Incidental Mutation 'R4479:Slc7a11'
ID 331389
Institutional Source Beutler Lab
Gene Symbol Slc7a11
Ensembl Gene ENSMUSG00000027737
Gene Name solute carrier family 7 (cationic amino acid transporter, y+ system), member 11
Synonyms sut, System x, x, xCT, 9930009M05Rik
MMRRC Submission 041736-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4479 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 50319385-50403947 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 50372412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029297] [ENSMUST00000194462]
AlphaFold Q9WTR6
Predicted Effect probably benign
Transcript: ENSMUST00000029297
SMART Domains Protein: ENSMUSP00000029297
Gene: ENSMUSG00000027737

Pfam:AA_permease_2 44 469 3.3e-61 PFAM
Pfam:AA_permease 49 478 1.1e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142932
Predicted Effect probably benign
Transcript: ENSMUST00000194462
SMART Domains Protein: ENSMUSP00000141988
Gene: ENSMUSG00000027737

Pfam:AA_permease_2 44 469 1.1e-60 PFAM
Pfam:AA_permease 49 479 2e-32 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 95% (36/38)
MGI Phenotype 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
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,654,663 (GRCm39) T553A possibly damaging Het
Adamts20 C T 15: 94,301,326 (GRCm39) R66H probably damaging Het
Anks1b A G 10: 89,885,754 (GRCm39) E150G probably damaging Het
Chp2 A G 7: 121,820,141 (GRCm39) D97G probably benign Het
Cnbd2 T C 2: 156,175,573 (GRCm39) probably benign Het
D130040H23Rik C A 8: 69,755,155 (GRCm39) H187N possibly damaging Het
Dusp15 A G 2: 152,786,102 (GRCm39) L135P probably damaging Het
Eif4g1 G T 16: 20,497,593 (GRCm39) probably benign Het
Erlin2 G T 8: 27,515,127 (GRCm39) V10L probably benign Het
F830104G03Rik A G 3: 56,797,634 (GRCm39) S98P unknown Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Gm3159 T C 14: 4,398,584 (GRCm38) Y92H probably damaging Het
Ighv1-22 G T 12: 114,710,283 (GRCm39) A15E possibly damaging Het
Ints4 T C 7: 97,134,178 (GRCm39) S37P probably damaging Het
Irs1 G A 1: 82,265,015 (GRCm39) T1067I probably damaging Het
Lrrc28 C T 7: 67,181,362 (GRCm39) probably null Het
Or10v1 A G 19: 11,873,922 (GRCm39) Y179C probably damaging Het
Or4a71 A G 2: 89,358,514 (GRCm39) I80T possibly damaging Het
Or5ac24 G A 16: 59,165,230 (GRCm39) T278I probably damaging Het
Psg18 C T 7: 18,084,787 (GRCm39) S103N probably benign Het
Psma3 T C 12: 71,031,555 (GRCm39) probably benign Het
Tas2r115 T C 6: 132,714,495 (GRCm39) D152G probably damaging Het
Tti1 A T 2: 157,850,315 (GRCm39) L308Q possibly damaging Het
Unc93b1 G A 19: 3,985,236 (GRCm39) A15T probably benign Het
Usp43 G A 11: 67,747,233 (GRCm39) R820C possibly damaging Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Vps8 A T 16: 21,363,986 (GRCm39) probably benign Het
Wdr73 T C 7: 80,542,969 (GRCm39) E213G probably benign Het
Zfp286 C G 11: 62,671,030 (GRCm39) G348R probably damaging Het
Zkscan5 T C 5: 145,147,984 (GRCm39) probably benign Het
Other mutations in Slc7a11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00660:Slc7a11 APN 3 50,382,136 (GRCm39) missense probably benign 0.06
IGL00990:Slc7a11 APN 3 50,333,518 (GRCm39) missense probably damaging 1.00
IGL01755:Slc7a11 APN 3 50,378,516 (GRCm39) missense probably benign 0.39
IGL03105:Slc7a11 APN 3 50,326,788 (GRCm39) missense possibly damaging 0.67
IGL03141:Slc7a11 APN 3 50,336,334 (GRCm39) missense possibly damaging 0.66
R0468:Slc7a11 UTSW 3 50,338,500 (GRCm39) missense probably damaging 1.00
R0735:Slc7a11 UTSW 3 50,378,545 (GRCm39) missense probably benign 0.00
R1363:Slc7a11 UTSW 3 50,378,500 (GRCm39) missense probably damaging 1.00
R1466:Slc7a11 UTSW 3 50,335,522 (GRCm39) splice site probably null
R1466:Slc7a11 UTSW 3 50,335,522 (GRCm39) splice site probably null
R1554:Slc7a11 UTSW 3 50,336,345 (GRCm39) missense probably damaging 1.00
R1734:Slc7a11 UTSW 3 50,326,795 (GRCm39) nonsense probably null
R2128:Slc7a11 UTSW 3 50,338,558 (GRCm39) missense probably damaging 0.97
R2504:Slc7a11 UTSW 3 50,332,195 (GRCm39) splice site probably null
R3116:Slc7a11 UTSW 3 50,338,588 (GRCm39) missense probably benign 0.13
R3981:Slc7a11 UTSW 3 50,382,223 (GRCm39) missense probably benign
R5117:Slc7a11 UTSW 3 50,333,599 (GRCm39) missense probably damaging 0.99
R5586:Slc7a11 UTSW 3 50,397,532 (GRCm39) missense possibly damaging 0.95
R5621:Slc7a11 UTSW 3 50,393,324 (GRCm39) missense probably damaging 1.00
R5689:Slc7a11 UTSW 3 50,326,780 (GRCm39) missense probably benign 0.01
R5692:Slc7a11 UTSW 3 50,326,780 (GRCm39) missense probably benign 0.01
R5965:Slc7a11 UTSW 3 50,333,593 (GRCm39) missense probably benign 0.00
R6338:Slc7a11 UTSW 3 50,338,492 (GRCm39) critical splice donor site probably null
R7177:Slc7a11 UTSW 3 50,397,680 (GRCm39) missense probably benign 0.00
R7337:Slc7a11 UTSW 3 50,397,448 (GRCm39) missense possibly damaging 0.50
R7634:Slc7a11 UTSW 3 50,378,486 (GRCm39) splice site probably null
R7756:Slc7a11 UTSW 3 50,326,809 (GRCm39) missense probably benign
R7758:Slc7a11 UTSW 3 50,326,809 (GRCm39) missense probably benign
R7821:Slc7a11 UTSW 3 50,335,476 (GRCm39) missense probably damaging 1.00
R8112:Slc7a11 UTSW 3 50,372,440 (GRCm39) missense possibly damaging 0.92
R8218:Slc7a11 UTSW 3 50,378,501 (GRCm39) missense probably damaging 1.00
R8255:Slc7a11 UTSW 3 50,382,177 (GRCm39) missense probably damaging 0.98
R8318:Slc7a11 UTSW 3 50,372,435 (GRCm39) critical splice donor site probably null
R8396:Slc7a11 UTSW 3 50,338,578 (GRCm39) missense possibly damaging 0.78
R8857:Slc7a11 UTSW 3 50,393,305 (GRCm39) missense probably damaging 1.00
R8967:Slc7a11 UTSW 3 50,338,564 (GRCm39) missense probably benign 0.00
R9044:Slc7a11 UTSW 3 50,333,632 (GRCm39) missense probably benign 0.20
R9104:Slc7a11 UTSW 3 50,332,082 (GRCm39) missense probably benign 0.01
R9404:Slc7a11 UTSW 3 50,335,488 (GRCm39) missense possibly damaging 0.64
R9500:Slc7a11 UTSW 3 50,382,201 (GRCm39) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-07-21