Mutagenetix > Incidental Mutation

Incidental Mutation 'R8379:Slc6a15'

646873

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 #

R8379 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103367783-103419377 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103389187 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 45 (E45D)

Ref Sequence

ENSEMBL: ENSMUSP00000073829 (fasta)

Gene Model

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

AlphaFold

Q8BG16

Predicted Effect

probably benign
Transcript: ENSMUST00000074204
AA Change: E45D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000073829
Gene: ENSMUSG00000019894
AA Change: E45D

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: ENSMUST00000179636
AA Change: E45D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000136676
Gene: ENSMUSG00000019894
AA Change: E45D

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
AA Change: E45D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (61/62)

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
Aipl1	T	C	11: 72,029,300	D314G	probably benign	Het
Ankrd12	T	G	17: 65,983,944	E1498A	probably benign	Het
Appl1	A	T	14: 26,925,415		probably null	Het
Auh	A	G	13: 52,909,313	*116R	probably null	Het
Ccdc7a	T	A	8: 128,964,936	H402L	probably benign	Het
Ccr4	T	C	9: 114,492,167	T277A	probably benign	Het
Col18a1	C	T	10: 77,053,238	V1302I	probably benign	Het
Csnk1a1	T	C	18: 61,555,854	I35T	probably benign	Het
Csnk1e	T	C	15: 79,420,682	R374G	possibly damaging	Het
Ddx11	A	G	17: 66,130,025	R105G	probably benign	Het
Denr	C	A	5: 123,927,061	T159K	possibly damaging	Het
Dmp1	C	A	5: 104,211,705	Y82*	probably null	Het
Dok3	A	G	13: 55,524,020	V246A	probably benign	Het
Endov	A	C	11: 119,491,897	K57Q	possibly damaging	Het
Fam160a2	T	C	7: 105,385,135	N430D	possibly damaging	Het
Fam83a	A	G	15: 58,009,800	T342A	probably benign	Het
Fbln1	G	A	15: 85,232,572	C275Y	probably damaging	Het
Foxi1	A	G	11: 34,207,530	I165T	possibly damaging	Het
Gm14496	A	T	2: 182,000,482	I649F	probably damaging	Het
Gm9268	C	T	7: 43,047,846	P776S	probably damaging	Het
Grin2b	A	G	6: 135,922,969	S305P	probably damaging	Het
Grm1	G	A	10: 10,689,135	T1143M	possibly damaging	Het
Ifi202b	C	A	1: 173,974,732		probably null	Het
Klhl32	A	T	4: 24,629,194	D491E	probably damaging	Het
Klk1b1	C	T	7: 43,970,343	R109C	possibly damaging	Het
Krt13	A	G	11: 100,118,880	L358P	probably damaging	Het
Limk2	G	A	11: 3,371,162		probably benign	Het
Mdn1	A	G	4: 32,756,453	D4720G	probably null	Het
Mkln1	T	A	6: 31,458,965	Y286*	probably null	Het
Muc6	C	A	7: 141,644,312	E1143*	probably null	Het
Myh15	A	G	16: 49,081,188	I242M	probably benign	Het
Noc4l	T	G	5: 110,650,962	K241Q	probably damaging	Het
Nup88	C	A	11: 70,969,781	L57F	possibly damaging	Het
Obsl1	G	T	1: 75,503,857	F374L	possibly damaging	Het
Olfr612	A	G	7: 103,538,976	I86T	possibly damaging	Het
Orm1	A	T	4: 63,346,118	D137V	probably damaging	Het
Osbpl2	T	A	2: 180,137,102	D9E	probably damaging	Het
P4ha3	G	T	7: 100,293,779	D124Y	probably damaging	Het
Poteg	T	C	8: 27,453,326	V208A	probably benign	Het
Ppfibp1	A	G	6: 147,030,345	D963G	probably damaging	Het
Prdx6	G	T	1: 161,251,090	D9E	probably benign	Het
Prrc2b	C	A	2: 32,214,654	N1381K	probably damaging	Het
Ptpn14	T	A	1: 189,833,401	V222E	possibly damaging	Het
Rasal1	C	T	5: 120,666,355	R431C	probably benign	Het
Rexo5	A	T	7: 119,834,285	M422L	probably benign	Het
Rnf17	TG	T	14: 56,424,542	132	probably null	Het
Robo2	A	T	16: 73,933,700	I1008N	probably damaging	Het
Sidt1	T	A	16: 44,286,392	Y225F	probably benign	Het
Spata31d1a	T	G	13: 59,702,854	M487L	probably benign	Het
St6galnac1	C	A	11: 116,775,499		probably benign	Het
Tcp11l2	A	G	10: 84,613,605	Y478C	probably damaging	Het
Tdrd12	G	T	7: 35,524,057	C67*	probably null	Het
Tead2	G	A	7: 45,218,081	G78D	probably damaging	Het
Tfpi2	A	T	6: 3,963,849	N194K	probably damaging	Het
Timd2	A	G	11: 46,677,200		probably null	Het
Tmem270	T	C	5: 134,901,703	T235A	probably benign	Het
Tnrc18	T	C	5: 142,788,402	D224G		Het
Tsga10	G	T	1: 37,801,878	Q416K	probably benign	Het
Ulk1	C	A	5: 110,787,665	L911F	probably damaging	Het
Usp8	T	C	2: 126,742,571	S567P	probably benign	Het
Zdhhc3	A	C	9: 123,089,078	C129G	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCCTCAAGGGTGTCTTTAAG -3'
(R):5'- CCCTAGCTTTGTAATGGAATTCAC -3'

Sequencing Primer
(F):5'- TCCTGTCCAACGAAGACT -3'
(R):5'- ATACAGGATTGCCCTTTACGGAG -3'

Posted On

2020-09-02