Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02388:Slc1a5'

291652

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?

Possibly non essential (E-score: 0.291) question?

Stock #

IGL02388

Quality Score

Status

Chromosome

Chromosomal Location

16515265-16532199 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 16519644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000104136
Gene: ENSMUSG00000001918

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930597O21Rik	A	T	6: 66,873,097 (GRCm39)		probably benign	Het
Abca8a	A	G	11: 109,969,641 (GRCm39)		probably benign	Het
Asphd1	A	T	7: 126,545,884 (GRCm39)		probably benign	Het
Ccdc77	G	A	6: 120,308,858 (GRCm39)	A301V	probably benign	Het
Cep350	G	T	1: 155,829,499 (GRCm39)	T135K	probably benign	Het
Chrna7	A	T	7: 62,757,439 (GRCm39)	D153E	probably damaging	Het
Clec4b2	G	T	6: 123,179,187 (GRCm39)		probably null	Het
Cyp2c67	T	C	19: 39,631,799 (GRCm39)	N133D	probably benign	Het
Dglucy	T	C	12: 100,823,257 (GRCm39)	I484T	probably damaging	Het
Dtna	G	T	18: 23,730,571 (GRCm39)	M319I	probably benign	Het
E2f5	T	A	3: 14,653,340 (GRCm39)	M152K	probably benign	Het
Emsy	A	T	7: 98,290,873 (GRCm39)	M58K	probably damaging	Het
Epha1	A	G	6: 42,341,950 (GRCm39)	Y367H	probably damaging	Het
Etv1	A	G	12: 38,831,798 (GRCm39)	S32G	possibly damaging	Het
Fam114a1	A	T	5: 65,166,323 (GRCm39)		probably benign	Het
Fbxo30	T	A	10: 11,166,122 (GRCm39)	N281K	probably benign	Het
Galnt12	G	T	4: 47,117,941 (GRCm39)	R412L	probably damaging	Het
Gm5786	T	A	12: 59,128,382 (GRCm39)		noncoding transcript	Het
Gm9845	T	C	3: 39,412,616 (GRCm39)		noncoding transcript	Het
Hecw2	A	G	1: 53,964,858 (GRCm39)	V656A	probably benign	Het
Hpse2	A	T	19: 43,282,692 (GRCm39)	V187D	probably damaging	Het
Itsn2	T	A	12: 4,679,557 (GRCm39)	M122K	possibly damaging	Het
Kcnj11	A	G	7: 45,749,213 (GRCm39)	S37P	probably benign	Het
Kif13b	T	C	14: 65,037,807 (GRCm39)	I1491T	probably damaging	Het
Krt36	T	A	11: 99,995,990 (GRCm39)	K145*	probably null	Het
Loxhd1	A	G	18: 77,456,833 (GRCm39)	I499V	probably benign	Het
Map3k4	G	T	17: 12,490,497 (GRCm39)	N311K	probably damaging	Het
Mical2	C	A	7: 111,934,620 (GRCm39)	H880N	probably benign	Het
Myo1d	A	T	11: 80,528,823 (GRCm39)	C666*	probably null	Het
Nlrx1	C	T	9: 44,175,302 (GRCm39)	R158H	probably benign	Het
Or10ag53	T	A	2: 87,082,295 (GRCm39)	Y5N	probably benign	Het
Or10q1	C	A	19: 13,726,994 (GRCm39)	H175N	possibly damaging	Het
Or13a17	A	G	7: 140,271,024 (GRCm39)	T69A	probably benign	Het
Or1e21	A	T	11: 73,344,106 (GRCm39)	L311I	probably benign	Het
Or4a78	T	C	2: 89,497,316 (GRCm39)	S305G	probably benign	Het
Pdgfrl	A	G	8: 41,430,094 (GRCm39)	R154G	probably benign	Het
Pitpnb	T	C	5: 111,478,699 (GRCm39)	F7S	possibly damaging	Het
Ppm1n	G	A	7: 19,013,097 (GRCm39)	R285C	probably damaging	Het
Prdm11	A	T	2: 92,805,957 (GRCm39)	I331N	possibly damaging	Het
Ptprb	C	T	10: 116,203,426 (GRCm39)	P2066L	probably damaging	Het
Ric8b	T	C	10: 84,828,135 (GRCm39)		probably benign	Het
Setx	A	G	2: 29,063,665 (GRCm39)	I2320M	probably damaging	Het
Skil	C	A	3: 31,165,787 (GRCm39)	S368*	probably null	Het
Trpm7	A	C	2: 126,661,811 (GRCm39)	V1079G	possibly damaging	Het
Tulp1	A	G	17: 28,577,633 (GRCm39)	F2L	probably damaging	Het
Ulbp3	A	T	10: 3,075,050 (GRCm39)		noncoding transcript	Het
Zbtb17	A	G	4: 141,189,224 (GRCm39)	Y48C	probably damaging	Het
Zfp605	T	A	5: 110,275,506 (GRCm39)	I208N	possibly damaging	Het

Other mutations in Slc1a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Slc1a5	APN	7	16,520,804 (GRCm39)	nonsense	probably null
IGL01295:Slc1a5	APN	7	16,529,787 (GRCm39)	missense	probably damaging	1.00
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

2015-04-16