Mutagenetix > Incidental Mutation

Incidental Mutation 'R1832:Slc6a19'

204894

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

039859-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R1832 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73827864-73848899 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73841069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 114 (I114L)

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: I114L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022048
Gene: ENSMUSG00000021565
AA Change: I114L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.6%
20x: 90.7%

Validation Efficiency

100% (82/82)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,350,509 (GRCm39)	D143V	unknown	Het
Abca8a	A	T	11: 109,962,277 (GRCm39)	N525K	probably damaging	Het
Abhd12	T	A	2: 150,690,338 (GRCm39)	D119V	probably damaging	Het
Adamts20	A	T	15: 94,184,225 (GRCm39)	M1526K	probably benign	Het
Ankdd1a	A	T	9: 65,411,771 (GRCm39)		probably null	Het
Ankrd1	C	T	19: 36,092,378 (GRCm39)	C283Y	possibly damaging	Het
Arfgef1	G	C	1: 10,275,115 (GRCm39)	I312M	probably benign	Het
Bhlhe22	G	A	3: 18,109,139 (GRCm39)	C63Y	probably damaging	Het
Bmp8a	A	T	4: 123,218,885 (GRCm39)		probably benign	Het
Ccdc148	A	T	2: 58,891,911 (GRCm39)	S235T	probably damaging	Het
Ccdc88b	G	A	19: 6,830,900 (GRCm39)	Q681*	probably null	Het
Cep104	T	A	4: 154,087,003 (GRCm39)	V842E	probably benign	Het
Chac2	T	C	11: 30,927,568 (GRCm39)	N117S	probably benign	Het
Cimap3	C	T	3: 105,921,912 (GRCm39)	E4K	possibly damaging	Het
Cldn8	T	A	16: 88,359,746 (GRCm39)	I60F	probably benign	Het
Col16a1	G	A	4: 129,970,850 (GRCm39)		probably null	Het
Col4a1	A	G	8: 11,264,644 (GRCm39)		probably benign	Het
Cyp2a4	G	T	7: 26,011,635 (GRCm39)	E285D	probably damaging	Het
Cyp4a31	G	A	4: 115,426,928 (GRCm39)	G176D	probably benign	Het
Dmxl2	A	C	9: 54,368,233 (GRCm39)	Y246D	probably damaging	Het
Dync1h1	A	G	12: 110,580,493 (GRCm39)	K118R	probably damaging	Het
Dync2i1	T	A	12: 116,171,363 (GRCm39)	S958C	probably damaging	Het
Eif3h	T	C	15: 51,728,832 (GRCm39)	T8A	possibly damaging	Het
Fbh1	G	T	2: 11,772,211 (GRCm39)	L157I	probably benign	Het
Fbxo40	C	A	16: 36,789,218 (GRCm39)	G631*	probably null	Het
Gabrb1	T	A	5: 72,279,281 (GRCm39)		probably null	Het
Galc	A	G	12: 98,200,499 (GRCm39)		probably null	Het
Garin2	G	A	12: 78,762,280 (GRCm39)		probably benign	Het
H2-Q7	C	A	17: 35,658,675 (GRCm39)	S104R	probably benign	Het
Igkv13-54-1	A	T	6: 69,594,277 (GRCm39)	M31L	probably benign	Het
Lamc2	C	T	1: 153,041,933 (GRCm39)	R67Q	possibly damaging	Het
Lcn10	A	G	2: 25,575,151 (GRCm39)	D173G	probably damaging	Het
Llgl2	G	T	11: 115,741,926 (GRCm39)	R656L	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrrc66	G	A	5: 73,764,769 (GRCm39)	S758L	possibly damaging	Het
Ly6d	T	C	15: 74,634,615 (GRCm39)	K46E	probably damaging	Het
Map3k5	A	G	10: 19,975,306 (GRCm39)	N88D	probably damaging	Het
Mertk	A	T	2: 128,604,132 (GRCm39)	E422V	probably benign	Het
Mixl1	A	G	1: 180,522,296 (GRCm39)	V195A	probably benign	Het
Nmnat3	T	C	9: 98,281,521 (GRCm39)	V41A	probably damaging	Het
Or1r1	A	T	11: 73,875,319 (GRCm39)	N38K	probably damaging	Het
Or2a7	A	G	6: 43,151,834 (GRCm39)	R305G	probably benign	Het
Or7g34	A	G	9: 19,478,492 (GRCm39)	Y63H	possibly damaging	Het
Pappa2	T	A	1: 158,684,886 (GRCm39)	E751V	probably damaging	Het
Pcsk2	A	G	2: 143,635,189 (GRCm39)	S355G	probably damaging	Het
Pdzd2	A	G	15: 12,390,134 (GRCm39)	V821A	probably damaging	Het
Plxna4	A	C	6: 32,174,761 (GRCm39)	D1109E	probably benign	Het
Ppard	A	G	17: 28,516,084 (GRCm39)	M103V	probably benign	Het
Pramel51	T	C	12: 88,145,218 (GRCm39)	E44G	possibly damaging	Het
Ralgapa1	T	C	12: 55,804,752 (GRCm39)	T515A	probably benign	Het
Rin2	A	G	2: 145,703,091 (GRCm39)	I596V	possibly damaging	Het
Rnls	A	G	19: 33,145,895 (GRCm39)	S75P	possibly damaging	Het
Rsph10b	A	T	5: 143,903,997 (GRCm39)	Y236F	possibly damaging	Het
Runx1t1	C	T	4: 13,835,628 (GRCm39)		probably benign	Het
Sardh	A	G	2: 27,125,581 (GRCm39)	V311A	possibly damaging	Het
Sbno2	G	T	10: 79,896,439 (GRCm39)	Y889*	probably null	Het
Sclt1	A	G	3: 41,681,546 (GRCm39)	V91A	probably damaging	Het
Sema4g	T	A	19: 44,987,456 (GRCm39)	V534E	probably benign	Het
Shoc1	T	G	4: 59,066,441 (GRCm39)	I768L	probably benign	Het
Slc10a1	G	A	12: 81,000,446 (GRCm39)	S351F	probably benign	Het
Slc19a3	A	T	1: 83,000,468 (GRCm39)	V183E	probably damaging	Het
Slc25a12	A	G	2: 71,164,054 (GRCm39)	Y74H	possibly damaging	Het
Smpd2	A	T	10: 41,364,232 (GRCm39)	C189S	probably benign	Het
Spon1	T	A	7: 113,616,018 (GRCm39)	V295D	probably benign	Het
Tet3	A	G	6: 83,380,627 (GRCm39)	S514P	probably benign	Het
Tnk1	T	C	11: 69,747,754 (GRCm39)	I49M	probably damaging	Het
Trim80	A	G	11: 115,337,619 (GRCm39)	T431A	probably benign	Het
Vgf	A	T	5: 137,060,153 (GRCm39)	Q105L	possibly damaging	Het
Vmn1r37	G	T	6: 66,708,780 (GRCm39)	L135F	probably benign	Het
Vps37d	C	T	5: 135,102,594 (GRCm39)	A128T	possibly damaging	Het
Wwp1	T	C	4: 19,650,197 (GRCm39)	D323G	probably benign	Het
Zfp456	T	A	13: 67,515,482 (GRCm39)	I75L	probably benign	Het
Zfp990	A	G	4: 145,264,780 (GRCm39)	I593V	possibly damaging	Het

Other mutations in Slc6a19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02401:Slc6a19	APN	13	73,848,709 (GRCm39)	missense	probably damaging	1.00
IGL02425:Slc6a19	APN	13	73,839,919 (GRCm39)	missense	probably benign	0.00
IGL03030:Slc6a19	APN	13	73,848,590 (GRCm39)	missense	probably damaging	1.00
IGL03067:Slc6a19	APN	13	73,837,849 (GRCm39)	nonsense	probably null
IGL03216:Slc6a19	APN	13	73,834,300 (GRCm39)	missense	probably benign
IGL03330:Slc6a19	APN	13	73,837,679 (GRCm39)	missense	possibly damaging	0.95
momentum	UTSW	13	73,829,836 (GRCm39)	missense	probably damaging	0.98
rifling	UTSW	13	73,833,959 (GRCm39)	nonsense	probably null
H8562:Slc6a19	UTSW	13	73,848,243 (GRCm39)	intron	probably benign
R0107:Slc6a19	UTSW	13	73,832,176 (GRCm39)	missense	possibly damaging	0.93
R0446:Slc6a19	UTSW	13	73,839,814 (GRCm39)	missense	probably benign	0.01
R1422:Slc6a19	UTSW	13	73,833,988 (GRCm39)	missense	probably benign	0.05
R1443:Slc6a19	UTSW	13	73,832,463 (GRCm39)	missense	probably damaging	1.00
R1501:Slc6a19	UTSW	13	73,832,167 (GRCm39)	missense	probably benign	0.08
R1564:Slc6a19	UTSW	13	73,834,243 (GRCm39)	missense	probably damaging	1.00
R1632:Slc6a19	UTSW	13	73,838,027 (GRCm39)	splice site	probably null
R2077:Slc6a19	UTSW	13	73,848,685 (GRCm39)	missense	probably benign
R4418:Slc6a19	UTSW	13	73,832,514 (GRCm39)	missense	possibly damaging	0.93
R4486:Slc6a19	UTSW	13	73,829,836 (GRCm39)	missense	probably damaging	0.98
R4510:Slc6a19	UTSW	13	73,832,094 (GRCm39)	missense	probably damaging	1.00
R4511:Slc6a19	UTSW	13	73,832,094 (GRCm39)	missense	probably damaging	1.00
R4803:Slc6a19	UTSW	13	73,832,161 (GRCm39)	missense	possibly damaging	0.91
R4965:Slc6a19	UTSW	13	73,848,677 (GRCm39)	missense	probably benign	0.00
R4988:Slc6a19	UTSW	13	73,833,959 (GRCm39)	nonsense	probably null
R5085:Slc6a19	UTSW	13	73,839,872 (GRCm39)	missense	probably benign	0.11
R5533:Slc6a19	UTSW	13	73,833,948 (GRCm39)	missense	possibly damaging	0.67
R5851:Slc6a19	UTSW	13	73,839,859 (GRCm39)	missense	possibly damaging	0.55
R5874:Slc6a19	UTSW	13	73,832,487 (GRCm39)	missense	probably damaging	0.98
R6074:Slc6a19	UTSW	13	73,837,882 (GRCm39)	missense	probably benign	0.00
R6608:Slc6a19	UTSW	13	73,832,091 (GRCm39)	missense	probably damaging	1.00
R7275:Slc6a19	UTSW	13	73,834,197 (GRCm39)	missense	probably benign	0.11
R7386:Slc6a19	UTSW	13	73,838,010 (GRCm39)	missense	possibly damaging	0.91
R7388:Slc6a19	UTSW	13	73,841,203 (GRCm39)	missense	probably benign	0.30
R7393:Slc6a19	UTSW	13	73,841,093 (GRCm39)	missense	probably benign	0.00
R7832:Slc6a19	UTSW	13	73,841,182 (GRCm39)	missense	probably damaging	0.99
R7900:Slc6a19	UTSW	13	73,848,583 (GRCm39)	missense	probably damaging	1.00
R8220:Slc6a19	UTSW	13	73,833,889 (GRCm39)	missense	probably damaging	1.00
R8713:Slc6a19	UTSW	13	73,848,740 (GRCm39)	missense	probably benign	0.19
R8977:Slc6a19	UTSW	13	73,830,269 (GRCm39)	missense	probably benign
R9457:Slc6a19	UTSW	13	73,829,884 (GRCm39)	missense	probably damaging	0.98
R9569:Slc6a19	UTSW	13	73,834,030 (GRCm39)	missense	probably benign	0.00
R9662:Slc6a19	UTSW	13	73,839,822 (GRCm39)	nonsense	probably null
Z1088:Slc6a19	UTSW	13	73,837,849 (GRCm39)	missense	possibly damaging	0.82
Z1177:Slc6a19	UTSW	13	73,832,377 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- AGATCTTCCTTGTGCCCTGG -3'
(R):5'- TCCTGGATTGTAATGGCATGTC -3'

Sequencing Primer
(F):5'- CCTGTCTGTTCCCTGATGACTATGAG -3'
(R):5'- GTAATGGCATGTCTTGTTTCTTCC -3'

Posted On

2014-06-23