Mutagenetix > Incidental Mutation

Incidental Mutation 'RF013:Slc6a15'

603349

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF013 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103367783-103419377 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103400216 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 264 (V264D)

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: V264D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000073829
Gene: ENSMUSG00000019894
AA Change: V264D

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: V264D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000136676
Gene: ENSMUSG00000019894
AA Change: V264D

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: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	A	G	19: 58,789,294	F28S	probably damaging	Het
4930435E12Rik	T	C	16: 38,828,001	T249A	probably benign	Het
4932438A13Rik	TTAT	TTATTATTATTATTAGTAT	3: 37,050,757		probably benign	Het
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,905,096		probably benign	Het
Adamts9	A	G	6: 92,943,145	V4A	possibly damaging	Het
AI837181	GGC	GGCTGC	19: 5,425,232		probably benign	Het
Alk	A	G	17: 71,895,936	Y1135H	probably damaging	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,560,926		probably benign	Het
Ano3	A	C	2: 110,697,036	L609R	probably benign	Het
Bicc1	A	G	10: 70,935,830		probably null	Het
Card6	T	C	15: 5,100,142	I591V	probably benign	Het
Ccdc18	A	G	5: 108,220,716	N1235D	probably benign	Het
Cd109	TTAT	TTATTTATTTATCTAT	9: 78,712,531		probably benign	Het
Cnpy3	CCT	CCTGCT	17: 46,736,744		probably benign	Het
Col6a5	GCAGTC	GCAGTCTCCAGTC	9: 105,878,597		probably null	Het
Cyb5r4	GACACACTGCCCAGGGA	GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA	9: 87,040,432		probably benign	Het
Cyp8b1	A	T	9: 121,915,495	M257K	possibly damaging	Het
Dbf4	A	T	5: 8,397,985	H408Q	possibly damaging	Het
Defb22	TTGCGGCA	TTGCGGCAGAGCTGGCCTGTGCGGCA	2: 152,485,831		probably benign	Het
Ercc6l2	A	T	13: 63,853,017	T417S	probably benign	Het
Exd2	AGCCACAG	A	12: 80,475,932		probably null	Het
Fam171b	GC	GCAGCATC	2: 83,812,895		probably benign	Het
Fam71e1	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA	7: 44,500,520		probably null	Het
Flvcr2	T	A	12: 85,747,186	L112Q	probably damaging	Het
Flywch1	GTG	GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG	17: 23,762,175		probably null	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 72,270,416		probably benign	Het
Gm4884	C	A	7: 41,040,809	P43Q	probably damaging	Het
Gm6588	T	A	5: 112,450,071	N161K	probably benign	Het
Grm8	A	G	6: 27,363,780	W579R	probably damaging	Het
Hsdl2	AG	AGCAGCAGCCACAGCTGCCG	4: 59,610,657		probably benign	Het
Ivl	CTGCTGCTGCTGCTGT	C	3: 92,572,343		probably benign	Het
Kif18b	T	C	11: 102,912,366	D506G	probably benign	Het
Krtap28-10	AGCCAC	AGCCACGGCCAC	1: 83,042,135		probably benign	Het
Krtap28-10	GCCACAGCCACCACA	GCCACAGCCACCACATCCACAGCCACCACA	1: 83,042,274		probably benign	Het
Lama1	C	A	17: 67,781,062	S1558R		Het
Lcmt1	C	CCGCGGGGCTT	7: 123,369,836		probably null	Het
Lmna	A	G	3: 88,484,054	V494A	probably benign	Het
Mapk6	CCAC	CCACCTCAC	9: 75,388,260		probably null	Het
Mboat7	T	A	7: 3,691,857	H52L	probably damaging	Het
Med12l	CAG	CAGAAG	3: 59,275,966		probably benign	Het
Morc2a	T	A	11: 3,676,191	M225K	probably benign	Het
Mpdz	G	A	4: 81,293,592	A1566V	possibly damaging	Het
Mpi	T	C	9: 57,548,641	D186G	probably benign	Het
Mtmr12	C	A	15: 12,261,898	N386K	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 67,086,356		probably null	Het
Myo10	T	A	15: 25,799,479	M1376K	probably damaging	Het
Nbas	C	T	12: 13,279,408	T118I	possibly damaging	Het
Nedd4l	C	T	18: 65,209,680	R755C	probably damaging	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,941,032		probably benign	Het
Numa1	T	C	7: 101,999,780	L906P	probably damaging	Het
Olfr750	G	A	14: 51,071,012	A127V	probably damaging	Het
Olfr871	T	C	9: 20,212,894	S182P	probably benign	Het
Otop2	G	T	11: 115,323,666	R83L	probably benign	Het
Pmm1	T	A	15: 81,957,813	Q62L	probably damaging	Het
Pramef25	C	G	4: 143,948,908	Q449H	probably damaging	Het
Ptprj	A	T	2: 90,471,170	L206*	probably null	Het
Rassf6	TC	TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC	5: 90,608,941		probably benign	Het
Rps19	A	AGAAAAT	7: 24,889,180		probably benign	Het
Rsrp1	T	A	4: 134,923,955	V10E	unknown	Het
Sh2d6	C	T	6: 72,516,388		probably null	Het
Six4	TG	T	12: 73,103,582		probably null	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,182,211		probably benign	Het
Sost	A	T	11: 101,964,132	I117N	probably damaging	Het
Tbc1d22a	AGGTGTGTG	A	15: 86,299,774		probably null	Het
Tcaf1	C	T	6: 42,679,173	V290I	probably benign	Het
Tcof1	GCA	GCACCA	18: 60,835,743		probably benign	Het
Tgfbr1	A	G	4: 47,353,354	I15V	unknown	Het
Tmem241	A	T	18: 11,983,561	L288Q	probably damaging	Het
Tnfrsf13b	T	G	11: 61,141,444	V100G	probably benign	Het
Trim66	A	G	7: 109,460,753	S809P	probably damaging	Het
Tubb4a	C	G	17: 57,087,464	G17A	possibly damaging	Het
Txndc16	A	G	14: 45,169,338	V220A	probably benign	Het
Zan	T	A	5: 137,391,720	Q4830L	unknown	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
R9532:Slc6a15	UTSW	10	103404472	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTCAAGTGAGATTTAAAGAAGGCTG -3'
(R):5'- AACCCACTTTTCTGGAGAGG -3'

Sequencing Primer
(F):5'- GGCTGAATCCAGAACAGTCTTC -3'
(R):5'- CCACTTTTCTGGAGAGGTTAATATAC -3'

Posted On

2019-12-04