Mutagenetix > Incidental Mutations

Incidental Mutation 'R5355:Slc7a13'

424028

Institutional Source

Beutler Lab

Gene Symbol

Slc7a13

Ensembl Gene

ENSMUSG00000041052

Gene Name

solute carrier family 7, (cationic amino acid transporter, y+ system) member 13

Synonyms

AGT1, XAT2, AGT-1, 0610009O04Rik

MMRRC Submission

042934-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5355 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19818725-19842218 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 19839267 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 290 (T290K)

Ref Sequence

ENSEMBL: ENSMUSP00000036228 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035890]

Predicted Effect

probably benign
Transcript: ENSMUST00000035890
AA Change: T290K

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000036228
Gene: ENSMUSG00000041052
AA Change: T290K

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	17	440	3.3e-44	PFAM
Pfam:AA_permease	21	454	3.7e-19	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

94% (50/53)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	C	5: 8,726,873	L857P	probably damaging	Het
Adam12	T	C	7: 133,887,942	*582W	probably null	Het
Adra1d	A	G	2: 131,561,087	V361A	probably damaging	Het
Ank2	A	G	3: 126,944,049		probably benign	Het
Atxn10	T	A	15: 85,462,314	N424K	probably damaging	Het
C8b	A	G	4: 104,780,663	T111A	probably benign	Het
Cdc45	C	T	16: 18,795,897	R205H	probably damaging	Het
Cdr2l	T	C	11: 115,393,570	V244A	possibly damaging	Het
Col11a2	A	G	17: 34,051,801	M468V	probably benign	Het
Col4a2	G	A	8: 11,445,984	R1535H	probably damaging	Het
Cryab	A	T	9: 50,753,451	S59C	probably damaging	Het
Cuzd1	G	A	7: 131,316,124	T249I	probably damaging	Het
Disp2	G	A	2: 118,786,911	V129M	probably benign	Het
Dlg2	G	T	7: 91,449,803	R31L	probably benign	Het
Dthd1	A	C	5: 62,839,387	L488F	probably damaging	Het
Dupd1	G	A	14: 21,677,023	R186W	probably benign	Het
Fat2	T	G	11: 55,282,166	I2574L	probably damaging	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Fryl	T	C	5: 73,073,904	D1610G	probably damaging	Het
Gm10330	T	A	12: 23,780,130	N17Y	probably damaging	Het
Gm4787	T	A	12: 81,377,465	R640*	probably null	Het
Gm8251	A	C	1: 44,057,979	C1320G	possibly damaging	Het
Hist1h2bl	A	T	13: 21,715,860	I95N	probably damaging	Het
Ift88	T	A	14: 57,438,242	S71T	probably benign	Het
Isoc2b	A	G	7: 4,849,358		probably benign	Het
Itgb2	G	T	10: 77,558,052	R442L	probably benign	Het
Lama5	A	T	2: 180,181,651	N2658K	possibly damaging	Het
Lemd3	A	T	10: 120,933,633	I598K	probably damaging	Het
Lrp2	A	T	2: 69,454,838	C3825*	probably null	Het
Mep1a	T	C	17: 43,477,146	D673G	probably damaging	Het
Met	A	G	6: 17,491,362	Y41C	probably damaging	Het
Mfn2	A	G	4: 147,894,578	V99A	probably damaging	Het
Mmadhc	A	G	2: 50,291,424	I78T	probably benign	Het
Mmp9	C	A	2: 164,950,992	P389T	possibly damaging	Het
Mvk	T	G	5: 114,452,438	S7A	probably damaging	Het
Nlrp1a	T	A	11: 71,124,251	T58S	probably benign	Het
Nlrp1c-ps	C	A	11: 71,258,013		noncoding transcript	Het
Nr1h3	A	G	2: 91,191,908	I125T	possibly damaging	Het
Olfr1089	A	T	2: 86,733,336	I92K	probably damaging	Het
Olfr443-ps1	C	T	6: 43,094,664		noncoding transcript	Het
Parn	A	G	16: 13,668,022	I3T	possibly damaging	Het
Parp8	A	G	13: 116,862,204		probably null	Het
Parva	T	C	7: 112,544,268		probably null	Het
Pwp2	A	C	10: 78,175,544	I672M	possibly damaging	Het
Sfswap	C	T	5: 129,539,746	T418I	probably benign	Het
Slc6a3	A	G	13: 73,560,959	Y334C	probably damaging	Het
Spry2	A	G	14: 105,893,278	L158P	probably damaging	Het
Usp25	A	G	16: 77,050,454	E150G	probably damaging	Het
Zfp747	A	G	7: 127,374,597	F134L	possibly damaging	Het
Zp3r	A	G	1: 130,596,781	F175S	probably benign	Het
Zscan22	C	A	7: 12,906,508	N67K	probably benign	Het

Other mutations in Slc7a13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01769:Slc7a13	APN	4	19839527	missense	probably benign	0.00
IGL02491:Slc7a13	APN	4	19841404	missense	probably damaging	0.98
IGL02541:Slc7a13	APN	4	19839212	splice site	probably benign
IGL02814:Slc7a13	APN	4	19839387	missense	probably benign
R0145:Slc7a13	UTSW	4	19818782	start gained	probably benign
R0305:Slc7a13	UTSW	4	19839401	missense	probably benign	0.12
R0468:Slc7a13	UTSW	4	19841500	missense	probably benign	0.04
R0522:Slc7a13	UTSW	4	19824010	missense	probably benign	0.02
R0848:Slc7a13	UTSW	4	19818866	missense	probably benign	0.00
R1240:Slc7a13	UTSW	4	19819212	missense	probably damaging	1.00
R1623:Slc7a13	UTSW	4	19824031	missense	possibly damaging	0.84
R1830:Slc7a13	UTSW	4	19819046	missense	probably benign	0.33
R1903:Slc7a13	UTSW	4	19839254	missense	probably benign	0.01
R1952:Slc7a13	UTSW	4	19841578	missense	probably benign
R2229:Slc7a13	UTSW	4	19839399	missense	probably benign	0.43
R2887:Slc7a13	UTSW	4	19819052	missense	possibly damaging	0.69
R4175:Slc7a13	UTSW	4	19819492	missense	probably null	0.99
R4233:Slc7a13	UTSW	4	19819070	missense	probably damaging	0.97
R4764:Slc7a13	UTSW	4	19819390	missense	probably benign	0.08
R4941:Slc7a13	UTSW	4	19841467	missense	probably damaging	1.00
R6221:Slc7a13	UTSW	4	19839305	missense	probably benign	0.00
R6641:Slc7a13	UTSW	4	19839534	missense	probably damaging	1.00
R7237:Slc7a13	UTSW	4	19839364	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTATTCATGGTGTAGTATGGTGAAC -3'
(R):5'- GCCATACTGATAATTAGTAGCACAG -3'

Sequencing Primer
(F):5'- TGGTGAACAAAAATACTGTTGAAGTG -3'
(R):5'- TTAGTAGCACAGCTATAAAGGGAG -3'

Posted On

2016-08-04