Mutagenetix > Incidental Mutation

Incidental Mutation 'R6326:Slc6a17'

510388

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

Essential gene?

Possibly non essential (E-score: 0.416) question?

Stock #

R6326 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107467543-107518018 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107500406 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 83 (I83N)

Ref Sequence

ENSEMBL: ENSMUSP00000129588 (fasta)

Gene Model

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

AlphaFold

Q8BJI1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029499
AA Change: I83N

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029499
Gene: ENSMUSG00000027894
AA Change: I83N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166736

Predicted Effect

probably damaging
Transcript: ENSMUST00000166892
AA Change: I83N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129588
Gene: ENSMUSG00000027894
AA Change: I83N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167898

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168211
AA Change: I42N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131888
Gene: ENSMUSG00000027894
AA Change: I42N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169413

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169449
AA Change: I83N

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129379
Gene: ENSMUSG00000027894
AA Change: I83N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170429

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032A03Rik	T	G	9: 50,764,757	N87T	probably damaging	Het
2810474O19Rik	T	A	6: 149,328,995	Y1180N	probably damaging	Het
Adamts17	A	T	7: 67,120,888	Y915F	probably benign	Het
Adap2	T	A	11: 80,155,022	F43I	probably damaging	Het
Adprhl2	A	T	4: 126,316,613	L358Q	possibly damaging	Het
AI314180	T	A	4: 58,827,068	T1022S	probably benign	Het
Akap9	A	C	5: 3,962,061	Q921H	probably damaging	Het
Amigo2	A	G	15: 97,245,375	S389P	probably benign	Het
Atg2b	A	T	12: 105,661,092	C545*	probably null	Het
C2cd3	A	G	7: 100,416,428	E807G	probably benign	Het
Ccdc110	A	G	8: 45,942,041	E323G	probably damaging	Het
Cdk5rap2	T	A	4: 70,235,454	S1711C	probably damaging	Het
Cebpzos	T	G	17: 78,919,057	D39E	probably damaging	Het
Cenpe	A	G	3: 135,239,778	N1018D	probably benign	Het
Clspn	C	A	4: 126,565,739	H141Q	probably damaging	Het
Cluh	C	T	11: 74,666,242	A1010V	probably benign	Het
Col27a1	G	T	4: 63,324,441		probably benign	Het
Cpt2	T	C	4: 107,914,316	M61V	probably benign	Het
Ddr2	T	A	1: 169,987,140	H578L	probably damaging	Het
Dnah14	T	A	1: 181,783,556	I3749N	probably damaging	Het
Dnajc18	T	C	18: 35,680,925	T264A	possibly damaging	Het
Eml6	T	C	11: 29,819,066	N693S	probably damaging	Het
Ephx4	A	G	5: 107,406,111	E9G	probably damaging	Het
Eps15l1	G	A	8: 72,341,434	Q747*	probably null	Het
Flrt1	C	T	19: 7,096,609	S191N	probably damaging	Het
Gm5114	C	T	7: 39,408,155	R680H	probably benign	Het
Gm5431	T	C	11: 48,889,345	H250R	probably damaging	Het
Gm7233	T	C	14: 43,182,885	C198R	possibly damaging	Het
Herc2	C	G	7: 56,222,934	Q4407E	probably damaging	Het
Hmx3	C	G	7: 131,543,005		probably benign	Het
Hoxb7	C	A	11: 96,287,083	A119E	probably benign	Het
Ifi207	A	T	1: 173,729,966	M402K	probably benign	Het
Ints14	T	C	9: 64,964,437	V19A	probably benign	Het
Itgae	T	A	11: 73,131,693	N911K	possibly damaging	Het
Kif1a	T	C	1: 93,076,326	S145G	probably damaging	Het
Klhdc4	A	G	8: 121,805,054	W187R	probably damaging	Het
Krt1	A	T	15: 101,850,249	I160N	probably damaging	Het
Krt12	T	C	11: 99,416,919	T448A	probably benign	Het
Lcmt2	G	A	2: 121,139,457	R382*	probably null	Het
Map3k8	C	T	18: 4,340,651	S221N	probably damaging	Het
Med17	T	C	9: 15,279,558	D79G	probably benign	Het
Mlf1	A	T	3: 67,399,727	I257F	probably damaging	Het
Mov10l1	T	A	15: 88,994,895	F153I	probably damaging	Het
Msto1	A	C	3: 88,912,098	V149G	probably damaging	Het
Mybl1	T	C	1: 9,678,507		probably null	Het
Myoc	A	G	1: 162,649,011	Y428C	probably damaging	Het
Nin	A	G	12: 70,045,181	S785P	possibly damaging	Het
Oit3	A	T	10: 59,428,239	F358I	probably damaging	Het
Olfr1095	C	T	2: 86,850,994	V235I	probably benign	Het
Olfr794	A	G	10: 129,570,702	T16A	possibly damaging	Het
Paip1	A	G	13: 119,430,217	N29S	probably benign	Het
Pcdhgb4	T	C	18: 37,722,456	S635P	probably benign	Het
Pcsk1	A	G	13: 75,132,179	N708D	possibly damaging	Het
Plch1	C	T	3: 63,781,390	W131*	probably null	Het
Prag1	A	T	8: 36,102,706	M148L	possibly damaging	Het
Ptch1	A	G	13: 63,543,545	L176P	probably damaging	Het
Ralgapa1	A	T	12: 55,747,146	V568D	probably damaging	Het
Rb1	A	T	14: 73,198,534	M897K	probably benign	Het
Robo3	T	A	9: 37,427,027	Q386L	probably damaging	Het
Rtn4rl1	T	C	11: 75,266,002	V420A	possibly damaging	Het
Sall1	A	T	8: 89,030,268	N1069K	probably benign	Het
Sipa1l1	A	G	12: 82,372,468	E640G	probably damaging	Het
Slc22a2	C	A	17: 12,612,410	Y362*	probably null	Het
Slc5a9	T	C	4: 111,880,253	E603G	probably benign	Het
Snx29	G	T	16: 11,403,566	M285I	probably benign	Het
Spata2	T	C	2: 167,484,174	T242A	possibly damaging	Het
Stard13	A	G	5: 151,046,919	L733P	possibly damaging	Het
Svep1	A	G	4: 58,073,045	V2088A	possibly damaging	Het
Tdp2	A	G	13: 24,840,557	E279G	probably damaging	Het
Tnfrsf8	T	G	4: 145,269,224	I422L	probably damaging	Het
Tpk1	T	A	6: 43,346,802	T189S	possibly damaging	Het
Trhde	A	T	10: 114,567,224	M498K	probably damaging	Het
Trim35	T	A	14: 66,303,204	H168Q	possibly damaging	Het
Tubb5	T	C	17: 35,836,455		probably benign	Het
Vmn1r181	G	A	7: 23,984,758	R216Q	probably benign	Het
Vmn2r77	G	A	7: 86,801,823	G306R	probably benign	Het
Xkr4	C	T	1: 3,671,038	R104H	possibly damaging	Het
Zcchc11	C	T	4: 108,478,980	T6I	probably benign	Het
Zfp398	T	C	6: 47,866,421	I337T	possibly damaging	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
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'- AGCCACTTGTGTGACTCTCTG -3'
(R):5'- ATGAGCATGTCACCGAGTCAG -3'

Sequencing Primer
(F):5'- GAGTCTTGTTCTGGAATCCCACAC -3'
(R):5'- ATGTCACCGAGTCAGTGGCTG -3'

Posted On

2018-04-02