Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00435:Slc6a14'

3140

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc6a14

Ensembl Gene

ENSMUSG00000031089

Gene Name

solute carrier family 6 (neurotransmitter transporter), member 14

Synonyms

9030613J17Rik, CATB0plus, 1110007A17Rik, ATB0plus

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

IGL00435

Quality Score

Status

Chromosome

Chromosomal Location

21581139-21608597 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 21600363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000033414 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033414]

AlphaFold

Q9JMA9

Predicted Effect

probably benign
Transcript: ENSMUST00000033414

SMART Domains

Protein: ENSMUSP00000033414
Gene: ENSMUSG00000031089

Domain	Start	End	E-Value	Type
Pfam:SNF	36	584	5.2e-198	PFAM

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 member of the solute carrier family 6. Members of this family are sodium and chloride dependent neurotransmitter transporters. The encoded protein transports both neutral and cationic amino acids. This protein may also function as a beta-alanine carrier. Mutations in this gene may be associated with X-linked obesity. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, May 2010]
PHENOTYPE: Mice hemizygous or homozygous for a null allele are viable, fertile and overtly normal. Homozygous females show normal plasma amino acid levels and mammary gland development but exhibit delayed development and reduced growth of mammary tumors in spontaneous mouse models of breast cancer. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap28	A	T	17: 68,152,796 (GRCm39)	D657E	probably damaging	Het
Cd200l1	A	T	16: 45,264,483 (GRCm39)	L25Q	probably damaging	Het
Cd68	T	C	11: 69,556,676 (GRCm39)	T44A	probably damaging	Het
Cecr2	C	T	6: 120,733,678 (GRCm39)	T555M	probably damaging	Het
Cep170b	A	G	12: 112,701,628 (GRCm39)	Q169R	probably damaging	Het
Cs	T	C	10: 128,195,912 (GRCm39)	F374L	probably damaging	Het
Dpy19l1	T	C	9: 24,393,226 (GRCm39)	E181G	probably damaging	Het
Efcab12	T	C	6: 115,800,625 (GRCm39)	T133A	probably benign	Het
Esr2	G	A	12: 76,180,653 (GRCm39)	R423W	probably damaging	Het
Eya4	T	C	10: 23,034,995 (GRCm39)	Y120C	probably benign	Het
Fbxw8	A	G	5: 118,206,202 (GRCm39)	M582T	probably benign	Het
Fcgbpl1	A	T	7: 27,863,953 (GRCm39)	D2575V	probably damaging	Het
Ghsr	A	G	3: 27,426,532 (GRCm39)	E196G	possibly damaging	Het
Gm10024	G	A	10: 77,547,295 (GRCm39)		probably benign	Het
Gpr65	A	G	12: 98,241,815 (GRCm39)	E156G	probably damaging	Het
Gtf3c3	T	C	1: 54,466,694 (GRCm39)	Y249C	possibly damaging	Het
H2-T23	G	A	17: 36,342,673 (GRCm39)	A155V	probably damaging	Het
Hadha	A	G	5: 30,327,171 (GRCm39)	S556P	probably benign	Het
Hdac7	T	A	15: 97,707,376 (GRCm39)	K187N	probably damaging	Het
Inpp5j	T	C	11: 3,452,255 (GRCm39)	I332V	probably benign	Het
Kank1	A	G	19: 25,407,600 (GRCm39)	D1198G	probably benign	Het
Kdr	A	G	5: 76,129,410 (GRCm39)	L159P	probably damaging	Het
Me2	T	C	18: 73,903,713 (GRCm39)	E585G	probably benign	Het
Nfu1	A	T	6: 86,992,577 (GRCm39)	T64S	probably damaging	Het
Nsd3	A	G	8: 26,166,728 (GRCm39)	D632G	probably benign	Het
Pcna	T	C	2: 132,093,852 (GRCm39)	D97G	probably benign	Het
Pgm2	A	G	5: 64,265,612 (GRCm39)		probably benign	Het
Phactr1	C	A	13: 43,110,122 (GRCm39)	R2S	probably damaging	Het
Psmd11	T	A	11: 80,361,210 (GRCm39)	I347N	possibly damaging	Het
Rad21l	T	C	2: 151,495,436 (GRCm39)	T416A	probably benign	Het
Ruvbl2	A	T	7: 45,074,596 (GRCm39)	S181T	probably benign	Het
Rxrb	A	G	17: 34,253,049 (GRCm39)	T109A	probably damaging	Het
Ryr3	T	A	2: 112,490,494 (GRCm39)	Y3785F	probably damaging	Het
Sec16a	T	C	2: 26,320,113 (GRCm39)	T1442A	probably benign	Het
Slco2b1	G	A	7: 99,309,259 (GRCm39)	Q691*	probably null	Het
Tent5c	A	G	3: 100,380,672 (GRCm39)	V28A	probably damaging	Het
Them5	A	G	3: 94,253,496 (GRCm39)	T169A	possibly damaging	Het
Trav13-2	T	C	14: 53,872,688 (GRCm39)	F55L	possibly damaging	Het
Tst	A	T	15: 78,289,661 (GRCm39)	S125T	probably damaging	Het
Ttn	T	C	2: 76,630,868 (GRCm39)	T14179A	probably benign	Het
Vps37b	A	G	5: 124,148,850 (GRCm39)	Y62H	probably damaging	Het

Other mutations in Slc6a14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00644:Slc6a14	APN	X	21,605,895 (GRCm39)	missense	probably benign	0.24
R1296:Slc6a14	UTSW	X	21,587,807 (GRCm39)	missense	probably benign	0.04
R1819:Slc6a14	UTSW	X	21,607,286 (GRCm39)	missense	probably benign	0.00

Posted On

2012-04-20