Mutagenetix > Incidental Mutation

Incidental Mutation 'R1867:Slc6a17'

208806

Institutional Source

Beutler Lab

Gene Symbol

Slc6a17

Ensembl Gene

ENSMUSG00000027894

Gene Name

solute carrier family 6 (neurotransmitter transporter), member 17

Synonyms

NTT4, D130012J15Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.256) question?

Stock #

R1867 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107374864-107425334 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107379492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 559 (M559L)

Ref Sequence

ENSEMBL: ENSMUSP00000129379 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029499] [ENSMUST00000168211] [ENSMUST00000169449]

AlphaFold

Q8BJI1

Predicted Effect

probably damaging
Transcript: ENSMUST00000029499
AA Change: M556L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029499
Gene: ENSMUSG00000027894
AA Change: M556L

Domain	Start	End	E-Value	Type
Pfam:SNF	60	640	2.7e-227	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000168211
AA Change: M518L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131888
Gene: ENSMUSG00000027894
AA Change: M518L

Domain	Start	End	E-Value	Type
Pfam:SNF	19	602	1.3e-225	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000169449
AA Change: M559L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129379
Gene: ENSMUSG00000027894
AA Change: M559L

Domain	Start	End	E-Value	Type
Pfam:SNF	60	643	1.1e-225	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171029

Meta Mutation Damage Score

0.3921

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the SLC6 family of transporters, which are responsible for the presynaptic uptake of most neurotransmitters. The encoded vesicular transporter is selective for proline, glycine, leucine and alanine. Defects in this gene are a cause of autosomal recessive mental retardation-48. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	T	5: 66,157,560 (GRCm39)	M1K	probably null	Het
Abca4	T	A	3: 121,899,010 (GRCm39)	I664N	probably damaging	Het
Acin1	T	C	14: 54,881,718 (GRCm39)	D335G	probably damaging	Het
Acoxl	A	G	2: 127,719,707 (GRCm39)	Y156C	probably damaging	Het
Adamts20	A	G	15: 94,236,340 (GRCm39)	F844L	probably benign	Het
Ago1	A	G	4: 126,335,029 (GRCm39)	Y398H	probably damaging	Het
Aldob	A	G	4: 49,543,835 (GRCm39)	V49A	possibly damaging	Het
Arhgap18	A	G	10: 26,722,026 (GRCm39)	E71G	probably damaging	Het
Asb12	G	T	X: 94,513,950 (GRCm39)	H307N	probably damaging	Het
Atp2b1	T	C	10: 98,832,750 (GRCm39)	V417A	probably damaging	Het
AY358078	T	C	14: 52,037,504 (GRCm39)	M1T	probably null	Het
Bcl2l15	A	G	3: 103,745,914 (GRCm39)		probably null	Het
Brpf3	A	G	17: 29,026,342 (GRCm39)	M472V	probably benign	Het
Bsn	A	G	9: 107,983,918 (GRCm39)	S3379P	unknown	Het
Cap2	T	C	13: 46,793,555 (GRCm39)	V333A	probably damaging	Het
Cd207	T	A	6: 83,652,635 (GRCm39)	D165V	probably damaging	Het
Cfap210	A	T	2: 69,612,181 (GRCm39)		probably null	Het
Cmtr1	A	G	17: 29,893,148 (GRCm39)	T496A	probably benign	Het
Col14a1	T	A	15: 55,310,858 (GRCm39)		probably benign	Het
Cstb	A	G	10: 78,263,273 (GRCm39)	*99W	probably null	Het
Cstdc6	T	G	16: 36,142,148 (GRCm39)	D76A	possibly damaging	Het
Ddx11	G	A	17: 66,442,934 (GRCm39)		probably null	Het
Dip2c	T	C	13: 9,671,985 (GRCm39)	M990T	possibly damaging	Het
Epc2	A	G	2: 49,422,117 (GRCm39)	Y337C	probably damaging	Het
Fmn1	A	G	2: 113,539,783 (GRCm39)	E1326G	probably damaging	Het
Focad	A	T	4: 88,096,326 (GRCm39)	D236V	probably damaging	Het
Fsd1	G	A	17: 56,298,254 (GRCm39)	S193N	probably benign	Het
Gm4922	T	A	10: 18,660,211 (GRCm39)	R170S	possibly damaging	Het
Gm5129	T	C	5: 29,940,654 (GRCm39)		probably benign	Het
Gucy2d	T	A	7: 98,103,268 (GRCm39)	L504H	probably damaging	Het
Hspbap1	A	T	16: 35,621,934 (GRCm39)	Y93F	possibly damaging	Het
Iars2	A	T	1: 185,050,765 (GRCm39)	D441E	probably benign	Het
Il1rap	A	T	16: 26,541,676 (GRCm39)	H639L	probably damaging	Het
Inhbc	A	T	10: 127,193,416 (GRCm39)	V200E	probably benign	Het
Ints8	C	A	4: 11,241,684 (GRCm39)	C253F	probably damaging	Het
Intu	G	T	3: 40,618,765 (GRCm39)	G257V	probably damaging	Het
Kif23	C	A	9: 61,826,243 (GRCm39)	A929S	possibly damaging	Het
Kmt2b	A	T	7: 30,274,083 (GRCm39)	V2207E	possibly damaging	Het
Ksr2	A	C	5: 117,643,594 (GRCm39)	E121A	probably benign	Het
Lce1b	A	G	3: 92,563,318 (GRCm39)	S72P	unknown	Het
Lpl	TGG	TG	8: 69,349,254 (GRCm39)		probably null	Het
Mcmdc2	T	C	1: 10,001,030 (GRCm39)	V435A	probably damaging	Het
Mecom	A	G	3: 30,563,577 (GRCm39)		probably null	Het
Mier2	A	G	10: 79,384,664 (GRCm39)	V150A	probably damaging	Het
Mmp16	A	T	4: 18,116,013 (GRCm39)	D539V	probably benign	Het
Mpp1	A	G	X: 74,168,975 (GRCm39)		probably null	Het
Mpp2	C	T	11: 101,955,493 (GRCm39)	E86K	probably benign	Het
Mtor	T	A	4: 148,539,089 (GRCm39)	F195L	probably damaging	Het
Myo3a	T	C	2: 22,404,657 (GRCm39)	I663T	probably benign	Het
Nlrp5	G	A	7: 23,123,407 (GRCm39)	G756E	possibly damaging	Het
Nudt18	T	C	14: 70,817,335 (GRCm39)	L255P	probably damaging	Het
Nup62	T	A	7: 44,478,472 (GRCm39)	S162R	possibly damaging	Het
Oosp2	C	T	19: 11,626,959 (GRCm39)		probably null	Het
Or52n20	T	A	7: 104,320,524 (GRCm39)	I205N	possibly damaging	Het
Or6c66	A	T	10: 129,461,621 (GRCm39)	I103K	probably damaging	Het
Or7g20	G	A	9: 18,946,562 (GRCm39)	A48T	probably benign	Het
Or8h7	A	G	2: 86,720,956 (GRCm39)	S188P	probably damaging	Het
Pan2	A	G	10: 128,149,050 (GRCm39)	D506G	probably damaging	Het
Pcdh9	G	A	14: 94,125,471 (GRCm39)	S233L	probably damaging	Het
Pcdhgc5	T	G	18: 37,954,471 (GRCm39)	S582A	possibly damaging	Het
Pdik1l	T	C	4: 134,006,222 (GRCm39)	D70G	probably damaging	Het
Peg12	T	C	7: 62,113,416 (GRCm39)	H227R	probably benign	Het
Pms1	C	T	1: 53,228,546 (GRCm39)	V901I	probably benign	Het
Pnisr	C	T	4: 21,874,086 (GRCm39)		probably benign	Het
Pole	A	G	5: 110,482,063 (GRCm39)	E135G	probably benign	Het
Ppp6r2	C	A	15: 89,166,141 (GRCm39)	A715E	probably benign	Het
Prickle4	T	G	17: 48,001,044 (GRCm39)	H174P	possibly damaging	Het
Prl2a1	T	C	13: 27,988,923 (GRCm39)	L16P	probably damaging	Het
Prss32	C	T	17: 24,072,868 (GRCm39)	T33M	probably benign	Het
Psmd13	C	T	7: 140,463,430 (GRCm39)	T38I	probably damaging	Het
Rai14	C	A	15: 10,633,314 (GRCm39)	Q25H	probably damaging	Het
Rbbp6	T	C	7: 122,596,252 (GRCm39)	V598A	probably damaging	Het
Rbm34	C	A	8: 127,697,631 (GRCm39)	A27S	probably benign	Het
Rbm4b	A	G	19: 4,812,331 (GRCm39)	T247A	probably benign	Het
Riiad1	G	A	3: 94,380,176 (GRCm39)	P40S	possibly damaging	Het
Sema4f	T	C	6: 82,894,824 (GRCm39)	D457G	possibly damaging	Het
Sema6c	A	T	3: 95,078,099 (GRCm39)	I492F	probably damaging	Het
Serpina3a	A	T	12: 104,084,886 (GRCm39)	I94L	probably benign	Het
Skida1	TTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTG	2: 18,051,155 (GRCm39)		probably benign	Het
Slc38a1	G	A	15: 96,485,016 (GRCm39)	T221M	probably damaging	Het
Sntg2	T	C	12: 30,286,650 (GRCm39)	N315D	probably benign	Het
Snx10	T	A	6: 51,552,890 (GRCm39)	V11E	probably damaging	Het
Spta1	A	G	1: 174,047,405 (GRCm39)	E1683G	probably benign	Het
Ssc5d	A	T	7: 4,931,506 (GRCm39)	R238W	probably damaging	Het
Ssh1	A	T	5: 114,081,512 (GRCm39)	F617L	probably damaging	Het
Taf1	T	G	X: 100,606,563 (GRCm39)	M1254R	probably damaging	Het
Tcirg1	A	G	19: 3,948,835 (GRCm39)	L450P	probably damaging	Het
Ticam1	C	A	17: 56,578,718 (GRCm39)	A126S	probably benign	Het
Tnxb	T	A	17: 34,890,821 (GRCm39)	V388E	probably damaging	Het
Tomm5	A	G	4: 45,107,939 (GRCm39)	L32P	probably damaging	Het
Ubr5	A	T	15: 38,042,090 (GRCm39)	S169T	probably benign	Het
Usp28	T	G	9: 48,920,494 (GRCm39)	D240E	probably benign	Het
Usp34	T	C	11: 23,311,593 (GRCm39)	Y462H	possibly damaging	Het
Utp14b	C	A	1: 78,643,148 (GRCm39)	Q349K	probably damaging	Het
Utp20	G	T	10: 88,585,305 (GRCm39)	D2586E	probably benign	Het
Vmn1r173	A	G	7: 23,402,660 (GRCm39)	I298M	unknown	Het
Vmn1r37	T	A	6: 66,708,461 (GRCm39)	I29K	probably benign	Het
Vmn2r23	G	A	6: 123,679,874 (GRCm39)	G32D	probably damaging	Het
Xpo7	A	T	14: 70,931,431 (GRCm39)	F296I	probably damaging	Het
Zfhx4	A	G	3: 5,477,774 (GRCm39)	E3463G	probably damaging	Het
Zfp455	G	T	13: 67,355,509 (GRCm39)	R194L	probably benign	Het
Zfp663	T	C	2: 165,194,651 (GRCm39)	T523A	possibly damaging	Het

Other mutations in Slc6a17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02432:Slc6a17	APN	3	107,400,493 (GRCm39)	missense	possibly damaging	0.56
IGL02514:Slc6a17	APN	3	107,402,993 (GRCm39)	missense	possibly damaging	0.94
IGL03395:Slc6a17	APN	3	107,384,622 (GRCm39)	missense	probably damaging	1.00
BB002:Slc6a17	UTSW	3	107,403,056 (GRCm39)	missense	probably damaging	1.00
BB012:Slc6a17	UTSW	3	107,403,056 (GRCm39)	missense	probably damaging	1.00
R0454:Slc6a17	UTSW	3	107,384,183 (GRCm39)	missense	probably benign	0.12
R1201:Slc6a17	UTSW	3	107,400,388 (GRCm39)	missense	possibly damaging	0.90
R1551:Slc6a17	UTSW	3	107,379,443 (GRCm39)	missense	possibly damaging	0.85
R1681:Slc6a17	UTSW	3	107,381,702 (GRCm39)	missense	probably damaging	1.00
R1721:Slc6a17	UTSW	3	107,379,492 (GRCm39)	missense	probably damaging	1.00
R1765:Slc6a17	UTSW	3	107,380,895 (GRCm39)	missense	possibly damaging	0.95
R2167:Slc6a17	UTSW	3	107,398,817 (GRCm39)	nonsense	probably null
R3708:Slc6a17	UTSW	3	107,400,401 (GRCm39)	missense	probably benign
R3814:Slc6a17	UTSW	3	107,378,633 (GRCm39)	missense	possibly damaging	0.92
R4639:Slc6a17	UTSW	3	107,381,597 (GRCm39)	missense	probably benign
R4807:Slc6a17	UTSW	3	107,407,803 (GRCm39)	missense	possibly damaging	0.90
R5048:Slc6a17	UTSW	3	107,378,753 (GRCm39)	nonsense	probably null
R6076:Slc6a17	UTSW	3	107,379,387 (GRCm39)	missense	possibly damaging	0.67
R6326:Slc6a17	UTSW	3	107,407,722 (GRCm39)	missense	probably damaging	0.98
R6713:Slc6a17	UTSW	3	107,378,703 (GRCm39)	missense	probably benign	0.00
R7073:Slc6a17	UTSW	3	107,378,755 (GRCm39)	missense	probably benign	0.00
R7097:Slc6a17	UTSW	3	107,400,464 (GRCm39)	missense	probably damaging	1.00
R7323:Slc6a17	UTSW	3	107,398,794 (GRCm39)	missense	probably benign	0.01
R7597:Slc6a17	UTSW	3	107,378,668 (GRCm39)	missense	possibly damaging	0.89
R7755:Slc6a17	UTSW	3	107,381,671 (GRCm39)	missense	probably damaging	1.00
R7841:Slc6a17	UTSW	3	107,384,214 (GRCm39)	missense	possibly damaging	0.69
R7925:Slc6a17	UTSW	3	107,403,056 (GRCm39)	missense	probably damaging	1.00
R8041:Slc6a17	UTSW	3	107,381,744 (GRCm39)	missense	probably damaging	1.00
R8305:Slc6a17	UTSW	3	107,380,901 (GRCm39)	missense	probably benign	0.31
R8306:Slc6a17	UTSW	3	107,380,985 (GRCm39)	missense	probably benign
R8488:Slc6a17	UTSW	3	107,384,574 (GRCm39)	missense	possibly damaging	0.84
R8930:Slc6a17	UTSW	3	107,379,507 (GRCm39)	missense	probably benign	0.19
R8932:Slc6a17	UTSW	3	107,379,507 (GRCm39)	missense	probably benign	0.19
R9287:Slc6a17	UTSW	3	107,384,551 (GRCm39)	missense	probably damaging	1.00
R9483:Slc6a17	UTSW	3	107,378,772 (GRCm39)	missense	possibly damaging	0.50
R9601:Slc6a17	UTSW	3	107,380,930 (GRCm39)	missense	possibly damaging	0.95
R9617:Slc6a17	UTSW	3	107,384,685 (GRCm39)	missense	probably damaging	1.00
X0010:Slc6a17	UTSW	3	107,400,422 (GRCm39)	missense	probably benign	0.05
X0062:Slc6a17	UTSW	3	107,407,684 (GRCm39)	missense	probably null	1.00
Z1176:Slc6a17	UTSW	3	107,384,082 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCTGAGAAGATGCCAGAGAC -3'
(R):5'- AGGGCCTGTCTAATGGATCG -3'

Sequencing Primer
(F):5'- CAGAGACTCTGGGGTTTGTTG -3'
(R):5'- GGCCTGTCTAATGGATCGTATCTC -3'

Posted On

2014-06-30