	T77A	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
R8712:Slc6a15	UTSW	10	103389251	missense	probably damaging	1.00
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'- CCTGTTGCATTCTTAGGTGC -3'
(R):5'- TTTACGATATTGGCTTTGAACCCC -3'

Sequencing Primer
(F):5'- TGCATTCTTAGGTGCTTTCCTAG -3'
(R):5'- ATTGGCTTTGAACCCCAGAACTG -3'

Posted On

2021-04-30