Mutagenetix > Incidental Mutation

Incidental Mutation 'R0608:Slc7a7'

54437

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

038797-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0608 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54606899-54655237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54615259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 246 (L246P)

Ref Sequence

ENSEMBL: ENSMUSP00000154533 (fasta)

Gene Model

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

AlphaFold

Q9Z1K8

Predicted Effect

probably damaging
Transcript: ENSMUST00000000984
AA Change: L246P

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

SMART Domains

Protein: ENSMUSP00000000984
Gene: ENSMUSG00000000958
AA Change: L246P

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 damaging
Transcript: ENSMUST00000195970
AA Change: L246P

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

SMART Domains

Protein: ENSMUSP00000143091
Gene: ENSMUSG00000000958
AA Change: L246P

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 damaging
Transcript: ENSMUST00000197440
AA Change: L246P

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

SMART Domains

Protein: ENSMUSP00000143743
Gene: ENSMUSG00000000958
AA Change: L246P

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 damaging
Transcript: ENSMUST00000226753
AA Change: L246P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000228488

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.7%
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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	G	14: 78,748,193 (GRCm39)	V1398A	probably benign	Het
Ampd3	C	A	7: 110,394,997 (GRCm39)	D315E	probably damaging	Het
Ampd3	T	A	7: 110,394,998 (GRCm39)	F316I	probably damaging	Het
Arhgef40	A	C	14: 52,234,431 (GRCm39)	E911D	probably damaging	Het
Atxn2l	A	G	7: 126,100,588 (GRCm39)		probably null	Het
Bckdhb	T	G	9: 83,835,789 (GRCm39)	F98V	probably damaging	Het
Calhm1	C	T	19: 47,132,280 (GRCm39)	V112I	probably benign	Het
Ccdc28a	G	A	10: 18,100,699 (GRCm39)	R90C	probably damaging	Het
Cdc40	A	T	10: 40,724,048 (GRCm39)	Y247N	probably benign	Het
Cds1	G	A	5: 101,962,299 (GRCm39)	V305M	probably damaging	Het
Cep128	T	G	12: 90,966,309 (GRCm39)		probably benign	Het
Cep72	A	T	13: 74,186,423 (GRCm39)	H249Q	probably damaging	Het
Cfap70	A	T	14: 20,498,631 (GRCm39)	Y19N	probably damaging	Het
Col11a1	T	C	3: 114,012,364 (GRCm39)		probably benign	Het
Cstdc6	T	C	16: 36,143,386 (GRCm39)		probably null	Het
Cysltr1	A	G	X: 105,622,261 (GRCm39)	V75A	possibly damaging	Het
Dnaaf11	T	A	15: 66,252,323 (GRCm39)	M448L	probably benign	Het
Dnah17	G	T	11: 117,981,575 (GRCm39)	Y1716*	probably null	Het
Dnm1	T	C	2: 32,225,836 (GRCm39)	E383G	possibly damaging	Het
Dst	C	A	1: 34,329,437 (GRCm39)		probably null	Het
Edil3	T	C	13: 89,332,968 (GRCm39)	S375P	probably damaging	Het
Eme1	A	G	11: 94,540,908 (GRCm39)	C277R	probably damaging	Het
Enam	T	C	5: 88,640,886 (GRCm39)	W183R	possibly damaging	Het
Fbxl6	C	T	15: 76,420,953 (GRCm39)	V341M	probably benign	Het
Fgf14	A	G	14: 124,914,015 (GRCm39)	S39P	probably damaging	Het
Fmo4	C	T	1: 162,631,220 (GRCm39)	R249H	possibly damaging	Het
Gle1	T	A	2: 29,830,240 (GRCm39)	D265E	probably benign	Het
Gml2	T	C	15: 74,693,235 (GRCm39)		probably null	Het
Golgb1	G	T	16: 36,736,692 (GRCm39)	E1980*	probably null	Het
Hap1	A	G	11: 100,240,131 (GRCm39)	L555P	probably damaging	Het
Heca	T	C	10: 17,791,039 (GRCm39)	D339G	possibly damaging	Het
Hepacam2	T	C	6: 3,483,479 (GRCm39)	T101A	possibly damaging	Het
Ift88	T	C	14: 57,733,678 (GRCm39)	V707A	probably benign	Het
Kdm3a	C	T	6: 71,597,030 (GRCm39)	G252D	probably benign	Het
Klhl11	A	G	11: 100,363,068 (GRCm39)	Y163H	probably damaging	Het
Kntc1	A	T	5: 123,924,137 (GRCm39)	N1008Y	probably damaging	Het
Lrp2	G	T	2: 69,316,587 (GRCm39)	N2131K	probably benign	Het
Magi3	C	G	3: 103,924,873 (GRCm39)	G1092A	probably damaging	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Minar2	A	G	18: 59,195,531 (GRCm39)		probably null	Het
Mrps26	G	T	2: 130,405,778 (GRCm39)	R27L	possibly damaging	Het
Myof	T	C	19: 37,904,952 (GRCm39)	D1624G	probably damaging	Het
Naif1	T	C	2: 32,344,908 (GRCm39)	M204T	probably benign	Het
Ndufb8	T	C	19: 44,538,784 (GRCm39)	E179G	possibly damaging	Het
Neb	A	T	2: 52,216,769 (GRCm39)	D135E	probably benign	Het
Nlrp6	C	T	7: 140,503,399 (GRCm39)	Q502*	probably null	Het
Nploc4	A	G	11: 120,304,507 (GRCm39)	L238P	probably damaging	Het
Obi1	T	C	14: 104,716,963 (GRCm39)	Y470C	probably damaging	Het
Or4d2	G	A	11: 87,784,022 (GRCm39)	H243Y	probably damaging	Het
Parp4	T	A	14: 56,839,861 (GRCm39)	V523E	probably damaging	Het
Pdgfra	T	C	5: 75,324,438 (GRCm39)	Y98H	probably damaging	Het
Plcz1	C	T	6: 139,936,459 (GRCm39)	R590H	probably damaging	Het
Pnliprp1	T	A	19: 58,726,628 (GRCm39)	Y328*	probably null	Het
Pnpla8	C	T	12: 44,330,246 (GRCm39)	P48L	probably benign	Het
Rab44	T	A	17: 29,366,317 (GRCm39)		probably null	Het
Ranbp2	T	C	10: 58,329,720 (GRCm39)	I3031T	probably damaging	Het
Sbno1	T	C	5: 124,522,604 (GRCm39)	D1072G	probably damaging	Het
Senp7	A	G	16: 55,944,236 (GRCm39)	T187A	possibly damaging	Het
Serpinh1	A	G	7: 98,998,601 (GRCm39)	C10R	unknown	Het
Sh2d4a	A	G	8: 68,799,346 (GRCm39)	Y405C	possibly damaging	Het
Slc26a7	T	C	4: 14,621,317 (GRCm39)	D23G	probably benign	Het
Spire1	T	C	18: 67,661,945 (GRCm39)	R163G	probably damaging	Het
Stxbp2	T	A	8: 3,682,559 (GRCm39)	D49E	probably damaging	Het
Susd2	C	T	10: 75,474,069 (GRCm39)	A509T	probably benign	Het
Sycp2	A	G	2: 178,024,197 (GRCm39)	F396L	probably damaging	Het
Syne2	T	C	12: 76,010,587 (GRCm39)	L2499P	probably damaging	Het
Syt10	C	A	15: 89,711,144 (GRCm39)	A130S	probably benign	Het
Sytl4	A	T	X: 132,862,936 (GRCm39)	D16E	probably benign	Het
Tab2	C	T	10: 7,795,883 (GRCm39)	V126I	probably damaging	Het
Tecpr1	T	C	5: 144,148,317 (GRCm39)	T363A	probably damaging	Het
Terb2	A	G	2: 122,016,816 (GRCm39)	D16G	probably benign	Het
Tm2d2	A	G	8: 25,510,552 (GRCm39)	E137G	probably benign	Het
Trim30d	T	A	7: 104,121,692 (GRCm39)	H201L	probably damaging	Het
Tspan3	A	G	9: 56,054,669 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,617,667 (GRCm39)	L16268Q	probably damaging	Het
Ttn	A	T	2: 76,626,529 (GRCm39)		probably null	Het
Ubap2	T	A	4: 41,218,319 (GRCm39)	T263S	probably benign	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Zeb2	A	T	2: 44,886,138 (GRCm39)	M973K	possibly damaging	Het
Zfp229	A	G	17: 21,965,615 (GRCm39)	E615G	probably damaging	Het
Zfp655	T	A	5: 145,180,867 (GRCm39)	S242T	possibly damaging	Het
Zfp788	T	A	7: 41,297,705 (GRCm39)	F62I	possibly damaging	Het
Zmynd8	A	G	2: 165,629,078 (GRCm39)		probably null	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
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'- ATGCAAGAAAGCGCACATCTGC -3'
(R):5'- GAAGAACACCACCTGTTTCTAGCCC -3'

Sequencing Primer
(F):5'- TCTGCACACAGTCACTACATACAG -3'
(R):5'- CAGGAGCCACAGCTAACTTT -3'

Posted On

2013-07-11