Incidental Mutation 'R5692:Slc7a11'
| ID |
443718 |
| 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 |
043179-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5692 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
50319385-50403947 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 50326780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 494
(V494L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029297]
[ENSMUST00000194462]
|
| AlphaFold |
Q9WTR6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029297
AA Change: V494L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000029297
Gene: ENSMUSG00000027737
AA Change: V494L
| 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 |
|
| Meta Mutation Damage Score |
0.1608 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700128F08Rik |
G |
A |
9: 8,221,991 (GRCm39) |
|
noncoding transcript |
Het |
| Adcy10 |
A |
G |
1: 165,342,875 (GRCm39) |
N247S |
probably benign |
Het |
| Ago3 |
T |
C |
4: 126,248,862 (GRCm39) |
|
probably null |
Het |
| Aldh16a1 |
A |
G |
7: 44,797,223 (GRCm39) |
V168A |
probably damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Arhgap26 |
T |
A |
18: 39,254,945 (GRCm39) |
V274E |
probably damaging |
Het |
| Clec4d |
T |
C |
6: 123,245,104 (GRCm39) |
|
probably null |
Het |
| Dennd4b |
T |
C |
3: 90,185,090 (GRCm39) |
Y1166H |
probably damaging |
Het |
| Egln3 |
T |
C |
12: 54,227,447 (GRCm39) |
|
probably null |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Fhad1 |
T |
A |
4: 141,690,768 (GRCm39) |
M434L |
probably benign |
Het |
| Gfm1 |
T |
G |
3: 67,342,955 (GRCm39) |
M163R |
probably damaging |
Het |
| Isg15 |
A |
T |
4: 156,284,279 (GRCm39) |
L83Q |
probably damaging |
Het |
| Ly9 |
GCCTTTGGGGGACAATTCC |
GCC |
1: 171,432,755 (GRCm39) |
|
probably null |
Het |
| Med1 |
G |
T |
11: 98,047,206 (GRCm39) |
|
probably benign |
Het |
| Mrc2 |
T |
A |
11: 105,227,468 (GRCm39) |
V567D |
probably damaging |
Het |
| Nnmt |
G |
T |
9: 48,514,780 (GRCm39) |
T79K |
probably benign |
Het |
| Opn1sw |
G |
A |
6: 29,379,840 (GRCm39) |
|
probably benign |
Het |
| Optc |
G |
T |
1: 133,828,714 (GRCm39) |
|
probably benign |
Het |
| Pcdh17 |
C |
T |
14: 84,685,980 (GRCm39) |
P816S |
probably benign |
Het |
| Pcdhb15 |
T |
C |
18: 37,607,502 (GRCm39) |
S245P |
probably benign |
Het |
| Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
| Sacs |
T |
C |
14: 61,445,288 (GRCm39) |
F2445L |
probably benign |
Het |
| Sel1l |
T |
C |
12: 91,778,652 (GRCm39) |
N721S |
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Sulf2 |
C |
A |
2: 165,923,426 (GRCm39) |
A598S |
probably benign |
Het |
| Tph2 |
A |
T |
10: 115,020,732 (GRCm39) |
D21E |
probably damaging |
Het |
| Trf |
T |
C |
9: 103,103,324 (GRCm39) |
Y110C |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,628,202 (GRCm39) |
E14653K |
possibly damaging |
Het |
| Vmn2r18 |
A |
G |
5: 151,485,724 (GRCm39) |
I590T |
possibly damaging |
Het |
| Zfp607b |
G |
T |
7: 27,402,889 (GRCm39) |
K448N |
probably benign |
Het |
| Zfp689 |
T |
C |
7: 127,048,071 (GRCm39) |
|
probably benign |
Het |
| Zfp709 |
C |
T |
8: 72,643,999 (GRCm39) |
P476L |
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 |
|
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 |
|
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
(F):5'- GCCTCACTGTATGACTTGCATATTAG -3'
(R):5'- GTAAATAATTCTCGGAAGTGCTCC -3'
Sequencing Primer
(F):5'- GGAGTTACCAGTAAGTTGCTCAG -3'
(R):5'- CGTGAAGAAGGGAGCTGTGTC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation