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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |