Incidental Mutation 'R8255:Slc7a11'
ID 640590
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 067681-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8255 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 50319385-50403947 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 50382177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 190 (I190N)
Ref Sequence ENSEMBL: ENSMUSP00000029297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029297] [ENSMUST00000194462]
AlphaFold Q9WTR6
Predicted Effect probably damaging
Transcript: ENSMUST00000029297
AA Change: I190N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029297
Gene: ENSMUSG00000027737
AA Change: I190N

DomainStartEndE-ValueType
Pfam:AA_permease_2 44 469 3.3e-61 PFAM
Pfam:AA_permease 49 478 1.1e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000194462
AA Change: I190N

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141988
Gene: ENSMUSG00000027737
AA Change: I190N

DomainStartEndE-ValueType
Pfam:AA_permease_2 44 469 1.1e-60 PFAM
Pfam:AA_permease 49 479 2e-32 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (46/46)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,415,850 (GRCm39) T648S possibly damaging Het
Abca12 T A 1: 71,359,058 (GRCm39) I583F probably benign Het
Abca4 A T 3: 121,948,926 (GRCm39) M1732L probably benign Het
Ank2 A G 3: 126,740,398 (GRCm39) S1742P unknown Het
Birc6 G A 17: 74,969,775 (GRCm39) A4273T probably damaging Het
Chd5 A G 4: 152,463,880 (GRCm39) T1450A probably damaging Het
Dhx32 T C 7: 133,339,120 (GRCm39) N305S probably benign Het
Dnah7c T C 1: 46,698,589 (GRCm39) S2174P probably damaging Het
Fat2 T A 11: 55,161,101 (GRCm39) I3210F probably benign Het
Gm12888 A G 4: 121,181,994 (GRCm39) S33P probably damaging Het
Gpaa1 T C 15: 76,217,438 (GRCm39) L292P probably damaging Het
Gzmg T A 14: 56,395,753 (GRCm39) R69W probably damaging Het
Hat1 A G 2: 71,239,347 (GRCm39) D40G probably damaging Het
Hcrtr2 T A 9: 76,140,203 (GRCm39) I362F probably damaging Het
Hmmr T C 11: 40,598,262 (GRCm39) E650G probably damaging Het
Ifi35 A T 11: 101,348,608 (GRCm39) M180L probably benign Het
Ifi44 A T 3: 151,451,619 (GRCm39) H162Q probably benign Het
Il1rl2 T C 1: 40,404,471 (GRCm39) F531L probably damaging Het
Ipcef1 T G 10: 6,870,007 (GRCm39) K182T probably benign Het
Med27 C A 2: 29,414,376 (GRCm39) probably null Het
Med31 G A 11: 72,106,294 (GRCm39) probably benign Het
Moxd1 A G 10: 24,099,700 (GRCm39) T67A probably benign Het
Myh3 A G 11: 66,985,848 (GRCm39) E1266G probably damaging Het
Nkx2-4 C A 2: 146,925,924 (GRCm39) E313* probably null Het
Nol6 G T 4: 41,120,168 (GRCm39) R487S probably benign Het
Or2v1 C A 11: 49,025,307 (GRCm39) A96D probably benign Het
Or2z8 T A 8: 72,811,607 (GRCm39) F28I possibly damaging Het
Or4k15c C T 14: 50,321,329 (GRCm39) V270I noncoding transcript Het
Or5p51 A G 7: 107,444,368 (GRCm39) S191P probably damaging Het
Rnf135 A G 11: 80,084,713 (GRCm39) D162G probably benign Het
Sdr42e1 G T 8: 118,390,502 (GRCm39) N46K probably benign Het
Skor2 T C 18: 76,946,664 (GRCm39) S129P unknown Het
Smc5 A T 19: 23,186,290 (GRCm39) F1056I Het
Son A T 16: 91,461,824 (GRCm39) Q2243L unknown Het
Sult1a1 T A 7: 126,274,280 (GRCm39) I101F possibly damaging Het
Sult3a2 T C 10: 33,655,747 (GRCm39) I77M probably benign Het
Tas1r1 A T 4: 152,116,774 (GRCm39) S287T probably benign Het
Thbs3 A C 3: 89,132,565 (GRCm39) T836P probably benign Het
Tlcd3b G A 7: 126,423,275 (GRCm39) V6M probably benign Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tnfrsf8 A T 4: 145,041,653 (GRCm39) M1K probably null Het
Vmn1r121 T G 7: 20,831,679 (GRCm39) N254H probably benign Het
Vmn1r179 C T 7: 23,628,436 (GRCm39) A209V probably benign Het
Wdr31 A T 4: 62,381,634 (GRCm39) S66T probably benign Het
Zbtb18 T C 1: 177,275,003 (GRCm39) V121A probably damaging Het
Zfp30 T A 7: 29,488,826 (GRCm39) M82K probably benign Het
Zzef1 A G 11: 72,765,955 (GRCm39) Q1494R 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
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
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
(F):5'- CAGAGTTTAAGTTCCACAAGCAAAG -3'
(R):5'- GAGCCATCTTAATGCAGGAGAG -3'

Sequencing Primer
(F):5'- GTTCCACAAGCAAAGACTAATTAAGG -3'
(R):5'- ATCTGGACAGAGCCTGGGATTC -3'
Posted On 2020-07-28