Mutagenetix > Incidental Mutation

Incidental Mutation 'R8306:Slc6a17'

641051

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

067792-MU

Accession Numbers

Essential gene?

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

Stock #

R8306 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107374864-107425334 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 107380985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 507 (V507L)

Ref Sequence

ENSEMBL: ENSMUSP00000129379 (fasta)

Gene Model

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

AlphaFold

Q8BJI1

Predicted Effect

probably benign
Transcript: ENSMUST00000029499
AA Change: V504L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029499
Gene: ENSMUSG00000027894
AA Change: V504L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000168211
AA Change: V466L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131888
Gene: ENSMUSG00000027894
AA Change: V466L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000169449
AA Change: V507L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129379
Gene: ENSMUSG00000027894
AA Change: V507L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	C	A	11: 101,302,194 (GRCm39)	V158F	probably damaging	Het
Abtb3	T	A	10: 85,434,409 (GRCm39)	C22*	probably null	Het
Adam1b	T	C	5: 121,641,212 (GRCm39)		probably benign	Het
Ambn	G	A	5: 88,607,281 (GRCm39)	E50K	possibly damaging	Het
Ash1l	A	G	3: 88,873,259 (GRCm39)	D14G	probably benign	Het
Asphd1	C	T	7: 126,547,784 (GRCm39)	R173H	probably damaging	Het
Atr	A	T	9: 95,802,423 (GRCm39)	T1772S		Het
Best3	T	C	10: 116,838,515 (GRCm39)	L191P	probably damaging	Het
Bola1	A	T	3: 96,104,517 (GRCm39)	S26T	probably benign	Het
Borcs6	T	C	11: 68,950,646 (GRCm39)	L8P	probably benign	Het
Brca1	T	G	11: 101,416,463 (GRCm39)	Q557P	probably damaging	Het
Brca2	G	A	5: 150,460,128 (GRCm39)	E468K	possibly damaging	Het
Capza2	T	A	6: 17,637,131 (GRCm39)	L4Q	probably benign	Het
Cc2d2b	T	A	19: 40,804,228 (GRCm39)	Y918*	probably null	Het
Ccdc163	T	C	4: 116,567,472 (GRCm39)	L67P	probably damaging	Het
Ccdc172	C	A	19: 58,525,022 (GRCm39)	Q160K	probably damaging	Het
Ccp110	T	A	7: 118,321,903 (GRCm39)	D519E	probably benign	Het
Cd300ld2	T	C	11: 114,904,648 (GRCm39)	Q73R	probably benign	Het
Cfap46	T	A	7: 139,236,496 (GRCm39)	D608V		Het
Cfap69	T	G	5: 5,654,287 (GRCm39)	Y549S	probably benign	Het
Cilp	G	A	9: 65,186,286 (GRCm39)	G794S	probably damaging	Het
Clu	A	C	14: 66,217,211 (GRCm39)	Q348P	probably damaging	Het
Cnot1	A	T	8: 96,473,649 (GRCm39)	N1153K	probably benign	Het
Col2a1	T	C	15: 97,888,849 (GRCm39)		probably null	Het
Col6a6	A	T	9: 105,661,272 (GRCm39)	I279N	probably damaging	Het
Dop1a	A	G	9: 86,402,259 (GRCm39)	D1153G	possibly damaging	Het
Dpyd	A	G	3: 119,205,822 (GRCm39)	K888E	probably benign	Het
Eif2ak4	T	C	2: 118,287,656 (GRCm39)	I1208T	possibly damaging	Het
Epha1	T	C	6: 42,335,722 (GRCm39)	I972V	probably damaging	Het
Fam13c	C	T	10: 70,388,983 (GRCm39)	T503I	probably benign	Het
Fbxo43	T	A	15: 36,162,013 (GRCm39)	Q398L	probably benign	Het
Fbxo44	A	G	4: 148,243,089 (GRCm39)	I57T	probably benign	Het
Flnc	T	C	6: 29,449,369 (GRCm39)	I1422T	probably benign	Het
Flrt2	T	C	12: 95,746,076 (GRCm39)	L138P	probably damaging	Het
Frem3	A	G	8: 81,338,840 (GRCm39)	K378E	possibly damaging	Het
Ganc	T	A	2: 120,252,560 (GRCm39)	D128E	probably benign	Het
Gm19965	T	C	1: 116,749,515 (GRCm39)	S399P		Het
H2-Q1	A	T	17: 35,539,997 (GRCm39)	K89*	probably null	Het
H2-Q2	A	T	17: 35,561,301 (GRCm39)		probably benign	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Homer2	T	A	7: 81,274,014 (GRCm39)	S125C	possibly damaging	Het
Hormad2	T	C	11: 4,358,714 (GRCm39)	K231R	probably benign	Het
Kif17	A	C	4: 138,005,220 (GRCm39)	K262Q	probably damaging	Het
Kif20a	G	A	18: 34,761,444 (GRCm39)	S279N	probably benign	Het
Lrp12	T	C	15: 39,741,450 (GRCm39)	N441D	probably damaging	Het
Lta4h	G	T	10: 93,318,126 (GRCm39)	L515F	possibly damaging	Het
Mavs	T	C	2: 131,088,470 (GRCm39)	S425P	probably benign	Het
Mcat	A	C	15: 83,439,592 (GRCm39)	D99E	probably damaging	Het
Nav2	C	A	7: 49,195,765 (GRCm39)	T1047K	probably benign	Het
Neb	T	A	2: 52,099,657 (GRCm39)	Y4731F	probably damaging	Het
Nectin4	G	C	1: 171,211,325 (GRCm39)	R283P	probably null	Het
Notch3	G	A	17: 32,377,086 (GRCm39)	T273I	probably damaging	Het
Or4c11c	G	A	2: 88,661,633 (GRCm39)	M57I	possibly damaging	Het
Or5i1	A	T	2: 87,613,830 (GRCm39)	*317C	probably null	Het
Or6b2b	T	G	1: 92,419,247 (GRCm39)	I77L	possibly damaging	Het
Or6z7	T	A	7: 6,483,868 (GRCm39)	I96F	possibly damaging	Het
Pcdha12	A	T	18: 37,155,638 (GRCm39)	T786S	probably benign	Het
Pde9a	A	G	17: 31,692,186 (GRCm39)	K520E	probably benign	Het
Piezo2	A	C	18: 63,208,801 (GRCm39)	L1404R	probably damaging	Het
Rrbp1	T	C	2: 143,792,416 (GRCm39)	S1321G	probably benign	Het
Rtkn	T	C	6: 83,128,897 (GRCm39)	V464A	probably damaging	Het
Rtn4rl1	T	C	11: 75,156,147 (GRCm39)	F193S	probably damaging	Het
Samd4	G	A	14: 47,122,374 (GRCm39)	V33I	probably damaging	Het
Scn5a	A	G	9: 119,350,357 (GRCm39)	L839P	probably damaging	Het
Stradb	C	A	1: 59,030,356 (GRCm39)	N203K	unknown	Het
Tenm2	T	C	11: 35,960,196 (GRCm39)	T1044A	possibly damaging	Het
Tmem245	A	C	4: 56,886,037 (GRCm39)	W860G	probably damaging	Het
Tpst2	G	A	5: 112,455,803 (GRCm39)	R114H	probably damaging	Het
Trappc10	C	T	10: 78,036,460 (GRCm39)	D920N	possibly damaging	Het
Vmn1r59	T	A	7: 5,456,966 (GRCm39)	I265L	probably benign	Het
Zbtb20	A	C	16: 43,439,100 (GRCm39)	D667A	probably damaging	Het
Zbtb4	T	A	11: 69,668,309 (GRCm39)	I344N	probably damaging	Het
Zdbf2	T	A	1: 63,343,234 (GRCm39)	C538S	possibly damaging	Het
Zmym6	A	T	4: 127,016,355 (GRCm39)	H712L	probably 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
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'- CTTACGGGAAAGAAGCCACC -3'
(R):5'- CTGATACAGGAGAGCTCAGAAC -3'

Sequencing Primer
(F):5'- GGGAAAGAAGCCACCACATGTC -3'
(R):5'- AGTTGGGTCCCCCTAAG -3'

Posted On

2020-07-28