Mutagenetix > Incidental Mutation

Incidental Mutation 'R4731:Slc7a7'

358881

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

042021-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4731 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54606899-54655237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54646190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 91 (Y91C)

Ref Sequence

ENSEMBL: ENSMUSP00000154352 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000984] [ENSMUST00000195970] [ENSMUST00000195999] [ENSMUST00000196215] [ENSMUST00000197440] [ENSMUST00000200545] [ENSMUST00000226753] [ENSMUST00000227967] [ENSMUST00000228488] [ENSMUST00000227334]

AlphaFold

Q9Z1K8

Predicted Effect

probably damaging
Transcript: ENSMUST00000000984
AA Change: Y91C

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

SMART Domains

Protein: ENSMUSP00000000984
Gene: ENSMUSG00000000958
AA Change: Y91C

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: Y91C

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

SMART Domains

Protein: ENSMUSP00000143091
Gene: ENSMUSG00000000958
AA Change: Y91C

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

probably benign
Transcript: ENSMUST00000195999

Predicted Effect

probably benign
Transcript: ENSMUST00000196215

SMART Domains

Protein: ENSMUSP00000142710
Gene: ENSMUSG00000000958

Domain	Start	End	E-Value	Type
transmembrane domain	38	57	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000197440
AA Change: Y91C

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

SMART Domains

Protein: ENSMUSP00000143743
Gene: ENSMUSG00000000958
AA Change: Y91C

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: ENSMUST00000200545
AA Change: Y91C

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

SMART Domains

Protein: ENSMUSP00000142587
Gene: ENSMUSG00000000958
AA Change: Y91C

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: Y91C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000227967
AA Change: Y91C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000228488
AA Change: Y91C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000227334
AA Change: Y91C

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

Meta Mutation Damage Score

0.6635

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

99% (117/118)

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actmap	T	A	7: 26,900,468 (GRCm39)	M149K	probably damaging	Het
Adamts12	A	T	15: 11,270,748 (GRCm39)	S668C	probably damaging	Het
Adcy8	A	G	15: 64,626,711 (GRCm39)	V709A	possibly damaging	Het
Aim2	T	A	1: 173,291,442 (GRCm39)	D282E	possibly damaging	Het
Akap9	T	A	5: 4,012,266 (GRCm39)	S990T	possibly damaging	Het
Aloxe3	A	T	11: 69,019,480 (GRCm39)	D131V	probably null	Het
Ankrd28	A	C	14: 31,477,698 (GRCm39)	C115G	probably benign	Het
Anxa2	A	T	9: 69,393,812 (GRCm39)	M217L	probably benign	Het
Asah2	T	C	19: 31,972,758 (GRCm39)	N659S	probably benign	Het
Btaf1	A	G	19: 36,958,478 (GRCm39)	D665G	probably benign	Het
Cdc42bpg	T	A	19: 6,361,221 (GRCm39)	V282E	probably damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cdipt	T	A	7: 126,577,530 (GRCm39)	L92H	probably damaging	Het
Cep104	T	A	4: 154,072,883 (GRCm39)	D380E	probably damaging	Het
Cfap74	T	A	4: 155,548,059 (GRCm39)		probably benign	Het
Chd1	A	T	17: 17,598,079 (GRCm39)	E55D	probably benign	Het
Cldnd2	T	A	7: 43,091,613 (GRCm39)	C65S	possibly damaging	Het
Clec9a	G	T	6: 129,393,299 (GRCm39)	A108S	probably benign	Het
Cog7	T	C	7: 121,563,467 (GRCm39)	D215G	probably benign	Het
Col9a3	G	A	2: 180,252,474 (GRCm39)	E373K	probably damaging	Het
Deptor	C	A	15: 55,044,406 (GRCm39)	H191N	probably benign	Het
Dgkz	A	T	2: 91,768,684 (GRCm39)	I699N	probably damaging	Het
Dnah7c	T	A	1: 46,809,333 (GRCm39)	N3550K	probably damaging	Het
Dnah8	A	G	17: 30,994,035 (GRCm39)	K3384R	probably null	Het
Dnajc13	CT	C	9: 104,064,004 (GRCm39)		probably benign	Het
Dnhd1	C	A	7: 105,323,056 (GRCm39)	N521K	probably benign	Het
Efhb	G	A	17: 53,733,272 (GRCm39)	T533I	probably damaging	Het
Ercc4	A	T	16: 12,965,471 (GRCm39)	H701L	probably damaging	Het
Ern1	A	T	11: 106,325,676 (GRCm39)		probably benign	Het
Etfb	T	C	7: 43,093,624 (GRCm39)	V17A	probably damaging	Het
Evc	T	A	5: 37,481,141 (GRCm39)	M235L	probably benign	Het
Fbxw22	T	C	9: 109,207,937 (GRCm39)	I445V	probably benign	Het
Fmnl2	A	G	2: 53,007,081 (GRCm39)	T764A	possibly damaging	Het
Fto	T	A	8: 92,136,342 (GRCm39)	D205E	probably damaging	Het
Galntl6	G	A	8: 58,880,847 (GRCm39)	P147L	probably damaging	Het
Gm6871	T	C	7: 41,196,173 (GRCm39)	I39V	probably benign	Het
Gpr83	A	G	9: 14,777,470 (GRCm39)		probably benign	Het
Gucy1a2	A	T	9: 3,759,424 (GRCm39)	H410L	probably benign	Het
Helb	T	C	10: 119,930,193 (GRCm39)		probably null	Het
Ifi214	T	C	1: 173,354,157 (GRCm39)	Q171R	probably benign	Het
Ifit1bl1	T	C	19: 34,571,721 (GRCm39)	I245M	probably benign	Het
Igdcc3	A	G	9: 65,089,279 (GRCm39)	T492A	probably damaging	Het
Ighv13-1	T	C	12: 114,231,252 (GRCm39)		probably benign	Het
Igkv4-50	T	C	6: 69,677,984 (GRCm39)	K40R	probably benign	Het
Igkv8-18	T	A	6: 70,333,280 (GRCm39)	I74N	probably damaging	Het
Iho1	A	G	9: 108,282,584 (GRCm39)	V368A	probably benign	Het
Kbtbd7	T	C	14: 79,666,240 (GRCm39)	*691Q	probably null	Het
Khnyn	T	A	14: 56,123,946 (GRCm39)		probably null	Het
Kif26a	G	A	12: 112,142,007 (GRCm39)	A754T	probably benign	Het
Llgl1	T	A	11: 60,597,051 (GRCm39)	L194*	probably null	Het
Map3k12	G	T	15: 102,409,717 (GRCm39)	T686N	probably benign	Het
Myo18a	C	A	11: 77,720,585 (GRCm39)	P741Q	probably benign	Het
Ncaph2	G	A	15: 89,240,030 (GRCm39)		probably benign	Het
Nfkb2	A	G	19: 46,297,403 (GRCm39)	Q406R	possibly damaging	Het
Or10g9b	A	T	9: 39,917,564 (GRCm39)	I227N	probably damaging	Het
Or11g2	T	A	14: 50,856,026 (GRCm39)	C116S	probably benign	Het
Or1ad6	G	A	11: 50,860,093 (GRCm39)	V83M	possibly damaging	Het
Or2i1	T	C	17: 37,507,915 (GRCm39)	T315A	probably damaging	Het
Or2n1e	T	A	17: 38,586,438 (GRCm39)	Y259N	probably damaging	Het
Or8b12	A	T	9: 37,657,831 (GRCm39)	T134S	probably benign	Het
Ostm1	C	T	10: 42,554,975 (GRCm39)		probably benign	Het
Pabpc1	A	T	15: 36,599,528 (GRCm39)	V389E	probably benign	Het
Pank4	A	T	4: 155,055,847 (GRCm39)	M291L	probably benign	Het
Pex6	A	G	17: 47,033,214 (GRCm39)	D579G	probably benign	Het
Pex6	A	G	17: 47,035,633 (GRCm39)		probably null	Het
Phc2	C	T	4: 128,601,764 (GRCm39)	T73M	probably damaging	Het
Pkp4	G	A	2: 59,165,276 (GRCm39)		probably null	Het
Plekhg1	T	A	10: 3,907,506 (GRCm39)	S808T	probably benign	Het
Plk5	A	T	10: 80,194,631 (GRCm39)	H118L	probably damaging	Het
Pnlip	T	C	19: 58,664,919 (GRCm39)	I249T	probably benign	Het
Ptov1	T	C	7: 44,516,533 (GRCm39)	D134G	probably benign	Het
Ptprb	T	C	10: 116,155,238 (GRCm39)	V664A	probably benign	Het
Ptprz1	T	A	6: 23,002,609 (GRCm39)	S1566R	probably benign	Het
Pum1	T	C	4: 130,445,504 (GRCm39)	S158P	probably benign	Het
Rae1	G	T	2: 172,857,185 (GRCm39)		probably benign	Het
Ros1	A	C	10: 52,018,325 (GRCm39)	W778G	probably damaging	Het
Ryr2	A	T	13: 11,592,795 (GRCm39)	M4653K	possibly damaging	Het
Sacm1l	G	A	9: 123,419,895 (GRCm39)	V553I	probably benign	Het
Samd4b	G	A	7: 28,106,088 (GRCm39)	R377W	probably benign	Het
Selenoo	A	G	15: 88,983,531 (GRCm39)	Q524R	probably benign	Het
Slc30a3	T	C	5: 31,250,638 (GRCm39)	S22G	probably benign	Het
Slc35g2	A	C	9: 100,434,555 (GRCm39)	V372G	probably benign	Het
Slc5a8	T	C	10: 88,761,649 (GRCm39)		probably null	Het
Slc7a9	T	A	7: 35,152,988 (GRCm39)	Y135*	probably null	Het
Slfn1	A	T	11: 83,012,661 (GRCm39)	E259V	probably damaging	Het
Slmap	T	C	14: 26,189,690 (GRCm39)	N156S	probably damaging	Het
Smim29	A	G	17: 27,784,244 (GRCm39)		probably benign	Het
Sorbs1	T	A	19: 40,303,133 (GRCm39)	R485S	probably benign	Het
Sptbn2	T	A	19: 4,792,508 (GRCm39)	F1388I	probably damaging	Het
Stac2	C	T	11: 97,930,521 (GRCm39)	G349E	probably damaging	Het
Tigd2	T	A	6: 59,188,400 (GRCm39)	H422Q	probably benign	Het
Tle1	T	C	4: 72,043,256 (GRCm39)	N538D	possibly damaging	Het
Tmtc1	A	C	6: 148,186,478 (GRCm39)		probably null	Het
Tns3	C	T	11: 8,400,986 (GRCm39)	R1104H	probably benign	Het
Tom1l2	C	G	11: 60,161,259 (GRCm39)	R84P	probably damaging	Het
Trank1	T	C	9: 111,219,478 (GRCm39)	F2072L	probably damaging	Het
Trim6	T	C	7: 103,881,855 (GRCm39)	Y369H	probably damaging	Het
Trpc7	A	G	13: 56,952,366 (GRCm39)	S541P	probably damaging	Het
Trpv4	T	C	5: 114,760,814 (GRCm39)	D732G	possibly damaging	Het
Tsc2	C	A	17: 24,822,249 (GRCm39)	V1141F	possibly damaging	Het
Tspoap1	T	A	11: 87,656,473 (GRCm39)	V257E	probably benign	Het
Ttn	A	T	2: 76,773,355 (GRCm39)	M2395K	unknown	Het
Ubd	A	C	17: 37,506,593 (GRCm39)	T160P	probably benign	Het
Ubr7	A	G	12: 102,735,485 (GRCm39)	T315A	probably benign	Het
Ugt2b36	G	T	5: 87,229,397 (GRCm39)	Y156*	probably null	Het
Ulk4	G	A	9: 121,092,704 (GRCm39)	R178*	probably null	Het
Urod	G	A	4: 116,848,870 (GRCm39)	A92V	possibly damaging	Het
Utp20	T	C	10: 88,590,382 (GRCm39)	D2364G	possibly damaging	Het
Vmn1r87	A	T	7: 12,866,254 (GRCm39)	M11K	possibly damaging	Het
Vstm4	A	G	14: 32,639,859 (GRCm39)	K96E	possibly damaging	Het
Wwp1	T	C	4: 19,661,990 (GRCm39)	D172G	probably benign	Het
Zfhx3	A	G	8: 109,682,716 (GRCm39)	Q3385R	unknown	Het
Zfp229	C	T	17: 21,964,267 (GRCm39)	H166Y	possibly damaging	Het
Zfp738	A	T	13: 67,818,033 (GRCm39)	C653S	probably damaging	Het
Zp2	C	A	7: 119,737,343 (GRCm39)	V282L	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
R4049:Slc7a7	UTSW	14	54,610,548 (GRCm39)	critical splice acceptor site	probably null
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'- TACTTACAGATGCAGGCAGC -3'
(R):5'- CCAAGTATGAAGTGGCTGCTC -3'

Sequencing Primer
(F):5'- ATAGGGAGCGCCACAGC -3'
(R):5'- ACGATGGCTCTGCTCTCG -3'

Posted On

2015-11-11