Mutagenetix > Incidental Mutations

Incidental Mutation 'R3938:Slc7a8'

307300

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

040825-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.606) question?

Stock #

R3938 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54722209-54781946 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54735841 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 223 (E223V)

Ref Sequence

ENSEMBL: ENSMUSP00000022787 (fasta)

Gene Model

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

AlphaFold

Q9QXW9

Predicted Effect

probably benign
Transcript: ENSMUST00000022787
AA Change: E223V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000022787
Gene: ENSMUSG00000022180
AA Change: E223V

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

0.0702

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (57/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	C	T	7: 28,154,294	P1561L	probably damaging	Het
Adamts1	C	T	16: 85,795,619	V634M	possibly damaging	Het
Arid4b	A	T	13: 14,186,928	N659I	probably benign	Het
BC049715	T	C	6: 136,840,455	I231T	possibly damaging	Het
Bmp4	T	C	14: 46,384,079	Y336C	probably damaging	Het
Ccdc30	G	A	4: 119,352,673	T293I	probably benign	Het
Chd5	A	T	4: 152,377,055	T1275S	probably benign	Het
Chtf8	A	T	8: 106,885,905	M134K	probably benign	Het
Col11a2	A	T	17: 34,039,625		probably benign	Het
Cyp8b1	A	G	9: 121,915,618	V216A	probably benign	Het
Dnah8	C	T	17: 30,854,937	T4527M	probably damaging	Het
Elavl3	A	G	9: 22,018,744	V288A	probably damaging	Het
Erap1	T	A	13: 74,668,028	L92Q	probably damaging	Het
Exoc3l	G	T	8: 105,293,405	P296H	probably damaging	Het
Gm5294	A	T	5: 138,820,968	N78Y	probably damaging	Het
Hacl1	T	C	14: 31,634,191		probably benign	Het
Hrnr	T	A	3: 93,322,855	N133K	probably benign	Het
Itgax	G	T	7: 128,136,273	R504S	possibly damaging	Het
Itgb4	A	G	11: 116,005,926	S1461G	possibly damaging	Het
Klkb1	G	T	8: 45,282,801	T175K	probably damaging	Het
Lrrk2	A	T	15: 91,712,780	D525V	possibly damaging	Het
Lrrk2	C	A	15: 91,778,504	T1912K	probably damaging	Het
Mdga1	G	T	17: 29,857,622	Q59K	probably damaging	Het
Mpp4	A	G	1: 59,124,683	V466A	possibly damaging	Het
Myh6	T	C	14: 54,963,055	D203G	probably benign	Het
Myo5b	T	C	18: 74,716,037	S1116P	probably damaging	Het
Nemp1	T	C	10: 127,695,473	L311P	probably damaging	Het
Nup205	A	G	6: 35,219,742	R1138G	probably damaging	Het
Nup54	A	G	5: 92,417,529	M443T	probably damaging	Het
Peak1	T	C	9: 56,260,365	E93G	probably benign	Het
Pirb	A	T	7: 3,717,638	L287Q	probably benign	Het
Plekhj1	A	G	10: 80,797,775	I76T	probably damaging	Het
Poll	A	G	19: 45,558,418		probably benign	Het
Ppp1r3a	A	T	6: 14,719,074	S614T	probably damaging	Het
Pygm	A	T	19: 6,392,950	I556F	probably benign	Het
Ranbp2	T	C	10: 58,476,472	F1005L	probably benign	Het
Rcor3	G	T	1: 192,101,085	T361K	possibly damaging	Het
Robo4	A	G	9: 37,402,017		probably benign	Het
Rps15	T	C	10: 80,293,839	V96A	probably benign	Het
Rrm2	T	A	12: 24,709,432	N55K	probably damaging	Het
Shank2	T	C	7: 144,128,375	Y382H	probably benign	Het
Slc25a10	G	T	11: 120,491,993	E3*	probably null	Het
Snx13	A	G	12: 35,144,097	K880E	probably benign	Het
Spinkl	T	G	18: 44,168,149	M41L	probably benign	Het
Srp54a	A	C	12: 55,089,257	N19T	probably benign	Het
Sun2	T	C	15: 79,734,155	K268E	probably benign	Het
Sytl1	G	A	4: 133,255,624	Q359*	probably null	Het
Tlr6	A	T	5: 64,953,595	F656L	probably damaging	Het
Tmem185a	C	T	X: 70,462,186		probably null	Het
Tmem45a2	C	T	16: 57,039,035	D278N	probably benign	Het
Trav7-1	T	C	14: 52,655,334		probably benign	Het
Trpc2	T	A	7: 102,093,574	M597K	probably damaging	Het
Ttc21a	A	G	9: 119,950,816		probably benign	Het
Usp9y	C	T	Y: 1,313,741	M2188I	probably damaging	Het
Utrn	C	A	10: 12,750,030		probably null	Het
Vmn1r35	T	A	6: 66,679,073	R204S	probably damaging	Het
Zfp955b	T	A	17: 33,305,416	Y59F	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
R0724:Slc7a8	UTSW	14	54735186	splice site	probably benign
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
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
R8781:Slc7a8	UTSW	14	54759539	critical splice donor site	probably benign
R8968:Slc7a8	UTSW	14	54781293	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCACGGTAGACCAGGACATG -3'
(R):5'- TCTCTCACACAGAAGGTTCACAG -3'

Sequencing Primer
(F):5'- CAAGAAGTGAGTCTGTGTTTCC -3'
(R):5'- GTTCACAGACAAGGAGCTAGCATATC -3'

Posted On

2015-04-17