Mutagenetix > Incidental Mutation

Incidental Mutation 'R7337:Slc7a11'

569553

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, 9930009M05Rik, xCT

MMRRC Submission

045427-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49892526-50443614 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50442999 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 88 (V88A)

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: V88A

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029297
Gene: ENSMUSG00000027737
AA Change: V88A

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: V88A

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000141988
Gene: ENSMUSG00000027737
AA Change: V88A

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

0.3462

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (88/88)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	A	G	14: 49,234,491	M163T	possibly damaging	Het
Abcb11	A	T	2: 69,245,769	H1198Q	probably damaging	Het
Adamts14	A	G	10: 61,207,460	V743A	probably damaging	Het
Adgrg6	A	G	10: 14,467,351	V284A	possibly damaging	Het
AI314180	T	C	4: 58,827,047	T1029A	possibly damaging	Het
Alb	A	G	5: 90,474,593	K560R	probably damaging	Het
Aqp9	A	T	9: 71,162,482	F8L	probably benign	Het
Arhgef7	T	C	8: 11,785,789	L182P	probably damaging	Het
Atr	A	G	9: 95,871,448	D701G	probably damaging	Het
Calr3	C	T	8: 72,431,495	D187N	probably damaging	Het
Ccdc65	A	G	15: 98,721,096	T319A	probably benign	Het
Ccdc66	A	T	14: 27,500,333	L151H	probably damaging	Het
Ces2e	T	A	8: 104,931,056		probably null	Het
Cfap46	A	G	7: 139,630,576		probably null	Het
Cfap74	A	G	4: 155,460,015	T1034A	unknown	Het
Cldnd1	T	G	16: 58,728,959		probably null	Het
Clec4f	C	A	6: 83,653,208	V123L	probably benign	Het
Cntn6	C	T	6: 104,650,530	T108I	probably damaging	Het
Crygn	T	G	5: 24,756,149	D53A	possibly damaging	Het
Cyp27a1	T	A	1: 74,735,435	V204E	probably damaging	Het
Cyp2c67	A	T	19: 39,609,264		probably null	Het
Ddb1	T	C	19: 10,627,831	V1061A	possibly damaging	Het
Dnah12	G	T	14: 26,766,577		probably null	Het
Draxin	T	C	4: 148,112,759	T194A	probably benign	Het
Drosha	T	A	15: 12,846,199	D473E	possibly damaging	Het
G6pd2	T	A	5: 61,810,219	C446S	probably benign	Het
Gm29106	C	T	1: 118,176,912	S3L	unknown	Het
Grin3a	T	C	4: 49,702,762	Y908C	probably damaging	Het
Ints2	G	A	11: 86,217,842	A893V	probably benign	Het
Ippk	C	T	13: 49,449,291	T371I	probably benign	Het
Irf2	T	A	8: 46,807,281	C83S	probably damaging	Het
Jph3	C	T	8: 121,753,702	A373V	probably benign	Het
Kcnj6	C	T	16: 94,833,214	V13I	probably benign	Het
Lama3	T	C	18: 12,507,040		probably null	Het
Lmo7	A	T	14: 101,884,204	Q235L	probably damaging	Het
March7	A	G	2: 60,240,845		probably null	Het
Mfsd6l	A	T	11: 68,557,283	Y320F	possibly damaging	Het
Mroh1	T	A	15: 76,451,476	W1440R	probably benign	Het
Mrps17	G	A	5: 129,716,799	G19D	probably damaging	Het
Myt1	A	G	2: 181,802,963	H566R	possibly damaging	Het
Nav2	T	C	7: 49,551,773	L176P	possibly damaging	Het
Nop58	T	A	1: 59,698,440	C139S	probably benign	Het
Nsd1	A	G	13: 55,246,209	D644G	probably damaging	Het
Nsd2	T	A	5: 33,885,472	C1027S	probably damaging	Het
Nsmce2	A	G	15: 59,601,416	I235V	probably damaging	Het
Nyap2	T	C	1: 81,336,515	V642A	possibly damaging	Het
Olfr300-ps1	A	T	7: 86,443,120	L46F	unknown	Het
Olfr919	A	G	9: 38,697,865	V167A	probably benign	Het
Paqr7	A	G	4: 134,507,120	D96G	probably benign	Het
Parp4	A	G	14: 56,602,395	Y520C	probably damaging	Het
Pde5a	A	G	3: 122,748,458	N199S	probably damaging	Het
Piezo1	A	T	8: 122,485,724	Y1955N		Het
Pnmal1	A	G	7: 16,961,390	K390R	probably benign	Het
Prdm10	G	T	9: 31,316,241	Q47H	probably damaging	Het
Psg22	T	A	7: 18,719,574	F104I	probably benign	Het
Ptprf	T	C	4: 118,211,125	E1738G	probably damaging	Het
Rad21l	A	T	2: 151,658,445	L218Q	probably damaging	Het
Rad54l2	A	G	9: 106,705,825	I798T	probably damaging	Het
Rgs5	G	T	1: 169,655,580	M1I	probably null	Het
Rhbdl2	T	C	4: 123,817,866	V132A	possibly damaging	Het
Rmi1	T	A	13: 58,409,579	Y547*	probably null	Het
Rptn	A	T	3: 93,396,905	D515V	probably benign	Het
Rsph10b	A	G	5: 143,961,215	N505D	probably benign	Het
Samhd1	T	C	2: 157,106,244	D539G	probably damaging	Het
Scube3	A	T	17: 28,168,182	I885F	probably damaging	Het
Sfmbt1	A	G	14: 30,784,739	I247V	possibly damaging	Het
Slc25a21	T	C	12: 56,858,043	I62V	probably benign	Het
Slc4a11	T	A	2: 130,685,532	N648Y	probably damaging	Het
Slc7a8	A	C	14: 54,726,806	F397V	possibly damaging	Het
Sox12	A	C	2: 152,397,457	L81R	probably damaging	Het
Spg11	T	C	2: 122,084,993	I1057V	probably benign	Het
St8sia3	G	A	18: 64,269,916	V265I	probably benign	Het
Stxbp5	A	G	10: 9,809,130	S509P	possibly damaging	Het
Svep1	T	C	4: 58,108,323	Y1129C	probably damaging	Het
Tenm4	G	T	7: 96,874,126	R1625L	probably benign	Het
Tlr4	T	C	4: 66,839,954	F328S	possibly damaging	Het
Tmprss15	T	C	16: 79,071,276	T215A	probably benign	Het
Tmprss9	A	T	10: 80,882,670	I62L	probably benign	Het
Trpm5	C	T	7: 143,089,019	A64T	probably benign	Het
Txk	A	C	5: 72,731,766	Y148*	probably null	Het
Uba5	C	T	9: 104,055,255	G170R	possibly damaging	Het
Uggt2	A	T	14: 119,086,175	D231E	probably benign	Het
Ulk4	A	T	9: 121,248,927	D525E	probably benign	Het
Vmn1r158	T	A	7: 22,790,224	T187S	probably benign	Het
Vmn1r52	T	A	6: 90,179,623	M303K	probably benign	Het
Vmn2r54	A	G	7: 12,622,117	F454S	probably benign	Het
Zbp1	A	T	2: 173,218,753	L8*	probably null	Het
Zmym2	A	T	14: 56,944,100	D924V	probably benign	Het

Other mutations in Slc7a11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00660:Slc7a11	APN	3	50427687	missense	probably benign	0.06
IGL00990:Slc7a11	APN	3	50379069	missense	probably damaging	1.00
IGL01755:Slc7a11	APN	3	50424067	missense	probably benign	0.39
IGL03105:Slc7a11	APN	3	50372339	missense	possibly damaging	0.67
IGL03141:Slc7a11	APN	3	50381885	missense	possibly damaging	0.66
R0468:Slc7a11	UTSW	3	50384051	missense	probably damaging	1.00
R0735:Slc7a11	UTSW	3	50424096	missense	probably benign	0.00
R1363:Slc7a11	UTSW	3	50424051	missense	probably damaging	1.00
R1466:Slc7a11	UTSW	3	50381073	splice site	probably null
R1466:Slc7a11	UTSW	3	50381073	splice site	probably null
R1554:Slc7a11	UTSW	3	50381896	missense	probably damaging	1.00
R1734:Slc7a11	UTSW	3	50372346	nonsense	probably null
R2128:Slc7a11	UTSW	3	50384109	missense	probably damaging	0.97
R2504:Slc7a11	UTSW	3	50377746	splice site	probably null
R3116:Slc7a11	UTSW	3	50384139	missense	probably benign	0.13
R3981:Slc7a11	UTSW	3	50427774	missense	probably benign
R4479:Slc7a11	UTSW	3	50417963	intron	probably benign
R5117:Slc7a11	UTSW	3	50379150	missense	probably damaging	0.99
R5586:Slc7a11	UTSW	3	50443083	missense	possibly damaging	0.95
R5621:Slc7a11	UTSW	3	50438875	missense	probably damaging	1.00
R5689:Slc7a11	UTSW	3	50372331	missense	probably benign	0.01
R5692:Slc7a11	UTSW	3	50372331	missense	probably benign	0.01
R5965:Slc7a11	UTSW	3	50379144	missense	probably benign	0.00
R6338:Slc7a11	UTSW	3	50384043	critical splice donor site	probably null
R7177:Slc7a11	UTSW	3	50443231	missense	probably benign	0.00
R7634:Slc7a11	UTSW	3	50424037	splice site	probably null
R7756:Slc7a11	UTSW	3	50372360	missense	probably benign
R7758:Slc7a11	UTSW	3	50372360	missense	probably benign
R7821:Slc7a11	UTSW	3	50381027	missense	probably damaging	1.00
R8112:Slc7a11	UTSW	3	50417991	missense	possibly damaging	0.92
R8218:Slc7a11	UTSW	3	50424052	missense	probably damaging	1.00
R8255:Slc7a11	UTSW	3	50427728	missense	probably damaging	0.98
R8318:Slc7a11	UTSW	3	50417986	critical splice donor site	probably null
R8396:Slc7a11	UTSW	3	50384129	missense	possibly damaging	0.78
R8857:Slc7a11	UTSW	3	50438856	missense	probably damaging	1.00
R8967:Slc7a11	UTSW	3	50384115	missense	probably benign	0.00
R9044:Slc7a11	UTSW	3	50379183	missense	probably benign	0.20
R9104:Slc7a11	UTSW	3	50377633	missense	probably benign	0.01
R9404:Slc7a11	UTSW	3	50381039	missense	possibly damaging	0.64
R9500:Slc7a11	UTSW	3	50427752	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTGGGTAGTGCACATACCTG -3'
(R):5'- CCAAAGGAGGTTACCTGCAG -3'

Sequencing Primer
(F):5'- TGGGTAGTGCACATACCTGAACAAC -3'
(R):5'- TTACCTGCAGGGCAATATGAGC -3'

Posted On

2019-09-13