Mutagenetix > Incidental Mutation

Incidental Mutation 'R7097:Slc6a17'

550545

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

045189-MU

Accession Numbers

Essential gene?

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

Stock #

R7097 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107374864-107425334 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 107400464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 222 (G222R)

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: G222R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029499
Gene: ENSMUSG00000027894
AA Change: G222R

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: G181R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131888
Gene: ENSMUSG00000027894
AA Change: G181R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000169449
AA Change: G222R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129379
Gene: ENSMUSG00000027894
AA Change: G222R

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

Coding Region Coverage

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

Validation Efficiency

99% (75/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	G	17: 9,224,052 (GRCm39)	N435S	probably damaging	Het
Aip	A	T	19: 4,165,381 (GRCm39)	V195E	probably benign	Het
Amer3	A	T	1: 34,627,869 (GRCm39)	I703F	probably benign	Het
Amfr	T	C	8: 94,738,637 (GRCm39)	E7G	probably benign	Het
Angel1	A	G	12: 86,773,158 (GRCm39)	S4P	probably damaging	Het
Atp2c1	A	G	9: 105,341,850 (GRCm39)	I146T	probably damaging	Het
Atp6v0e	A	G	17: 26,914,390 (GRCm39)	T72A	probably benign	Het
Bahcc1	T	C	11: 120,163,472 (GRCm39)	V590A	possibly damaging	Het
Bcl6	A	G	16: 23,791,364 (GRCm39)	V330A	possibly damaging	Het
Bcl6	T	C	16: 23,791,652 (GRCm39)	D234G	probably damaging	Het
Btaf1	C	T	19: 36,926,502 (GRCm39)	T58I	probably damaging	Het
Ccdc175	A	T	12: 72,175,183 (GRCm39)		probably null	Het
Cdca4	C	A	12: 112,785,189 (GRCm39)	V180L	probably benign	Het
Ces1g	C	A	8: 94,043,665 (GRCm39)	G425C	possibly damaging	Het
Chl1	T	C	6: 103,683,409 (GRCm39)	L745P	probably damaging	Het
Clec4g	T	A	8: 3,769,518 (GRCm39)	T42S	possibly damaging	Het
Ctsg	A	C	14: 56,337,489 (GRCm39)	I238S	probably damaging	Het
Cyb5rl	A	T	4: 106,944,513 (GRCm39)	E41V	unknown	Het
Dcdc2a	A	G	13: 25,291,681 (GRCm39)	E222G	probably benign	Het
Dnaaf1	G	T	8: 120,323,538 (GRCm39)	G509V	possibly damaging	Het
Dnah5	A	G	15: 28,453,410 (GRCm39)	I4394V	probably benign	Het
Dot1l	T	G	10: 80,626,560 (GRCm39)	S1260R	probably damaging	Het
Dst	T	G	1: 34,208,341 (GRCm39)	I1089S	probably damaging	Het
Efcab3	A	T	11: 104,899,787 (GRCm39)	I4350F	possibly damaging	Het
Eps8l3	A	G	3: 107,791,801 (GRCm39)		probably null	Het
Fam135b	A	G	15: 71,493,917 (GRCm39)	V4A	possibly damaging	Het
Fnip2	T	C	3: 79,388,313 (GRCm39)	E806G	probably benign	Het
Fryl	T	A	5: 73,231,251 (GRCm39)	I1609F	probably benign	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gsn	A	T	2: 35,185,061 (GRCm39)	K339*	probably null	Het
Hecw2	T	A	1: 53,904,283 (GRCm39)	Y1155F	possibly damaging	Het
Kif20b	T	A	19: 34,951,892 (GRCm39)	N1723K	probably damaging	Het
Kif2b	T	C	11: 91,467,650 (GRCm39)	D211G	probably benign	Het
Lhfpl4	C	T	6: 113,153,632 (GRCm39)	V140I	probably benign	Het
Med16	C	T	10: 79,739,177 (GRCm39)	G203D	probably damaging	Het
Mrgpra3	T	A	7: 47,239,389 (GRCm39)	Y179F	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Myo18b	A	G	5: 113,022,271 (GRCm39)	S374P	unknown	Het
Myoz1	A	G	14: 20,699,477 (GRCm39)	I287T	possibly damaging	Het
Ncoa6	T	C	2: 155,279,983 (GRCm39)	D11G	probably benign	Het
Nlrp9c	A	G	7: 26,085,046 (GRCm39)	Y178H	probably damaging	Het
Nmur1	T	C	1: 86,315,230 (GRCm39)	T212A	probably damaging	Het
Oacyl	A	G	18: 65,853,323 (GRCm39)	D143G	probably benign	Het
Obox5	A	G	7: 15,492,732 (GRCm39)	Y229C	probably damaging	Het
Or10d1c	A	T	9: 38,893,914 (GRCm39)	M142K	probably benign	Het
Or1j12	A	G	2: 36,342,702 (GRCm39)	Y35C	probably damaging	Het
Or1j18	G	T	2: 36,624,436 (GRCm39)	M34I	probably benign	Het
Or1x2	C	A	11: 50,918,428 (GRCm39)	L200I	probably benign	Het
Or8c13	A	T	9: 38,091,632 (GRCm39)	C162*	probably null	Het
Pcdhb17	A	C	18: 37,619,566 (GRCm39)	N452T	probably benign	Het
Pear1	T	G	3: 87,658,752 (GRCm39)	H901P	probably benign	Het
Peds1	C	G	2: 167,503,398 (GRCm39)	A7P	probably benign	Het
Pi16	A	G	17: 29,545,313 (GRCm39)	Y192C	probably damaging	Het
Pip5k1b	T	G	19: 24,335,424 (GRCm39)	E362D	probably damaging	Het
Pla2g5	T	C	4: 138,531,830 (GRCm39)	D58G	probably damaging	Het
Pole	T	A	5: 110,472,968 (GRCm39)		probably null	Het
Prdm16	G	T	4: 154,429,925 (GRCm39)	T348K	probably damaging	Het
Prkdc	T	A	16: 15,507,207 (GRCm39)	F896I	probably damaging	Het
Prmt7	T	C	8: 106,961,732 (GRCm39)	F215S	unknown	Het
Prss23	T	A	7: 89,159,392 (GRCm39)	T226S	probably damaging	Het
Ptpn14	G	A	1: 189,595,595 (GRCm39)	W739*	probably null	Het
Rfx5	G	T	3: 94,863,850 (GRCm39)	G135C	probably damaging	Het
Scmh1	A	G	4: 120,382,252 (GRCm39)	H573R	probably benign	Het
Serpina5	G	T	12: 104,068,554 (GRCm39)		probably null	Het
Sh3rf2	G	A	18: 42,237,227 (GRCm39)		probably null	Het
Slc38a2	T	C	15: 96,591,182 (GRCm39)	M229V	probably damaging	Het
Sp110	C	T	1: 85,507,406 (GRCm39)	G367D	possibly damaging	Het
Srcap	C	A	7: 127,138,213 (GRCm39)	L1128M	probably damaging	Het
Tpra1	T	A	6: 88,885,276 (GRCm39)	I76N	probably damaging	Het
Trav6-4	A	T	14: 53,692,049 (GRCm39)	Y52F	probably benign	Het
Trp63	C	A	16: 25,639,227 (GRCm39)	H138Q	probably damaging	Het
Trub2	A	G	2: 29,669,838 (GRCm39)	V177A	possibly damaging	Het
Ugt2a2	T	C	5: 87,608,255 (GRCm39)	D528G	possibly damaging	Het
Wnk2	C	A	13: 49,256,314 (GRCm39)	R269L	possibly damaging	Het
Zc3h12c	T	A	9: 52,027,226 (GRCm39)	Q731L	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
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
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'- CCACGAGGCTATCACTGAAG -3'
(R):5'- TTCTGAGGATCTACCAGCTCATG -3'

Sequencing Primer
(F):5'- CACGAGGCTATCACTGAAGTATTC -3'
(R):5'- ACTGCAATCTGGGCAAGGTC -3'

Posted On

2019-05-15