Mutagenetix > Incidental Mutation

Incidental Mutation 'R6384:Slc6a16'

515503

Institutional Source

Beutler Lab

Gene Symbol

Slc6a16

Ensembl Gene

ENSMUSG00000094152

Gene Name

solute carrier family 6, member 16

Synonyms

LOC381884

MMRRC Submission

044533-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R6384 (G1)

Quality Score

161.009

Status

Not validated

Chromosome

Chromosomal Location

44890509-44922791 bp(+) (GRCm39)

Type of Mutation

splice site (57 bp from exon)

DNA Base Change (assembly)

A to G at 44907017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149306 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179310] [ENSMUST00000213347]

AlphaFold

A0A1L1SR47

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157656

Predicted Effect

probably benign
Transcript: ENSMUST00000179310

SMART Domains

Protein: ENSMUSP00000136199
Gene: ENSMUSG00000094152

Domain	Start	End	E-Value	Type
Pfam:SNF	114	668	2.4e-100	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179310

Predicted Effect

probably null
Transcript: ENSMUST00000213347

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC6A16 shows structural characteristics of an Na(+)- and Cl(-)-dependent neurotransmitter transporter, including 12 transmembrane (TM) domains, intracellular N and C termini, and large extracellular loops containing multiple N-glycosylation sites.[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,790,066 (GRCm39)	T97S	probably benign	Het
Adam34	T	A	8: 44,103,836 (GRCm39)	D603V	probably benign	Het
Adamts5	C	T	16: 85,659,716 (GRCm39)	V859I	probably benign	Het
Alb	T	A	5: 90,620,499 (GRCm39)	D536E	possibly damaging	Het
Amz2	A	G	11: 109,319,860 (GRCm39)	Y82C	probably damaging	Het
Asxl1	T	C	2: 153,233,744 (GRCm39)		probably null	Het
Bach1	C	T	16: 87,516,745 (GRCm39)	Q429*	probably null	Het
Bcl6	A	G	16: 23,793,615 (GRCm39)	Y111H	probably damaging	Het
Ccnj	T	C	19: 40,834,451 (GRCm39)	V338A	probably benign	Het
Cdca3	C	T	6: 124,809,382 (GRCm39)	P174L	probably damaging	Het
Cdk17	T	C	10: 93,047,827 (GRCm39)	L25P	probably damaging	Het
Cdr2	G	A	7: 120,581,351 (GRCm39)		probably null	Het
Cyp2c38	A	T	19: 39,380,737 (GRCm39)		probably null	Het
Ednra	T	C	8: 78,415,723 (GRCm39)	N175D	probably damaging	Het
Elp3	T	C	14: 65,797,660 (GRCm39)	Y337C	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Eps15l1	A	T	8: 73,122,554 (GRCm39)		probably null	Het
F11r	A	G	1: 171,288,508 (GRCm39)	N117S	probably benign	Het
Foxp2	C	T	6: 15,437,947 (GRCm39)	T716I	probably damaging	Het
Gnaq	A	G	19: 16,293,377 (GRCm39)		probably null	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gpr158	T	C	2: 21,831,099 (GRCm39)	M733T	probably damaging	Het
Hdac7	G	A	15: 97,709,387 (GRCm39)	Q48*	probably null	Het
Hmga2	G	A	10: 120,206,612 (GRCm39)		probably benign	Het
Itgb7	A	G	15: 102,132,886 (GRCm39)	V142A	probably benign	Het
Kif5a	T	C	10: 127,078,644 (GRCm39)	N334D	probably damaging	Het
Lrrc47	T	C	4: 154,100,317 (GRCm39)	S298P	probably benign	Het
Map3k1	A	T	13: 111,887,064 (GRCm39)	S1415R	probably damaging	Het
Mdn1	T	A	4: 32,670,607 (GRCm39)	L424Q	probably damaging	Het
Numb	A	C	12: 83,850,748 (GRCm39)	L154R	probably damaging	Het
Or8g27	T	C	9: 39,129,274 (GRCm39)	V207A	probably benign	Het
Or8k30	A	G	2: 86,339,381 (GRCm39)	K193E	probably benign	Het
Pdcd5	G	T	7: 35,346,334 (GRCm39)	A92E	possibly damaging	Het
Pdcl2	C	T	5: 76,478,855 (GRCm39)		probably null	Het
Rbfa	T	C	18: 80,235,996 (GRCm39)	Y251C	probably damaging	Het
Rgsl1	G	A	1: 153,703,291 (GRCm39)	T120I	possibly damaging	Het
Serpina3g	A	G	12: 104,206,655 (GRCm39)	Q152R	probably null	Het
Setx	T	C	2: 29,063,570 (GRCm39)	S2289P	probably damaging	Het
Slco1a6	C	T	6: 142,055,105 (GRCm39)	D280N	probably benign	Het
Syde2	T	A	3: 145,704,568 (GRCm39)	Y240N	probably damaging	Het
Synpo2	G	A	3: 122,906,698 (GRCm39)	Q873*	probably null	Het
Tlr2	A	G	3: 83,744,301 (GRCm39)	V594A	probably benign	Het
Ttc16	C	T	2: 32,657,561 (GRCm39)	A512T	probably damaging	Het
Tubb5	T	C	17: 36,148,938 (GRCm39)	E3G	probably damaging	Het
Vmn2r112	T	C	17: 22,824,136 (GRCm39)	Y464H	probably damaging	Het
Xcr1	T	A	9: 123,684,847 (GRCm39)	H305L	probably damaging	Het
Yars1	T	G	4: 129,090,771 (GRCm39)		probably null	Het

Other mutations in Slc6a16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0345:Slc6a16	UTSW	7	44,908,672 (GRCm39)	missense	possibly damaging	0.50
R1721:Slc6a16	UTSW	7	44,910,600 (GRCm39)	missense	possibly damaging	0.86
R3788:Slc6a16	UTSW	7	44,909,386 (GRCm39)	missense	probably benign	0.01
R3854:Slc6a16	UTSW	7	44,917,596 (GRCm39)	missense	probably damaging	1.00
R5024:Slc6a16	UTSW	7	44,909,390 (GRCm39)	missense	probably benign	0.02
R5450:Slc6a16	UTSW	7	44,910,672 (GRCm39)	missense	probably benign	0.33
R5624:Slc6a16	UTSW	7	44,910,532 (GRCm39)	missense	probably benign	0.00
R5756:Slc6a16	UTSW	7	44,910,274 (GRCm39)	missense	possibly damaging	0.95
R6224:Slc6a16	UTSW	7	44,910,572 (GRCm39)	missense	probably damaging	1.00
R6736:Slc6a16	UTSW	7	44,908,452 (GRCm39)	missense	possibly damaging	0.57
R7035:Slc6a16	UTSW	7	44,910,251 (GRCm39)	missense	probably damaging	1.00
R7525:Slc6a16	UTSW	7	44,908,537 (GRCm39)	missense	probably benign	0.01
R7527:Slc6a16	UTSW	7	44,922,063 (GRCm39)	missense	probably damaging	1.00
R7681:Slc6a16	UTSW	7	44,910,338 (GRCm39)	missense	probably damaging	1.00
R7884:Slc6a16	UTSW	7	44,908,771 (GRCm39)	missense	probably damaging	0.99
R7966:Slc6a16	UTSW	7	44,917,477 (GRCm39)	missense	possibly damaging	0.92
Z1177:Slc6a16	UTSW	7	44,910,332 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGTCATTCCTGTCGCAGTCTG -3'
(R):5'- TCACAGACAGGTTTGGGAAC -3'

Sequencing Primer
(F):5'- ATTCCTGTCGCAGTCTGTCATC -3'
(R):5'- GGAACCCTGCTTTGCCTCAC -3'

Posted On

2018-05-04