Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00644:Slc6a14'

14117

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 #

IGL00644

Quality Score

Status

Chromosome

Chromosomal Location

21581139-21608597 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21605895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 588 (I588K)

Ref Sequence

ENSEMBL: ENSMUSP00000033414 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033414] [ENSMUST00000189511]

AlphaFold

Q9JMA9

Predicted Effect

probably benign
Transcript: ENSMUST00000033414
AA Change: I588K

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000033414
Gene: ENSMUSG00000031089
AA Change: I588K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000189511

SMART Domains

Protein: ENSMUSP00000141034
Gene: ENSMUSG00000101818

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC

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: 7 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cabcoco1	C	T	10: 68,369,730 (GRCm39)	E38K	probably benign	Het
Limch1	G	T	5: 67,173,895 (GRCm39)	A375S	probably benign	Het
Lman1	G	A	18: 66,130,693 (GRCm39)	Q165*	probably null	Het
Lrrc7	G	A	3: 157,908,005 (GRCm39)	Q260*	probably null	Het
Pdzph1	T	C	17: 59,195,105 (GRCm39)	D10G	probably benign	Het
Secisbp2l	G	A	2: 125,585,764 (GRCm39)	P863S	probably damaging	Het
Txnrd1	T	A	10: 82,721,010 (GRCm39)		probably benign	Het

Other mutations in Slc6a14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Slc6a14	APN	X	21,600,363 (GRCm39)	splice site	probably benign
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

2012-12-06