Mutagenetix > Incidental Mutation

Incidental Mutation 'R8405:Slc7a5'

652354

Institutional Source

Beutler Lab

Gene Symbol

Slc7a5

Ensembl Gene

ENSMUSG00000040010

Gene Name

solute carrier family 7 (cationic amino acid transporter, y+ system), member 5

Synonyms

D0H16S474E, Gm42049, TA1, LAT1

MMRRC Submission

067879-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8405 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122607885-122634425 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 122613661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 297 (T297K)

Ref Sequence

ENSEMBL: ENSMUSP00000041557 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045557] [ENSMUST00000127664]

AlphaFold

Q9Z127

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045557
AA Change: T297K

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041557
Gene: ENSMUSG00000040010
AA Change: T297K

Domain	Start	End	E-Value	Type
low complexity region	4	27	N/A	INTRINSIC
Pfam:AA_permease_2	51	481	4.2e-65	PFAM
Pfam:AA_permease	56	489	1.6e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (49/50)

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted mutation die prenatally. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	T	C	3: 153,635,165 (GRCm39)		probably benign	Het
Anxa3	C	A	5: 96,978,295 (GRCm39)	D226E	probably benign	Het
Anxa8	T	C	14: 33,819,881 (GRCm39)	L290P	probably damaging	Het
Brd4	C	A	17: 32,448,505 (GRCm39)	K57N	unknown	Het
Cpne8	T	A	15: 90,456,235 (GRCm39)	Q176L	possibly damaging	Het
Csf2rb2	T	C	15: 78,172,093 (GRCm39)	D439G	possibly damaging	Het
Csmd3	A	G	15: 47,619,379 (GRCm39)	S1832P	probably damaging	Het
Cux1	A	G	5: 136,304,241 (GRCm39)	S1320P	possibly damaging	Het
Cyp2t4	A	T	7: 26,856,894 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,349,289 (GRCm39)	L2449Q	probably damaging	Het
Dock1	A	G	7: 134,379,192 (GRCm39)	M640V	probably benign	Het
Efcab3	G	A	11: 104,612,024 (GRCm39)	S622N	probably benign	Het
Ergic1	T	A	17: 26,874,096 (GRCm39)	I274N	probably damaging	Het
Fat3	T	C	9: 15,907,167 (GRCm39)	D2945G	probably damaging	Het
Fscb	T	C	12: 64,520,278 (GRCm39)	E396G	possibly damaging	Het
Gab1	T	A	8: 81,501,594 (GRCm39)	R581*	probably null	Het
Gabarapl1	A	G	6: 129,514,497 (GRCm39)	D45G	probably null	Het
Gfap	C	A	11: 102,782,255 (GRCm39)	Q418H	probably benign	Het
Gfap	T	A	11: 102,782,256 (GRCm39)	Q418L	probably benign	Het
Hectd1	T	A	12: 51,874,178 (GRCm39)	M33L	probably benign	Het
Kcnh7	T	A	2: 62,533,446 (GRCm39)	K1144N	probably benign	Het
Lrit3	C	T	3: 129,582,301 (GRCm39)	G562D	probably benign	Het
Mab21l1	A	T	3: 55,690,659 (GRCm39)	Q82L	probably damaging	Het
Naip6	C	T	13: 100,436,784 (GRCm39)	A580T	possibly damaging	Het
Nav1	T	C	1: 135,382,508 (GRCm39)	K1258R	unknown	Het
Nbas	C	A	12: 13,329,394 (GRCm39)	A113E	probably damaging	Het
Nlrp1b	A	T	11: 71,073,356 (GRCm39)	D162E	possibly damaging	Het
Nr2c1	A	T	10: 94,031,155 (GRCm39)	H572L	probably benign	Het
Or52s1	A	T	7: 102,861,408 (GRCm39)	I114F	probably benign	Het
Or56b2j	T	A	7: 104,353,208 (GRCm39)	S145T	probably benign	Het
Pcdha12	T	A	18: 37,154,250 (GRCm39)	V323E	possibly damaging	Het
Pgm5	T	A	19: 24,705,106 (GRCm39)	H469L	probably benign	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pja2	T	C	17: 64,616,505 (GRCm39)	E130G	possibly damaging	Het
Ppp2r2b	G	C	18: 42,778,805 (GRCm39)	D443E	probably benign	Het
Prdm9	T	A	17: 15,764,456 (GRCm39)	T775S	probably benign	Het
Rbm6	A	G	9: 107,730,016 (GRCm39)	S211P	probably benign	Het
Rgl2	C	T	17: 34,152,698 (GRCm39)	Q408*	probably null	Het
Rgs14	C	T	13: 55,530,962 (GRCm39)	R389W	probably damaging	Het
Rtcb	T	C	10: 85,793,534 (GRCm39)	D13G	probably benign	Het
Slc23a4	C	T	6: 34,923,145 (GRCm39)	C280Y	probably benign	Het
Spef2	A	G	15: 9,612,643 (GRCm39)	V1229A	probably benign	Het
Stag3	A	C	5: 138,302,914 (GRCm39)	T1064P	probably damaging	Het
Tnnt1	A	G	7: 4,510,592 (GRCm39)	S211P	probably damaging	Het
Trim26	A	G	17: 37,167,095 (GRCm39)	D262G	possibly damaging	Het
Trim30a	A	T	7: 104,060,749 (GRCm39)	Y342*	probably null	Het
Trpm7	T	C	2: 126,658,755 (GRCm39)	I1134V	probably benign	Het
Tsc22d1	G	A	14: 76,655,734 (GRCm39)	G738S	probably damaging	Het
Usp39	A	G	6: 72,305,521 (GRCm39)	F421L	probably damaging	Het
Vmn2r97	G	A	17: 19,134,802 (GRCm39)		probably null	Het
Zfat	T	C	15: 68,018,410 (GRCm39)	Y968C	probably damaging	Het

Other mutations in Slc7a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02192:Slc7a5	APN	8	122,613,129 (GRCm39)	intron	probably benign
R0364:Slc7a5	UTSW	8	122,611,754 (GRCm39)	missense	probably benign
R0580:Slc7a5	UTSW	8	122,611,855 (GRCm39)	missense	probably benign	0.21
R0965:Slc7a5	UTSW	8	122,633,840 (GRCm39)	missense	probably benign	0.01
R1274:Slc7a5	UTSW	8	122,610,453 (GRCm39)	missense	probably benign	0.44
R2135:Slc7a5	UTSW	8	122,610,444 (GRCm39)	missense	probably null	0.96
R4163:Slc7a5	UTSW	8	122,615,139 (GRCm39)	missense	probably benign	0.00
R4506:Slc7a5	UTSW	8	122,614,234 (GRCm39)	critical splice donor site	probably null
R4910:Slc7a5	UTSW	8	122,611,861 (GRCm39)	missense	probably damaging	0.96
R5243:Slc7a5	UTSW	8	122,623,274 (GRCm39)	missense	probably damaging	1.00
R5449:Slc7a5	UTSW	8	122,613,087 (GRCm39)	missense	probably damaging	1.00
R5719:Slc7a5	UTSW	8	122,610,381 (GRCm39)	missense	probably benign	0.00
R5744:Slc7a5	UTSW	8	122,615,121 (GRCm39)	missense	probably benign	0.00
R7473:Slc7a5	UTSW	8	122,615,162 (GRCm39)	missense	probably benign
R7499:Slc7a5	UTSW	8	122,610,461 (GRCm39)	missense	probably damaging	1.00
R7663:Slc7a5	UTSW	8	122,614,274 (GRCm39)	nonsense	probably null
R7680:Slc7a5	UTSW	8	122,634,006 (GRCm39)	missense	probably damaging	1.00
R7682:Slc7a5	UTSW	8	122,633,879 (GRCm39)	missense	probably damaging	0.99
R8382:Slc7a5	UTSW	8	122,612,691 (GRCm39)	missense	probably damaging	1.00
R8551:Slc7a5	UTSW	8	122,613,050 (GRCm39)	missense	probably damaging	0.99
R9513:Slc7a5	UTSW	8	122,613,616 (GRCm39)	missense	probably benign	0.00
R9727:Slc7a5	UTSW	8	122,613,085 (GRCm39)	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- TTAGTGGACACCAATCATGACC -3'
(R):5'- AAGTCCAGTGGGCTTGTCAG -3'

Sequencing Primer
(F):5'- CACCAGATTCCCAGGTATGGTGAG -3'
(R):5'- TTGTTTGCCCAAAAAGTGAGGCC -3'

Posted On

2020-10-20