Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02066:Slc6a15'

283324

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02066

Quality Score

Status

Chromosome

Chromosomal Location

103367783-103419377 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103416658 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 561 (L561I)

Ref Sequence

ENSEMBL: ENSMUSP00000136676 (fasta)

Gene Model

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

AlphaFold

Q8BG16

Predicted Effect

probably damaging
Transcript: ENSMUST00000074204
AA Change: L561I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073829
Gene: ENSMUSG00000019894
AA Change: L561I

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: L561I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136676
Gene: ENSMUSG00000019894
AA Change: L561I

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

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,273,232	R1133H	probably damaging	Het
A2m	T	A	6: 121,649,895	C569S	probably damaging	Het
Adck5	T	C	15: 76,595,206	V487A	probably damaging	Het
Agfg1	A	G	1: 82,893,558	T483A	probably damaging	Het
Akr1c12	T	C	13: 4,276,237	T82A	probably damaging	Het
Ano2	T	A	6: 125,690,739	L6Q	probably benign	Het
Anp32a	G	A	9: 62,377,333		probably benign	Het
Cep250	C	A	2: 155,976,521	A871D	probably damaging	Het
Chl1	T	C	6: 103,698,224	V624A	probably benign	Het
Clasp1	G	A	1: 118,565,260		probably null	Het
Clca3a2	T	G	3: 144,813,455	D320A	probably benign	Het
Cnot9	A	G	1: 74,527,053	Q201R	possibly damaging	Het
Cox4i2	C	T	2: 152,760,682	R99C	probably damaging	Het
Csmd1	A	T	8: 15,926,594	F2875I	probably damaging	Het
Dpagt1	A	G	9: 44,331,906	Y246C	probably damaging	Het
Dsc1	A	G	18: 20,108,803		probably benign	Het
Eef1d	G	A	15: 75,896,855	T464I	probably benign	Het
Efna2	C	T	10: 80,188,666		probably benign	Het
Etaa1	C	A	11: 17,946,687	V477L	probably benign	Het
Fam189b	C	T	3: 89,188,596	R545*	probably null	Het
Fam83d	C	T	2: 158,785,873	T494M	probably benign	Het
Fbxo24	C	T	5: 137,612,870	V553M	probably damaging	Het
Gal3st2	A	G	1: 93,873,657	T12A	probably damaging	Het
Gba2	G	A	4: 43,570,175	T373I	probably benign	Het
Kitl	T	A	10: 100,076,882	C154S	probably damaging	Het
Lrp1b	A	T	2: 41,111,079	C2044*	probably null	Het
Lrp6	G	T	6: 134,450,937	S1564*	probably null	Het
Manea	A	T	4: 26,340,965		probably benign	Het
Myt1	T	C	2: 181,797,189	L168P	probably damaging	Het
Notch1	T	C	2: 26,460,396	E2244G	possibly damaging	Het
Nsd3	T	G	8: 25,713,488	V1343G	probably damaging	Het
Nup155	T	C	15: 8,157,766		probably benign	Het
Obox6	T	C	7: 15,834,703	I83V	probably benign	Het
Olfr358	A	T	2: 37,005,309	F102I	probably damaging	Het
Olfr538	A	T	7: 140,574,500	T116S	possibly damaging	Het
Pdgfra	T	C	5: 75,170,580	V282A	possibly damaging	Het
Pkd1l2	A	G	8: 117,009,564		probably benign	Het
Pmfbp1	A	T	8: 109,541,733	I971F	possibly damaging	Het
Ppp6c	T	C	2: 39,199,671	T199A	probably benign	Het
Ptpa	A	G	2: 30,443,296	T3A	possibly damaging	Het
Rb1	A	T	14: 73,198,534	M897K	probably benign	Het
Rptn	A	C	3: 93,397,129	S590R	probably benign	Het
Rreb1	A	G	13: 37,931,506	D947G	probably benign	Het
Samd9l	T	C	6: 3,376,575	T229A	probably damaging	Het
Slc5a9	A	T	4: 111,887,522	M423K	probably damaging	Het
Slc6a12	T	A	6: 121,352,056	I111N	probably damaging	Het
Spag5	A	G	11: 78,304,532	N222D	probably benign	Het
Spp2	G	A	1: 88,417,243	M54I	probably benign	Het
Sptbn4	T	C	7: 27,364,515	E847G	possibly damaging	Het
Timd2	T	A	11: 46,678,223	N203Y	probably damaging	Het
Togaram1	G	T	12: 64,983,421	D1000Y	probably damaging	Het
Usp47	C	T	7: 112,064,397	R258C	probably damaging	Het
Uts2r	A	C	11: 121,160,697	D129A	probably damaging	Het
Vmn2r102	G	A	17: 19,693,929	M585I	probably benign	Het
Vmn2r77	A	T	7: 86,803,628	R518*	probably null	Het
Wdfy4	C	T	14: 33,149,566	R296K	probably benign	Het
Xirp2	A	T	2: 67,526,071	K3725N	probably benign	Het
Xntrpc	T	C	7: 102,077,829	S142P	probably benign	Het
Zfat	T	C	15: 68,180,829	H372R	probably 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
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
R9532:Slc6a15	UTSW	10	103404472	missense	probably damaging	0.98
RF013:Slc6a15	UTSW	10	103400216	missense	probably damaging	1.00

Posted On

2015-04-16