Mutagenetix > Incidental Mutation

Incidental Mutation 'R5745:Slc7a7'

445764

Institutional Source

Beutler Lab

Gene Symbol

Slc7a7

Ensembl Gene

ENSMUSG00000000958

Gene Name

solute carrier family 7 (cationic amino acid transporter, y+ system), member 7

Synonyms

my+lat1

MMRRC Submission

043198-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5745 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54606899-54655237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 54615292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 235 (S235L)

Ref Sequence

ENSEMBL: ENSMUSP00000154533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000984] [ENSMUST00000195970] [ENSMUST00000197440] [ENSMUST00000200545] [ENSMUST00000226753] [ENSMUST00000228488]

AlphaFold

Q9Z1K8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000984
AA Change: S235L

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000000984
Gene: ENSMUSG00000000958
AA Change: S235L

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	38	463	2e-64	PFAM
Pfam:AA_permease	43	463	6.3e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195970
AA Change: S235L

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143091
Gene: ENSMUSG00000000958
AA Change: S235L

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	38	462	6.4e-66	PFAM
Pfam:AA_permease	43	467	5.3e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196966

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197440
AA Change: S235L

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143743
Gene: ENSMUSG00000000958
AA Change: S235L

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	38	463	2e-64	PFAM
Pfam:AA_permease	43	463	6.3e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197667

Predicted Effect

probably benign
Transcript: ENSMUST00000200545

SMART Domains

Protein: ENSMUSP00000142587
Gene: ENSMUSG00000000958

Domain	Start	End	E-Value	Type
Pfam:Trp_Tyr_perm	36	183	7.5e-5	PFAM
Pfam:AA_permease_2	38	186	4.3e-19	PFAM
Pfam:AA_permease	43	185	2.4e-6	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226753
AA Change: S235L

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000228488

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]
PHENOTYPE: Homozygous null mice exhibit fetal growth retardation and often die neonatally. After heavy protein ingestion, surviving adults show a metabolic derangement akin to lysinuric protein intolerance and including a lasting postnatal growth retardation, splenomegaly, hyperammonemia, and aminoaciduria. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	G	A	5: 139,349,828 (GRCm39)	R74W	probably damaging	Het
4933407L21Rik	T	G	1: 85,858,995 (GRCm39)		probably null	Het
Adcy8	A	T	15: 64,792,320 (GRCm39)	I212N	possibly damaging	Het
Cobll1	T	C	2: 64,928,801 (GRCm39)	T879A	probably damaging	Het
Copb2	T	C	9: 98,456,164 (GRCm39)	S233P	probably damaging	Het
Cpa5	T	A	6: 30,630,436 (GRCm39)	M330K	probably damaging	Het
Dgcr8	A	T	16: 18,098,307 (GRCm39)	N361K	probably benign	Het
Dmxl1	A	G	18: 49,979,653 (GRCm39)	E96G	probably benign	Het
Dock8	T	A	19: 25,107,761 (GRCm39)	N830K	probably benign	Het
Ephb1	C	T	9: 102,072,633 (GRCm39)	D49N	probably benign	Het
Fer1l6	A	G	15: 58,443,238 (GRCm39)	I514V	probably benign	Het
Fpr1	A	G	17: 18,097,344 (GRCm39)	I215T	probably benign	Het
Hectd4	G	A	5: 121,491,565 (GRCm39)	V3668M	possibly damaging	Het
Ighv3-4	T	A	12: 114,217,388 (GRCm39)	I68L	probably benign	Het
Intu	A	G	3: 40,647,402 (GRCm39)		probably null	Het
Kel	C	T	6: 41,675,961 (GRCm39)	G243E	probably damaging	Het
Mycbp2	A	C	14: 103,393,889 (GRCm39)	S2781A	possibly damaging	Het
Myom2	T	A	8: 15,172,705 (GRCm39)	S1211T	probably benign	Het
Nrp1	A	T	8: 129,194,929 (GRCm39)	I462F	probably benign	Het
Or10d3	T	C	9: 39,461,987 (GRCm39)	Y60C	probably damaging	Het
Or6c5c	T	A	10: 129,299,307 (GRCm39)	I254N	probably damaging	Het
Pcsk1	A	C	13: 75,280,079 (GRCm39)	S635R	probably benign	Het
Pms1	A	T	1: 53,246,861 (GRCm39)	Y280*	probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Sema3b	C	A	9: 107,478,628 (GRCm39)	A356S	probably damaging	Het
Shoc2	C	A	19: 54,018,323 (GRCm39)	T485K	probably benign	Het
Smcr8	A	T	11: 60,674,977 (GRCm39)	T918S	probably benign	Het
Tafa1	G	A	6: 96,626,146 (GRCm39)	R128Q	probably damaging	Het
Tle3	C	A	9: 61,322,133 (GRCm39)	F719L	probably damaging	Het
Vmn2r45	T	A	7: 8,486,074 (GRCm39)	I405L	probably benign	Het
Vmn2r57	A	T	7: 41,097,895 (GRCm39)	H57Q	possibly damaging	Het

Other mutations in Slc7a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0200:Slc7a7	UTSW	14	54,615,259 (GRCm39)	missense	probably damaging	1.00
R0331:Slc7a7	UTSW	14	54,615,381 (GRCm39)	unclassified	probably benign
R0608:Slc7a7	UTSW	14	54,615,259 (GRCm39)	missense	probably damaging	1.00
R1311:Slc7a7	UTSW	14	54,610,487 (GRCm39)	nonsense	probably null
R1489:Slc7a7	UTSW	14	54,646,103 (GRCm39)	missense	probably damaging	1.00
R1490:Slc7a7	UTSW	14	54,646,103 (GRCm39)	missense	probably damaging	1.00
R4049:Slc7a7	UTSW	14	54,610,548 (GRCm39)	critical splice acceptor site	probably null
R4731:Slc7a7	UTSW	14	54,646,190 (GRCm39)	missense	probably damaging	1.00
R4732:Slc7a7	UTSW	14	54,646,190 (GRCm39)	missense	probably damaging	1.00
R4733:Slc7a7	UTSW	14	54,646,190 (GRCm39)	missense	probably damaging	1.00
R5562:Slc7a7	UTSW	14	54,646,269 (GRCm39)	missense	probably benign
R5907:Slc7a7	UTSW	14	54,616,560 (GRCm39)	missense	probably damaging	1.00
R6140:Slc7a7	UTSW	14	54,616,515 (GRCm39)	missense	probably damaging	1.00
R6366:Slc7a7	UTSW	14	54,612,057 (GRCm39)	missense	probably damaging	1.00
R6696:Slc7a7	UTSW	14	54,615,218 (GRCm39)	splice site	probably null
R6776:Slc7a7	UTSW	14	54,612,108 (GRCm39)	missense	possibly damaging	0.95
R7310:Slc7a7	UTSW	14	54,616,482 (GRCm39)	missense	probably damaging	0.99
R7399:Slc7a7	UTSW	14	54,611,725 (GRCm39)	missense	possibly damaging	0.87
R7903:Slc7a7	UTSW	14	54,611,366 (GRCm39)	missense	probably damaging	1.00
R8679:Slc7a7	UTSW	14	54,610,449 (GRCm39)	missense	probably benign	0.31
R8888:Slc7a7	UTSW	14	54,607,293 (GRCm39)	missense	probably benign
R8895:Slc7a7	UTSW	14	54,607,293 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTCACTACATACAGCCATGG -3'
(R):5'- GAACACCACCTGTTTCTAGCC -3'

Sequencing Primer
(F):5'- GCCATGGACAAGTTATATCTCTAGG -3'
(R):5'- ACCTGTTTCTAGCCCTGCTGG -3'

Posted On

2016-11-21