Mutagenetix > Incidental Mutations

Incidental Mutation 'R8713:Slc6a19'

669730

Institutional Source

Beutler Lab

Gene Symbol

Slc6a19

Ensembl Gene

ENSMUSG00000021565

Gene Name

solute carrier family 6 (neurotransmitter transporter), member 19

Synonyms

B<0>AT1, 4632401C08Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R8713 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73679745-73704865 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 73700621 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 5 (V5L)

Ref Sequence

ENSEMBL: ENSMUSP00000022048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022048] [ENSMUST00000124406]

AlphaFold

Q9D687

Predicted Effect

probably benign
Transcript: ENSMUST00000022048
AA Change: V5L

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000022048
Gene: ENSMUSG00000021565
AA Change: V5L

Domain	Start	End	E-Value	Type
Pfam:SNF	32	608	2.3e-180	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124406
AA Change: V5L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000119313
Gene: ENSMUSG00000021565
AA Change: V5L

Domain	Start	End	E-Value	Type
Pfam:SNF	32	79	1.7e-18	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (52/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene result in Hartnup disorder. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight and impaired amino acid absorption and excretion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 35,873,174	A581V	possibly damaging	Het
Adam18	T	A	8: 24,652,173	M196L	probably benign	Het
Ankrd10	A	G	8: 11,628,491	S134P	probably damaging	Het
Ano8	C	T	8: 71,485,077	G47D	probably damaging	Het
Arl6ip4	T	C	5: 124,116,762	V4A	unknown	Het
Cabp4	C	T	19: 4,136,160	M247I	probably benign	Het
Ccdc30	A	T	4: 119,404,207	L11Q	probably damaging	Het
Cdkl4	A	G	17: 80,533,863	S288P	possibly damaging	Het
Celsr3	A	G	9: 108,829,863	I1182V	probably benign	Het
Dnah17	T	C	11: 118,088,202	D1788G	probably damaging	Het
Dsp	A	G	13: 38,168,725	D193G	probably damaging	Het
Dym	T	G	18: 75,056,738	Y132*	probably null	Het
Dync2h1	G	A	9: 7,141,008	Q1340*	probably null	Het
Elmo1	T	C	13: 20,274,621		probably benign	Het
Fbxw15	A	C	9: 109,555,599	F378V	possibly damaging	Het
Fsip2	G	A	2: 82,981,109	G2591R	probably damaging	Het
Gps2	C	A	11: 69,915,354	D148E	probably benign	Het
Iars2	T	C	1: 185,291,418	D772G	possibly damaging	Het
Ifit1	T	A	19: 34,647,638	L58Q	probably benign	Het
Kctd4	A	T	14: 75,962,926	Q112H	probably benign	Het
Letm1	A	G	5: 33,762,505	L230P	probably damaging	Het
Lrch4	G	T	5: 137,639,863	E136*	probably null	Het
Macc1	T	C	12: 119,443,526		probably benign	Het
Macrod1	T	C	19: 7,057,126	L79P	probably benign	Het
Map2	T	A	1: 66,414,622	N890K	probably damaging	Het
Mctp1	G	A	13: 76,641,803	S270N	probably benign	Het
Mrpl44	C	T	1: 79,777,991	R105C	probably damaging	Het
Mtg1	T	A	7: 140,137,775		probably null	Het
Mtg1	T	C	7: 140,140,223	F68L	probably benign	Het
Nfil3	A	G	13: 52,968,011	S286P	possibly damaging	Het
Nutm1	A	G	2: 112,251,322	V332A	possibly damaging	Het
Obscn	T	A	11: 59,135,966	Q137L	probably benign	Het
Pcnx2	T	G	8: 125,818,786	E1162A	probably damaging	Het
Pgr	A	G	9: 8,900,817	D117G	possibly damaging	Het
Plce1	T	C	19: 38,524,901	C215R	probably benign	Het
Rrm1	T	G	7: 102,460,351	Y461D	probably damaging	Het
Sbk3	C	T	7: 4,969,992	V60I	possibly damaging	Het
Scube1	G	T	15: 83,610,270	A852E	possibly damaging	Het
Sec24d	T	A	3: 123,343,892	I561N	probably damaging	Het
Slc16a4	T	C	3: 107,311,585	*501Q	probably null	Het
Spryd3	A	G	15: 102,133,485	I34T	possibly damaging	Het
Syne1	A	G	10: 5,316,040	L2191P	probably damaging	Het
Tbrg1	A	G	9: 37,652,659	C227R	probably damaging	Het
Tdrd6	A	G	17: 43,625,019	S1713P	probably benign	Het
Thap12	C	T	7: 98,707,076	L57F	probably benign	Het
Top1	G	A	2: 160,717,440	V628I	probably damaging	Het
Trim67	A	G	8: 124,820,335	M495V	probably null	Het
Trio	A	C	15: 27,743,951		probably benign	Het
Vmn2r23	A	T	6: 123,703,032	Y71F		Het
Ywhah	A	G	5: 33,027,191	N246S	probably benign	Het
Zcwpw1	T	C	5: 137,799,532	I125T	probably benign	Het

Other mutations in Slc6a19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02401:Slc6a19	APN	13	73700590	missense	probably damaging	1.00
IGL02425:Slc6a19	APN	13	73691800	missense	probably benign	0.00
IGL03030:Slc6a19	APN	13	73700471	missense	probably damaging	1.00
IGL03067:Slc6a19	APN	13	73689730	nonsense	probably null
IGL03216:Slc6a19	APN	13	73686181	missense	probably benign
IGL03330:Slc6a19	APN	13	73689560	missense	possibly damaging	0.95
momentum	UTSW	13	73681717	missense	probably damaging	0.98
rifling	UTSW	13	73685840	nonsense	probably null
H8562:Slc6a19	UTSW	13	73700124	intron	probably benign
R0107:Slc6a19	UTSW	13	73684057	missense	possibly damaging	0.93
R0446:Slc6a19	UTSW	13	73691695	missense	probably benign	0.01
R1422:Slc6a19	UTSW	13	73685869	missense	probably benign	0.05
R1443:Slc6a19	UTSW	13	73684344	missense	probably damaging	1.00
R1501:Slc6a19	UTSW	13	73684048	missense	probably benign	0.08
R1564:Slc6a19	UTSW	13	73686124	missense	probably damaging	1.00
R1632:Slc6a19	UTSW	13	73689908	splice site	probably null
R1832:Slc6a19	UTSW	13	73692950	missense	probably benign
R2077:Slc6a19	UTSW	13	73700566	missense	probably benign
R4418:Slc6a19	UTSW	13	73684395	missense	possibly damaging	0.93
R4486:Slc6a19	UTSW	13	73681717	missense	probably damaging	0.98
R4510:Slc6a19	UTSW	13	73683975	missense	probably damaging	1.00
R4511:Slc6a19	UTSW	13	73683975	missense	probably damaging	1.00
R4803:Slc6a19	UTSW	13	73684042	missense	possibly damaging	0.91
R4965:Slc6a19	UTSW	13	73700558	missense	probably benign	0.00
R4988:Slc6a19	UTSW	13	73685840	nonsense	probably null
R5085:Slc6a19	UTSW	13	73691753	missense	probably benign	0.11
R5533:Slc6a19	UTSW	13	73685829	missense	possibly damaging	0.67
R5851:Slc6a19	UTSW	13	73691740	missense	possibly damaging	0.55
R5874:Slc6a19	UTSW	13	73684368	missense	probably damaging	0.98
R6074:Slc6a19	UTSW	13	73689763	missense	probably benign	0.00
R6608:Slc6a19	UTSW	13	73683972	missense	probably damaging	1.00
R7275:Slc6a19	UTSW	13	73686078	missense	probably benign	0.11
R7386:Slc6a19	UTSW	13	73689891	missense	possibly damaging	0.91
R7388:Slc6a19	UTSW	13	73693084	missense	probably benign	0.30
R7393:Slc6a19	UTSW	13	73692974	missense	probably benign	0.00
R7832:Slc6a19	UTSW	13	73693063	missense	probably damaging	0.99
R7900:Slc6a19	UTSW	13	73700464	missense	probably damaging	1.00
R8220:Slc6a19	UTSW	13	73685770	missense	probably damaging	1.00
R8977:Slc6a19	UTSW	13	73682150	missense	probably benign
Z1088:Slc6a19	UTSW	13	73689730	missense	possibly damaging	0.82
Z1177:Slc6a19	UTSW	13	73684258	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- AGTGCTATAGCTTCCACCCATAC -3'
(R):5'- TAACAGTTCTGCAGGACGCG -3'

Sequencing Primer
(F):5'- CTCCATGGCTCTGGCATAGGTAG -3'
(R):5'- GCCCTGAGGATCTGCTGAC -3'

Posted On

2021-04-30