Mutagenetix > Incidental Mutation

Incidental Mutation 'R9483:Slc6a17'

716347

Institutional Source

Beutler Lab

Gene Symbol

Slc6a17

Ensembl Gene

ENSMUSG00000027894

Gene Name

solute carrier family 6 (neurotransmitter transporter), member 17

Synonyms

NTT4, D130012J15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.334) question?

Stock #

R9483 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107374864-107425334 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107378772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 637 (I637F)

Ref Sequence

ENSEMBL: ENSMUSP00000129379 (fasta)

Gene Model

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

AlphaFold

Q8BJI1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029499
AA Change: I634F

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029499
Gene: ENSMUSG00000027894
AA Change: I634F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168211
AA Change: I596F

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131888
Gene: ENSMUSG00000027894
AA Change: I596F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169449
AA Change: I637F

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000129379
Gene: ENSMUSG00000027894
AA Change: I637F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	T	5: 113,339,010 (GRCm39)	M334K	probably benign	Het
Abca1	A	T	4: 53,060,351 (GRCm39)	I1525N	probably benign	Het
Abca4	A	T	3: 121,879,275 (GRCm39)	I398F		Het
Acbd3	A	G	1: 180,572,721 (GRCm39)	D327G	probably benign	Het
Acsm3	A	G	7: 119,383,166 (GRCm39)	T544A	probably damaging	Het
Atp11a	C	T	8: 12,901,087 (GRCm39)	T972M	probably damaging	Het
Cbfb	C	T	8: 105,929,123 (GRCm39)	R147*	probably null	Het
Ccdc17	G	T	4: 116,454,144 (GRCm39)	R54L	probably benign	Het
Cracdl	T	G	1: 37,670,496 (GRCm39)	E148A	probably damaging	Het
Cuedc2	G	T	19: 46,319,399 (GRCm39)	A223E	probably benign	Het
Cul5	T	C	9: 53,532,474 (GRCm39)	I787V	probably benign	Het
D430041D05Rik	T	A	2: 104,087,563 (GRCm39)	H471L	probably benign	Het
Ddx39a	T	C	8: 84,448,916 (GRCm39)	Y264H	probably benign	Het
Dlgap3	C	A	4: 127,127,665 (GRCm39)	R778S	probably damaging	Het
Esrrg	T	C	1: 187,930,848 (GRCm39)	V313A	probably damaging	Het
Fam124a	T	C	14: 62,844,100 (GRCm39)	I536T	probably damaging	Het
Fbxo21	T	C	5: 118,127,272 (GRCm39)	F275L	possibly damaging	Het
Gabrg1	C	A	5: 70,999,558 (GRCm39)	G2V	possibly damaging	Het
Gcc1	G	T	6: 28,418,089 (GRCm39)	A748D	probably damaging	Het
Gjb6	T	C	14: 57,361,511 (GRCm39)	D250G	probably benign	Het
Gm44501	A	T	17: 40,889,872 (GRCm39)	K129*	probably null	Het
Hmcn2	T	G	2: 31,320,375 (GRCm39)	L3952R		Het
Hpd	A	G	5: 123,312,535 (GRCm39)	I278T	probably damaging	Het
Igsf3	T	A	3: 101,346,904 (GRCm39)	F613Y	probably damaging	Het
Igsf3	T	C	3: 101,346,817 (GRCm39)	F584S	probably damaging	Het
Ik	A	G	18: 36,886,635 (GRCm39)	D369G	probably benign	Het
Ikbke	A	G	1: 131,198,719 (GRCm39)	L365P	probably damaging	Het
Il22ra2	A	T	10: 19,508,542 (GRCm39)	Q190L	possibly damaging	Het
Itga6	T	C	2: 71,679,834 (GRCm39)	V1033A	probably benign	Het
Kif18a	T	C	2: 109,120,032 (GRCm39)	Y112H	probably damaging	Het
Krt75	T	C	15: 101,482,238 (GRCm39)	H10R	probably benign	Het
L3mbtl1	T	A	2: 162,790,734 (GRCm39)	L93H	probably benign	Het
Lrfn1	G	A	7: 28,158,183 (GRCm39)	C34Y	probably damaging	Het
Lrrc47	A	T	4: 154,101,920 (GRCm39)	I396F	probably damaging	Het
Mgat3	T	A	15: 80,095,641 (GRCm39)	V156E	probably benign	Het
Mtus2	A	G	5: 148,232,300 (GRCm39)	D1120G	possibly damaging	Het
Muc5ac	G	T	7: 141,365,465 (GRCm39)	E2700*	probably null	Het
Nxpe5	A	T	5: 138,228,591 (GRCm39)		probably benign	Het
Or51v15-ps1	T	C	7: 103,278,931 (GRCm39)	T79A	probably damaging	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Pcdhga4	T	A	18: 37,819,746 (GRCm39)	S432T	possibly damaging	Het
Pdk4	T	A	6: 5,486,716 (GRCm39)	M353L	probably benign	Het
Ppp1r13b	T	A	12: 111,800,210 (GRCm39)	K645N	probably benign	Het
Ppt1	A	T	4: 122,751,367 (GRCm39)	D288V	possibly damaging	Het
Prkcb	A	G	7: 122,181,663 (GRCm39)	Y417C	probably damaging	Het
Prss22	A	G	17: 24,215,721 (GRCm39)	I67T	probably damaging	Het
Rab29	T	C	1: 131,795,508 (GRCm39)	V40A	possibly damaging	Het
Rae1	T	C	2: 172,849,941 (GRCm39)		probably null	Het
Rasa3	C	T	8: 13,630,033 (GRCm39)		probably null	Het
Rasgrp3	A	G	17: 75,807,717 (GRCm39)	D258G	probably benign	Het
Rcc1	T	A	4: 132,062,808 (GRCm39)	T208S	probably benign	Het
Rgs3	C	A	4: 62,575,354 (GRCm39)	Y580*	probably null	Het
Rpe65	C	T	3: 159,328,318 (GRCm39)	P405S	probably damaging	Het
Rsf1	GGCGGC	GGCGGCGGCAGCGGC	7: 97,229,137 (GRCm39)		probably benign	Het
Rsph4a	A	G	10: 33,790,418 (GRCm39)	E669G	probably damaging	Het
Rusc1	A	T	3: 88,994,113 (GRCm39)	V964E	probably benign	Het
Rusc2	A	G	4: 43,415,897 (GRCm39)	N401S	probably damaging	Het
Slc10a1	G	T	12: 81,002,864 (GRCm39)	T258K	probably damaging	Het
Slc5a9	A	G	4: 111,747,418 (GRCm39)	L323P	probably damaging	Het
Slc8a2	A	G	7: 15,886,780 (GRCm39)	E641G	possibly damaging	Het
Sptbn2	G	T	19: 4,789,974 (GRCm39)	A1321S	probably damaging	Het
Ssh2	G	T	11: 77,283,976 (GRCm39)	A77S	possibly damaging	Het
St13	G	T	15: 81,250,587 (GRCm39)	N316K	probably damaging	Het
Taf10	A	G	7: 105,393,062 (GRCm39)	M121T	probably benign	Het
Tcta	T	C	9: 108,182,942 (GRCm39)	T68A	probably damaging	Het
Timd2	A	T	11: 46,577,889 (GRCm39)	Y81N	probably damaging	Het
Tln2	T	C	9: 67,299,769 (GRCm39)	E161G	probably damaging	Het
Tmed10	T	C	12: 85,397,621 (GRCm39)	I123V	probably benign	Het
Ttf1	T	C	2: 28,969,492 (GRCm39)		probably null	Het
Tubg1	A	G	11: 101,016,886 (GRCm39)	D396G	probably damaging	Het
Uhmk1	A	G	1: 170,034,913 (GRCm39)		probably null	Het
Unc13a	C	T	8: 72,103,221 (GRCm39)	A922T	probably benign	Het
Usp24	T	A	4: 106,219,379 (GRCm39)	V525E	probably damaging	Het
Usp28	C	A	9: 48,947,037 (GRCm39)	Q823K	probably damaging	Het
Vldlr	A	T	19: 27,224,031 (GRCm39)	I764F	probably benign	Het
Vmn2r88	T	C	14: 51,648,641 (GRCm39)	Y62H		Het
Zfp423	T	A	8: 88,507,725 (GRCm39)	N873I	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
R1867:Slc6a17	UTSW	3	107,379,492 (GRCm39)	missense	probably damaging	1.00
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
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'- ATCCAAGGGTGATGTGCTGC -3'
(R):5'- ATCAGTACTGCTACTTGGTGG -3'

Sequencing Primer
(F):5'- GTGATGTGCTGCCAGGC -3'
(R):5'- AGTACTGCTACTTGGTGGTGGTG -3'

Posted On

2022-07-18