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

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R9457 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73827864-73848899 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73829884 bp (GRCm39)

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
A930009A15Rik	T	C	10: 115,414,236 (GRCm39)	L54P	unknown	Het
Ablim3	A	G	18: 61,978,920 (GRCm39)	S204P	probably benign	Het
Acadl	A	G	1: 66,892,400 (GRCm39)	V141A	probably benign	Het
Ace3	A	G	11: 105,885,687 (GRCm39)	D31G	probably benign	Het
Acte1	T	C	7: 143,437,713 (GRCm39)	V137A	possibly damaging	Het
Adam11	T	G	11: 102,660,724 (GRCm39)	V85G	probably benign	Het
Adarb1	A	T	10: 77,157,982 (GRCm39)	M155K	possibly damaging	Het
Arhgap10	G	A	8: 78,111,415 (GRCm39)	T376M	probably benign	Het
Bod1l	G	T	5: 41,979,310 (GRCm39)	T668K	probably damaging	Het
Ccdc87	A	G	19: 4,891,659 (GRCm39)	E717G	probably damaging	Het
Cdh17	T	A	4: 11,771,329 (GRCm39)	I37N	probably damaging	Het
Cfap99	T	G	5: 34,458,741 (GRCm39)	F45L	probably benign	Het
Chsy1	C	A	7: 65,822,148 (GRCm39)	H794Q	probably benign	Het
Clec4a3	G	A	6: 122,931,045 (GRCm39)	V45I	probably benign	Het
Clic3	G	A	2: 25,347,730 (GRCm39)	V32I	probably benign	Het
Clip2	A	T	5: 134,531,584 (GRCm39)	D740E	probably benign	Het
Col5a2	C	T	1: 45,426,004 (GRCm39)	V1062I	probably benign	Het
Col5a2	A	G	1: 45,431,973 (GRCm39)		probably null	Het
Cyp2j11	C	T	4: 96,195,596 (GRCm39)	V367I	probably damaging	Het
Ddr1	C	T	17: 35,993,650 (GRCm39)	A821T	possibly damaging	Het
Dna2	G	A	10: 62,786,572 (GRCm39)	E107K	probably benign	Het
Eif3d	A	G	15: 77,843,894 (GRCm39)	V484A	probably benign	Het
Fgfr4	A	G	13: 55,308,940 (GRCm39)	T354A	probably benign	Het
Fkbp6	T	C	5: 135,378,486 (GRCm39)	D54G	probably benign	Het
Gm4787	T	A	12: 81,426,020 (GRCm39)	E46V	probably damaging	Het
Gm47995	A	G	1: 151,074,226 (GRCm39)	T10A	possibly damaging	Het
Gnb1l	T	A	16: 18,359,745 (GRCm39)	I50N	probably damaging	Het
Gphb5	A	T	12: 75,462,523 (GRCm39)	V22D	probably damaging	Het
Gstt4	C	T	10: 75,650,959 (GRCm39)	C221Y	probably benign	Het
Hmces	T	C	6: 87,910,256 (GRCm39)	V222A	possibly damaging	Het
Kat14	T	A	2: 144,215,702 (GRCm39)	D62E	probably benign	Het
Kcnmb2	T	A	3: 32,236,018 (GRCm39)	V89E	probably benign	Het
Kif23	T	A	9: 61,851,507 (GRCm39)	N63I	probably benign	Het
Lamc2	T	C	1: 153,015,600 (GRCm39)	M578V	probably benign	Het
Ltbp2	A	T	12: 84,835,927 (GRCm39)	C1335S	probably benign	Het
Lyst	A	G	13: 13,862,330 (GRCm39)	E2622G	possibly damaging	Het
Mctp1	A	T	13: 76,532,793 (GRCm39)	H47L	probably benign	Het
Mical2	A	G	7: 112,010,665 (GRCm39)	K618R	probably damaging	Het
Mllt6	T	C	11: 97,556,586 (GRCm39)	I92T	probably benign	Het
Morc2a	A	G	11: 3,626,184 (GRCm39)	I223V	probably benign	Het
Msh3	A	T	13: 92,481,594 (GRCm39)	I306N	probably benign	Het
Myo3b	T	A	2: 69,925,553 (GRCm39)	S35T	probably benign	Het
Nfkbiz	A	T	16: 55,634,347 (GRCm39)	V700E	probably damaging	Het
Oit3	T	A	10: 59,277,505 (GRCm39)	M1L	unknown	Het
Or4c1	A	T	2: 89,133,075 (GRCm39)	I287N	probably damaging	Het
Or51l14	T	A	7: 103,100,618 (GRCm39)	F25I	probably benign	Het
Or8k17	A	T	2: 86,066,816 (GRCm39)	I114K	probably damaging	Het
Peg3	T	G	7: 6,710,998 (GRCm39)	D1408A	probably damaging	Het
Plaa	A	C	4: 94,475,120 (GRCm39)	S201R	possibly damaging	Het
Potefam1	A	T	2: 111,000,631 (GRCm39)	M196K	unknown	Het
Psmd5	A	G	2: 34,744,338 (GRCm39)	S395P	probably benign	Het
Ralgapa2	T	C	2: 146,176,474 (GRCm39)	I1701V	probably damaging	Het
Rmc1	A	G	18: 12,312,303 (GRCm39)	H181R	probably benign	Het
Rnf32	G	A	5: 29,411,184 (GRCm39)	A157T	probably damaging	Het
Rrad	T	A	8: 105,356,359 (GRCm39)		probably null	Het
Samm50	T	A	15: 84,092,042 (GRCm39)	L339Q	probably damaging	Het
Scin	T	C	12: 40,154,957 (GRCm39)	E212G	possibly damaging	Het
Scrib	T	C	15: 75,939,148 (GRCm39)	D146G	probably damaging	Het
Slc19a1	G	A	10: 76,885,605 (GRCm39)	D502N	probably benign	Het
Slc4a4	T	C	5: 89,362,432 (GRCm39)	S839P	probably damaging	Het
Slc4a8	A	G	15: 100,704,141 (GRCm39)	D764G	probably damaging	Het
Slfn8	G	T	11: 82,908,532 (GRCm39)	H4N	probably benign	Het
Smad9	T	A	3: 54,696,756 (GRCm39)	F274I	possibly damaging	Het
Snx4	A	G	16: 33,106,380 (GRCm39)	E271G	probably benign	Het
Spata31h1	A	G	10: 82,122,573 (GRCm39)	V3479A	probably benign	Het
Tektip1	C	A	10: 81,201,611 (GRCm39)	V4L	probably benign	Het
Thap4	G	A	1: 93,678,028 (GRCm39)	R253*	probably null	Het
Tmem65	T	A	15: 58,662,028 (GRCm39)	I144F		Het
Tnrc6a	G	A	7: 122,778,958 (GRCm39)	R1223Q	probably benign	Het
Traf7	CA	CAA	17: 24,746,737 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,747,226 (GRCm39)	Y1424C	possibly damaging	Het
Trrap	T	A	5: 144,763,478 (GRCm39)	Y2457N	probably damaging	Het
Vmn1r7	A	G	6: 57,001,508 (GRCm39)	S251P	probably damaging	Het
Vmn2r89	A	T	14: 51,693,469 (GRCm39)	E273V	probably damaging	Het
Vps52	A	G	17: 34,181,156 (GRCm39)	D466G	probably damaging	Het
Xirp2	T	C	2: 67,345,976 (GRCm39)	V2739A	probably benign	Het
Zc3h4	C	T	7: 16,168,675 (GRCm39)	S1003F	unknown	Het
Zyg11a	A	T	4: 108,075,102 (GRCm39)	H6Q	probably 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
R1832:Slc6a19	UTSW	13	73,841,069 (GRCm39)	missense	probably benign
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
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'- CCATGGGTCCTGCATCTTGC -3'
(R):5'- GTGAGTGCCCAGACAGTGTC -3'

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

Posted On

2022-06-15