Mutagenetix > Incidental Mutation

Incidental Mutation 'R6144:Slc7a8'

488765

Institutional Source

Beutler Lab

Gene Symbol

Slc7a8

Ensembl Gene

ENSMUSG00000022180

Gene Name

solute carrier family 7 (cationic amino acid transporter, y+ system), member 8

Synonyms

LAT2

MMRRC Submission

044291-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.534) question?

Stock #

R6144 (G1)

Quality Score

193.009

Status

Validated

Chromosome

Chromosomal Location

54959672-55019343 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54966797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 368 (L368P)

Ref Sequence

ENSEMBL: ENSMUSP00000022787 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022787]

AlphaFold

Q9QXW9

Predicted Effect

probably damaging
Transcript: ENSMUST00000022787
AA Change: L368P

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

SMART Domains

Protein: ENSMUSP00000022787
Gene: ENSMUSG00000022180
AA Change: L368P

Domain	Start	End	E-Value	Type
low complexity region	23	32	N/A	INTRINSIC
Pfam:AA_permease_2	39	463	8.9e-72	PFAM
Pfam:AA_permease	44	469	5.2e-41	PFAM

Meta Mutation Damage Score

0.9580

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

96% (65/68)

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted mutation display hypoactivity, decreased motor performance, and resistance to pharmacologically induced seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3300002I08Rik	A	T	2: 150,186,564 (GRCm39)	D40E	possibly damaging	Het
4921517D22Rik	C	T	13: 59,837,347 (GRCm39)	R246H	probably damaging	Het
Agbl1	A	G	7: 76,069,832 (GRCm39)	T203A	probably benign	Het
Alms1	T	A	6: 85,600,056 (GRCm39)	D2096E	probably damaging	Het
Ankrd53	T	C	6: 83,739,639 (GRCm39)		probably benign	Het
Arap3	C	A	18: 38,118,486 (GRCm39)	G814C	probably damaging	Het
Armc9	T	G	1: 86,172,301 (GRCm39)	I5S	probably benign	Het
Catsperg1	T	C	7: 28,910,120 (GRCm39)	T74A	probably damaging	Het
Cdca7l	T	A	12: 117,837,446 (GRCm39)		probably null	Het
Cfhr2	T	A	1: 139,733,153 (GRCm39)		probably benign	Het
Chpt1	A	G	10: 88,288,955 (GRCm39)		probably benign	Het
Cntrl	A	C	2: 35,055,745 (GRCm39)	D1213A	possibly damaging	Het
Col7a1	C	T	9: 108,803,148 (GRCm39)	R2149C	unknown	Het
Cpa4	T	C	6: 30,585,082 (GRCm39)	S289P	probably damaging	Het
Cpsf3	G	A	12: 21,356,887 (GRCm39)		probably null	Het
Creb3l1	T	C	2: 91,822,350 (GRCm39)	H212R	possibly damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp2c29	A	G	19: 39,310,053 (GRCm39)	D254G	possibly damaging	Het
Dennd1b	A	G	1: 139,008,993 (GRCm39)	H232R	probably damaging	Het
Dhx29	T	C	13: 113,101,105 (GRCm39)	L1216P	probably damaging	Het
Dsg1b	T	C	18: 20,529,476 (GRCm39)	I307T	possibly damaging	Het
Ep300	A	G	15: 81,485,435 (GRCm39)	S141G	unknown	Het
Evl	A	C	12: 108,619,290 (GRCm39)	K101T	probably damaging	Het
Exph5	G	A	9: 53,284,328 (GRCm39)	G470R	probably benign	Het
Flg	A	T	3: 93,190,515 (GRCm39)		probably benign	Het
Gm45704	T	A	8: 73,510,920 (GRCm39)			Het
Grm1	T	C	10: 10,955,640 (GRCm39)	M215V	probably benign	Het
Hadha	T	C	5: 30,345,994 (GRCm39)	D210G	probably benign	Het
Hmcn1	T	C	1: 150,598,175 (GRCm39)	Y1709C	probably damaging	Het
Hrc	A	T	7: 44,986,157 (GRCm39)	H436L	possibly damaging	Het
Hycc1	T	C	5: 24,171,367 (GRCm39)	S352G	possibly damaging	Het
Ido1	T	A	8: 25,075,306 (GRCm39)	T259S	possibly damaging	Het
Itgb7	C	A	15: 102,131,917 (GRCm39)	R222L	probably benign	Het
Khnyn	T	C	14: 56,125,296 (GRCm39)	V485A	probably damaging	Het
Kifc5b	T	C	17: 27,140,826 (GRCm39)	V100A	probably benign	Het
Lsm10	T	C	4: 125,991,794 (GRCm39)	M50T	probably damaging	Het
Map3k6	T	G	4: 132,972,986 (GRCm39)	W382G	probably damaging	Het
Mink1	T	A	11: 70,501,478 (GRCm39)	F922I	possibly damaging	Het
Mrap2	T	C	9: 87,057,871 (GRCm39)	V53A	probably damaging	Het
Mrps7	C	A	11: 115,495,000 (GRCm39)	A5E	probably benign	Het
Muc4	A	G	16: 32,587,298 (GRCm39)	N2713S	possibly damaging	Het
Nckipsd	T	C	9: 108,689,585 (GRCm39)	S249P	probably damaging	Het
Neil3	T	C	8: 54,052,447 (GRCm39)	T384A	probably benign	Het
Noc3l	A	T	19: 38,787,399 (GRCm39)	I504K	probably damaging	Het
Nudt13	A	G	14: 20,357,839 (GRCm39)	N107S	probably benign	Het
Or11h4b	C	A	14: 50,918,392 (GRCm39)	R233L	probably benign	Het
Or2n1	T	A	17: 38,486,116 (GRCm39)	L47H	probably damaging	Het
Or5c1	T	A	2: 37,222,125 (GRCm39)	M122K	probably damaging	Het
Otub1	G	T	19: 7,176,518 (GRCm39)	Y205*	probably null	Het
Pals1	T	C	12: 78,871,563 (GRCm39)	V381A	possibly damaging	Het
Pierce2	C	A	9: 72,887,270 (GRCm39)	C79F	probably damaging	Het
Plpp7	T	A	2: 31,986,100 (GRCm39)	S93T	probably damaging	Het
Pxk	T	G	14: 8,138,011 (GRCm38)	Y188D	probably damaging	Het
Rigi	T	C	4: 40,229,551 (GRCm39)	I78V	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpap1	A	T	2: 119,603,128 (GRCm39)	C602*	probably null	Het
Sbds	T	C	5: 130,275,185 (GRCm39)	K248E	probably benign	Het
Serpina10	A	T	12: 103,595,092 (GRCm39)	N42K	probably benign	Het
Srrm1	T	C	4: 135,065,184 (GRCm39)		probably benign	Het
Sun2	C	T	15: 79,614,533 (GRCm39)	V288I	probably benign	Het
Tas2r107	C	A	6: 131,636,966 (GRCm39)	A28S	possibly damaging	Het
Tbc1d9b	T	C	11: 50,037,155 (GRCm39)	I268T	probably benign	Het
Tjp2	A	G	19: 24,097,437 (GRCm39)	F495L	probably damaging	Het
Top2b	T	C	14: 16,423,740 (GRCm38)	L1434P	possibly damaging	Het
Top3b	A	G	16: 16,697,005 (GRCm39)		probably null	Het
Trdv2-2	A	T	14: 54,198,761 (GRCm39)	E17V	possibly damaging	Het
Ttc6	T	A	12: 57,719,886 (GRCm39)	L819Q	possibly damaging	Het
Txlnb	A	G	10: 17,718,914 (GRCm39)	T582A	probably benign	Het
Zfp788	T	C	7: 41,299,193 (GRCm39)	S558P	probably damaging	Het

Other mutations in Slc7a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Slc7a8	APN	14	54,972,581 (GRCm39)	missense	probably benign	0.25
IGL01366:Slc7a8	APN	14	55,018,645 (GRCm39)	missense	probably damaging	1.00
R0582:Slc7a8	UTSW	14	54,995,901 (GRCm39)	missense	probably damaging	1.00
R0724:Slc7a8	UTSW	14	54,972,643 (GRCm39)	splice site	probably benign
R1122:Slc7a8	UTSW	14	54,961,564 (GRCm39)	missense	probably benign
R1468:Slc7a8	UTSW	14	54,970,656 (GRCm39)	missense	probably damaging	1.00
R1468:Slc7a8	UTSW	14	54,970,656 (GRCm39)	missense	probably damaging	1.00
R1667:Slc7a8	UTSW	14	54,962,306 (GRCm39)	missense	probably damaging	1.00
R2878:Slc7a8	UTSW	14	54,997,143 (GRCm39)	missense	probably damaging	1.00
R3826:Slc7a8	UTSW	14	54,975,029 (GRCm39)	missense	probably damaging	1.00
R3938:Slc7a8	UTSW	14	54,973,298 (GRCm39)	missense	probably benign	0.01
R4513:Slc7a8	UTSW	14	54,973,247 (GRCm39)	missense	possibly damaging	0.94
R4514:Slc7a8	UTSW	14	54,973,247 (GRCm39)	missense	possibly damaging	0.94
R4524:Slc7a8	UTSW	14	54,975,059 (GRCm39)	missense	probably damaging	1.00
R4544:Slc7a8	UTSW	14	54,973,247 (GRCm39)	missense	possibly damaging	0.94
R4546:Slc7a8	UTSW	14	54,973,247 (GRCm39)	missense	possibly damaging	0.94
R5179:Slc7a8	UTSW	14	54,962,289 (GRCm39)	nonsense	probably null
R5395:Slc7a8	UTSW	14	54,970,734 (GRCm39)	nonsense	probably null
R6537:Slc7a8	UTSW	14	54,972,576 (GRCm39)	missense	probably benign	0.03
R7337:Slc7a8	UTSW	14	54,964,263 (GRCm39)	missense	possibly damaging	0.67
R7404:Slc7a8	UTSW	14	54,964,283 (GRCm39)	missense	probably damaging	1.00
R7597:Slc7a8	UTSW	14	55,018,857 (GRCm39)	start gained	probably benign
R8188:Slc7a8	UTSW	14	54,972,579 (GRCm39)	missense	probably benign	0.00
R8485:Slc7a8	UTSW	14	54,962,264 (GRCm39)	missense	probably benign	0.15
R8781:Slc7a8	UTSW	14	54,996,996 (GRCm39)	critical splice donor site	probably benign
R8968:Slc7a8	UTSW	14	55,018,750 (GRCm39)	missense	probably benign
R9623:Slc7a8	UTSW	14	54,964,341 (GRCm39)	missense	probably damaging	0.97
R9752:Slc7a8	UTSW	14	54,995,931 (GRCm39)	missense	probably benign	0.09
R9776:Slc7a8	UTSW	14	55,018,759 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGGCATTCATAAAGCCAGTGG -3'
(R):5'- ACAAAGGCAGGTTCCTAGCC -3'

Sequencing Primer
(F):5'- GCCACATCCGCCACCTTAG -3'
(R):5'- CAGGTTCCTAGCCTGTGGAG -3'

Posted On

2017-10-10