Mutagenetix > Incidental Mutation

Incidental Mutation 'R4163:Slc7a5'

321611

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

D0H16S474E, Gm42049, TA1, LAT1

MMRRC Submission

041006-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4163 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122607885-122634425 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122615139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 236 (L236S)

Ref Sequence

ENSEMBL: ENSMUSP00000041557 (fasta)

Gene Model

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

AlphaFold

Q9Z127

Predicted Effect

probably benign
Transcript: ENSMUST00000045557
AA Change: L236S

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

SMART Domains

Protein: ENSMUSP00000041557
Gene: ENSMUSG00000040010
AA Change: L236S

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (59/59)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930555F03Rik	G	A	8: 49,948,531 (GRCm39)		noncoding transcript	Het
Abca8a	C	T	11: 109,941,808 (GRCm39)	D1154N	probably benign	Het
Adgrf4	A	G	17: 42,978,477 (GRCm39)	F289L	probably benign	Het
Alkbh2	A	G	5: 114,265,613 (GRCm39)	L63S	probably damaging	Het
Atp13a4	A	T	16: 29,360,068 (GRCm39)	N19K	possibly damaging	Het
Birc6	T	A	17: 74,933,975 (GRCm39)	Y2544N	probably damaging	Het
Bnip5	T	C	17: 29,118,503 (GRCm39)	Y643C	probably benign	Het
Bpifa3	A	G	2: 153,977,516 (GRCm39)	N118S	probably damaging	Het
Chst10	T	A	1: 38,910,904 (GRCm39)	M87L	probably benign	Het
Cnot9	C	T	1: 74,568,006 (GRCm39)	P298L	probably damaging	Het
Cops5	T	C	1: 10,100,912 (GRCm39)	Y228C	probably damaging	Het
Dcaf8	T	G	1: 172,020,137 (GRCm39)	L492R	probably damaging	Het
Dis3l2	A	G	1: 86,748,959 (GRCm39)	S128G	probably benign	Het
Dock1	A	G	7: 134,346,051 (GRCm39)	R198G	possibly damaging	Het
Elovl7	T	A	13: 108,403,904 (GRCm39)	M82K	possibly damaging	Het
Entrep1	G	A	19: 23,952,993 (GRCm39)	A439V	probably damaging	Het
Entrep1	C	T	19: 23,953,002 (GRCm39)	S436N	probably damaging	Het
Fcgr2b	T	C	1: 170,791,016 (GRCm39)	D259G	possibly damaging	Het
Flnb	A	T	14: 7,915,374 (GRCm38)	I1502F	possibly damaging	Het
Frk	C	T	10: 34,467,868 (GRCm39)	P294L	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm128	C	A	3: 95,147,802 (GRCm39)	R164L	probably benign	Het
Gm2223	C	T	X: 32,943,247 (GRCm39)		noncoding transcript	Het
Hexd	C	A	11: 121,111,975 (GRCm39)	A423E	probably benign	Het
Itgax	G	T	7: 127,743,872 (GRCm39)	V878F	probably benign	Het
Kank2	A	T	9: 21,706,864 (GRCm39)	D51E	probably damaging	Het
Kcna4	G	C	2: 107,126,151 (GRCm39)	W295S	probably damaging	Het
Mfsd12	A	G	10: 81,196,931 (GRCm39)		probably null	Het
Mis12	A	G	11: 70,916,482 (GRCm39)	T172A	probably benign	Het
Myo10	T	A	15: 25,726,501 (GRCm39)		probably null	Het
Myo18a	G	T	11: 77,720,534 (GRCm39)	R1103L	possibly damaging	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Ntrk2	T	C	13: 59,008,054 (GRCm39)	V272A	probably damaging	Het
Or2ag17	A	T	7: 106,389,486 (GRCm39)	C241S	probably damaging	Het
Or5p64	A	T	7: 107,855,039 (GRCm39)	I102N	probably benign	Het
Or7e165	A	T	9: 19,695,086 (GRCm39)	Y219F	possibly damaging	Het
Pcdh20	C	T	14: 88,705,615 (GRCm39)	D562N	probably damaging	Het
Prep	T	C	10: 44,943,436 (GRCm39)	F4L	probably benign	Het
Prep	G	T	10: 44,943,458 (GRCm39)	R11L	possibly damaging	Het
Ptgs1	C	T	2: 36,141,346 (GRCm39)	R598C	possibly damaging	Het
Rasgrp1	T	C	2: 117,113,135 (GRCm39)	D759G	probably benign	Het
Setd5	T	C	6: 113,096,545 (GRCm39)	S584P	probably benign	Het
Shank3	A	G	15: 89,433,797 (GRCm39)	D1514G	probably damaging	Het
Shox2	T	C	3: 66,881,104 (GRCm39)		probably benign	Het
Slc44a5	A	T	3: 153,967,010 (GRCm39)	R565S	possibly damaging	Het
Slfn3	A	T	11: 83,103,596 (GRCm39)	I156F	probably damaging	Het
Spout1	C	T	2: 30,067,589 (GRCm39)		probably benign	Het
Trim72	T	C	7: 127,607,080 (GRCm39)	V203A	probably benign	Het
Vrk2	T	A	11: 26,497,915 (GRCm39)	I90L	probably benign	Het
Zc3h12c	A	T	9: 52,026,999 (GRCm39)	Y788N	probably damaging	Het
Zfp831	A	G	2: 174,485,822 (GRCm39)	T166A	possibly damaging	Het

Other mutations in Slc7a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02192:Slc7a5	APN	8	122,613,129 (GRCm39)	intron	probably benign
R0364:Slc7a5	UTSW	8	122,611,754 (GRCm39)	missense	probably benign
R0580:Slc7a5	UTSW	8	122,611,855 (GRCm39)	missense	probably benign	0.21
R0965:Slc7a5	UTSW	8	122,633,840 (GRCm39)	missense	probably benign	0.01
R1274:Slc7a5	UTSW	8	122,610,453 (GRCm39)	missense	probably benign	0.44
R2135:Slc7a5	UTSW	8	122,610,444 (GRCm39)	missense	probably null	0.96
R4506:Slc7a5	UTSW	8	122,614,234 (GRCm39)	critical splice donor site	probably null
R4910:Slc7a5	UTSW	8	122,611,861 (GRCm39)	missense	probably damaging	0.96
R5243:Slc7a5	UTSW	8	122,623,274 (GRCm39)	missense	probably damaging	1.00
R5449:Slc7a5	UTSW	8	122,613,087 (GRCm39)	missense	probably damaging	1.00
R5719:Slc7a5	UTSW	8	122,610,381 (GRCm39)	missense	probably benign	0.00
R5744:Slc7a5	UTSW	8	122,615,121 (GRCm39)	missense	probably benign	0.00
R7473:Slc7a5	UTSW	8	122,615,162 (GRCm39)	missense	probably benign
R7499:Slc7a5	UTSW	8	122,610,461 (GRCm39)	missense	probably damaging	1.00
R7663:Slc7a5	UTSW	8	122,614,274 (GRCm39)	nonsense	probably null
R7680:Slc7a5	UTSW	8	122,634,006 (GRCm39)	missense	probably damaging	1.00
R7682:Slc7a5	UTSW	8	122,633,879 (GRCm39)	missense	probably damaging	0.99
R8382:Slc7a5	UTSW	8	122,612,691 (GRCm39)	missense	probably damaging	1.00
R8405:Slc7a5	UTSW	8	122,613,661 (GRCm39)	missense	possibly damaging	0.89
R8551:Slc7a5	UTSW	8	122,613,050 (GRCm39)	missense	probably damaging	0.99
R9513:Slc7a5	UTSW	8	122,613,616 (GRCm39)	missense	probably benign	0.00
R9727:Slc7a5	UTSW	8	122,613,085 (GRCm39)	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- TCACCCCTGTATGGTCAGAG -3'
(R):5'- TAATCCTCTTAAGTGGCCAGGG -3'

Sequencing Primer
(F):5'- GAGCACTGAGATTCTGAGCACATC -3'
(R):5'- TCAGGTCAGATGGCCAGTC -3'

Posted On

2015-06-12