Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03030:Slc6a19'

408362

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc6a19

Ensembl Gene

ENSMUSG00000021565

Gene Name

solute carrier family 6 (neurotransmitter transporter), member 19

Synonyms

B<0>AT1, 4632401C08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL03030

Quality Score

Status

Chromosome

Chromosomal Location

73679745-73704865 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 73700471 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 55 (V55L)

Ref Sequence

ENSEMBL: ENSMUSP00000022048 (fasta)

Gene Model

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

AlphaFold

Q9D687

Predicted Effect

probably damaging
Transcript: ENSMUST00000022048
AA Change: V55L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022048
Gene: ENSMUSG00000021565
AA Change: V55L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000022049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123997

Predicted Effect

probably damaging
Transcript: ENSMUST00000124406
AA Change: V55L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119313
Gene: ENSMUSG00000021565
AA Change: V55L

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: ENSMUST00000160958

Coding Region Coverage

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	A	G	12: 55,304,644	D246G	probably damaging	Het
4930452B06Rik	A	G	14: 8,511,113	S434P	probably damaging	Het
4931406B18Rik	A	G	7: 43,495,633	V367A	possibly damaging	Het
Abcb5	A	T	12: 118,940,369	S200R	possibly damaging	Het
Adam29	T	C	8: 55,873,065	D118G	probably damaging	Het
Adh4	A	G	3: 138,429,145	D360G	probably benign	Het
Ankle2	A	G	5: 110,251,610	Q611R	possibly damaging	Het
Ankra2	C	T	13: 98,273,373		probably benign	Het
Ap1g2	T	A	14: 55,106,047	I28F	probably damaging	Het
Baz2a	C	T	10: 128,125,146	T1608I	possibly damaging	Het
C530008M17Rik	A	G	5: 76,857,616	D608G	unknown	Het
Cacnb4	T	C	2: 52,474,882	D123G	probably damaging	Het
Cage1	G	A	13: 38,028,147	T51M	probably benign	Het
Ccdc63	A	G	5: 122,122,813	V216A	probably benign	Het
Ccnd2	A	G	6: 127,148,878	V65A	probably damaging	Het
Chd3	T	A	11: 69,354,404	T1163S	possibly damaging	Het
Cmbl	A	G	15: 31,589,677		probably benign	Het
Cobl	G	T	11: 12,254,241	N813K	possibly damaging	Het
Cog5	G	A	12: 31,790,922	V249M	probably damaging	Het
Cps1	A	G	1: 67,142,921	N98S	probably damaging	Het
D630045J12Rik	A	T	6: 38,149,713	I1454N	probably damaging	Het
Elmo2	A	G	2: 165,294,317	V603A	possibly damaging	Het
F12	A	G	13: 55,421,519		probably benign	Het
Ficd	G	A	5: 113,736,929	V20I	probably benign	Het
Gatad2b	G	T	3: 90,341,937	G94V	probably benign	Het
Gm4845	G	A	1: 141,256,665		noncoding transcript	Het
Hrnr	G	A	3: 93,320,601	V9I	possibly damaging	Het
Kifc3	A	G	8: 95,102,412	S584P	probably damaging	Het
Klk1b24	C	A	7: 44,191,366	Q73K	probably benign	Het
Lrp10	C	A	14: 54,469,162	N518K	possibly damaging	Het
Lsr	A	G	7: 30,959,281	V247A	possibly damaging	Het
Mfsd6	A	T	1: 52,709,703	M1K	probably null	Het
Mprip	T	A	11: 59,741,115		probably null	Het
Myo3b	G	T	2: 70,426,816		probably benign	Het
Olfr1019	T	C	2: 85,841,072	T240A	probably damaging	Het
Olfr123	T	A	17: 37,796,271	Y276N	probably damaging	Het
Olfr1463	C	T	19: 13,235,054	S268L	probably damaging	Het
Olfr32	A	T	2: 90,138,662	I159N	possibly damaging	Het
Olfr365	T	C	2: 37,201,871	V210A	probably benign	Het
Oprd1	A	G	4: 132,117,385	F104S	possibly damaging	Het
Palb2	A	G	7: 122,113,256	V591A	probably damaging	Het
Pcdhb18	A	T	18: 37,490,733	D372V	probably damaging	Het
Phc3	A	G	3: 30,936,853	V405A	probably damaging	Het
Phf20l1	A	T	15: 66,641,947		probably benign	Het
Pik3ip1	A	G	11: 3,333,259	K57E	possibly damaging	Het
Pkhd1l1	T	C	15: 44,596,902	V4169A	probably benign	Het
Pkhd1l1	G	A	15: 44,591,976	M4044I	probably benign	Het
Pklr	A	T	3: 89,142,656	I313F	probably damaging	Het
Plxna4	T	A	6: 32,202,225	T952S	probably benign	Het
Pop4	A	T	7: 38,263,306	I178N	probably damaging	Het
Prss40	A	C	1: 34,558,101	V122G	probably damaging	Het
Rapgef2	C	A	3: 79,074,307		probably null	Het
Rbm19	A	G	5: 120,131,246	D538G	probably damaging	Het
Rnf44	G	A	13: 54,681,990	R312*	probably null	Het
Rock1	T	C	18: 10,070,215		probably benign	Het
Rrp1b	A	G	17: 32,056,901	E474G	probably damaging	Het
Ryr2	T	A	13: 11,684,479	I2959F	probably damaging	Het
Sidt2	A	G	9: 45,939,505	S801P	probably damaging	Het
Skint6	T	C	4: 113,012,956	I602V	probably benign	Het
Smarca4	C	T	9: 21,635,836	T219I	probably benign	Het
Trappc11	C	A	8: 47,513,929	V440F	probably damaging	Het
Vmn1r236	G	A	17: 21,286,846	W75*	probably null	Het
Vmn2r52	A	G	7: 10,158,872	F780S	probably benign	Het
Vmn2r82	G	T	10: 79,381,315	A494S	possibly damaging	Het
Vwa3b	A	T	1: 37,044,968	K74M	probably damaging	Het
Wrn	T	A	8: 33,248,961	I1037F	possibly damaging	Het
Zfp13	T	C	17: 23,580,845	T82A	probably benign	Het
Zfp82	T	C	7: 30,057,465	E64G	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
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
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

Posted On

2016-08-02