Mutagenetix > Incidental Mutations

Incidental Mutation 'R5449:Slc7a5'

429227

Institutional Source

Beutler Lab

Gene Symbol

Slc7a5

Ensembl Gene

ENSMUSG00000040010

Gene Name

solute carrier family 7 (cationic amino acid transporter, y+ system), member 5

Synonyms

TA1, D0H16S474E, LAT1

MMRRC Submission

043014-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5449 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121881150-121907694 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 121886348 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Cysteine at position 330 (W330C)

Ref Sequence

ENSEMBL: ENSMUSP00000041557 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045557] [ENSMUST00000127664]

Predicted Effect

probably damaging
Transcript: ENSMUST00000045557
AA Change: W330C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041557
Gene: ENSMUSG00000040010
AA Change: W330C

Domain	Start	End	E-Value	Type
low complexity region	4	27	N/A	INTRINSIC
Pfam:AA_permease_2	51	481	4.2e-65	PFAM
Pfam:AA_permease	56	489	1.6e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183015

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted mutation die prenatally. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	G	A	19: 5,503,264	T163M	probably benign	Het
4921539E11Rik	T	A	4: 103,266,382	I98F	probably benign	Het
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
A630010A05Rik	A	G	16: 14,618,673	K197E	possibly damaging	Het
Agrn	A	G	4: 156,167,280		probably null	Het
Atad5	A	G	11: 80,124,108	I1337V	probably damaging	Het
Cd44	T	C	2: 102,832,546	T550A	probably damaging	Het
Cdk5rap2	A	C	4: 70,276,651	L952V	probably benign	Het
Cep104	T	A	4: 153,985,305		probably null	Het
Cfl1	A	G	19: 5,493,493	*167W	probably null	Het
Col22a1	T	C	15: 71,821,949	D734G	unknown	Het
Cry1	G	A	10: 85,133,135	L581F	probably benign	Het
Dmpk	A	G	7: 19,090,991	D406G	probably benign	Het
Faah	T	C	4: 115,999,495		probably null	Het
Fchsd2	T	C	7: 101,277,524	F607S	probably damaging	Het
Fga	CAAAG	CAAAGAAAG	3: 83,030,862		probably null	Het
Hdac5	G	A	11: 102,196,097	Q46*	probably null	Het
Hltf	A	G	3: 20,069,083	T212A	possibly damaging	Het
Ilvbl	G	A	10: 78,577,028		probably null	Het
Ldhc	T	C	7: 46,869,658	S102P	possibly damaging	Het
Med12l	T	C	3: 59,259,706	V1529A	probably damaging	Het
Nlrp9a	A	G	7: 26,557,829	I202V	probably benign	Het
Pdc	A	C	1: 150,333,439	L224F	probably damaging	Het
Pgr	T	C	9: 8,956,343	V764A	possibly damaging	Het
Plxna1	T	C	6: 89,323,608	D1578G	probably damaging	Het
Prpf40a	G	T	2: 53,156,926	T266N	possibly damaging	Het
Ptrh1	A	G	2: 32,776,346	S37G	probably damaging	Het
Rgs9	T	C	11: 109,225,744	D411G	probably benign	Het
Riok3	A	T	18: 12,155,246	E493D	probably damaging	Het
Rnf213	T	C	11: 119,415,076	M570T	probably benign	Het
Scamp2	A	G	9: 57,580,871	D187G	probably damaging	Het
Scn1a	T	A	2: 66,321,002	I819F	probably damaging	Het
Syn3	A	T	10: 86,351,570	F230Y	probably damaging	Het
Tmem8b	G	A	4: 43,673,992	V208I	probably benign	Het
Tro	T	C	X: 150,645,970		probably benign	Het
Ubr1	T	A	2: 120,963,500	M68L	probably benign	Het
Vmn1r120	A	C	7: 21,053,149	H212Q	possibly damaging	Het
Vmn1r46	T	C	6: 89,976,361	V64A	probably benign	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Wee1	TCCCC	TCCC	7: 110,124,569		probably null	Het
Zfp384	T	C	6: 125,024,138	S58P	probably damaging	Het

Other mutations in Slc7a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02192:Slc7a5	APN	8	121886390	intron	probably benign
R0364:Slc7a5	UTSW	8	121885015	missense	probably benign
R0580:Slc7a5	UTSW	8	121885116	missense	probably benign	0.21
R0965:Slc7a5	UTSW	8	121907101	missense	probably benign	0.01
R1274:Slc7a5	UTSW	8	121883714	missense	probably benign	0.44
R2135:Slc7a5	UTSW	8	121883705	missense	probably null	0.96
R4163:Slc7a5	UTSW	8	121888400	missense	probably benign	0.00
R4506:Slc7a5	UTSW	8	121887495	critical splice donor site	probably null
R4910:Slc7a5	UTSW	8	121885122	missense	probably damaging	0.96
R5243:Slc7a5	UTSW	8	121896535	missense	probably damaging	1.00
R5719:Slc7a5	UTSW	8	121883642	missense	probably benign	0.00
R5744:Slc7a5	UTSW	8	121888382	missense	probably benign	0.00
R7473:Slc7a5	UTSW	8	121888423	missense	probably benign
R7499:Slc7a5	UTSW	8	121883722	missense	probably damaging	1.00
R7663:Slc7a5	UTSW	8	121887535	nonsense	probably null
R7680:Slc7a5	UTSW	8	121907267	missense	probably damaging	1.00
R7682:Slc7a5	UTSW	8	121907140	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGGGCTGTACCTTACTTCTAGC -3'
(R):5'- CTACAACAAGACTCGGGGATGG -3'

Sequencing Primer
(F):5'- TAGCCCATCGAAGCATTCTATC -3'
(R):5'- GAGACGCTGTGTGTTCCCTC -3'

Posted On

2016-09-06