Mutagenetix > Incidental Mutation

Incidental Mutation 'R3826:Slc7a8'

275427

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.453) question?

Stock #

R3826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54959672-55019343 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54975029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 200 (I200T)

Ref Sequence

ENSEMBL: ENSMUSP00000022787 (fasta)

Gene Model

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

AlphaFold

Q9QXW9

Predicted Effect

probably damaging
Transcript: ENSMUST00000022787
AA Change: I200T

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

SMART Domains

Protein: ENSMUSP00000022787
Gene: ENSMUSG00000022180
AA Change: I200T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226646

Meta Mutation Damage Score

0.7544

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

100% (56/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	T	A	3: 59,843,896 (GRCm39)	S197T	possibly damaging	Het
Actl6b	T	C	5: 137,565,535 (GRCm39)	L377P	probably damaging	Het
Apc	C	A	18: 34,412,388 (GRCm39)	Q236K	possibly damaging	Het
Atn1	G	A	6: 124,723,182 (GRCm39)		probably benign	Het
Ccr3	A	G	9: 123,829,714 (GRCm39)	T350A	possibly damaging	Het
Cdc42bpg	T	C	19: 6,367,675 (GRCm39)	V1015A	probably damaging	Het
Chd2	A	G	7: 73,141,163 (GRCm39)	Y577H	possibly damaging	Het
Col1a2	A	G	6: 4,516,960 (GRCm39)		probably benign	Het
Col4a1	C	A	8: 11,259,650 (GRCm39)	G1341V	probably damaging	Het
Commd9	C	A	2: 101,727,486 (GRCm39)	N93K	probably benign	Het
Cplane2	C	T	4: 140,945,900 (GRCm39)	R148C	probably damaging	Het
Cx3cl1	A	T	8: 95,503,934 (GRCm39)		probably benign	Het
Dhx37	T	C	5: 125,508,677 (GRCm39)	K86R	probably benign	Het
Dlec1	T	C	9: 118,972,129 (GRCm39)		probably benign	Het
Dnah17	G	A	11: 117,931,984 (GRCm39)		probably benign	Het
Fam234a	T	C	17: 26,437,163 (GRCm39)	E172G	probably benign	Het
Ffar2	A	T	7: 30,519,510 (GRCm39)	I10N	possibly damaging	Het
Gas2	T	C	7: 51,586,367 (GRCm39)		probably null	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Grpel1	T	A	5: 36,626,827 (GRCm39)	N36K	probably benign	Het
Hgfac	C	A	5: 35,205,506 (GRCm39)	D595E	probably damaging	Het
Kcnj10	A	T	1: 172,197,616 (GRCm39)	S377C	probably damaging	Het
Kcnq2	C	T	2: 180,746,693 (GRCm39)	V369I	possibly damaging	Het
Kcnt1	T	C	2: 25,805,880 (GRCm39)		probably null	Het
Lpcat1	T	C	13: 73,637,212 (GRCm39)	I114T	possibly damaging	Het
Mast4	G	T	13: 102,875,319 (GRCm39)	H1350N	probably damaging	Het
Mcts1	T	C	X: 37,691,445 (GRCm39)		probably benign	Het
Muc21	A	G	17: 35,932,504 (GRCm39)		probably benign	Het
Myg1	G	C	15: 102,246,171 (GRCm39)	G349R	probably damaging	Het
Ncor2	T	C	5: 125,195,756 (GRCm39)		probably benign	Het
Or1o4	T	A	17: 37,591,140 (GRCm39)	Y57F	probably damaging	Het
Or5t17	T	A	2: 86,832,388 (GRCm39)	I25K	probably damaging	Het
Or9g4b	C	T	2: 85,616,559 (GRCm39)	R235*	probably null	Het
Panx2	A	G	15: 88,952,664 (GRCm39)	D377G	probably damaging	Het
Pcdhb10	C	A	18: 37,545,470 (GRCm39)	T182N	probably damaging	Het
Pdha2	G	T	3: 140,916,889 (GRCm39)	F206L	possibly damaging	Het
Pgd	T	C	4: 149,250,461 (GRCm39)		probably benign	Het
Pgs1	C	T	11: 117,910,584 (GRCm39)		probably null	Het
Rere	T	C	4: 150,554,785 (GRCm39)	V161A	probably benign	Het
Rgs12	G	A	5: 35,123,359 (GRCm39)	V381M	possibly damaging	Het
Rrm2	G	T	12: 24,758,598 (GRCm39)	A47S	probably benign	Het
Rsph6a	T	C	7: 18,791,539 (GRCm39)	L236P	probably damaging	Het
Rtkn2	A	T	10: 67,833,456 (GRCm39)		probably null	Het
Rubcnl	C	T	14: 75,269,665 (GRCm39)	L108F	possibly damaging	Het
Sap18b	T	C	8: 96,552,185 (GRCm39)	F65S	probably damaging	Het
Scap	A	G	9: 110,210,365 (GRCm39)	M925V	probably benign	Het
Srrm3	A	G	5: 135,886,068 (GRCm39)	D336G	probably damaging	Het
Stk11	T	C	10: 79,963,782 (GRCm39)		probably null	Het
Tiam2	C	G	17: 3,557,976 (GRCm39)		probably benign	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Trio	T	A	15: 27,833,156 (GRCm39)	K75N	probably damaging	Het
Tspan18	T	C	2: 93,050,453 (GRCm39)	I57V	probably benign	Het
Ube3b	C	A	5: 114,538,012 (GRCm39)	Q368K	probably damaging	Het
Zfhx4	A	T	3: 5,466,269 (GRCm39)	K2142N	probably damaging	Het
Zfp37	T	C	4: 62,110,800 (GRCm39)	N88S	probably benign	Het
Zswim8	C	T	14: 20,761,157 (GRCm39)	R142*	probably null	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
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
R6144:Slc7a8	UTSW	14	54,966,797 (GRCm39)	missense	probably damaging	1.00
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'- GAAGTGGGCATCCCTAATCC -3'
(R):5'- CCAAAGTTTCTGGTCACTGGGG -3'

Sequencing Primer
(F):5'- TCCCGAGTAAAACACTGTCTC -3'
(R):5'- TCACTGGGGCTGCAAGTG -3'

Posted On

2015-04-02