Mutagenetix > Incidental Mutation

Incidental Mutation 'R2128:Slc7a11'

227701

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

040131-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2128 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50319385-50403947 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50338558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 284 (T284S)

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: T284S

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029297
Gene: ENSMUSG00000027737
AA Change: T284S

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

possibly damaging
Transcript: ENSMUST00000194462
AA Change: T284S

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141988
Gene: ENSMUSG00000027737
AA Change: T284S

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

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,066,066 (GRCm39)	E249G	possibly damaging	Het
2610028H24Rik	A	G	10: 76,293,349 (GRCm39)	M136V	possibly damaging	Het
4930523C07Rik	A	T	1: 159,902,945 (GRCm39)	K72*	probably null	Het
Abca6	A	G	11: 110,110,475 (GRCm39)	I558T	probably benign	Het
Acot10	T	C	15: 20,666,712 (GRCm39)	T10A	probably benign	Het
Adgrl4	T	A	3: 151,205,838 (GRCm39)	D233E	probably benign	Het
Adgrv1	A	T	13: 81,705,199 (GRCm39)	F1537Y	probably damaging	Het
Aqp3	T	A	4: 41,098,061 (GRCm39)	I17F	probably benign	Het
Arap1	T	A	7: 101,058,527 (GRCm39)	L1375H	probably damaging	Het
Aspm	T	C	1: 139,385,373 (GRCm39)	V339A	probably benign	Het
Atp13a3	G	A	16: 30,173,094 (GRCm39)	A261V	probably damaging	Het
Casp8ap2	T	C	4: 32,640,142 (GRCm39)	Y399H	probably benign	Het
Cept1	A	G	3: 106,420,195 (GRCm39)	V213A	probably damaging	Het
Cit	A	G	5: 116,123,566 (GRCm39)	D1469G	possibly damaging	Het
Cnga2	A	G	X: 71,051,394 (GRCm39)	Y182C	possibly damaging	Het
Cox20	A	G	1: 178,149,512 (GRCm39)	I54V	probably benign	Het
Dhx8	C	A	11: 101,629,235 (GRCm39)	D261E	probably benign	Het
Dnah2	A	T	11: 69,349,011 (GRCm39)	I2486N	probably benign	Het
Dnah5	A	G	15: 28,408,467 (GRCm39)	Q3484R	probably benign	Het
Drd1	T	C	13: 54,207,572 (GRCm39)	Y207C	probably damaging	Het
Dtl	C	T	1: 191,290,222 (GRCm39)	V222I	probably damaging	Het
Dync1h1	T	C	12: 110,607,316 (GRCm39)	Y2636H	probably damaging	Het
Endog	C	A	2: 30,062,048 (GRCm39)	D154E	probably benign	Het
Epc1	A	T	18: 6,462,954 (GRCm39)	V14E	probably damaging	Het
Ercc4	C	A	16: 12,965,798 (GRCm39)	T810K	probably damaging	Het
Fam43b	T	A	4: 138,123,299 (GRCm39)	N7I	possibly damaging	Het
Fgd1	T	C	X: 149,869,213 (GRCm39)		probably null	Het
Filip1	G	T	9: 79,726,612 (GRCm39)	T669N	probably damaging	Het
Fndc1	A	G	17: 7,997,497 (GRCm39)		probably benign	Het
Foxk1	C	A	5: 142,420,943 (GRCm39)	S189*	probably null	Het
Gatm	T	C	2: 122,431,017 (GRCm39)	N274S	probably damaging	Het
Gdf9	A	G	11: 53,328,334 (GRCm39)	Y430C	probably damaging	Het
Gga1	C	T	15: 78,772,648 (GRCm39)	P260S	probably damaging	Het
Gm11595	A	T	11: 99,663,327 (GRCm39)	C118S	unknown	Het
Gm382	G	T	X: 125,970,274 (GRCm39)	V820L	possibly damaging	Het
Gzmk	T	A	13: 113,308,548 (GRCm39)	I179F	probably damaging	Het
Hsp90b1	T	C	10: 86,531,570 (GRCm39)	D421G	probably damaging	Het
Hus1	A	G	11: 8,956,011 (GRCm39)	M174T	probably damaging	Het
Ifngr2	T	A	16: 91,359,761 (GRCm39)	Y289*	probably null	Het
Il6st	T	A	13: 112,640,709 (GRCm39)	H828Q	probably benign	Het
Impg2	T	A	16: 56,038,742 (GRCm39)	Y127N	probably damaging	Het
Irf3	T	A	7: 44,651,168 (GRCm39)	W345R	probably damaging	Het
Kif1b	G	A	4: 149,272,097 (GRCm39)	S1568L	possibly damaging	Het
Klhl42	A	G	6: 147,003,251 (GRCm39)	T342A	probably benign	Het
Kndc1	G	T	7: 139,510,025 (GRCm39)	R1289L	probably damaging	Het
Knl1	A	T	2: 118,902,300 (GRCm39)	T1334S	possibly damaging	Het
L3mbtl3	G	T	10: 26,189,766 (GRCm39)	D499E	unknown	Het
Ldhd	T	A	8: 112,353,680 (GRCm39)	M478L	probably benign	Het
Loxl4	C	G	19: 42,592,402 (GRCm39)	E385D	probably damaging	Het
Lrriq1	G	A	10: 103,050,718 (GRCm39)	T678I	probably benign	Het
Macf1	T	A	4: 123,386,567 (GRCm39)	I1017F	probably benign	Het
Madcam1	A	G	10: 79,501,406 (GRCm39)	E157G	possibly damaging	Het
Mamdc4	T	C	2: 25,459,270 (GRCm39)	D195G	probably damaging	Het
Mctp1	A	G	13: 76,972,941 (GRCm39)	D648G	probably damaging	Het
Mycbp2	T	C	14: 103,438,666 (GRCm39)	M2072V	probably benign	Het
Nck1	A	G	9: 100,379,600 (GRCm39)		probably null	Het
Ndufaf4	G	T	4: 24,898,608 (GRCm39)	D55Y	probably damaging	Het
Nek11	A	T	9: 105,177,560 (GRCm39)	D230E	probably benign	Het
Nit2	T	C	16: 56,981,559 (GRCm39)	K67E	possibly damaging	Het
Or12j2	C	T	7: 139,916,342 (GRCm39)	T189M	probably damaging	Het
Or5ae1	T	C	7: 84,565,701 (GRCm39)	F238S	probably damaging	Het
Or6a2	T	C	7: 106,600,455 (GRCm39)	D204G	probably damaging	Het
Or6c1	A	T	10: 129,518,401 (GRCm39)	V69E	possibly damaging	Het
Pakap	A	G	4: 57,854,890 (GRCm39)	Y134C	probably benign	Het
Pccb	G	C	9: 100,867,884 (GRCm39)	D347E	probably damaging	Het
Plcl1	T	A	1: 55,736,997 (GRCm39)	F779L	probably damaging	Het
Prune2	C	A	19: 17,099,786 (GRCm39)	D1763E	probably benign	Het
Pwwp2a	A	G	11: 43,596,145 (GRCm39)	S437G	probably benign	Het
Rabgap1l	A	T	1: 160,566,527 (GRCm39)	D90E	probably benign	Het
Rapgef4	T	A	2: 72,056,897 (GRCm39)	I552N	possibly damaging	Het
Scn7a	A	T	2: 66,528,330 (GRCm39)	I720K	probably damaging	Het
Scn9a	T	A	2: 66,356,998 (GRCm39)	N1101I	probably damaging	Het
Siglec1	A	T	2: 130,922,417 (GRCm39)	Y553N	probably damaging	Het
Slc22a23	A	G	13: 34,387,953 (GRCm39)	L381P	possibly damaging	Het
Slc8a2	T	A	7: 15,874,417 (GRCm39)		probably null	Het
Snx29	T	A	16: 11,218,835 (GRCm39)	S224T	probably damaging	Het
Stimate	T	C	14: 30,588,581 (GRCm39)	Y103H	probably damaging	Het
Stox1	T	C	10: 62,500,314 (GRCm39)	T749A	probably benign	Het
Tg	A	G	15: 66,566,743 (GRCm39)	I1264V	probably benign	Het
Top2a	A	C	11: 98,900,633 (GRCm39)	V609G	probably damaging	Het
Trmt44	G	A	5: 35,732,176 (GRCm39)	P72S	probably benign	Het
Ttll3	G	C	6: 113,389,895 (GRCm39)	S760T	probably benign	Het
Ttn	T	C	2: 76,579,022 (GRCm39)	D23957G	probably damaging	Het
Ttn	G	A	2: 76,664,241 (GRCm39)		probably benign	Het
Ubxn1	T	G	19: 8,849,434 (GRCm39)	V59G	probably benign	Het
Ubxn4	T	C	1: 128,172,247 (GRCm39)	S14P	probably benign	Het
Uso1	T	A	5: 92,343,229 (GRCm39)	M771K	probably benign	Het
Utp20	A	G	10: 88,649,917 (GRCm39)	F431S	probably damaging	Het
Vmn1r206	T	C	13: 22,804,782 (GRCm39)	S142G	probably benign	Het
Vmn2r19	A	G	6: 123,285,289 (GRCm39)		probably null	Het
Vps36	G	T	8: 22,708,305 (GRCm39)		probably null	Het
Wnt3	A	G	11: 103,703,474 (GRCm39)	H319R	possibly damaging	Het
Zbtb26	G	T	2: 37,326,563 (GRCm39)	Q158K	probably benign	Het
Zfp648	T	C	1: 154,080,353 (GRCm39)	S171P	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TCTCCTGGAAGAAACCACGATC -3'
(R):5'- TGCAAGGGTACTCTGTTCTG -3'

Sequencing Primer
(F):5'- GATCAAACTGTACCAGCTCATTAAC -3'
(R):5'- TGTTCCTCCATGTGCCAACAAAG -3'

Posted On

2014-09-17