Mutagenetix > Incidental Mutation

Incidental Mutation 'R0331:Slc7a7'

26090

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

038540-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0331 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54606899-54655237 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 54615381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154352 (fasta)

Gene Model

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

AlphaFold

Q9Z1K8

Predicted Effect

probably benign
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: 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 benign
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 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

probably benign
Transcript: ENSMUST00000226753

Predicted Effect

probably benign
Transcript: ENSMUST00000228488

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.8%
20x: 91.7%

Validation Efficiency

100% (81/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	A	8: 79,956,021 (GRCm39)	T79S	probably benign	Het
Abtb1	T	C	6: 88,817,684 (GRCm39)		probably benign	Het
Acot12	G	A	13: 91,908,183 (GRCm39)		probably null	Het
Adamts4	T	A	1: 171,078,541 (GRCm39)	S54T	probably benign	Het
Adgrl4	T	C	3: 151,203,577 (GRCm39)	S96P	probably benign	Het
Aip	G	T	19: 4,168,247 (GRCm39)	T40K	probably damaging	Het
Anapc4	A	G	5: 53,012,984 (GRCm39)		probably benign	Het
Asz1	A	G	6: 18,103,618 (GRCm39)		probably benign	Het
Atf7ip	A	G	6: 136,538,161 (GRCm39)	T465A	possibly damaging	Het
Atp11a	C	T	8: 12,866,953 (GRCm39)	Q127*	probably null	Het
Axin1	A	G	17: 26,362,081 (GRCm39)	R142G	probably damaging	Het
Bcat1	T	A	6: 144,993,040 (GRCm39)	E86V	probably benign	Het
Brd4	G	A	17: 32,421,489 (GRCm39)	P749L	probably benign	Het
C1ra	G	A	6: 124,496,394 (GRCm39)		probably null	Het
Capza2	A	T	6: 17,665,102 (GRCm39)	N237I	probably benign	Het
Cd2ap	A	T	17: 43,116,192 (GRCm39)	V556E	probably benign	Het
Cfap65	G	A	1: 74,968,460 (GRCm39)	P124L	probably damaging	Het
Cfap65	G	T	1: 74,968,461 (GRCm39)	P124T	probably damaging	Het
Cftr	T	C	6: 18,235,225 (GRCm39)	V488A	possibly damaging	Het
Ckmt1	A	T	2: 121,193,337 (GRCm39)		probably null	Het
Cmya5	T	G	13: 93,280,911 (GRCm39)	E35A	possibly damaging	Het
Col7a1	A	G	9: 108,796,570 (GRCm39)		probably benign	Het
Crmp1	C	T	5: 37,422,657 (GRCm39)	L155F	possibly damaging	Het
Cyp2d10	T	A	15: 82,291,227 (GRCm39)	T33S	probably benign	Het
Dhdh	T	C	7: 45,137,544 (GRCm39)	K48E	probably benign	Het
Dlst	T	C	12: 85,165,586 (GRCm39)	V103A	probably damaging	Het
Dohh	C	T	10: 81,223,646 (GRCm39)	T233I	probably benign	Het
Dvl2	C	A	11: 69,897,043 (GRCm39)		probably benign	Het
Eipr1	C	T	12: 28,914,703 (GRCm39)	Q286*	probably null	Het
Enpp6	C	A	8: 47,535,484 (GRCm39)	T343K	probably damaging	Het
Fbxw11	T	A	11: 32,661,895 (GRCm39)	F112I	probably damaging	Het
Gdpd4	T	A	7: 97,622,215 (GRCm39)	N231K	probably benign	Het
Gm6370	A	T	5: 146,430,576 (GRCm39)	T254S	probably benign	Het
Hapln4	G	T	8: 70,537,159 (GRCm39)	Q31H	probably damaging	Het
Hic1	T	A	11: 75,056,316 (GRCm39)	T858S	possibly damaging	Het
Isg20l2	T	C	3: 87,839,092 (GRCm39)	L101P	probably damaging	Het
Itga10	T	C	3: 96,559,799 (GRCm39)	Y485H	probably damaging	Het
Itgal	T	A	7: 126,905,853 (GRCm39)		probably null	Het
Itln1	T	C	1: 171,359,117 (GRCm39)	N62S	probably damaging	Het
Kdm4b	T	C	17: 56,693,289 (GRCm39)		probably benign	Het
Lct	T	C	1: 128,226,479 (GRCm39)		probably benign	Het
Lman2	A	T	13: 55,500,829 (GRCm39)	H123Q	probably damaging	Het
Lztr1	T	A	16: 17,342,101 (GRCm39)		probably benign	Het
Myo3b	G	T	2: 69,925,605 (GRCm39)	G24V	probably damaging	Het
Nacad	T	A	11: 6,549,441 (GRCm39)	Q1250L	possibly damaging	Het
Ncor2	A	T	5: 125,161,981 (GRCm39)	M431K	unknown	Het
Nek9	T	A	12: 85,374,149 (GRCm39)		probably benign	Het
Neu1	C	A	17: 35,153,146 (GRCm39)	N255K	possibly damaging	Het
Nf2	T	A	11: 4,744,914 (GRCm39)	T75S	probably benign	Het
Nipal4	T	A	11: 46,041,040 (GRCm39)	D385V	probably damaging	Het
Olah	T	A	2: 3,343,511 (GRCm39)	N245I	probably damaging	Het
Or5p54	G	T	7: 107,554,077 (GRCm39)	L76F	probably benign	Het
Pag1	T	A	3: 9,767,030 (GRCm39)	T90S	probably benign	Het
Pald1	A	G	10: 61,176,708 (GRCm39)		probably null	Het
Parva	A	G	7: 112,144,005 (GRCm39)	M98V	probably benign	Het
Paxbp1	T	A	16: 90,834,255 (GRCm39)	D177V	possibly damaging	Het
Paxip1	A	G	5: 27,970,230 (GRCm39)	I587T	probably damaging	Het
Pclo	T	C	5: 14,730,390 (GRCm39)		probably benign	Het
Pdgfra	T	A	5: 75,355,713 (GRCm39)	D1074E	probably damaging	Het
Pef1	A	T	4: 130,021,241 (GRCm39)	D265V	probably damaging	Het
Plekhh2	G	A	17: 84,893,794 (GRCm39)	E870K	possibly damaging	Het
Plscr4	G	A	9: 92,364,695 (GRCm39)	G40D	probably damaging	Het
Psg18	A	G	7: 18,087,233 (GRCm39)	Y142H	probably benign	Het
Ptchd3	A	T	11: 121,733,017 (GRCm39)	M636L	probably benign	Het
Rab2a	A	G	4: 8,572,559 (GRCm39)	D51G	probably benign	Het
Rnf139	T	A	15: 58,771,755 (GRCm39)	D593E	probably benign	Het
Septin7	A	G	9: 25,217,552 (GRCm39)	N422S	probably benign	Het
Shprh	T	C	10: 11,069,914 (GRCm39)		probably benign	Het
Slc7a6os	A	G	8: 106,937,199 (GRCm39)	I87T	probably damaging	Het
Spc24	G	T	9: 21,668,609 (GRCm39)	N129K	possibly damaging	Het
Strip2	C	T	6: 29,926,559 (GRCm39)	T148I	probably benign	Het
Tmem150c	A	C	5: 100,234,132 (GRCm39)		probably null	Het
Trav13-5	A	G	14: 54,033,205 (GRCm39)	N38S	probably benign	Het
Ttn	G	T	2: 76,641,364 (GRCm39)	Y11801*	probably null	Het
Usp37	A	T	1: 74,493,223 (GRCm39)	L688*	probably null	Het
Usp38	T	C	8: 81,722,469 (GRCm39)	I351V	probably benign	Het
Vav2	T	A	2: 27,186,187 (GRCm39)	M223L	probably benign	Het
Wdr36	A	G	18: 32,985,968 (GRCm39)	I557M	possibly damaging	Het
Wwc2	A	T	8: 48,333,239 (GRCm39)	M259K	probably benign	Het
Znfx1	G	A	2: 166,888,898 (GRCm39)	S770L	probably benign	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
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
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'- AGCCAGGCATGGAAACAATGCTAC -3'
(R):5'- TTCCAGGGCTAAAGCCTTCCCAAC -3'

Sequencing Primer
(F):5'- ACAATGCTACCCCCTAGTGTG -3'
(R):5'- TGACCTGGGCATACTGAATC -3'

Posted On

2013-04-16