Mutagenetix > Incidental Mutation

Incidental Mutation 'R0305:Slc7a13'

24888

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

AGT-1, XAT2, 0610009O04Rik, AGT1

MMRRC Submission

038516-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0305 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19818727-19842213 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 19839401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 335 (H335N)

Ref Sequence

ENSEMBL: ENSMUSP00000036228 (fasta)

Gene Model

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

AlphaFold

Q91WN3

Predicted Effect

probably benign
Transcript: ENSMUST00000035890
AA Change: H335N

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000036228
Gene: ENSMUSG00000041052
AA Change: H335N

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

0.1134

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 91.2%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	G	A	7: 27,274,061 (GRCm39)	R183Q	probably damaging	Het
Abca5	A	G	11: 110,164,137 (GRCm39)		probably benign	Het
Ada	T	C	2: 163,570,077 (GRCm39)	K312R	probably benign	Het
Adam21	C	A	12: 81,607,059 (GRCm39)	K234N	possibly damaging	Het
Afdn	T	A	17: 14,108,776 (GRCm39)		probably null	Het
Aimp1	T	G	3: 132,379,747 (GRCm39)	K132Q	possibly damaging	Het
Aldh16a1	C	T	7: 44,797,403 (GRCm39)	R135Q	probably damaging	Het
Alox12b	A	T	11: 69,058,205 (GRCm39)	Y519F	probably benign	Het
Alppl2	T	C	1: 87,017,324 (GRCm39)	E25G	probably benign	Het
Apob	A	T	12: 8,062,210 (GRCm39)	N3531I	probably damaging	Het
Arhgap23	T	C	11: 97,391,935 (GRCm39)	L321P	probably damaging	Het
Cab39l	C	T	14: 59,757,028 (GRCm39)	Q137*	probably null	Het
Cenpo	A	T	12: 4,266,660 (GRCm39)	H149Q	possibly damaging	Het
Cpt1a	A	G	19: 3,428,455 (GRCm39)	T610A	probably benign	Het
Dcbld2	A	G	16: 58,269,302 (GRCm39)	T271A	probably damaging	Het
Dcps	A	G	9: 35,087,065 (GRCm39)		probably null	Het
Dnai2	A	G	11: 114,643,720 (GRCm39)	D462G	probably benign	Het
Dsg2	T	A	18: 20,715,752 (GRCm39)		probably benign	Het
Eomes	A	T	9: 118,313,825 (GRCm39)	E623D	probably benign	Het
Fras1	A	T	5: 96,744,747 (GRCm39)	H594L	probably benign	Het
Gad1-ps	T	G	10: 99,280,665 (GRCm39)		noncoding transcript	Het
Galk2	A	G	2: 125,729,808 (GRCm39)	Y63C	probably damaging	Het
H2-T10	A	G	17: 36,430,260 (GRCm39)	L227P	probably damaging	Het
Itgb4	T	G	11: 115,870,238 (GRCm39)	C73G	probably damaging	Het
Itpr2	T	C	6: 146,212,601 (GRCm39)	H1472R	possibly damaging	Het
Kcnh5	C	T	12: 75,161,171 (GRCm39)	A246T	probably benign	Het
Kpna6	G	T	4: 129,543,042 (GRCm39)	R458S	probably benign	Het
Lifr	A	G	15: 7,206,982 (GRCm39)	T498A	probably damaging	Het
Lrrd1	T	G	5: 3,915,707 (GRCm39)	I768S	probably damaging	Het
Map2	T	C	1: 66,452,253 (GRCm39)	V223A	probably benign	Het
Nod2	G	A	8: 89,391,951 (GRCm39)	A731T	probably damaging	Het
Nrxn2	G	A	19: 6,569,313 (GRCm39)	C1403Y	probably damaging	Het
Nxph1	A	T	6: 9,247,754 (GRCm39)	I242F	probably damaging	Het
Or5p79	G	A	7: 108,221,792 (GRCm39)	V258I	probably benign	Het
Pgr	A	G	9: 8,902,088 (GRCm39)		probably benign	Het
Pik3cb	A	G	9: 98,946,129 (GRCm39)	S566P	possibly damaging	Het
Sema4d	T	C	13: 51,866,764 (GRCm39)	Y242C	probably damaging	Het
Sftpc	T	A	14: 70,761,518 (GRCm39)		probably benign	Het
Sh3tc1	T	G	5: 35,881,343 (GRCm39)	E33D	probably benign	Het
Slc17a5	A	G	9: 78,464,819 (GRCm39)	L344P	probably benign	Het
Slc39a5	T	A	10: 128,234,265 (GRCm39)		probably benign	Het
Slco1a4	A	C	6: 141,763,479 (GRCm39)	N412K	possibly damaging	Het
Sox1	A	T	8: 12,446,736 (GRCm39)	T126S	probably damaging	Het
Specc1l	T	A	10: 75,081,663 (GRCm39)	V353E	probably damaging	Het
Stat5b	T	C	11: 100,693,329 (GRCm39)	E104G	probably benign	Het
Sult4a1	A	G	15: 83,970,868 (GRCm39)	V179A	probably damaging	Het
Tafa5	T	A	15: 87,604,709 (GRCm39)	I83N	probably damaging	Het
Tbl3	G	A	17: 24,924,435 (GRCm39)	R134C	probably damaging	Het
Tmem256	T	A	11: 69,729,737 (GRCm39)		probably benign	Het
Tmigd1	A	G	11: 76,797,960 (GRCm39)	T101A	probably damaging	Het
Unc5b	C	A	10: 60,615,437 (GRCm39)		probably benign	Het
Unc79	T	A	12: 103,079,459 (GRCm39)	S1679T	probably benign	Het
Vmn2r1	T	G	3: 63,997,087 (GRCm39)	C248G	probably damaging	Het
Vmn2r57	T	C	7: 41,076,967 (GRCm39)	I400V	probably benign	Het
Vwa8	T	A	14: 79,246,713 (GRCm39)	L685H	probably damaging	Het
Yeats4	A	G	10: 117,051,741 (GRCm39)	F172S	probably damaging	Het
Zfpm2	T	G	15: 40,637,431 (GRCm39)		probably benign	Het

Other mutations in Slc7a13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01769:Slc7a13	APN	4	19,839,527 (GRCm39)	missense	probably benign	0.00
IGL02491:Slc7a13	APN	4	19,841,404 (GRCm39)	missense	probably damaging	0.98
IGL02541:Slc7a13	APN	4	19,839,212 (GRCm39)	splice site	probably benign
IGL02814:Slc7a13	APN	4	19,839,387 (GRCm39)	missense	probably benign
R0145:Slc7a13	UTSW	4	19,818,782 (GRCm39)	start gained	probably benign
R0468:Slc7a13	UTSW	4	19,841,500 (GRCm39)	missense	probably benign	0.04
R0522:Slc7a13	UTSW	4	19,824,010 (GRCm39)	missense	probably benign	0.02
R0848:Slc7a13	UTSW	4	19,818,866 (GRCm39)	missense	probably benign	0.00
R1240:Slc7a13	UTSW	4	19,819,212 (GRCm39)	missense	probably damaging	1.00
R1623:Slc7a13	UTSW	4	19,824,031 (GRCm39)	missense	possibly damaging	0.84
R1830:Slc7a13	UTSW	4	19,819,046 (GRCm39)	missense	probably benign	0.33
R1903:Slc7a13	UTSW	4	19,839,254 (GRCm39)	missense	probably benign	0.01
R1952:Slc7a13	UTSW	4	19,841,578 (GRCm39)	missense	probably benign
R2229:Slc7a13	UTSW	4	19,839,399 (GRCm39)	missense	probably benign	0.43
R2887:Slc7a13	UTSW	4	19,819,052 (GRCm39)	missense	possibly damaging	0.69
R4175:Slc7a13	UTSW	4	19,819,492 (GRCm39)	missense	probably null	0.99
R4233:Slc7a13	UTSW	4	19,819,070 (GRCm39)	missense	probably damaging	0.97
R4764:Slc7a13	UTSW	4	19,819,390 (GRCm39)	missense	probably benign	0.08
R4941:Slc7a13	UTSW	4	19,841,467 (GRCm39)	missense	probably damaging	1.00
R5355:Slc7a13	UTSW	4	19,839,267 (GRCm39)	missense	probably benign	0.43
R6221:Slc7a13	UTSW	4	19,839,305 (GRCm39)	missense	probably benign	0.00
R6641:Slc7a13	UTSW	4	19,839,534 (GRCm39)	missense	probably damaging	1.00
R7237:Slc7a13	UTSW	4	19,839,364 (GRCm39)	missense	probably benign
R8188:Slc7a13	UTSW	4	19,819,082 (GRCm39)	missense	probably benign	0.03
R8384:Slc7a13	UTSW	4	19,823,984 (GRCm39)	missense	probably damaging	1.00
R8753:Slc7a13	UTSW	4	19,841,443 (GRCm39)	missense	probably damaging	0.99
R8830:Slc7a13	UTSW	4	19,819,189 (GRCm39)	missense	probably benign	0.01
R9140:Slc7a13	UTSW	4	19,819,487 (GRCm39)	missense	possibly damaging	0.72
R9663:Slc7a13	UTSW	4	19,818,818 (GRCm39)	missense	possibly damaging	0.84
R9764:Slc7a13	UTSW	4	19,819,033 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- CAGACAGGGTCATTCCCCAATTCAC -3'
(R):5'- AGTCACAGCACAGTGTGTTCACC -3'

Sequencing Primer
(F):5'- ATTCCCCAATTCACATGGACTG -3'
(R):5'- GCACAGTGTGTTCACCAATATC -3'

Posted On

2013-04-16