Mutagenetix > Incidental Mutation

Incidental Mutation 'R8305:Slc6a17'

640979

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

Is this an essential gene?

Probably non essential (E-score: 0.238) question?

Stock #

R8305 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107467543-107518018 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107473585 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 535 (I535F)

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: I532F

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029499
Gene: ENSMUSG00000027894
AA Change: I532F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000168211
AA Change: I494F

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000131888
Gene: ENSMUSG00000027894
AA Change: I494F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000169449
AA Change: I535F

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000129379
Gene: ENSMUSG00000027894
AA Change: I535F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (65/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 63,971,395	E243K	possibly damaging	Het
Accsl	A	T	2: 93,866,078	H58Q	probably benign	Het
Actl7a	T	A	4: 56,743,744	F90L	probably benign	Het
Adam5	G	A	8: 24,810,703	A270V	possibly damaging	Het
Angptl3	A	G	4: 99,031,311	T103A	probably damaging	Het
Ankhd1	T	C	18: 36,647,166	L1757P	possibly damaging	Het
Apoa4	T	A	9: 46,241,155	M1K	probably null	Het
Arih1	T	A	9: 59,396,487	Q445L	probably benign	Het
Asb14	A	T	14: 26,912,097	I420L	probably benign	Het
Bbs2	A	C	8: 94,074,325	V626G	probably damaging	Het
BC089597	T	A	10: 127,876,995	D287E	probably damaging	Het
Cep290	C	A	10: 100,544,934	A1678D	probably benign	Het
Cilp	G	A	9: 65,279,004	G794S	probably damaging	Het
Clca3a1	C	T	3: 144,759,166		probably benign	Het
Clca3b	T	A	3: 144,825,937	N702I	probably damaging	Het
Col24a1	T	C	3: 145,474,182	V1143A	probably benign	Het
Cux1	T	C	5: 136,360,009	T223A	probably benign	Het
Defa30	A	T	8: 21,135,459	T80S	probably benign	Het
Dennd1a	G	A	2: 37,858,081	L375F	probably damaging	Het
Dnajc6	C	T	4: 101,623,787	T675I	probably damaging	Het
Emc9	A	G	14: 55,585,099	V4A	probably damaging	Het
Enpp3	C	G	10: 24,824,929		probably null	Het
Fam117b	A	G	1: 59,913,623	T154A	probably benign	Het
Filip1	G	T	9: 79,820,475	Y287*	probably null	Het
Flt3	T	C	5: 147,348,054	D751G	probably damaging	Het
Frem1	T	A	4: 82,999,989	Q572L	probably benign	Het
Gja10	G	A	4: 32,602,441		probably benign	Het
Gm7356	T	A	17: 14,001,437	Y110F	probably benign	Het
Igf2r	T	C	17: 12,733,860	K233R	probably benign	Het
Igkv9-129	A	T	6: 67,840,222	E103D	probably benign	Het
Igsf11	C	A	16: 39,007,224	T48N	probably damaging	Het
Itpkc	A	T	7: 27,214,519	Y506N	probably damaging	Het
Kat2a	A	C	11: 100,709,478	M357R	possibly damaging	Het
Kbtbd12	T	C	6: 88,618,150	R233G	possibly damaging	Het
Kcnd2	T	A	6: 21,726,198	C563*	probably null	Het
Kcnu1	T	C	8: 25,891,990	V456A	probably benign	Het
Kif24	A	G	4: 41,428,825	V45A	probably damaging	Het
Macf1	A	T	4: 123,395,621		probably benign	Het
Map3k19	T	A	1: 127,817,270	E1177D		Het
Mdn1	G	T	4: 32,725,107	L2575F	probably benign	Het
Mga	T	A	2: 119,946,319	M1569K	possibly damaging	Het
Mvk	T	C	5: 114,450,779	Y161H	probably damaging	Het
Olfr119	T	A	17: 37,701,498	M276K	probably benign	Het
Olfr134	C	A	17: 38,175,573	T163K	probably damaging	Het
Olfr301	G	T	7: 86,412,779	C139F	probably damaging	Het
Pcdhb14	T	A	18: 37,450,022	V727E	possibly damaging	Het
Pcsk7	T	G	9: 45,910,409	V167G	probably damaging	Het
Plin5	T	C	17: 56,115,221	D146G	probably benign	Het
Plxna4	C	T	6: 32,211,065	G879R	possibly damaging	Het
Prss58	C	T	6: 40,895,660	A171T	probably benign	Het
Pum1	A	G	4: 130,771,920	I1016V	probably benign	Het
Rbm43	A	G	2: 51,926,700	V85A	probably damaging	Het
RP23-56A14.9	A	G	7: 142,135,623	C138R	unknown	Het
Rptor	T	A	11: 119,811,986	L393Q	probably damaging	Het
Sbf2	T	G	7: 110,371,618	H857P	possibly damaging	Het
Scn8a	A	C	15: 101,040,506	T1919P	probably benign	Het
Sema6b	C	T	17: 56,127,084	G377E	probably damaging	Het
Senp7	T	A	16: 56,155,240	D436E	probably damaging	Het
Sptbn2	T	A	19: 4,729,130	S281T	possibly damaging	Het
Stt3b	T	C	9: 115,254,931	I392M	probably damaging	Het
Tfap2b	T	C	1: 19,226,436	V201A	possibly damaging	Het
Timm10b	T	C	7: 105,640,669		probably benign	Het
Ttc23	A	C	7: 67,662,387	D14A	probably damaging	Het
Usp32	A	T	11: 85,032,185	L636I	possibly damaging	Het
Vgll4	G	T	6: 114,890,652	H79Q	probably damaging	Het
Vps13d	A	G	4: 145,092,288	I3047T		Het
Zan	T	C	5: 137,450,551	E1680G	unknown	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
BB002:Slc6a17	UTSW	3	107495740	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
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'- ATGAACTATGATCTCTTGCCCC -3'
(R):5'- AGCTCAGAACCTCAGCTTCC -3'

Sequencing Primer
(F):5'- TTGCCCCTTTCAAAAGCAGC -3'
(R):5'- CGCTCCGGAAACTACTT -3'

Posted On

2020-07-28