Mutagenetix > Incidental Mutation

Incidental Mutation 'R9104:Slc7a11'

691871

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9104 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50319385-50403947 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50332082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 459 (T459S)

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: T459S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000029297
Gene: ENSMUSG00000027737
AA Change: T459S

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: T459S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000141988
Gene: ENSMUSG00000027737
AA Change: T459S

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (69/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	T	8: 44,023,108 (GRCm39)	N127K	probably damaging	Het
Adgrl3	C	T	5: 81,457,912 (GRCm39)	A14V	probably benign	Het
Adra2b	A	G	2: 127,205,858 (GRCm39)	Y125C	probably damaging	Het
Ahnak	T	A	19: 8,987,711 (GRCm39)	H2998Q	probably benign	Het
B3galt1	C	A	2: 67,948,406 (GRCm39)	H40Q	probably benign	Het
Best3	T	G	10: 116,860,680 (GRCm39)	L647V	probably benign	Het
Brip1	T	A	11: 86,077,897 (GRCm39)	E177V	possibly damaging	Het
C1qtnf6	T	C	15: 78,409,109 (GRCm39)	D246G	probably benign	Het
C4b	G	A	17: 34,948,233 (GRCm39)	T1622M	probably benign	Het
Catip	G	A	1: 74,401,682 (GRCm39)		probably null	Het
Ccdc138	T	C	10: 58,348,982 (GRCm39)	V176A	probably benign	Het
Ccdc85a	T	C	11: 28,526,879 (GRCm39)	H243R	probably damaging	Het
Cep19	C	T	16: 31,925,883 (GRCm39)	T97M	probably damaging	Het
Copz2	G	A	11: 96,747,514 (GRCm39)	D166N	possibly damaging	Het
Dedd	C	T	1: 171,168,572 (GRCm39)	L253F	probably damaging	Het
Dennd5a	A	G	7: 109,497,713 (GRCm39)		probably null	Het
Dpp10	A	T	1: 123,339,484 (GRCm39)	S348T	probably damaging	Het
Eci3	A	G	13: 35,144,382 (GRCm39)		probably null	Het
Egr4	A	G	6: 85,490,337 (GRCm39)	S15P	probably benign	Het
Elp6	A	G	9: 110,134,397 (GRCm39)	T12A	probably benign	Het
Ewsr1	G	T	11: 5,041,367 (GRCm39)	P113T	unknown	Het
Exosc10	T	G	4: 148,664,859 (GRCm39)	L789R	probably benign	Het
Flt4	A	G	11: 49,525,161 (GRCm39)	Y669C	probably damaging	Het
Foxred2	A	T	15: 77,836,517 (GRCm39)	F333I	probably damaging	Het
Frs2	G	T	10: 116,910,070 (GRCm39)	H431N	probably benign	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,497,379 (GRCm39)		probably benign	Het
Gm19410	T	C	8: 36,247,621 (GRCm39)	Y478H	probably damaging	Het
Gm3629	G	A	14: 17,834,542 (GRCm39)	R150C		Het
Grik4	A	C	9: 42,571,168 (GRCm39)	L179R	probably damaging	Het
Gsdmc3	C	T	15: 63,730,941 (GRCm39)		probably null	Het
Il20ra	T	A	10: 19,635,364 (GRCm39)	M535K	probably benign	Het
Il9	A	G	13: 56,628,401 (GRCm39)	V96A	possibly damaging	Het
Itgal	A	G	7: 126,910,794 (GRCm39)	D592G	probably damaging	Het
Klk1b11	C	T	7: 43,427,875 (GRCm39)		probably benign	Het
Klk1b27	G	A	7: 43,705,310 (GRCm39)	W159*	probably null	Het
Mapk9	T	C	11: 49,760,000 (GRCm39)	Y105H	probably damaging	Het
Mmp7	A	G	9: 7,697,947 (GRCm39)		probably benign	Het
Muc2	T	C	7: 141,286,224 (GRCm39)	I118T	probably damaging	Het
N4bp2l2	T	C	5: 150,566,724 (GRCm39)	N131D	unknown	Het
Nbea	A	C	3: 55,862,809 (GRCm39)	S1814R	probably benign	Het
Nlrp9c	G	T	7: 26,081,837 (GRCm39)	L630I	probably benign	Het
Or1j8	T	C	2: 36,191,956 (GRCm39)	V135A		Het
Or6c76	T	C	10: 129,612,521 (GRCm39)	V261A	probably damaging	Het
Or8g27	G	A	9: 39,128,831 (GRCm39)	M59I	probably damaging	Het
Pbx3	C	A	2: 34,114,629 (GRCm39)	D102Y	probably damaging	Het
Pdia6	G	A	12: 17,320,492 (GRCm39)	V44I	probably benign	Het
Pkdcc	G	A	17: 83,528,471 (GRCm39)	R280H	probably damaging	Het
Ppm1h	A	G	10: 122,638,264 (GRCm39)	E178G	probably benign	Het
Prom1	C	T	5: 44,172,161 (GRCm39)	S619N	probably benign	Het
Prtg	A	C	9: 72,755,607 (GRCm39)	I270L	probably damaging	Het
Rfx6	A	T	10: 51,599,106 (GRCm39)	H487L	probably damaging	Het
Rpl18a	A	C	8: 71,348,788 (GRCm39)	Y63D	probably benign	Het
Rtl1	T	A	12: 109,560,718 (GRCm39)	M374L	probably benign	Het
Scaper	A	G	9: 55,819,400 (GRCm39)	L105P	unknown	Het
Slc16a13	T	A	11: 70,111,530 (GRCm39)		probably benign	Het
Slc6a13	A	G	6: 121,313,044 (GRCm39)	K487R	probably benign	Het
Smarcad1	A	G	6: 65,075,649 (GRCm39)	Q708R	probably benign	Het
Stat2	T	C	10: 128,117,111 (GRCm39)		probably null	Het
Syde1	T	C	10: 78,421,670 (GRCm39)	H627R	probably benign	Het
Tas2r113	G	A	6: 132,870,116 (GRCm39)	R48H	probably benign	Het
Tbc1d16	T	C	11: 119,038,626 (GRCm39)	Y690C	probably damaging	Het
Tchh	A	T	3: 93,354,610 (GRCm39)	H1350L	unknown	Het
Tex15	T	A	8: 34,060,950 (GRCm39)	Y127N	possibly damaging	Het
Thsd4	T	C	9: 59,964,179 (GRCm39)	T438A	possibly damaging	Het
Tubg1	A	G	11: 101,015,099 (GRCm39)	D216G	probably benign	Het
Tyk2	T	C	9: 21,026,762 (GRCm39)	D642G	possibly damaging	Het
Uqcc1	C	T	2: 155,743,217 (GRCm39)		probably null	Het
Uvssa	A	C	5: 33,571,404 (GRCm39)	K683Q	probably damaging	Het
Vmn1r59	A	T	7: 5,457,166 (GRCm39)	M198K	probably benign	Het
Zfp772	T	A	7: 7,207,190 (GRCm39)	H167L	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
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
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'- ACCGTTGTGCCACTAGTAGC -3'
(R):5'- AAGAAATTATACTGACCTGCTCTGC -3'

Sequencing Primer
(F):5'- TGCCACTAGTAGCTTTATTCTCTAAG -3'
(R):5'- ATACTGACCTGCTCTGCGATGAC -3'

Posted On

2021-12-30