Mutagenetix > Incidental Mutation

Incidental Mutation 'R9242:Slc6a15'

701055

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 #

R9242 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103367783-103419377 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 103393545 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 148 (C148*)

Ref Sequence

ENSEMBL: ENSMUSP00000073829 (fasta)

Gene Model

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

AlphaFold

Q8BG16

Predicted Effect

probably null
Transcript: ENSMUST00000074204
AA Change: C148*

SMART Domains

Protein: ENSMUSP00000073829
Gene: ENSMUSG00000019894
AA Change: C148*

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 null
Transcript: ENSMUST00000179636
AA Change: C148*

SMART Domains

Protein: ENSMUSP00000136676
Gene: ENSMUSG00000019894
AA Change: C148*

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

Meta Mutation Damage Score

0.9707

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (49/49)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430089I19Rik	G	T	5: 94,303,142	P375H	probably damaging	Het
Abcb4	C	A	5: 8,899,677	T79K	probably damaging	Het
Ackr3	G	T	1: 90,214,836	G339V	probably damaging	Het
Agpat4	G	T	17: 12,210,299	R146L	probably damaging	Het
Ampd1	C	T	3: 103,091,620	R364C	probably damaging	Het
Atrnl1	A	G	19: 57,657,228	T507A	probably benign	Het
Cand2	C	G	6: 115,791,962	R578G	probably benign	Het
Capg	C	T	6: 72,555,886	P111L	probably damaging	Het
Carm1	C	T	9: 21,583,054	T289I	probably damaging	Het
Ccr6	A	G	17: 8,256,133	I57V	probably benign	Het
Cdk5rap2	T	C	4: 70,337,346	I434V	possibly damaging	Het
Chrdl2	C	T	7: 100,006,536		probably benign	Het
Cntnap5a	A	G	1: 116,292,379	T640A	probably benign	Het
Ctsd	T	C	7: 142,383,543		probably null	Het
D17H6S53E	G	T	17: 35,127,560	R149L	possibly damaging	Het
Dync1i1	A	G	6: 5,769,706	T77A	probably benign	Het
Emc2	T	C	15: 43,495,243	M100T	probably benign	Het
Esrra	A	G	19: 6,912,495	V290A	probably benign	Het
Fbl	T	C	7: 28,177,195	I207T	probably benign	Het
Fktn	G	A	4: 53,734,854	G125D	probably benign	Het
Gcc1	T	A	6: 28,420,376	N314I	possibly damaging	Het
Gzmm	A	T	10: 79,694,520	D175V	probably damaging	Het
Heatr1	G	A	13: 12,433,925	M1840I	probably benign	Het
Helz	T	C	11: 107,632,327	L779P	probably damaging	Het
Impg1	T	A	9: 80,381,782	N331I	probably damaging	Het
Inmt	C	T	6: 55,173,285		probably null	Het
Inpp5a	C	T	7: 139,481,718	T102M	probably damaging	Het
Lamc3	A	G	2: 31,898,311	Y161C	probably benign	Het
Lpin2	A	G	17: 71,246,971	*932W	probably null	Het
Lrp3	C	T	7: 35,202,509	R649H	probably benign	Het
Madd	G	A	2: 91,143,604	T1464I	probably damaging	Het
Nceh1	C	A	3: 27,239,628	Y178*	probably null	Het
Olfr1446	T	A	19: 12,890,625		probably benign	Het
Olfr291	A	T	7: 84,856,878	K172*	probably null	Het
Ptchd4	A	T	17: 42,316,713	R22*	probably null	Het
Ptpru	C	T	4: 131,803,030	G560S	probably damaging	Het
Ralgapb	G	T	2: 158,435,466	R250L	probably benign	Het
Rcor1	T	A	12: 111,109,794	Y395*	probably null	Het
Slc35f6	G	T	5: 30,648,066		probably benign	Het
Slc40a1	A	G	1: 45,910,969	V441A	probably benign	Het
Slc6a13	T	A	6: 121,318,269	F77Y	probably damaging	Het
Sox10	T	C	15: 79,156,440	Y300C	probably damaging	Het
Tomm70a	T	A	16: 57,138,020		probably benign	Het
Tor4a	A	G	2: 25,195,525	V122A	probably benign	Het
Tpi1	T	C	6: 124,814,175	Q33R	probably benign	Het
Unk	T	C	11: 116,049,358	V179A	probably benign	Het
Ush2a	G	T	1: 188,633,590	G2214C	probably damaging	Het
Vmn1r159	T	A	7: 22,843,487	Y40F	probably benign	Het
Wbp2nl	T	C	15: 82,308,547	V144A	probably benign	Het
Wdpcp	A	G	11: 21,885,040	E681G	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
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
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'- CTGGTCAATGTATACTCTACTGTGAC -3'
(R):5'- TCCTTGAGATGGAATTCACTCC -3'

Sequencing Primer
(F):5'- ACTGTGACTATTGAAAATATGACCC -3'
(R):5'- TCGCACAGACGAGTTTAC -3'

Posted On

2022-03-25