Mutagenetix > Incidental Mutation

Incidental Mutation 'R5965:Slc7a11'

472006

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

044150-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5965 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50319385-50403947 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50333593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 386 (Y386F)

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: Y386F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000029297
Gene: ENSMUSG00000027737
AA Change: Y386F

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

probably benign
Transcript: ENSMUST00000194462
AA Change: Y386F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141988
Gene: ENSMUSG00000027737
AA Change: Y386F

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.1%

Validation Efficiency

98% (80/82)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	T	A	5: 30,410,637 (GRCm39)	T23S	probably benign	Het
Armc2	A	G	10: 41,798,568 (GRCm39)	I747T	possibly damaging	Het
Cacna1c	T	A	6: 118,579,261 (GRCm39)	H1729L	probably damaging	Het
Crebbp	A	G	16: 3,905,525 (GRCm39)		probably benign	Het
Cyp4f17	T	A	17: 32,743,611 (GRCm39)	M326K	probably damaging	Het
Dchs1	T	G	7: 105,405,132 (GRCm39)	D2470A	probably damaging	Het
Ddhd2	T	C	8: 26,225,804 (GRCm39)	T518A	probably damaging	Het
Derl2	T	C	11: 70,905,378 (GRCm39)	T109A	probably benign	Het
Dnah7b	T	C	1: 46,402,147 (GRCm39)	L3994P	probably damaging	Het
Dock10	T	C	1: 80,546,461 (GRCm39)		probably null	Het
Dync1h1	T	A	12: 110,599,212 (GRCm39)	S1856T	probably benign	Het
Ehd2	T	C	7: 15,685,999 (GRCm39)	K358E	possibly damaging	Het
Enpp2	A	G	15: 54,746,367 (GRCm39)		probably null	Het
Esco1	T	C	18: 10,593,867 (GRCm39)	E473G	possibly damaging	Het
Exoc5	A	G	14: 49,272,388 (GRCm39)	F342S	probably damaging	Het
Fam186a	T	A	15: 99,842,978 (GRCm39)	T1089S	probably benign	Het
Fanca	T	C	8: 124,043,149 (GRCm39)	D79G	possibly damaging	Het
Gabrb2	A	G	11: 42,517,696 (GRCm39)	Y506C	probably damaging	Het
Galntl6	T	C	8: 58,310,565 (GRCm39)	T379A	probably benign	Het
Garin2	T	A	12: 78,757,080 (GRCm39)	N12K	unknown	Het
Gm34768	A	G	2: 11,913,316 (GRCm39)		noncoding transcript	Het
Gps2	A	G	11: 69,805,620 (GRCm39)	E46G	possibly damaging	Het
Gsdmc	T	C	15: 63,676,447 (GRCm39)		probably null	Het
Gys1	C	T	7: 45,104,763 (GRCm39)	T666I	probably benign	Het
Hsd17b11	T	A	5: 104,169,651 (GRCm39)		probably benign	Het
Iffo1	T	A	6: 125,129,471 (GRCm39)		probably benign	Het
Ighv1-51	T	C	12: 115,095,177 (GRCm39)		noncoding transcript	Het
Kansl3	T	A	1: 36,384,601 (GRCm39)		probably null	Het
Kdm3a	A	G	6: 71,598,364 (GRCm39)	I174T	probably benign	Het
Klhl26	A	T	8: 70,905,381 (GRCm39)	D95E	probably damaging	Het
Lair1	T	C	7: 4,032,023 (GRCm39)	D28G	possibly damaging	Het
Lama3	A	G	18: 12,562,944 (GRCm39)	D489G	possibly damaging	Het
Lamb3	A	T	1: 193,025,768 (GRCm39)	I1153F	probably damaging	Het
Lsp1	T	A	7: 142,044,161 (GRCm39)		probably null	Het
Man1a	A	G	10: 53,809,586 (GRCm39)		probably benign	Het
Mcam	A	C	9: 44,047,925 (GRCm39)	S57R	probably damaging	Het
Mrgprf	C	A	7: 144,861,168 (GRCm39)		probably benign	Het
Nfia	T	C	4: 97,999,529 (GRCm39)	*499Q	probably null	Het
Nmbr	C	A	10: 14,642,554 (GRCm39)	R38S	probably benign	Het
Or12e7	T	G	2: 87,288,381 (GRCm39)	F291V	probably benign	Het
Or51a25	C	A	7: 102,373,467 (GRCm39)	V77L	probably benign	Het
Or5h23	T	C	16: 58,906,666 (GRCm39)	Y60C	probably damaging	Het
P3h1	C	T	4: 119,105,424 (GRCm39)	H741Y	probably benign	Het
Parp4	A	T	14: 56,861,489 (GRCm39)	M941L	probably benign	Het
Phaf1	T	C	8: 105,961,171 (GRCm39)	F69L	probably damaging	Het
Pik3c3	C	T	18: 30,431,633 (GRCm39)	T331M	probably damaging	Het
Prkg1	T	C	19: 30,701,556 (GRCm39)		probably null	Het
Qsox2	A	T	2: 26,112,233 (GRCm39)	V103D	probably benign	Het
Ranbp1	T	C	16: 18,063,092 (GRCm39)	T95A	probably damaging	Het
Ric1	G	A	19: 29,548,171 (GRCm39)	D280N	probably damaging	Het
Scd1	A	G	19: 44,388,579 (GRCm39)		probably null	Het
Serpinb3c	A	G	1: 107,204,653 (GRCm39)	I31T	probably benign	Het
Smtnl2	A	T	11: 72,291,279 (GRCm39)		probably null	Het
Snx2	G	T	18: 53,327,534 (GRCm39)	E87*	probably null	Het
Tars2	A	C	3: 95,655,464 (GRCm39)		probably null	Het
Tax1bp1	C	A	6: 52,706,317 (GRCm39)	T106N	probably damaging	Het
Tcof1	A	G	18: 60,966,490 (GRCm39)		probably null	Het
Tenm3	C	A	8: 48,681,543 (GRCm39)	E2680*	probably null	Het
Thap7	C	T	16: 17,348,611 (GRCm39)		probably benign	Het
Thoc6	T	A	17: 23,889,842 (GRCm39)	I23F	possibly damaging	Het
Tmem185b	T	G	1: 119,454,294 (GRCm39)	Y18*	probably null	Het
Trav6-1	A	C	14: 52,876,254 (GRCm39)	Y58S	probably damaging	Het
Trbv16	A	T	6: 41,128,989 (GRCm39)	I58F	probably benign	Het
Ubtfl1	T	A	9: 18,320,838 (GRCm39)	M122K	probably benign	Het
Vps13a	T	C	19: 16,596,392 (GRCm39)		probably null	Het
Zdhhc24	T	G	19: 4,933,778 (GRCm39)	D278E	probably benign	Het
Zfp316	T	C	5: 143,250,427 (GRCm39)		probably null	Het
Zfyve9	T	C	4: 108,548,878 (GRCm39)	T769A	possibly damaging	Het
Znhit6	T	A	3: 145,284,103 (GRCm39)	N96K	possibly 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
R5692:Slc7a11	UTSW	3	50,326,780 (GRCm39)	missense	probably benign	0.01
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'- TGCCCATGCCCATCATCAAG -3'
(R):5'- GCTTTGTTGCAGCATAAGAACAG -3'

Sequencing Primer
(F):5'- GCCCATGCCCATCATCAAGTTATG -3'
(R):5'- AGAAGTTTGTGGGATCCAGGC -3'

Posted On

2017-03-31