Mutagenetix > Incidental Mutation

Incidental Mutation 'R7399:Slc7a7'

574058

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

045481-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7399 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54606899-54655237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 54611725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 316 (A316E)

Ref Sequence

ENSEMBL: ENSMUSP00000000984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000984] [ENSMUST00000000985] [ENSMUST00000195970] [ENSMUST00000197440] [ENSMUST00000200545] [ENSMUST00000226753] [ENSMUST00000228488]

AlphaFold

Q9Z1K8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000984
AA Change: A316E

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000000984
Gene: ENSMUSG00000000958
AA Change: A316E

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

possibly damaging
Transcript: ENSMUST00000195970
AA Change: A316E

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143091
Gene: ENSMUSG00000000958
AA Change: A316E

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

possibly damaging
Transcript: ENSMUST00000197440
AA Change: A316E

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143743
Gene: ENSMUSG00000000958
AA Change: A316E

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: 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: A316E

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000228488

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (74/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,151,505 (GRCm39)	V801G	possibly damaging	Het
Actbl2	T	A	13: 111,392,127 (GRCm39)	M154K	probably benign	Het
Adam7	A	T	14: 68,741,915 (GRCm39)		probably null	Het
Arfgef1	T	A	1: 10,251,122 (GRCm39)	T888S	probably benign	Het
AW554918	C	T	18: 25,302,117 (GRCm39)	P10L	possibly damaging	Het
Bcap29	A	G	12: 31,680,881 (GRCm39)	I35T	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Cby2	A	G	14: 75,830,077 (GRCm39)	S39P	probably benign	Het
Cdc25b	A	G	2: 131,036,574 (GRCm39)	D458G	probably damaging	Het
Cdc42bpb	T	C	12: 111,272,101 (GRCm39)	K1104R	probably benign	Het
Cep89	A	G	7: 35,137,803 (GRCm39)	N729S	probably damaging	Het
Clec4a4	T	A	6: 122,968,788 (GRCm39)	M51K	possibly damaging	Het
Dcdc2b	A	G	4: 129,503,422 (GRCm39)	L270P	probably damaging	Het
Dennd5b	G	T	6: 148,937,981 (GRCm39)	H639N	probably damaging	Het
Dnah11	T	G	12: 117,991,212 (GRCm39)	T2385P	probably benign	Het
Dnah11	T	C	12: 118,089,520 (GRCm39)	E1182G	probably damaging	Het
Dok7	T	C	5: 35,223,815 (GRCm39)	V81A	probably damaging	Het
Dtx1	T	A	5: 120,820,458 (GRCm39)	M494L	possibly damaging	Het
Foxj1	A	T	11: 116,223,080 (GRCm39)	L241Q	possibly damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Hnmt	T	A	2: 23,893,892 (GRCm39)	T201S	probably benign	Het
Jup	G	T	11: 100,269,177 (GRCm39)	T412K	possibly damaging	Het
Kcnh2	G	A	5: 24,527,057 (GRCm39)	S954F	probably damaging	Het
Klhdc7b	A	C	15: 89,272,847 (GRCm39)	K585T	possibly damaging	Het
Klk7	T	A	7: 43,461,424 (GRCm39)	S14T	probably benign	Het
Lama4	G	A	10: 38,923,944 (GRCm39)	E451K	probably damaging	Het
Ldhb	A	G	6: 142,441,399 (GRCm39)	C164R	probably damaging	Het
Malrd1	G	A	2: 15,614,901 (GRCm39)	D239N		Het
Mgam	T	A	6: 40,643,788 (GRCm39)	V572E	probably damaging	Het
Mrgprb2	G	T	7: 48,201,890 (GRCm39)	N278K	probably damaging	Het
Msto1	A	G	3: 88,819,130 (GRCm39)	Y206H	probably damaging	Het
Myo6	A	G	9: 80,169,573 (GRCm39)	S467G	unknown	Het
Mysm1	T	A	4: 94,849,964 (GRCm39)	I447L	probably benign	Het
Nav3	T	C	10: 109,688,795 (GRCm39)	E494G	possibly damaging	Het
Nol10	T	G	12: 17,452,174 (GRCm39)	V376G	probably damaging	Het
Nup205	T	A	6: 35,191,611 (GRCm39)	I1032N	probably damaging	Het
Oog2	A	G	4: 143,921,851 (GRCm39)	K254E	probably benign	Het
Or10ac1	A	G	6: 42,515,662 (GRCm39)	F98S	possibly damaging	Het
Or52z12	A	T	7: 103,233,588 (GRCm39)	I120L	possibly damaging	Het
Or5b98	A	G	19: 12,931,811 (GRCm39)	N286S	probably damaging	Het
Or5d41	A	T	2: 88,055,366 (GRCm39)	Y3*	probably null	Het
Or5g25	T	A	2: 85,477,768 (GRCm39)	D299V	possibly damaging	Het
Or5g27	A	G	2: 85,409,640 (GRCm39)	D19G	probably benign	Het
Or6b1	T	G	6: 42,815,680 (GRCm39)	Y288*	probably null	Het
Or6c6	A	T	10: 129,186,426 (GRCm39)		probably benign	Het
Or8h10	G	A	2: 86,808,501 (GRCm39)	T213I	probably benign	Het
Osbpl11	T	A	16: 33,056,649 (GRCm39)	D694E	probably benign	Het
Pcm1	T	A	8: 41,746,547 (GRCm39)	Y1210N	probably benign	Het
Pdxk	T	C	10: 78,276,697 (GRCm39)	M293V	probably benign	Het
Plcb3	T	C	19: 6,940,235 (GRCm39)	I451V	probably benign	Het
Plekhm2	A	G	4: 141,361,687 (GRCm39)	F272S	probably damaging	Het
Pramel32	C	A	4: 88,546,202 (GRCm39)	R380L	probably benign	Het
Ptgdr	A	T	14: 45,095,689 (GRCm39)		probably null	Het
Ptprf	C	T	4: 118,083,720 (GRCm39)	V788I	probably benign	Het
Ralbp1	C	T	17: 66,161,143 (GRCm39)	V467I	probably benign	Het
Ralgds	A	C	2: 28,433,667 (GRCm39)	Q229P	possibly damaging	Het
Recql	T	C	6: 142,320,610 (GRCm39)	D146G	probably damaging	Het
Reln	T	C	5: 22,256,365 (GRCm39)	N493S	probably damaging	Het
Rfxank	C	T	8: 70,587,936 (GRCm39)		probably null	Het
Scn5a	A	T	9: 119,315,596 (GRCm39)	M1704K	probably damaging	Het
Slco1a6	A	T	6: 142,036,794 (GRCm39)	C538S	probably benign	Het
Stard6	T	C	18: 70,631,718 (GRCm39)		probably null	Het
Strip2	T	A	6: 29,927,612 (GRCm39)	M219K	possibly damaging	Het
Tcam1	T	C	11: 106,174,911 (GRCm39)	V122A	probably damaging	Het
Tha1	A	G	11: 117,760,516 (GRCm39)	V236A	possibly damaging	Het
Tmem201	A	T	4: 149,815,554 (GRCm39)	I132N	possibly damaging	Het
Tnc	T	C	4: 63,938,894 (GRCm39)		probably benign	Het
Vmn1r42	T	C	6: 89,822,495 (GRCm39)	T25A	probably benign	Het
Vmn2r94	T	A	17: 18,464,765 (GRCm39)		probably null	Het
Wdfy4	A	C	14: 32,790,863 (GRCm39)	V2188G		Het
Zfp623	T	C	15: 75,819,247 (GRCm39)	S68P	probably damaging	Het
Zfp950	A	T	19: 61,107,593 (GRCm39)	C497S	probably damaging	Het
Zkscan2	C	T	7: 123,079,327 (GRCm39)	E877K	probably damaging	Het
Zp3r	C	A	1: 130,504,790 (GRCm39)	V536L	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
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
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'- CAGTGTGGAGCTTAGAACTGGG -3'
(R):5'- ACATGTTCCAGTTCGCTCAG -3'

Sequencing Primer
(F):5'- TTAGAACTGGGGGCGGCTAATG -3'
(R):5'- AGTTCGCTCAGTCCTGGGAG -3'

Posted On

2019-09-13