Incidental Mutation 'IGL03105:Slc7a11'
ID 418916
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03105
Quality Score
Status
Chromosome 3
Chromosomal Location 50319385-50403947 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 50326788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 491 (I491K)
Ref Sequence ENSEMBL: ENSMUSP00000029297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029297] [ENSMUST00000194462]
AlphaFold Q9WTR6
Predicted Effect possibly damaging
Transcript: ENSMUST00000029297
AA Change: I491K

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029297
Gene: ENSMUSG00000027737
AA Change: I491K

DomainStartEndE-ValueType
Pfam:AA_permease_2 44 469 3.3e-61 PFAM
Pfam:AA_permease 49 478 1.1e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192564
Predicted Effect probably benign
Transcript: ENSMUST00000194462
SMART Domains Protein: ENSMUSP00000141988
Gene: ENSMUSG00000027737

DomainStartEndE-ValueType
Pfam:AA_permease_2 44 469 1.1e-60 PFAM
Pfam:AA_permease 49 479 2e-32 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 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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss1 A G 12: 112,599,155 (GRCm39) I129V probably benign Het
Ankrd35 A G 3: 96,591,373 (GRCm39) H553R probably benign Het
Brca2 A G 5: 150,483,950 (GRCm39) K2923R probably benign Het
Cadm3 A T 1: 173,172,583 (GRCm39) L174M probably damaging Het
Car10 T C 11: 92,991,101 (GRCm39) V17A probably benign Het
Cep290 A G 10: 100,387,686 (GRCm39) K1956E possibly damaging Het
Cfhr1 T A 1: 139,475,565 (GRCm39) probably benign Het
Crim1 A T 17: 78,623,179 (GRCm39) probably benign Het
Dedd G A 1: 171,168,486 (GRCm39) R224H probably damaging Het
F7 A T 8: 13,084,001 (GRCm39) I229L probably null Het
Igkv17-121 A T 6: 68,014,284 (GRCm39) Q112L probably damaging Het
Kcnk13 G A 12: 100,027,369 (GRCm39) R148Q probably damaging Het
Klk13 T C 7: 43,370,904 (GRCm39) L51P probably benign Het
Ldb2 A G 5: 44,956,715 (GRCm39) S41P possibly damaging Het
Magi2 A G 5: 20,748,616 (GRCm39) D767G probably damaging Het
Mical3 T C 6: 121,019,199 (GRCm39) T8A probably benign Het
Mkln1 G T 6: 31,435,994 (GRCm39) E318* probably null Het
Mx1 C T 16: 97,257,554 (GRCm39) V68I possibly damaging Het
Mylk2 T C 2: 152,759,279 (GRCm39) V350A possibly damaging Het
Nav2 T A 7: 49,114,627 (GRCm39) S870R probably damaging Het
Onecut2 A T 18: 64,474,579 (GRCm39) K358* probably null Het
Or51b4 A G 7: 103,531,339 (GRCm39) I37T possibly damaging Het
Or52n2c A T 7: 104,574,971 (GRCm39) probably benign Het
Or7a40 T C 16: 16,491,390 (GRCm39) T152A probably benign Het
Or7g16 T C 9: 18,726,685 (GRCm39) R302G probably benign Het
Orai3 A G 7: 127,372,725 (GRCm39) probably benign Het
Rad54b A G 4: 11,615,569 (GRCm39) N859S probably benign Het
Saxo4 A G 19: 10,454,384 (GRCm39) probably benign Het
Sec23b C T 2: 144,423,940 (GRCm39) R530W probably damaging Het
Slc25a35 T C 11: 68,859,496 (GRCm39) F3S probably damaging Het
Srrt A T 5: 137,298,106 (GRCm39) N317K possibly damaging Het
Sspo T C 6: 48,450,592 (GRCm39) probably benign Het
Taf2 A C 15: 54,909,195 (GRCm39) D683E probably benign Het
Tasor T A 14: 27,164,509 (GRCm39) C272S probably damaging Het
Tcerg1l G T 7: 137,850,173 (GRCm39) probably benign Het
Tg G T 15: 66,586,955 (GRCm39) V1578F probably benign Het
Tmem43 G A 6: 91,457,682 (GRCm39) G188D probably damaging Het
Tnfrsf8 T C 4: 145,025,354 (GRCm39) Y73C probably damaging Het
Ttc21a A G 9: 119,771,642 (GRCm39) Y147C probably benign Het
Ttn T C 2: 76,608,394 (GRCm39) D17843G probably damaging Het
Ttn T A 2: 76,642,521 (GRCm39) D11592V probably damaging Het
Tubgcp5 T A 7: 55,475,329 (GRCm39) I842N probably damaging Het
Unc80 A T 1: 66,511,258 (GRCm39) T89S probably damaging Het
Usp28 T C 9: 48,950,355 (GRCm39) M928T probably damaging Het
Usp43 A G 11: 67,770,802 (GRCm39) S611P possibly damaging Het
Utp20 A G 10: 88,626,958 (GRCm39) V1000A probably benign Het
Zfp263 T C 16: 3,566,824 (GRCm39) C380R probably damaging Het
Zfyve1 A C 12: 83,605,413 (GRCm39) C14G probably damaging 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
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
R4479:Slc7a11 UTSW 3 50,372,412 (GRCm39) intron 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
Posted On 2016-08-02