Mutagenetix > Incidental Mutation

Incidental Mutation 'R0446:Slc6a19'

39401

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

038647-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R0446 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73679745-73704865 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73691695 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 156 (N156S)

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: N156S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000022048
Gene: ENSMUSG00000021565
AA Change: N156S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120322

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123997

Predicted Effect

probably benign
Transcript: ENSMUST00000124406

SMART Domains

Protein: ENSMUSP00000119313
Gene: ENSMUSG00000021565

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140878

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	G	A	2: 91,304,764	T20I	possibly damaging	Het
4930435E12Rik	G	A	16: 38,828,702	T15I	probably benign	Het
4933434E20Rik	A	G	3: 90,064,459	T42A	probably benign	Het
Actr3b	T	A	5: 25,831,732	I181K	probably damaging	Het
Avl9	G	T	6: 56,736,483	R242L	probably benign	Het
B3galt4	T	C	17: 33,951,018	E82G	probably benign	Het
Bag1	G	A	4: 40,936,609	T349I	probably benign	Het
Brip1	A	T	11: 86,157,601	L305Q	probably damaging	Het
Cdipt	A	G	7: 126,978,264	T61A	probably damaging	Het
Cmya5	T	A	13: 93,093,656	R1641S	probably benign	Het
Cog7	T	C	7: 121,937,072	D515G	probably benign	Het
Cpsf4	T	A	5: 145,177,244	L171Q	probably damaging	Het
Cuzd1	A	T	7: 131,316,280		probably null	Het
Dapk1	T	A	13: 60,725,287		probably null	Het
Diaph1	A	G	18: 37,853,590	V1114A	possibly damaging	Het
Emx2	A	T	19: 59,463,916	K211*	probably null	Het
Fam160b1	G	A	19: 57,381,407	D461N	probably benign	Het
Fam170a	T	A	18: 50,280,632	C55S	possibly damaging	Het
Fbxw26	A	G	9: 109,743,720	S119P	probably benign	Het
Fryl	G	A	5: 73,097,417	T894M	possibly damaging	Het
Gad1-ps	C	A	10: 99,445,521		noncoding transcript	Het
Gm14124	A	G	2: 150,268,073	T228A	possibly damaging	Het
Gss	T	C	2: 155,567,745	E257G	probably benign	Het
Klhdc1	A	C	12: 69,283,308	S404R	probably benign	Het
Kmt2e	T	A	5: 23,497,534		probably null	Het
Krt20	G	A	11: 99,437,776	Q108*	probably null	Het
Lmnb1	T	A	18: 56,743,259	S480T	probably benign	Het
Lyst	T	A	13: 13,638,048	M1015K	probably benign	Het
Mdm1	T	G	10: 118,152,056	S290A	probably benign	Het
Mkln1	T	A	6: 31,449,504	F238I	probably damaging	Het
Mrgprb3	A	G	7: 48,643,236	V189A	probably benign	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Neurod6	C	T	6: 55,679,629	E8K	probably benign	Het
Nlrp12	T	C	7: 3,234,029	I747V	probably benign	Het
Notch4	C	T	17: 34,565,363	R43W	possibly damaging	Het
Obscn	A	T	11: 58,995,412		probably benign	Het
Olfr1153	T	C	2: 87,896,855	Y219H	possibly damaging	Het
Olfr1346	T	C	7: 6,475,025	V305A	probably benign	Het
Olfr480	A	T	7: 108,066,725	Y24*	probably null	Het
Olfr522	A	T	7: 140,162,471	S160T	probably damaging	Het
Olfr920	G	T	9: 38,755,818	L43F	probably damaging	Het
Olfr958	A	T	9: 39,550,451	I140N	probably damaging	Het
Orc5	C	T	5: 22,546,457	V85I	probably benign	Het
Pccb	T	C	9: 100,982,797	D468G	probably damaging	Het
Pdzd2	A	T	15: 12,375,024	V1675E	probably benign	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Pltp	A	T	2: 164,854,400	N97K	probably damaging	Het
Polr1a	T	C	6: 71,950,664		probably null	Het
Prss42	G	A	9: 110,799,273	V162I	possibly damaging	Het
Rbfox2	A	T	15: 77,099,255	Y269N	probably damaging	Het
Rftn2	A	T	1: 55,214,195	I83K	probably damaging	Het
S1pr4	A	T	10: 81,498,989	I217N	probably damaging	Het
Slc23a2	T	C	2: 132,078,433	K184R	probably benign	Het
Svep1	C	T	4: 58,088,280	G1723D	probably damaging	Het
Tbc1d32	T	A	10: 56,192,898	H358L	possibly damaging	Het
Tigit	G	T	16: 43,662,271	N33K	probably damaging	Het
Tmem25	T	C	9: 44,796,581	Y139C	probably damaging	Het
Trmt13	G	A	3: 116,582,626	T372M	probably damaging	Het
Ubr2	A	T	17: 46,983,298	M303K	probably damaging	Het
Usp34	A	G	11: 23,467,207	E2952G	probably damaging	Het
Zan	T	A	5: 137,391,658	I4851F	unknown	Het
Zfand4	C	T	6: 116,288,054	T160I	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
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
R9457:Slc6a19	UTSW	13	73681765	missense	probably damaging	0.98
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'- TGTGTGCCTGCATCTGCATCTG -3'
(R):5'- GAGATACCAGTACGCCTTGCACAG -3'

Sequencing Primer
(F):5'- tccccctgtctctgtcttc -3'
(R):5'- GCCTTGCACAGTGCCATC -3'

Posted On

2013-05-23