Mutagenetix > Incidental Mutation

Incidental Mutation 'BB002:Slc6a17'

642149

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: 0.416) question?

Stock #

BB002

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107467543-107518018 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107495740 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 124 (I124V)

Ref Sequence

ENSEMBL: ENSMUSP00000129379 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029499] [ENSMUST00000166892] [ENSMUST00000168211] [ENSMUST00000169449]

AlphaFold

Q8BJI1

Predicted Effect

probably damaging
Transcript: ENSMUST00000029499
AA Change: I124V

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

SMART Domains

Protein: ENSMUSP00000029499
Gene: ENSMUSG00000027894
AA Change: I124V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000166892

SMART Domains

Protein: ENSMUSP00000129588
Gene: ENSMUSG00000027894

Domain	Start	End	E-Value	Type
Pfam:SNF	60	116	1.1e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000168211
AA Change: I83V

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

SMART Domains

Protein: ENSMUSP00000131888
Gene: ENSMUSG00000027894
AA Change: I83V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000169449
AA Change: I124V

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

SMART Domains

Protein: ENSMUSP00000129379
Gene: ENSMUSG00000027894
AA Change: I124V

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: 98.8%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	T	7: 40,994,082	Q392*	probably null	Het
4933427D14Rik	A	C	11: 72,180,501	L473V	probably benign	Het
A930002H24Rik	A	T	17: 63,863,397	V132E	unknown	Het
Abcc2	A	G	19: 43,807,112	I436V	probably benign	Het
Ahr	G	A	12: 35,515,068	Q103*	probably null	Het
Asb15	T	A	6: 24,562,724	H228Q	probably benign	Het
Asphd1	T	A	7: 126,948,456	Y225F	probably damaging	Het
Atp2c1	A	G	9: 105,442,770	M468T	possibly damaging	Het
BC030499	T	C	11: 78,291,623	L86P	probably damaging	Het
Brca1	A	G	11: 101,508,146	I1540T	probably benign	Het
Cdh20	A	T	1: 104,984,748	I576F	probably damaging	Het
Chst11	T	A	10: 83,190,954	S72T	probably damaging	Het
Cldn17	T	G	16: 88,506,645	K65N	probably damaging	Het
Cldn22	T	C	8: 47,825,187	I220T	probably benign	Het
Coasy	T	G	11: 101,083,696	D229E	probably benign	Het
Colec10	T	C	15: 54,462,371	V199A	probably damaging	Het
Cpn2	G	T	16: 30,260,801	D27E	probably damaging	Het
F5	T	A	1: 164,176,366		probably null	Het
Fat3	C	T	9: 16,031,360	V1239I	possibly damaging	Het
Fbxl16	A	G	17: 25,816,906	N159S	probably benign	Het
Fhad1	A	G	4: 141,954,187	I514T	probably damaging	Het
Fras1	A	G	5: 96,781,584	K3949R	probably damaging	Het
Gm8126	A	G	14: 43,261,566	N164S	probably damaging	Het
Grm3	T	A	5: 9,589,880	E55V	probably benign	Het
Itgbl1	G	A	14: 123,973,323	D478N	possibly damaging	Het
Kcnt2	T	A	1: 140,354,509	Y77*	probably null	Het
Kdm4c	T	C	4: 74,404,821	S997P	probably damaging	Het
Kti12	A	C	4: 108,848,246	E119A	probably benign	Het
Kti12	G	T	4: 108,848,247	E119D	probably benign	Het
Lrrc28	T	C	7: 67,619,109	Y71C	probably damaging	Het
Lrrc45	T	A	11: 120,715,880	W203R	probably benign	Het
Lrrc66	A	T	5: 73,608,492	C403S	possibly damaging	Het
Ly6g6e	A	T	17: 35,077,918	E45V	probably damaging	Het
Mgam	C	T	6: 40,759,051	T1574I	probably damaging	Het
Msrb2	A	T	2: 19,383,280	M80L	probably benign	Het
Musk	T	A	4: 58,367,513	L592Q	probably damaging	Het
Nlrp4a	C	A	7: 26,450,586	N539K	probably benign	Het
Obscn	C	G	11: 59,112,555	E1306Q	probably benign	Het
Olfr1006	T	C	2: 85,674,563	E196G		Het
Olfr1291-ps1	A	G	2: 111,499,821	S190G	probably damaging	Het
Olfr355	A	G	2: 36,927,359	F252L	possibly damaging	Het
Olfr388-ps1	A	G	11: 73,724,536	S163P	unknown	Het
Opalin	T	A	19: 41,063,803	*144C	probably null	Het
Pgam2	T	A	11: 5,803,007	H196L	possibly damaging	Het
Prrc2b	A	G	2: 32,204,115	E503G	probably damaging	Het
Prss45	T	C	9: 110,841,035	L304P	unknown	Het
Rbm20	T	A	19: 53,813,322	V87D	probably damaging	Het
Serpinb8	T	C	1: 107,598,985	L85S	probably benign	Het
Sh2b2	A	T	5: 136,224,261	H352Q	probably benign	Het
Smim10l1	G	A	6: 133,105,582	V31M	probably damaging	Het
Snx10	T	C	6: 51,580,321	S78P	probably benign	Het
Stard10	T	C	7: 101,342,631	V187A	probably damaging	Het
Svil	C	A	18: 5,118,357	D2146E	probably benign	Het
Tsc22d4	A	G	5: 137,751,365	D301G	probably null	Het
Ube3c	T	A	5: 29,646,431	I752N	probably damaging	Het
Wisp2	G	C	2: 163,829,041	R156T	possibly damaging	Het
Wwc1	T	C	11: 35,844,163	M962V	probably benign	Het

Other mutations in Slc6a17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02432:Slc6a17	APN	3	107493177	missense	possibly damaging	0.56
IGL02514:Slc6a17	APN	3	107495677	missense	possibly damaging	0.94
IGL03395:Slc6a17	APN	3	107477306	missense	probably damaging	1.00
BB012:Slc6a17	UTSW	3	107495740	missense	probably damaging	1.00
R0454:Slc6a17	UTSW	3	107476867	missense	probably benign	0.12
R1201:Slc6a17	UTSW	3	107493072	missense	possibly damaging	0.90
R1551:Slc6a17	UTSW	3	107472127	missense	possibly damaging	0.85
R1681:Slc6a17	UTSW	3	107474386	missense	probably damaging	1.00
R1721:Slc6a17	UTSW	3	107472176	missense	probably damaging	1.00
R1765:Slc6a17	UTSW	3	107473579	missense	possibly damaging	0.95
R1867:Slc6a17	UTSW	3	107472176	missense	probably damaging	1.00
R2167:Slc6a17	UTSW	3	107491501	nonsense	probably null
R3708:Slc6a17	UTSW	3	107493085	missense	probably benign
R3814:Slc6a17	UTSW	3	107471317	missense	possibly damaging	0.92
R4639:Slc6a17	UTSW	3	107474281	missense	probably benign
R4807:Slc6a17	UTSW	3	107500487	missense	possibly damaging	0.90
R5048:Slc6a17	UTSW	3	107471437	nonsense	probably null
R6076:Slc6a17	UTSW	3	107472071	missense	possibly damaging	0.67
R6326:Slc6a17	UTSW	3	107500406	missense	probably damaging	0.98
R6713:Slc6a17	UTSW	3	107471387	missense	probably benign	0.00
R7073:Slc6a17	UTSW	3	107471439	missense	probably benign	0.00
R7097:Slc6a17	UTSW	3	107493148	missense	probably damaging	1.00
R7323:Slc6a17	UTSW	3	107491478	missense	probably benign	0.01
R7597:Slc6a17	UTSW	3	107471352	missense	possibly damaging	0.89
R7755:Slc6a17	UTSW	3	107474355	missense	probably damaging	1.00
R7841:Slc6a17	UTSW	3	107476898	missense	possibly damaging	0.69
R7925:Slc6a17	UTSW	3	107495740	missense	probably damaging	1.00
R8041:Slc6a17	UTSW	3	107474428	missense	probably damaging	1.00
R8305:Slc6a17	UTSW	3	107473585	missense	probably benign	0.31
R8306:Slc6a17	UTSW	3	107473669	missense	probably benign
R8488:Slc6a17	UTSW	3	107477258	missense	possibly damaging	0.84
R8930:Slc6a17	UTSW	3	107472191	missense	probably benign	0.19
R8932:Slc6a17	UTSW	3	107472191	missense	probably benign	0.19
R9287:Slc6a17	UTSW	3	107477235	missense	probably damaging	1.00
R9483:Slc6a17	UTSW	3	107471456	missense	possibly damaging	0.50
R9601:Slc6a17	UTSW	3	107473614	missense	possibly damaging	0.95
R9617:Slc6a17	UTSW	3	107477369	missense	probably damaging	1.00
X0010:Slc6a17	UTSW	3	107493106	missense	probably benign	0.05
X0062:Slc6a17	UTSW	3	107500368	missense	probably null	1.00
Z1176:Slc6a17	UTSW	3	107476766	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCAAGACTGTGGCCTATAAACC -3'
(R):5'- TGGTATATGGCTCCCACACC -3'

Sequencing Primer
(F):5'- GTGGCCTATAAACCTGATGATGTCC -3'
(R):5'- GTGCGCACACTAAGGTTAAGACC -3'

Posted On

2020-08-01