Mutagenetix > Incidental Mutations

Incidental Mutation 'R0724:Slc7a8'

63829

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

038906-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.707) question?

Stock #

R0724 (G1)

Quality Score

101

Status

Validated

Chromosome

Chromosomal Location

54722209-54781946 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 54735186 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022787 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000022787

SMART Domains

Protein: ENSMUSP00000022787
Gene: ENSMUSG00000022180

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

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.5%
20x: 95.2%

Validation Efficiency

100% (62/62)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 145,044,763	E136G	probably benign	Het
Adgre4	T	A	17: 55,852,281	S655R	probably benign	Het
Ak7	T	A	12: 105,710,254	V71E	probably benign	Het
Ank2	C	T	3: 126,962,337	R1077H	probably damaging	Het
Anxa3	A	G	5: 96,828,748	T198A	possibly damaging	Het
Atp1a1	A	T	3: 101,592,439	I109N	possibly damaging	Het
Camta1	A	G	4: 151,077,892	I119T	probably damaging	Het
Carm1	A	G	9: 21,587,374	Y504C	probably damaging	Het
Casp1	C	T	9: 5,303,077	P177L	probably benign	Het
Ccdc122	C	A	14: 77,092,077		probably benign	Het
Ces1a	A	G	8: 93,039,513	S158P	probably damaging	Het
Ces3a	T	A	8: 105,050,195	D103E	possibly damaging	Het
Clstn1	A	C	4: 149,643,624	D583A	possibly damaging	Het
Corin	A	G	5: 72,332,795		probably benign	Het
Cryba1	T	C	11: 77,719,457	D144G	probably damaging	Het
Cwf19l2	G	T	9: 3,421,377		probably null	Het
Dis3l	T	C	9: 64,307,126	T1027A	possibly damaging	Het
Dopey2	A	G	16: 93,762,325	E653G	probably benign	Het
Dst	A	G	1: 34,188,677	I1459V	probably benign	Het
Dyrk3	T	C	1: 131,130,140	T64A	probably benign	Het
Emp2	C	T	16: 10,284,615	C111Y	probably benign	Het
Enam	A	G	5: 88,501,994	Y454C	probably damaging	Het
Fbn1	A	T	2: 125,352,064	C1328S	probably benign	Het
Gata3	T	C	2: 9,874,575	T197A	probably benign	Het
Gm1043	A	G	5: 37,187,229	T212A	probably damaging	Het
Gm15448	T	C	7: 3,816,872	N564S	possibly damaging	Het
H2-Eb1	T	C	17: 34,315,032		probably benign	Het
Hand1	T	C	11: 57,831,680	H36R	probably damaging	Het
Hmgcs2	C	A	3: 98,297,001	Y239*	probably null	Het
Hoxc12	A	G	15: 102,937,055	Y68C	probably damaging	Het
Inpp5a	A	G	7: 139,516,663	I143V	probably benign	Het
Klhdc2	C	A	12: 69,297,048	F18L	probably benign	Het
Kpnb1	T	C	11: 97,178,304	Y251C	probably damaging	Het
Lrch4	A	T	5: 137,637,308	N315I	probably damaging	Het
Map3k10	A	C	7: 27,668,355	V286G	probably damaging	Het
Myo7b	G	A	18: 32,005,549		probably benign	Het
Nlrp2	G	T	7: 5,319,222	L809I	probably damaging	Het
Oacyl	T	C	18: 65,737,825		probably benign	Het
Olfr735	A	G	14: 50,345,917	V175A	possibly damaging	Het
Paxbp1	T	A	16: 91,036,536	D270V	probably damaging	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Plcb3	G	A	19: 6,963,392	R359C	probably damaging	Het
Plcxd3	G	A	15: 4,516,868	S118N	probably damaging	Het
Ptpn14	T	C	1: 189,850,947	S664P	possibly damaging	Het
Sirt1	T	C	10: 63,323,973	I443V	possibly damaging	Het
Smim14	A	G	5: 65,453,339		probably benign	Het
Sost	C	T	11: 101,966,918	C19Y	probably benign	Het
Tcaf1	G	T	6: 42,675,367	A727E	probably damaging	Het
Thoc1	T	C	18: 9,963,829	L144P	probably damaging	Het
Tmem132b	A	T	5: 125,783,421	T577S	possibly damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Tshr	T	C	12: 91,538,286	F666S	probably damaging	Het
Wdr1	A	G	5: 38,540,862	V192A	possibly damaging	Het
Zfp697	T	C	3: 98,428,166	W416R	probably damaging	Het

Other mutations in Slc7a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Slc7a8	APN	14	54735124	missense	probably benign	0.25
IGL01366:Slc7a8	APN	14	54781188	missense	probably damaging	1.00
R0582:Slc7a8	UTSW	14	54758444	missense	probably damaging	1.00
R1122:Slc7a8	UTSW	14	54724107	missense	probably benign
R1468:Slc7a8	UTSW	14	54733199	missense	probably damaging	1.00
R1468:Slc7a8	UTSW	14	54733199	missense	probably damaging	1.00
R1667:Slc7a8	UTSW	14	54724849	missense	probably damaging	1.00
R2878:Slc7a8	UTSW	14	54759686	missense	probably damaging	1.00
R3826:Slc7a8	UTSW	14	54737572	missense	probably damaging	1.00
R3938:Slc7a8	UTSW	14	54735841	missense	probably benign	0.01
R4513:Slc7a8	UTSW	14	54735790	missense	possibly damaging	0.94
R4514:Slc7a8	UTSW	14	54735790	missense	possibly damaging	0.94
R4524:Slc7a8	UTSW	14	54737602	missense	probably damaging	1.00
R4544:Slc7a8	UTSW	14	54735790	missense	possibly damaging	0.94
R4546:Slc7a8	UTSW	14	54735790	missense	possibly damaging	0.94
R5179:Slc7a8	UTSW	14	54724832	nonsense	probably null
R5395:Slc7a8	UTSW	14	54733277	nonsense	probably null
R6144:Slc7a8	UTSW	14	54729340	missense	probably damaging	1.00
R6537:Slc7a8	UTSW	14	54735119	missense	probably benign	0.03
R7337:Slc7a8	UTSW	14	54726806	missense	possibly damaging	0.67
R7404:Slc7a8	UTSW	14	54726826	missense	probably damaging	1.00
R7597:Slc7a8	UTSW	14	54781400	start gained	probably benign
R8188:Slc7a8	UTSW	14	54735122	missense	probably benign	0.00
R8485:Slc7a8	UTSW	14	54724807	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- GGCCCCTGAGCAATTTCTTACCAC -3'
(R):5'- TGGAGCCAGGCCCAGCTTTATATC -3'

Sequencing Primer
(F):5'- TTACCACAGCAACTGCATTGG -3'
(R):5'- TGCAGGGTCCAAATCTGAGTC -3'

Posted On

2013-07-30