Mutagenetix > Incidental Mutation

Incidental Mutation 'R8940:Slc6a15'

680925

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 #

R8940 (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 103393496 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 132 (V132A)

Ref Sequence

ENSEMBL: ENSMUSP00000136676 (fasta)

Gene Model

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

AlphaFold

Q8BG16

Predicted Effect

probably damaging
Transcript: ENSMUST00000074204
AA Change: V132A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073829
Gene: ENSMUSG00000019894
AA Change: V132A

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: V132A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136676
Gene: ENSMUSG00000019894
AA Change: V132A

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

0.3081

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (73/74)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	T	5: 113,093,202	S1709T	probably benign	Het
Abcc12	A	G	8: 86,560,811	V135A	probably benign	Het
Alkbh3	G	T	2: 94,008,046	P60H	probably damaging	Het
Armc3	A	C	2: 19,235,582	Y50S	probably damaging	Het
Arpc4	T	C	6: 113,385,638	V70A	probably benign	Het
Atp13a4	A	G	16: 29,454,690		probably null	Het
Bco1	A	T	8: 117,130,608	Y438F	probably benign	Het
Cacna1b	C	A	2: 24,763,072		probably benign	Het
Cdh17	C	T	4: 11,783,226	S189L	probably damaging	Het
Cltc	T	C	11: 86,730,246	T312A	probably benign	Het
Crym	T	A	7: 120,195,480	N172I	probably benign	Het
Depdc7	A	G	2: 104,724,568		probably null	Het
Dnhd1	T	A	7: 105,714,647		probably benign	Het
Dntt	T	A	19: 41,058,551		probably benign	Het
Elovl5	T	A	9: 77,982,725	S273T	possibly damaging	Het
Fat2	A	T	11: 55,256,810	L3869M	possibly damaging	Het
Garnl3	T	C	2: 33,005,229		probably null	Het
Gldc	C	T	19: 30,151,484	M196I	probably benign	Het
Gm17078	C	T	14: 51,608,885	V120M	probably damaging	Het
Gm5157	G	A	7: 21,184,760	S286F	probably damaging	Het
Gm6337	C	T	14: 6,055,308	C187Y	probably damaging	Het
Gm9833	A	T	3: 10,088,346	L58F	probably benign	Het
Golgb1	A	G	16: 36,916,397	D2002G	probably damaging	Het
Gpr179	T	C	11: 97,337,849	N1160S	probably damaging	Het
Gulo	A	G	14: 65,997,591	V227A	probably benign	Het
Hlcs	G	A	16: 94,231,226	A31V	probably benign	Het
Hs1bp3	T	C	12: 8,341,980	S361P	probably benign	Het
Ifi44	G	A	3: 151,749,309	P93L	probably benign	Het
Izumo2	T	A	7: 44,713,046	M78K	probably benign	Het
Lin54	T	C	5: 100,446,671	E545G	probably damaging	Het
Map3k13	A	T	16: 21,908,704	I439F	possibly damaging	Het
Matr3	T	G	18: 35,572,587	S188R	probably damaging	Het
Mug1	A	T	6: 121,881,683	H1120L		Het
Ndst4	A	G	3: 125,681,153		probably benign	Het
Nlrp3	G	A	11: 59,565,044	V889M	probably benign	Het
Olfr1030	A	T	2: 85,984,199	M120L	probably benign	Het
Olfr1375	A	G	11: 51,048,628	I174V	probably benign	Het
Olfr456	A	G	6: 42,486,278	M305T	probably benign	Het
Olfr985	T	A	9: 40,127,184	Y259F	probably damaging	Het
Olfr998	A	G	2: 85,591,184	I215V	probably benign	Het
P4hb	A	T	11: 120,568,002	D182E	probably benign	Het
Pcdh10	A	G	3: 45,384,185	T926A	possibly damaging	Het
Pikfyve	T	C	1: 65,246,970	S1078P	probably benign	Het
Plcl2	A	T	17: 50,608,762	D933V	probably damaging	Het
Pramel7	G	A	2: 87,491,268	T141I	probably benign	Het
Prepl	A	T	17: 85,068,926	C567S	probably damaging	Het
Prpsap1	A	T	11: 116,479,789	M114K	probably damaging	Het
Ptk2b	A	C	14: 66,170,236		probably null	Het
Rest	T	C	5: 77,282,868	F1045L	possibly damaging	Het
Rnf19a	A	G	15: 36,260,138	C254R	probably damaging	Het
Rrad	C	T	8: 104,628,590	R262Q	possibly damaging	Het
Rsf1	GGCG	GGCGACTGCCGCG	7: 97,579,906		probably benign	Het
Setdb1	T	A	3: 95,356,172	M8L	probably benign	Het
Setdb2	A	G	14: 59,409,507	S536P	probably damaging	Het
Sipa1l1	T	C	12: 82,357,266	L511P	probably damaging	Het
Slc12a9	T	A	5: 137,328,493	H234L	probably benign	Het
Slc35e2	G	T	4: 155,610,085	G30W	probably damaging	Het
Slc7a10	A	G	7: 35,200,450	T486A	probably benign	Het
Smc5	T	C	19: 23,259,762	Y235C	probably benign	Het
Sorcs3	T	C	19: 48,796,469		probably null	Het
Spata21	T	C	4: 141,104,905	L459P	probably damaging	Het
Tbc1d9	A	G	8: 83,254,823	I706M	probably damaging	Het
Tcp11	T	A	17: 28,080,230	E17V	probably damaging	Het
Tiparp	A	G	3: 65,531,878	D23G	probably benign	Het
Tmem108	A	G	9: 103,499,957	S98P	possibly damaging	Het
Tmem35b	A	G	4: 127,127,880	D56G	probably damaging	Het
Tnr	G	C	1: 159,858,297	G366A	probably damaging	Het
Ttc3	A	G	16: 94,429,499	S852G	possibly damaging	Het
Ttn	G	A	2: 76,766,594	L19992F	probably damaging	Het
Ush2a	T	A	1: 188,400,308	M909K	probably benign	Het
Wdr90	G	A	17: 25,857,172	R104C		Het
Wif1	A	G	10: 121,099,779	H333R	probably benign	Het
Zfp119a	A	G	17: 55,865,551	C431R	probably damaging	Het
Zfp345	G	A	2: 150,472,357	P420L	probably benign	Het
Zfp608	C	T	18: 54,900,229	D411N	possibly damaging	Het
Zfp609	C	T	9: 65,703,279	A801T	possibly damaging	Het
Zfp74	A	G	7: 29,935,347	V312A	possibly 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
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
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'- TCCTAGAGCAGTCTAATACAGGATTC -3'
(R):5'- GTAAGTGCTCTATGTCCAAAAGC -3'

Sequencing Primer
(F):5'- AGGTCAGTTATGTTTTCTTCAAAGAC -3'
(R):5'- GCTTCTAAAACATGATCGCACAG -3'

Posted On

2021-08-31