Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01067:Slc1a5'

51440

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc1a5

Ensembl Gene

ENSMUSG00000001918

Gene Name

solute carrier family 1 (neutral amino acid transporter), member 5

Synonyms

ASCT2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

IGL01067

Quality Score

Status

Chromosome

Chromosomal Location

16515265-16532199 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 16520804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 224 (C224*)

Ref Sequence

ENSEMBL: ENSMUSP00000104136 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108496]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000108496
AA Change: C224*

SMART Domains

Protein: ENSMUSP00000104136
Gene: ENSMUSG00000001918
AA Change: C224*

Domain	Start	End	E-Value	Type
Pfam:SDF	55	499	1.5e-122	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127401

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131664

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135817

SMART Domains

Protein: ENSMUSP00000116654
Gene: ENSMUSG00000001918

Domain	Start	End	E-Value	Type
Pfam:SDF	3	139	7e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206444

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The SLC1A5 gene encodes a sodium-dependent neutral amino acid transporter that can act as a receptor for RD114/type D retrovirus (Larriba et al., 2001 [PubMed 11781704]).[supplied by OMIM, Jan 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced B cells, CD4+ memory T cells in older mice, Th1 and Th17 T cells, susceptibility to EAE and T cell uptake of glutamine and leucine. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
A330008L17Rik	T	C	8: 100,148,586 (GRCm39)		noncoding transcript	Het
Acp4	C	T	7: 43,902,876 (GRCm39)	V331I	probably benign	Het
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Alg6	T	C	4: 99,629,807 (GRCm39)	V128A	probably benign	Het
Ank3	A	G	10: 69,686,026 (GRCm39)	K280E	probably damaging	Het
Bfar	T	C	16: 13,503,105 (GRCm39)	C36R	probably damaging	Het
Car14	A	G	3: 95,806,128 (GRCm39)	I311T	probably damaging	Het
Cd300c	T	C	11: 114,851,253 (GRCm39)		probably benign	Het
Cfap100	T	A	6: 90,383,096 (GRCm39)	E513V	probably damaging	Het
Clip1	C	A	5: 123,768,867 (GRCm39)	K612N	probably damaging	Het
Depdc5	A	G	5: 33,056,411 (GRCm39)		probably null	Het
Dock3	A	T	9: 106,959,572 (GRCm39)		probably null	Het
Dph6	A	T	2: 114,478,290 (GRCm39)	M17K	probably damaging	Het
Enkur	T	C	2: 21,194,042 (GRCm39)	Q177R	probably benign	Het
Faap100	T	C	11: 120,262,958 (GRCm39)	H800R	probably damaging	Het
Fastkd2	T	G	1: 63,776,930 (GRCm39)		probably benign	Het
Fcgr2b	A	T	1: 170,795,622 (GRCm39)	N102K	possibly damaging	Het
Fezf1	C	T	6: 23,247,842 (GRCm39)	V78I	possibly damaging	Het
Fmn2	A	T	1: 174,330,885 (GRCm39)	D425V	unknown	Het
Fnta	G	A	8: 26,497,229 (GRCm39)	Q207*	probably null	Het
Fpr3	T	A	17: 18,190,828 (GRCm39)	V33D	probably benign	Het
Fshr	C	T	17: 89,292,821 (GRCm39)	C619Y	possibly damaging	Het
Gbp3	T	C	3: 142,272,358 (GRCm39)		probably null	Het
Gjb2	A	G	14: 57,337,629 (GRCm39)	V193A	possibly damaging	Het
Il4ra	A	G	7: 125,174,333 (GRCm39)	T292A	probably benign	Het
Lama5	A	G	2: 179,818,336 (GRCm39)		probably benign	Het
Marveld3	G	T	8: 110,688,596 (GRCm39)	D48E	possibly damaging	Het
Meox1	A	T	11: 101,784,599 (GRCm39)	I78N	probably benign	Het
Ncor1	A	T	11: 62,283,354 (GRCm39)	H444Q	probably damaging	Het
Ndst3	T	C	3: 123,340,466 (GRCm39)	Q784R	probably damaging	Het
Or10ag2	A	G	2: 87,248,714 (GRCm39)	I107M	probably benign	Het
Or4k44	T	A	2: 111,368,359 (GRCm39)	I92F	probably damaging	Het
Pld5	A	T	1: 176,102,445 (GRCm39)		probably benign	Het
Plk1	G	A	7: 121,768,148 (GRCm39)	R456H	probably damaging	Het
Polr2a	T	A	11: 69,638,840 (GRCm39)	I65F	possibly damaging	Het
Ptprd	T	A	4: 75,977,922 (GRCm39)	I196F	probably damaging	Het
Qsox2	T	C	2: 26,118,408 (GRCm39)	N121S	probably damaging	Het
Reln	A	G	5: 22,184,664 (GRCm39)	L1617S	probably damaging	Het
Rragc	T	C	4: 123,823,761 (GRCm39)	F345L	probably benign	Het
Sass6	A	T	3: 116,407,605 (GRCm39)	E240D	possibly damaging	Het
Shcbp1l	A	C	1: 153,311,770 (GRCm39)	S308R	possibly damaging	Het
Slc27a5	T	C	7: 12,722,999 (GRCm39)	E567G	probably damaging	Het
Synj2	T	A	17: 6,088,201 (GRCm39)	N1417K	possibly damaging	Het
Tbc1d9	A	G	8: 83,960,791 (GRCm39)	T214A	probably damaging	Het
Tjp3	C	A	10: 81,109,699 (GRCm39)	V835L	probably benign	Het
Trpc4	C	A	3: 54,129,983 (GRCm39)	Q250K	probably benign	Het
Ttn	A	T	2: 76,575,506 (GRCm39)	I25129N	probably damaging	Het
Ube4a	T	A	9: 44,856,163 (GRCm39)	Y523F	probably damaging	Het
Zfp971	G	A	2: 177,665,175 (GRCm39)		probably null	Het

Other mutations in Slc1a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Slc1a5	APN	7	16,529,787 (GRCm39)	missense	probably damaging	1.00
IGL02388:Slc1a5	APN	7	16,519,644 (GRCm39)	critical splice donor site	probably null
IGL02863:Slc1a5	APN	7	16,527,646 (GRCm39)	missense	probably benign
IGL03149:Slc1a5	APN	7	16,523,745 (GRCm39)	missense	probably damaging	0.96
R0001:Slc1a5	UTSW	7	16,527,562 (GRCm39)	splice site	probably null
R0368:Slc1a5	UTSW	7	16,516,103 (GRCm39)	missense	probably damaging	1.00
R0690:Slc1a5	UTSW	7	16,520,829 (GRCm39)	missense	probably benign
R1430:Slc1a5	UTSW	7	16,516,328 (GRCm39)	missense	probably benign	0.00
R1769:Slc1a5	UTSW	7	16,531,464 (GRCm39)	missense	probably damaging	1.00
R4058:Slc1a5	UTSW	7	16,529,778 (GRCm39)	missense	probably damaging	0.98
R4944:Slc1a5	UTSW	7	16,531,668 (GRCm39)	utr 3 prime	probably benign
R5220:Slc1a5	UTSW	7	16,527,759 (GRCm39)	missense	probably damaging	1.00
R5976:Slc1a5	UTSW	7	16,529,807 (GRCm39)	missense	probably damaging	1.00
R5986:Slc1a5	UTSW	7	16,516,151 (GRCm39)	missense	probably benign	0.26
R7171:Slc1a5	UTSW	7	16,531,463 (GRCm39)	missense	probably damaging	1.00
R7270:Slc1a5	UTSW	7	16,519,623 (GRCm39)	missense	probably damaging	1.00
R7345:Slc1a5	UTSW	7	16,530,085 (GRCm39)	critical splice donor site	probably null
R7630:Slc1a5	UTSW	7	16,529,732 (GRCm39)	missense	probably damaging	1.00
R7920:Slc1a5	UTSW	7	16,527,795 (GRCm39)	missense	probably damaging	1.00
R7944:Slc1a5	UTSW	7	16,523,807 (GRCm39)	missense	possibly damaging	0.50
R7945:Slc1a5	UTSW	7	16,523,807 (GRCm39)	missense	possibly damaging	0.50
R8221:Slc1a5	UTSW	7	16,515,902 (GRCm39)	missense	probably benign	0.05
R9709:Slc1a5	UTSW	7	16,527,729 (GRCm39)	missense	probably benign	0.40
Z1088:Slc1a5	UTSW	7	16,531,594 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21