Mutagenetix > Incidental Mutation

Incidental Mutation 'R9457:Slc6a19'

714676

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R9457 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73679745-73704865 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73681765 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 590 (A590V)

Ref Sequence

ENSEMBL: ENSMUSP00000022048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022048] [ENSMUST00000022105] [ENSMUST00000109679] [ENSMUST00000109680] [ENSMUST00000220650] [ENSMUST00000221026] [ENSMUST00000221987] [ENSMUST00000222029] [ENSMUST00000223026] [ENSMUST00000223074]

AlphaFold

Q9D687

Predicted Effect

probably damaging
Transcript: ENSMUST00000022048
AA Change: A590V

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022048
Gene: ENSMUSG00000021565
AA Change: A590V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000022105

SMART Domains

Protein: ENSMUSP00000022105
Gene: ENSMUSG00000021612

Domain	Start	End	E-Value	Type
Pfam:SNF	17	593	2.1e-182	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109679

SMART Domains

Protein: ENSMUSP00000105301
Gene: ENSMUSG00000021612

Domain	Start	End	E-Value	Type
Pfam:SNF	17	511	6.8e-164	PFAM
low complexity region	513	526	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109680

SMART Domains

Protein: ENSMUSP00000105302
Gene: ENSMUSG00000021612

Domain	Start	End	E-Value	Type
Pfam:SNF	17	325	2.1e-126	PFAM
Pfam:SNF	392	555	9.1e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000220650

Predicted Effect

probably benign
Transcript: ENSMUST00000221026

Predicted Effect

probably benign
Transcript: ENSMUST00000221987

Predicted Effect

probably benign
Transcript: ENSMUST00000222029

Predicted Effect

probably benign
Transcript: ENSMUST00000223026

Predicted Effect

probably benign
Transcript: ENSMUST00000223074

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	A	G	18: 12,179,246	H181R	probably benign	Het
4930404N11Rik	C	A	10: 81,365,777	V4L	probably benign	Het
4930430A15Rik	A	T	2: 111,170,286	M196K	unknown	Het
4932415D10Rik	A	G	10: 82,286,739	V3479A	probably benign	Het
A930009A15Rik	T	C	10: 115,578,331	L54P	unknown	Het
Ablim3	A	G	18: 61,845,849	S204P	probably benign	Het
Acadl	A	G	1: 66,853,241	V141A	probably benign	Het
Ace3	A	G	11: 105,994,861	D31G	probably benign	Het
Adam11	T	G	11: 102,769,898	V85G	probably benign	Het
Adarb1	A	T	10: 77,322,148	M155K	possibly damaging	Het
Arhgap10	G	A	8: 77,384,786	T376M	probably benign	Het
Bod1l	G	T	5: 41,821,967	T668K	probably damaging	Het
Ccdc87	A	G	19: 4,841,631	E717G	probably damaging	Het
Cdh17	T	A	4: 11,771,329	I37N	probably damaging	Het
Cfap99	T	G	5: 34,301,397	F45L	probably benign	Het
Chsy1	C	A	7: 66,172,400	H794Q	probably benign	Het
Clec4a3	G	A	6: 122,954,086	V45I	probably benign	Het
Clic3	G	A	2: 25,457,718	V32I	probably benign	Het
Clip2	A	T	5: 134,502,730	D740E	probably benign	Het
Col5a2	C	T	1: 45,386,844	V1062I	probably benign	Het
Col5a2	A	G	1: 45,392,813		probably null	Het
Cyp2j11	C	T	4: 96,307,359	V367I	probably damaging	Het
Ddr1	C	T	17: 35,682,758	A821T	possibly damaging	Het
Dna2	G	A	10: 62,950,793	E107K	probably benign	Het
Eif3d	A	G	15: 77,959,694	V484A	probably benign	Het
Fgfr4	A	G	13: 55,161,127	T354A	probably benign	Het
Fkbp6	T	C	5: 135,349,632	D54G	probably benign	Het
Gm4787	T	A	12: 81,379,246	E46V	probably damaging	Het
Gm47995	A	G	1: 151,198,475	T10A	possibly damaging	Het
Gm498	T	C	7: 143,883,976	V137A	possibly damaging	Het
Gnb1l	T	A	16: 18,540,995	I50N	probably damaging	Het
Gphb5	A	T	12: 75,415,749	V22D	probably damaging	Het
Gstt4	C	T	10: 75,815,125	C221Y	probably benign	Het
Hmces	T	C	6: 87,933,274	V222A	possibly damaging	Het
Kat14	T	A	2: 144,373,782	D62E	probably benign	Het
Kcnmb2	T	A	3: 32,181,869	V89E	probably benign	Het
Kif23	T	A	9: 61,944,225	N63I	probably benign	Het
Lamc2	T	C	1: 153,139,854	M578V	probably benign	Het
Ltbp2	A	T	12: 84,789,153	C1335S	probably benign	Het
Lyst	A	G	13: 13,687,745	E2622G	possibly damaging	Het
Mctp1	A	T	13: 76,384,674	H47L	probably benign	Het
Micalcl	A	G	7: 112,411,458	K618R	probably damaging	Het
Mllt6	T	C	11: 97,665,760	I92T	probably benign	Het
Morc2a	A	G	11: 3,676,184	I223V	probably benign	Het
Msh3	A	T	13: 92,345,086	I306N	probably benign	Het
Myo3b	T	A	2: 70,095,209	S35T	probably benign	Het
Nfkbiz	A	T	16: 55,813,984	V700E	probably damaging	Het
Oit3	T	A	10: 59,441,683	M1L	unknown	Het
Olfr1048	A	T	2: 86,236,472	I114K	probably damaging	Het
Olfr1231	A	T	2: 89,302,731	I287N	probably damaging	Het
Olfr606	T	A	7: 103,451,411	F25I	probably benign	Het
Peg3	T	G	7: 6,707,999	D1408A	probably damaging	Het
Plaa	A	C	4: 94,586,883	S201R	possibly damaging	Het
Psmd5	A	G	2: 34,854,326	S395P	probably benign	Het
Ralgapa2	T	C	2: 146,334,554	I1701V	probably damaging	Het
Rnf32	G	A	5: 29,206,186	A157T	probably damaging	Het
Rrad	T	A	8: 104,629,727		probably null	Het
Samm50	T	A	15: 84,207,841	L339Q	probably damaging	Het
Scin	T	C	12: 40,104,958	E212G	possibly damaging	Het
Scrib	T	C	15: 76,067,299	D146G	probably damaging	Het
Slc19a1	G	A	10: 77,049,771	D502N	probably benign	Het
Slc4a4	T	C	5: 89,214,573	S839P	probably damaging	Het
Slc4a8	A	G	15: 100,806,260	D764G	probably damaging	Het
Slfn8	G	T	11: 83,017,706	H4N	probably benign	Het
Smad9	T	A	3: 54,789,335	F274I	possibly damaging	Het
Snx4	A	G	16: 33,286,010	E271G	probably benign	Het
Thap4	G	A	1: 93,750,306	R253*	probably null	Het
Tmem65	T	A	15: 58,790,179	I144F		Het
Tnrc6a	G	A	7: 123,179,735	R1223Q	probably benign	Het
Traf7	CA	CAA	17: 24,527,763		probably benign	Het
Trpm2	T	C	10: 77,911,392	Y1424C	possibly damaging	Het
Trrap	T	A	5: 144,826,668	Y2457N	probably damaging	Het
Vmn1r7	A	G	6: 57,024,523	S251P	probably damaging	Het
Vmn2r89	A	T	14: 51,456,012	E273V	probably damaging	Het
Vps52	A	G	17: 33,962,182	D466G	probably damaging	Het
Xirp2	T	C	2: 67,515,632	V2739A	probably benign	Het
Zc3h4	C	T	7: 16,434,750	S1003F	unknown	Het
Zyg11a	A	T	4: 108,217,905	H6Q	probably damaging	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
R8713:Slc6a19	UTSW	13	73700621	missense	probably benign	0.19
R8977:Slc6a19	UTSW	13	73682150	missense	probably benign
R9569:Slc6a19	UTSW	13	73685911	missense	probably benign	0.00
R9662:Slc6a19	UTSW	13	73691703	nonsense	probably null
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'- CCATGGGTCCTGCATCTTGC -3'
(R):5'- GTGAGTGCCCAGACAGTGTC -3'

Sequencing Primer
(F):5'- GCATCTTGCTTCCTCCACACAC -3'
(R):5'- TCTGGATGGGGAGAAAGAACTGTTG -3'

Posted On

2022-06-15