Mutagenetix > Incidental Mutation

Incidental Mutation 'R9532:Slc6a15'

719532

Institutional Source

Beutler Lab

Gene Symbol

Slc6a15

Ensembl Gene

ENSMUSG00000019894

Gene Name

solute carrier family 6 (neurotransmitter transporter), member 15

Synonyms

v7-3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9532 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103367783-103419377 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103404472 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 352 (V352A)

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: V352A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073829
Gene: ENSMUSG00000019894
AA Change: V352A

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: V352A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136676
Gene: ENSMUSG00000019894
AA Change: V352A

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (50/51)

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
1700003H04Rik	T	C	3: 124,556,748	N165S	unknown	Het
9530002B09Rik	C	A	4: 122,702,340	N121K	unknown	Het
Abca1	A	T	4: 53,109,284	N141K	probably benign	Het
Amer1	ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	X: 95,427,283		probably benign	Het
Bco2	T	C	9: 50,546,071	N57S	probably benign	Het
Bnip3l	G	A	14: 67,008,765	P7L	possibly damaging	Het
Cacna1a	T	A	8: 84,611,617	W1709R	probably damaging	Het
Cd3eap	A	T	7: 19,357,892	S97T	possibly damaging	Het
Cep95	A	G	11: 106,796,216	E117G	probably damaging	Het
D17H6S53E	T	A	17: 35,127,169	S19T	possibly damaging	Het
Dab2	G	T	15: 6,422,281	R126L	probably damaging	Het
Diaph3	T	C	14: 86,656,480	D31G	probably damaging	Het
Espl1	T	A	15: 102,319,825	L1678*	probably null	Het
Fam171b	T	C	2: 83,879,868	V628A	probably damaging	Het
Fam71b	A	G	11: 46,406,846	T326A		Het
Fgf8	A	T	19: 45,737,240	V186E	probably damaging	Het
Fmnl2	A	T	2: 53,116,929	Y751F	unknown	Het
Frmpd1	A	T	4: 45,278,886	E537V		Het
Grin1	C	T	2: 25,297,897	G529D	probably damaging	Het
Heatr1	C	T	13: 12,414,425	T872I	possibly damaging	Het
Hectd4	T	C	5: 121,364,553	I4240T	probably benign	Het
Hpd	C	T	5: 123,174,469	R279H	possibly damaging	Het
Hyls1	T	A	9: 35,562,102	Q6L	probably benign	Het
Igfn1	A	T	1: 135,969,491	D1112E	possibly damaging	Het
Ighv1-82	T	G	12: 115,952,538	R117S	probably damaging	Het
Iqch	G	A	9: 63,482,653	A748V		Het
Kcnd2	G	T	6: 21,727,181	A578S	probably benign	Het
Klc2	A	G	19: 5,111,537	V315A	possibly damaging	Het
Klhl20	A	T	1: 161,109,759	D15E	probably benign	Het
Lamb2	G	T	9: 108,488,631	G1445W	probably damaging	Het
Lhx4	T	A	1: 155,710,278	I96F	probably damaging	Het
Lyzl6	T	C	11: 103,631,342	T143A	probably benign	Het
Nup93	G	A	8: 94,314,621	A796T	probably damaging	Het
Nutm2	T	C	13: 50,474,439	V513A	probably benign	Het
Olfr571	A	G	7: 102,909,539	V100A	probably benign	Het
Olfr677	A	T	7: 105,057,068	H274L	probably damaging	Het
Pcdh8	A	G	14: 79,770,766	V119A	possibly damaging	Het
Pkmyt1	T	C	17: 23,735,717	I427T	probably benign	Het
Polr3c	T	C	3: 96,722,550	D222G	probably null	Het
Prickle2	A	T	6: 92,706,115	S11T	probably benign	Het
Prpf8	G	A	11: 75,494,782	A930T	probably benign	Het
Prss40	G	T	1: 34,558,025	H147Q	probably damaging	Het
Prune2	A	T	19: 17,122,430	D1766V	probably benign	Het
Qrich1	C	T	9: 108,534,320	T348M	probably benign	Het
Slc20a1	T	C	2: 129,200,013	Y99H	probably damaging	Het
Ttll3	A	G	6: 113,409,009	Q601R	possibly damaging	Het
Virma	T	C	4: 11,507,078		probably null	Het
Washc4	A	G	10: 83,581,394		probably benign	Het
Zdhhc18	A	T	4: 133,615,230	M191K	possibly damaging	Het
Zfp281	A	G	1: 136,627,156	N624S	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
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
RF013:Slc6a15	UTSW	10	103400216	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGAAATGATGTTGGAGCCC -3'
(R):5'- TGTGATGGGGAATGACATCC -3'

Sequencing Primer
(F):5'- AAATGATGTTGGAGCCCAAGGTTTG -3'
(R):5'- GGAATGACATCCCAACTAATGTTTCC -3'

Posted On

2022-07-18