|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 7 (cationic amino acid transporter, y+ system), member 11|
|Synonyms||sut, System x|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1734 (G1)|
|Chromosomal Location||49892526-50443614 bp(-) (GRCm38)|
|Type of Mutation||nonsense|
|DNA Base Change (assembly)||G to A at 50372346 bp|
|Amino Acid Change||Glutamine to Stop codon at position 489 (Q489*)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029297 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029297] [ENSMUST00000194462]|
|Predicted Effect||probably null
AA Change: Q489*
AA Change: Q489*
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||98% (59/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a heteromeric, sodium-independent, anionic amino acid transport system that is highly specific for cysteine and glutamate. In this system, designated Xc(-), the anionic form of cysteine is transported in exchange for glutamate. This protein has been identified as the predominant mediator of Kaposi sarcoma-associated herpesvirus fusion and entry permissiveness into cells. Also, increased expression of this gene in primary gliomas (compared to normal brain tissue) was associated with increased glutamate secretion via the XCT channels, resulting in neuronal cell death. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous mutant mice show a reduction in yellow pigment resulting in dilution of agouti; only pinna hairs are affected in nonagouti mice. Mice homozygous for an ENU-induced allele exhibit decreased survival of LPS-induced macrophages and increased incidence of chemically-induced tumors. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc7a11||
(F):5'- AGCTTGCCTCACTGTATGACTTGC -3'
(R):5'- TCTCGGAAGTGCTCCGTGAAGAAG -3'
(F):5'- CATGGAGTTACCAGTAAGTTGC -3'
(R):5'- AAGGGAGCTGTGTCTTCTCAG -3'