Mutagenetix > Incidental Mutation

Incidental Mutation 'R2097:Slc7a4'

230336

Institutional Source

Beutler Lab

Gene Symbol

Slc7a4

Ensembl Gene

ENSMUSG00000022756

Gene Name

solute carrier family 7 (cationic amino acid transporter, y+ system), member 4

Synonyms

MMRRC Submission

040101-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.525) question?

Stock #

R2097 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17572018-17583214 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 17573455 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156098 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023441] [ENSMUST00000063544] [ENSMUST00000090165] [ENSMUST00000171002] [ENSMUST00000172164] [ENSMUST00000231283] [ENSMUST00000231552] [ENSMUST00000231615] [ENSMUST00000231645] [ENSMUST00000231806] [ENSMUST00000232186] [ENSMUST00000232226] [ENSMUST00000232336] [ENSMUST00000232385]

AlphaFold

Q8BLQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000023441

SMART Domains

Protein: ENSMUSP00000023441
Gene: ENSMUSG00000022758

Domain	Start	End	E-Value	Type
low complexity region	12	18	N/A	INTRINSIC
Pfam:P2X_receptor	25	385	7.9e-139	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000063544

SMART Domains

Protein: ENSMUSP00000067243
Gene: ENSMUSG00000022756

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	37	436	1.4e-49	PFAM
Pfam:AA_permease	41	426	9.4e-38	PFAM
transmembrane domain	476	498	N/A	INTRINSIC
transmembrane domain	508	530	N/A	INTRINSIC
Pfam:AA_permease_C	540	590	1.4e-23	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000090165

SMART Domains

Protein: ENSMUSP00000087627
Gene: ENSMUSG00000022756

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	37	368	1.2e-42	PFAM
Pfam:AA_permease	41	370	2.7e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116648

Predicted Effect

probably benign
Transcript: ENSMUST00000171002

SMART Domains

Protein: ENSMUSP00000132727
Gene: ENSMUSG00000022758

Domain	Start	End	E-Value	Type
low complexity region	12	18	N/A	INTRINSIC
Pfam:P2X_receptor	25	197	1e-65	PFAM
Pfam:P2X_receptor	185	362	7e-63	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000172164

SMART Domains

Protein: ENSMUSP00000127280
Gene: ENSMUSG00000022756

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	37	498	2.6e-46	PFAM
Pfam:AA_permease	41	423	4.5e-36	PFAM
transmembrane domain	508	530	N/A	INTRINSIC
Pfam:AA_permease_C	540	590	1.5e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231283

Predicted Effect

probably benign
Transcript: ENSMUST00000231552

Predicted Effect

probably null
Transcript: ENSMUST00000231615

Predicted Effect

probably benign
Transcript: ENSMUST00000231645

Predicted Effect

probably benign
Transcript: ENSMUST00000231806

Predicted Effect

probably benign
Transcript: ENSMUST00000232186

Predicted Effect

probably null
Transcript: ENSMUST00000232226

Predicted Effect

probably benign
Transcript: ENSMUST00000232336

Predicted Effect

probably null
Transcript: ENSMUST00000232385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232429

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	T	7: 131,181,964	R29*	probably null	Het
Actr8	T	C	14: 29,987,228	V263A	probably damaging	Het
Apol6	T	A	15: 77,047,133		probably null	Het
Aqp3	C	T	4: 41,098,004	V36M	possibly damaging	Het
Bace1	G	T	9: 45,860,222	C478F	probably benign	Het
Bbof1	C	A	12: 84,413,307	A116D	probably damaging	Het
Casq1	A	T	1: 172,210,421	L381Q	probably damaging	Het
Ccdc138	T	A	10: 58,561,937	L533*	probably null	Het
Cnga1	C	T	5: 72,619,061	V20I	possibly damaging	Het
Cntn6	A	G	6: 104,861,949	E988G	probably damaging	Het
Cts6	T	A	13: 61,195,445	N321Y	probably damaging	Het
Dnmt1	A	G	9: 20,909,788	S1269P	probably benign	Het
Dsg4	C	A	18: 20,471,044	P856H	probably damaging	Het
Fndc3a	C	A	14: 72,574,351		probably null	Het
Galc	T	C	12: 98,252,032	D187G	probably benign	Het
Gfm1	T	C	3: 67,449,746	I384T	probably damaging	Het
Hacd2	A	G	16: 35,048,720	I92V	probably benign	Het
Hmcn2	T	A	2: 31,380,419	Y1223N	probably damaging	Het
Il20ra	T	C	10: 19,759,463	I484T	probably damaging	Het
Map7	G	T	10: 20,246,616	V143F	probably damaging	Het
Mcm3ap	T	C	10: 76,512,489	L1893P	probably damaging	Het
Msh6	A	G	17: 87,985,416	N533S	probably benign	Het
Nbea	T	C	3: 55,723,217	D2233G	probably damaging	Het
Nlrp6	A	T	7: 140,923,204	T408S	probably damaging	Het
Notch3	A	T	17: 32,122,754	L2008Q	probably damaging	Het
Olfr1051	A	T	2: 86,276,039	Y149*	probably null	Het
Olfr603	T	A	7: 103,383,633	D123V	probably damaging	Het
Pggt1b	T	C	18: 46,246,628	N296D	probably benign	Het
Pglyrp3	T	A	3: 92,028,171	F243I	possibly damaging	Het
Phip	T	C	9: 82,915,339	H537R	possibly damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Ptpdc1	T	A	13: 48,592,659		probably null	Het
Ptprq	T	C	10: 107,653,493	T924A	probably benign	Het
Pwp2	C	A	10: 78,177,742		probably benign	Het
Tmem132b	T	A	5: 125,638,208	I327K	probably damaging	Het
Trim9	T	C	12: 70,347,159	M4V	probably damaging	Het
Tspan13	T	C	12: 36,021,830	S128G	probably benign	Het
Ttc25	T	A	11: 100,563,582	F398I	possibly damaging	Het
Zbtb20	A	G	16: 43,609,519	D131G	probably null	Het
Zeb2	A	T	2: 44,997,156	C615S	probably damaging	Het
Zfp777	C	T	6: 48,044,242	D149N	probably benign	Het
Zfp990	A	G	4: 145,537,322	K297E	possibly damaging	Het

Other mutations in Slc7a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02717:Slc7a4	APN	16	17574575	missense	possibly damaging	0.90
R0066:Slc7a4	UTSW	16	17574011	missense	probably benign	0.02
R0066:Slc7a4	UTSW	16	17574011	missense	probably benign	0.02
R0402:Slc7a4	UTSW	16	17575633	missense	probably damaging	1.00
R1426:Slc7a4	UTSW	16	17573944	critical splice donor site	probably null
R1926:Slc7a4	UTSW	16	17575704	missense	probably damaging	1.00
R2140:Slc7a4	UTSW	16	17574544	missense	possibly damaging	0.91
R4496:Slc7a4	UTSW	16	17575812	missense	probably damaging	1.00
R4548:Slc7a4	UTSW	16	17575345	missense	probably benign	0.01
R4570:Slc7a4	UTSW	16	17574277	missense	probably benign	0.00
R4631:Slc7a4	UTSW	16	17574391	missense	probably damaging	1.00
R4658:Slc7a4	UTSW	16	17575933	missense	probably damaging	1.00
R4825:Slc7a4	UTSW	16	17574521	missense	probably damaging	1.00
R5102:Slc7a4	UTSW	16	17575618	missense	probably damaging	1.00
R5364:Slc7a4	UTSW	16	17573363	missense	probably benign	0.33
R5650:Slc7a4	UTSW	16	17575684	missense	possibly damaging	0.94
R5666:Slc7a4	UTSW	16	17575951	utr 5 prime	probably benign
R5944:Slc7a4	UTSW	16	17574356	missense	possibly damaging	0.95
R6769:Slc7a4	UTSW	16	17575320	missense	possibly damaging	0.72
R7381:Slc7a4	UTSW	16	17575056	missense	probably damaging	0.99
R7470:Slc7a4	UTSW	16	17575113	missense	probably benign	0.07
R7903:Slc7a4	UTSW	16	17575281	missense	probably benign	0.00
R7922:Slc7a4	UTSW	16	17573366	missense	probably benign	0.36
R8003:Slc7a4	UTSW	16	17574451	missense	possibly damaging	0.94
R9300:Slc7a4	UTSW	16	17574535	missense	probably benign	0.22
R9452:Slc7a4	UTSW	16	17573407	missense	probably damaging	0.98
R9569:Slc7a4	UTSW	16	17575398	missense
R9674:Slc7a4	UTSW	16	17574344	missense	probably benign	0.00

Predicted Primers

Posted On

2014-09-18