Mutagenetix > Incidental Mutations

Incidental Mutation 'R4506:Slc7a5'

332019

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

041584-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4506 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121881150-121907694 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 121887495 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000041557 (fasta)

Gene Model

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

AlphaFold

Q9Z127

Predicted Effect

probably null
Transcript: ENSMUST00000045557

SMART Domains

Protein: ENSMUSP00000041557
Gene: ENSMUSG00000040010

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

Meta Mutation Damage Score

0.9594

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (42/43)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,261	P137T	probably damaging	Het
Abcc5	A	T	16: 20,333,695	I1367N	probably damaging	Het
Ace	T	A	11: 105,976,666	L152Q	probably damaging	Het
Adam19	G	A	11: 46,118,444	D232N	possibly damaging	Het
Anapc4	A	T	5: 52,835,730	N61I	possibly damaging	Het
Ap5m1	T	C	14: 49,073,761	V96A	probably damaging	Het
Atr	T	A	9: 95,865,237	C191S	probably benign	Het
Carmil3	GGACGA	GGA	14: 55,499,476		probably benign	Het
Cnot6l	A	T	5: 96,086,174	V326E	possibly damaging	Het
Fcer2a	A	T	8: 3,688,603		probably null	Het
Fgfr3	A	G	5: 33,729,999	T221A	probably damaging	Het
Gm6632	C	T	5: 59,054,478		noncoding transcript	Het
Gm8909	A	T	17: 36,161,480		probably benign	Het
Gpr158	T	A	2: 21,826,999	M970K	probably damaging	Het
Ip6k3	A	T	17: 27,145,180	L298Q	possibly damaging	Het
Itpr1	A	G	6: 108,432,686	D1727G	probably damaging	Het
Kdm2b	T	C	5: 122,888,625	T589A	possibly damaging	Het
Krtcap2	A	G	3: 89,246,256		probably benign	Het
Map3k13	A	G	16: 21,922,178	S752G	probably benign	Het
Mvb12a	G	T	8: 71,543,459	A86S	probably benign	Het
Nktr	T	A	9: 121,748,883		probably benign	Het
Olfr160	C	T	9: 37,711,464	V272I	probably benign	Het
Olfr393	A	T	11: 73,847,695	C143*	probably null	Het
Parp4	T	A	14: 56,652,304	N1847K	unknown	Het
Pcdhga8	G	C	18: 37,816,763	V411L	probably damaging	Het
Piwil4	T	C	9: 14,725,963	T352A	probably damaging	Het
Ric8a	A	G	7: 140,858,516	I223V	probably benign	Het
Slc25a51	C	T	4: 45,399,768	V141M	probably benign	Het
Slc7a9	A	T	7: 35,453,420	T88S	probably damaging	Het
Tbrg1	T	A	9: 37,654,395	E87V	probably damaging	Het
Tnfsf4	T	C	1: 161,417,174	S145P	probably damaging	Het
Tomm34	C	A	2: 164,054,372		probably null	Het
Trpv3	A	G	11: 73,295,324	N647S	probably benign	Het
Upf1	G	A	8: 70,337,566	R637C	probably damaging	Het
Vmn2r23	A	T	6: 123,702,925	Q35H	probably damaging	Het
Wdtc1	C	T	4: 133,308,819	V137M	probably damaging	Het
Zfp276	G	A	8: 123,264,927		probably null	Het
Zfp90	C	T	8: 106,424,864	P403L	possibly 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
R4910:Slc7a5	UTSW	8	121885122	missense	probably damaging	0.96
R5243:Slc7a5	UTSW	8	121896535	missense	probably damaging	1.00
R5449:Slc7a5	UTSW	8	121886348	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
R8382:Slc7a5	UTSW	8	121885952	missense	probably damaging	1.00
R8405:Slc7a5	UTSW	8	121886922	missense	possibly damaging	0.89
R8551:Slc7a5	UTSW	8	121886311	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGTGCATACCCTAGACAAGTC -3'
(R):5'- TAGAGTGAGGAGCTGGTTCC -3'

Sequencing Primer
(F):5'- TAGACAAGTCCCCTCCAGCTG -3'
(R):5'- AGGGCTTCACATCCTGACTGTAAG -3'

Posted On

2015-07-21