Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01295:Slc1a5'

73063

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

Is this an essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

IGL01295

Quality Score

Status

Chromosome

Chromosomal Location

16781340-16798274 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16795862 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 402 (D402G)

Ref Sequence

ENSEMBL: ENSMUSP00000104136 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000108496
AA Change: D402G

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

SMART Domains

Protein: ENSMUSP00000104136
Gene: ENSMUSG00000001918
AA Change: D402G

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: ENSMUST00000134407

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: ENSMUST00000141349

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147814

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,661,936	L691I	possibly damaging	Het
Ano7	A	G	1: 93,380,478	D77G	probably benign	Het
Apol10b	A	T	15: 77,585,596	V127E	probably damaging	Het
Apol11b	G	A	15: 77,638,019	T26M	probably damaging	Het
Atn1	T	C	6: 124,749,276	E80G	probably damaging	Het
Carmil2	T	C	8: 105,695,516	M1139T	probably benign	Het
Cd4	G	A	6: 124,879,378	T50I	probably benign	Het
Celf5	G	T	10: 81,467,080		probably benign	Het
Chd6	G	A	2: 160,988,370		probably benign	Het
Col12a1	A	T	9: 79,643,926	V2136E	probably damaging	Het
Col4a1	G	T	8: 11,236,075		probably benign	Het
Dph1	A	G	11: 75,180,949		probably benign	Het
Dvl2	G	T	11: 70,009,584	V735F	possibly damaging	Het
Eif3b	A	G	5: 140,441,740	I709V	possibly damaging	Het
Elp5	C	T	11: 69,968,470		probably benign	Het
Exd1	A	T	2: 119,530,079		probably benign	Het
Fbxl4	C	A	4: 22,427,348	R530S	probably benign	Het
Fmo4	A	T	1: 162,799,124	D284E	probably damaging	Het
Fn3krp	A	G	11: 121,421,554	Y31C	probably damaging	Het
Galnt14	G	T	17: 73,504,919	Q436K	probably benign	Het
Gm5114	A	T	7: 39,407,817	W793R	probably damaging	Het
Gm9376	T	G	14: 118,267,647	S164A	possibly damaging	Het
Gtf2ird2	G	A	5: 134,192,764	D69N	probably damaging	Het
Hfm1	A	C	5: 106,917,606	M69R	possibly damaging	Het
Ighv9-1	A	C	12: 114,093,999	S94A	probably damaging	Het
Ikzf2	C	T	1: 69,577,987	R67H	probably benign	Het
Ipcef1	A	T	10: 6,900,642	F316L	probably damaging	Het
Kdsr	A	G	1: 106,755,457	V62A	possibly damaging	Het
Kif23	A	T	9: 61,932,129	C279S	possibly damaging	Het
Klf5	C	T	14: 99,301,721	T110I	probably benign	Het
Klhl25	T	A	7: 75,865,872	H175Q	probably benign	Het
Malrd1	G	A	2: 16,101,957		probably null	Het
Nfatc4	T	C	14: 55,832,505	V710A	probably benign	Het
Olfr1404	A	T	1: 173,215,873	Y74F	probably damaging	Het
Olfr68	C	T	7: 103,778,241	V35I	probably benign	Het
Optn	G	A	2: 5,033,156	T409I	possibly damaging	Het
Pabpc2	T	A	18: 39,774,029	Y116N	probably damaging	Het
Pafah1b1	G	T	11: 74,683,647	R238S	probably damaging	Het
Pdzd9	C	T	7: 120,668,395	G66R	probably damaging	Het
Pih1d1	T	C	7: 45,159,964	L285P	probably damaging	Het
Pirb	G	A	7: 3,717,406	P323S	probably damaging	Het
Pkd1l1	A	G	11: 8,933,685	F396L	possibly damaging	Het
Pla2g4d	G	A	2: 120,281,726	T108M	probably damaging	Het
Plin3	T	C	17: 56,279,814	Y411C	probably damaging	Het
Ppfibp2	T	C	7: 107,747,539		probably benign	Het
Prrc2c	T	C	1: 162,682,492	S995G	probably damaging	Het
Ptf1a	T	C	2: 19,446,618	I253T	probably damaging	Het
Ptprb	A	G	10: 116,362,648	I1684V	probably benign	Het
Ptprk	G	A	10: 28,475,178	V556I	probably benign	Het
Rffl	A	T	11: 82,818,457	C47S	probably damaging	Het
Rnf17	C	T	14: 56,463,064	Q569*	probably null	Het
Shprh	A	G	10: 11,183,868	E1121G	probably damaging	Het
Slc24a3	G	A	2: 145,616,714		probably null	Het
Slc2a13	T	A	15: 91,350,132		probably null	Het
Slc30a8	A	T	15: 52,306,559	N61Y	possibly damaging	Het
Slitrk6	A	T	14: 110,751,436	S280T	possibly damaging	Het
Smad2	G	A	18: 76,302,430	A365T	probably benign	Het
Tcp10b	C	T	17: 13,080,160	P367S	probably damaging	Het
Tdp1	A	G	12: 99,891,670	N163D	probably benign	Het
Thbs1	A	G	2: 118,118,327	D488G	possibly damaging	Het
Trappc12	C	T	12: 28,746,762	S257N	probably damaging	Het
Treml1	T	C	17: 48,365,599		probably benign	Het
Ugt2b36	A	G	5: 87,080,885	V234A	probably damaging	Het
Vmn2r86	T	G	10: 130,453,026	H202P	probably damaging	Het
Vmn2r87	C	A	10: 130,472,009	V787F	probably damaging	Het
Wbp2nl	T	A	15: 82,306,418	M129K	probably damaging	Het
Zdhhc15	T	C	X: 104,544,913		probably null	Het

Other mutations in Slc1a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Slc1a5	APN	7	16786879	nonsense	probably null
IGL02388:Slc1a5	APN	7	16785719	critical splice donor site	probably null
IGL02863:Slc1a5	APN	7	16793721	missense	probably benign
IGL03149:Slc1a5	APN	7	16789820	missense	probably damaging	0.96
R0001:Slc1a5	UTSW	7	16793637	splice site	probably null
R0368:Slc1a5	UTSW	7	16782178	missense	probably damaging	1.00
R0690:Slc1a5	UTSW	7	16786904	missense	probably benign
R1430:Slc1a5	UTSW	7	16782403	missense	probably benign	0.00
R1769:Slc1a5	UTSW	7	16797539	missense	probably damaging	1.00
R4058:Slc1a5	UTSW	7	16795853	missense	probably damaging	0.98
R4944:Slc1a5	UTSW	7	16797743	utr 3 prime	probably benign
R5220:Slc1a5	UTSW	7	16793834	missense	probably damaging	1.00
R5976:Slc1a5	UTSW	7	16795882	missense	probably damaging	1.00
R5986:Slc1a5	UTSW	7	16782226	missense	probably benign	0.26
R7171:Slc1a5	UTSW	7	16797538	missense	probably damaging	1.00
R7270:Slc1a5	UTSW	7	16785698	missense	probably damaging	1.00
R7345:Slc1a5	UTSW	7	16796160	critical splice donor site	probably null
R7630:Slc1a5	UTSW	7	16795807	missense	probably damaging	1.00
Z1088:Slc1a5	UTSW	7	16797669	missense	probably damaging	1.00

Posted On

2013-10-07