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

067716-MU

Accession Numbers

Essential gene?

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

Stock #

R8305 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107374864-107425334 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107380901 bp (GRCm39)

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: 64,208,844 (GRCm39)	E243K	possibly damaging	Het
Accsl	A	T	2: 93,696,423 (GRCm39)	H58Q	probably benign	Het
Actl7a	T	A	4: 56,743,744 (GRCm39)	F90L	probably benign	Het
Adam5	G	A	8: 25,300,719 (GRCm39)	A270V	possibly damaging	Het
Angptl3	A	G	4: 98,919,548 (GRCm39)	T103A	probably damaging	Het
Ankhd1	T	C	18: 36,780,219 (GRCm39)	L1757P	possibly damaging	Het
Apoa4	T	A	9: 46,152,453 (GRCm39)	M1K	probably null	Het
Arih1	T	A	9: 59,303,770 (GRCm39)	Q445L	probably benign	Het
Asb14	A	T	14: 26,634,054 (GRCm39)	I420L	probably benign	Het
Bbs2	A	C	8: 94,800,953 (GRCm39)	V626G	probably damaging	Het
Cep290	C	A	10: 100,380,796 (GRCm39)	A1678D	probably benign	Het
Cilp	G	A	9: 65,186,286 (GRCm39)	G794S	probably damaging	Het
Clca3a1	C	T	3: 144,464,927 (GRCm39)		probably benign	Het
Clca3b	T	A	3: 144,531,698 (GRCm39)	N702I	probably damaging	Het
Col24a1	T	C	3: 145,179,937 (GRCm39)	V1143A	probably benign	Het
Cux1	T	C	5: 136,388,863 (GRCm39)	T223A	probably benign	Het
Defa30	A	T	8: 21,625,475 (GRCm39)	T80S	probably benign	Het
Dennd1a	G	A	2: 37,748,093 (GRCm39)	L375F	probably damaging	Het
Dnajc6	C	T	4: 101,480,984 (GRCm39)	T675I	probably damaging	Het
Emc9	A	G	14: 55,822,556 (GRCm39)	V4A	probably damaging	Het
Enpp3	C	G	10: 24,700,827 (GRCm39)		probably null	Het
Fam117b	A	G	1: 59,952,782 (GRCm39)	T154A	probably benign	Het
Filip1	G	T	9: 79,727,757 (GRCm39)	Y287*	probably null	Het
Flt3	T	C	5: 147,284,864 (GRCm39)	D751G	probably damaging	Het
Frem1	T	A	4: 82,918,226 (GRCm39)	Q572L	probably benign	Het
Gja10	G	A	4: 32,602,441 (GRCm39)		probably benign	Het
Gm39115	A	G	7: 141,689,360 (GRCm39)	C138R	unknown	Het
Gm7356	T	A	17: 14,221,699 (GRCm39)	Y110F	probably benign	Het
Igf2r	T	C	17: 12,952,747 (GRCm39)	K233R	probably benign	Het
Igkv9-129	A	T	6: 67,817,206 (GRCm39)	E103D	probably benign	Het
Igsf11	C	A	16: 38,827,586 (GRCm39)	T48N	probably damaging	Het
Itpkc	A	T	7: 26,913,944 (GRCm39)	Y506N	probably damaging	Het
Kat2a	A	C	11: 100,600,304 (GRCm39)	M357R	possibly damaging	Het
Kbtbd12	T	C	6: 88,595,132 (GRCm39)	R233G	possibly damaging	Het
Kcnd2	T	A	6: 21,726,197 (GRCm39)	C563*	probably null	Het
Kcnu1	T	C	8: 26,382,018 (GRCm39)	V456A	probably benign	Het
Kif24	A	G	4: 41,428,825 (GRCm39)	V45A	probably damaging	Het
Macf1	A	T	4: 123,289,414 (GRCm39)		probably benign	Het
Map3k19	T	A	1: 127,745,007 (GRCm39)	E1177D		Het
Mdn1	G	T	4: 32,725,107 (GRCm39)	L2575F	probably benign	Het
Mga	T	A	2: 119,776,800 (GRCm39)	M1569K	possibly damaging	Het
Mvk	T	C	5: 114,588,840 (GRCm39)	Y161H	probably damaging	Het
Or10al3	T	A	17: 38,012,389 (GRCm39)	M276K	probably benign	Het
Or14c44	G	T	7: 86,061,987 (GRCm39)	C139F	probably damaging	Het
Or2n1	C	A	17: 38,486,464 (GRCm39)	T163K	probably damaging	Het
Pcdhb14	T	A	18: 37,583,075 (GRCm39)	V727E	possibly damaging	Het
Pcsk7	T	G	9: 45,821,707 (GRCm39)	V167G	probably damaging	Het
Plin5	T	C	17: 56,422,221 (GRCm39)	D146G	probably benign	Het
Plxna4	C	T	6: 32,188,000 (GRCm39)	G879R	possibly damaging	Het
Prss58	C	T	6: 40,872,594 (GRCm39)	A171T	probably benign	Het
Pum1	A	G	4: 130,499,231 (GRCm39)	I1016V	probably benign	Het
Rbm43	A	G	2: 51,816,712 (GRCm39)	V85A	probably damaging	Het
Rdh16f2	T	A	10: 127,712,864 (GRCm39)	D287E	probably damaging	Het
Rptor	T	A	11: 119,702,812 (GRCm39)	L393Q	probably damaging	Het
Sbf2	T	G	7: 109,970,825 (GRCm39)	H857P	possibly damaging	Het
Scn8a	A	C	15: 100,938,387 (GRCm39)	T1919P	probably benign	Het
Sema6b	C	T	17: 56,434,084 (GRCm39)	G377E	probably damaging	Het
Senp7	T	A	16: 55,975,603 (GRCm39)	D436E	probably damaging	Het
Sptbn2	T	A	19: 4,779,158 (GRCm39)	S281T	possibly damaging	Het
Stt3b	T	C	9: 115,083,999 (GRCm39)	I392M	probably damaging	Het
Tfap2b	T	C	1: 19,296,660 (GRCm39)	V201A	possibly damaging	Het
Timm10b	T	C	7: 105,289,876 (GRCm39)		probably benign	Het
Ttc23	A	C	7: 67,312,135 (GRCm39)	D14A	probably damaging	Het
Usp32	A	T	11: 84,923,011 (GRCm39)	L636I	possibly damaging	Het
Vgll4	G	T	6: 114,867,613 (GRCm39)	H79Q	probably damaging	Het
Vps13d	A	G	4: 144,818,858 (GRCm39)	I3047T		Het
Zan	T	C	5: 137,448,813 (GRCm39)	E1680G	unknown	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
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'- ATGAACTATGATCTCTTGCCCC -3'
(R):5'- AGCTCAGAACCTCAGCTTCC -3'

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

Posted On

2020-07-28