Mutagenetix > Incidental Mutation

Incidental Mutation 'R4049:Slc7a7'

314061

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

041616-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4049 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54606899-54655237 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 54610548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000984] [ENSMUST00000000985] [ENSMUST00000195970] [ENSMUST00000197440] [ENSMUST00000226753]

AlphaFold

Q9Z1K8

Predicted Effect

probably null
Transcript: ENSMUST00000000984

SMART Domains

Protein: ENSMUSP00000000984
Gene: ENSMUSG00000000958

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

probably benign
Transcript: ENSMUST00000000985

SMART Domains

Protein: ENSMUSP00000000985
Gene: ENSMUSG00000000959

Domain	Start	End	E-Value	Type
low complexity region	9	20	N/A	INTRINSIC
low complexity region	29	41	N/A	INTRINSIC
Pfam:60KD_IMP	135	330	4.1e-28	PFAM
low complexity region	406	427	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000195970

SMART Domains

Protein: ENSMUSP00000143091
Gene: ENSMUSG00000000958

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

probably null
Transcript: ENSMUST00000197440

SMART Domains

Protein: ENSMUSP00000143743
Gene: ENSMUSG00000000958

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 null
Transcript: ENSMUST00000226753

Predicted Effect

probably benign
Transcript: ENSMUST00000228719

Meta Mutation Damage Score

0.9591

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,832,404 (GRCm39)	E1190V	probably damaging	Het
Arhgef10	A	G	8: 15,029,998 (GRCm39)	T928A	probably benign	Het
Arhgef10l	T	A	4: 140,242,762 (GRCm39)	I836F	probably benign	Het
Blm	T	A	7: 80,152,610 (GRCm39)	T446S	probably benign	Het
Ccdc63	T	A	5: 122,260,813 (GRCm39)	Q237L	probably damaging	Het
Ccn5	A	G	2: 163,670,904 (GRCm39)	D137G	probably damaging	Het
Cep57l1	G	T	10: 41,605,356 (GRCm39)	R130S	probably damaging	Het
Clstn2	T	G	9: 97,339,613 (GRCm39)	E786A	possibly damaging	Het
Col16a1	C	T	4: 129,962,545 (GRCm39)	P540L	probably damaging	Het
Csf2	A	G	11: 54,140,159 (GRCm39)	F61L	probably damaging	Het
Ctr9	C	T	7: 110,654,750 (GRCm39)	R1094C	unknown	Het
Cyp3a41a	A	G	5: 145,650,350 (GRCm39)	C98R	probably damaging	Het
Dthd1	T	A	5: 62,984,508 (GRCm39)	C404*	probably null	Het
Egfem1	A	C	3: 29,740,880 (GRCm39)	H518P	probably benign	Het
Elf3	T	C	1: 135,182,015 (GRCm39)	S369G	probably benign	Het
Eml6	C	T	11: 29,788,577 (GRCm39)	V503M	probably damaging	Het
Enthd1	T	C	15: 80,444,240 (GRCm39)	D105G	probably damaging	Het
Eral1	A	G	11: 77,966,428 (GRCm39)	L250P	probably damaging	Het
Gdf15	A	T	8: 71,082,605 (GRCm39)	M167K	probably benign	Het
Ggps1	T	C	13: 14,228,284 (GRCm39)	K300E	probably benign	Het
Gm8074	G	A	9: 78,229,618 (GRCm39)		noncoding transcript	Het
Herc3	A	G	6: 58,853,822 (GRCm39)	I623V	probably damaging	Het
Mad1l1	A	G	5: 140,118,571 (GRCm39)	S457P	probably damaging	Het
Map1lc3a	G	T	2: 155,119,462 (GRCm39)	V91F	possibly damaging	Het
Map4k3	A	G	17: 80,913,394 (GRCm39)	V617A	probably benign	Het
Mov10l1	T	A	15: 88,879,235 (GRCm39)		probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Ncor1	G	T	11: 62,220,494 (GRCm39)		probably null	Het
Nfe2	C	T	15: 103,159,364 (GRCm39)	E36K	possibly damaging	Het
Oprm1	G	A	10: 6,779,087 (GRCm39)	V95I	probably benign	Het
Or4a78	T	C	2: 89,498,006 (GRCm39)	I75V	probably benign	Het
Or4c107	A	G	2: 88,789,617 (GRCm39)	K269R	probably benign	Het
Or52d3	T	C	7: 104,229,575 (GRCm39)	F241L	probably benign	Het
Or5d46	T	C	2: 88,174,144 (GRCm39)		probably null	Het
Pcdha9	T	A	18: 37,130,995 (GRCm39)	H21Q	probably benign	Het
Pcolce2	A	T	9: 95,520,808 (GRCm39)	I62F	probably damaging	Het
Pfpl	T	A	19: 12,407,053 (GRCm39)	C435S	probably damaging	Het
Pkhd1l1	G	A	15: 44,361,953 (GRCm39)	C542Y	probably damaging	Het
Plekha5	T	C	6: 140,529,597 (GRCm39)	S75P	probably damaging	Het
Pphln1	C	A	15: 93,362,987 (GRCm39)	A202E	probably damaging	Het
Ppp1r1a	A	G	15: 103,440,881 (GRCm39)	L92P	probably damaging	Het
Prokr2	T	C	2: 132,223,414 (GRCm39)	T43A	probably benign	Het
Rai14	T	C	15: 10,592,298 (GRCm39)	N199S	probably benign	Het
Rasgrp2	T	C	19: 6,454,757 (GRCm39)	L199P	probably damaging	Het
Rnf213	A	C	11: 119,373,274 (GRCm39)	M4939L	possibly damaging	Het
Slc23a2	C	T	2: 131,902,603 (GRCm39)	R533Q	probably benign	Het
Snrpd2	T	A	7: 18,885,232 (GRCm39)	V31E	probably damaging	Het
Spire1	G	T	18: 67,662,101 (GRCm39)		probably null	Het
Srsf4	T	C	4: 131,627,854 (GRCm39)		probably benign	Het
Tcf20	A	G	15: 82,737,630 (GRCm39)	S1274P	probably damaging	Het
Tcof1	C	A	18: 60,965,975 (GRCm39)	A376S	possibly damaging	Het
Thsd1	T	A	8: 22,733,180 (GRCm39)	Y76N	possibly damaging	Het
Timm44	A	G	8: 4,310,561 (GRCm39)	V397A	probably benign	Het
Tmc6	G	A	11: 117,669,087 (GRCm39)	T89I	possibly damaging	Het
Trbv31	C	A	6: 41,534,639 (GRCm39)	C107F	probably damaging	Het
Trim37	T	A	11: 87,031,429 (GRCm39)		probably null	Het
Ttll5	T	C	12: 86,059,573 (GRCm39)	V1226A	probably benign	Het
Ube3b	T	C	5: 114,550,931 (GRCm39)	V865A	probably benign	Het
Vmn2r86	A	T	10: 130,282,966 (GRCm39)	M550K	probably damaging	Het
Vps54	C	A	11: 21,250,183 (GRCm39)	T373N	probably benign	Het
Wdr64	T	G	1: 175,633,422 (GRCm39)	I891S	probably benign	Het
Zfhx4	C	T	3: 5,463,919 (GRCm39)	S1384L	probably damaging	Het
Zfp703	A	G	8: 27,469,113 (GRCm39)	E259G	possibly damaging	Het
Zfp933	T	C	4: 147,910,969 (GRCm39)	H209R	probably damaging	Het
Zfp980	A	G	4: 145,429,170 (GRCm39)	H633R	probably 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
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
R5745:Slc7a7	UTSW	14	54,615,292 (GRCm39)	missense	possibly damaging	0.46
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'- TACTAAATGGCGCAAAGGTCAG -3'
(R):5'- CAAGGGCTTGAAGAATGCAC -3'

Sequencing Primer
(F):5'- CAGTAAGGGGGATGGATTACCTTG -3'
(R):5'- TGTAGATCAGGCTGGTCTCCAAC -3'

Posted On

2015-04-30