Mutagenetix > Incidental Mutation

Incidental Mutation 'R8830:Slc7a13'

673736

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8830 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19818725-19842218 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19819189 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 130 (S130P)

Ref Sequence

ENSEMBL: ENSMUSP00000036228 (fasta)

Gene Model

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

AlphaFold

Q91WN3

Predicted Effect

probably benign
Transcript: ENSMUST00000035890
AA Change: S130P

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

SMART Domains

Protein: ENSMUSP00000036228
Gene: ENSMUSG00000041052
AA Change: S130P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaed1	G	A	13: 64,297,300 (GRCm38)	Q170*	probably null	Het
Abca7	T	A	10: 80,008,971 (GRCm38)	V1509E	probably damaging	Het
Abraxas2	A	G	7: 132,883,356 (GRCm38)	D376G	probably damaging	Het
Agbl1	A	G	7: 76,335,311 (GRCm38)	T159A		Het
Ahnak2	G	A	12: 112,787,036 (GRCm38)	R89W		Het
Arhgef40	A	C	14: 52,003,708 (GRCm38)	D1396A	probably damaging	Het
Atp13a5	A	T	16: 29,248,176 (GRCm38)	F1060I	probably damaging	Het
Atp6v1c1	T	A	15: 38,677,545 (GRCm38)	F105I	probably damaging	Het
Atp9b	C	T	18: 80,765,800 (GRCm38)	E635K		Het
BC017643	C	T	11: 121,228,723 (GRCm38)		probably benign	Het
Brix1	T	A	15: 10,479,596 (GRCm38)	Q124L	possibly damaging	Het
Cep68	A	G	11: 20,230,418 (GRCm38)		probably benign	Het
Cfap46	A	G	7: 139,615,649 (GRCm38)	S2208P	unknown	Het
Crisp1	T	A	17: 40,294,419 (GRCm38)	K234*	probably null	Het
Cryzl1	C	T	16: 91,712,204 (GRCm38)	V70I	probably benign	Het
Dnah7b	T	C	1: 46,191,793 (GRCm38)	Y1404H	probably damaging	Het
Dot1l	A	G	10: 80,771,199 (GRCm38)	H109R	possibly damaging	Het
E330034G19Rik	A	C	14: 24,309,508 (GRCm38)	H329P	unknown	Het
Erbb4	A	T	1: 68,075,468 (GRCm38)	L939Q	probably damaging	Het
Fst	A	T	13: 114,455,828 (GRCm38)	C118S	probably damaging	Het
Gfra3	A	G	18: 34,711,136 (GRCm38)	V117A	possibly damaging	Het
Gldc	C	G	19: 30,100,812 (GRCm38)	M928I	probably benign	Het
Gm5538	A	T	3: 59,747,323 (GRCm38)	T193S	probably benign	Het
Gm996	T	G	2: 25,577,250 (GRCm38)	D883A		Het
Greb1	A	G	12: 16,688,519 (GRCm38)	M1481T	probably benign	Het
Hecw2	G	A	1: 53,891,146 (GRCm38)	R1045C	probably damaging	Het
Hexb	C	T	13: 97,194,254 (GRCm38)	V84I	probably benign	Het
Hpse	T	C	5: 100,695,586 (GRCm38)	E240G	probably benign	Het
Hspa12a	T	C	19: 58,805,463 (GRCm38)	D322G	possibly damaging	Het
Hspa9	A	T	18: 34,948,104 (GRCm38)		probably null	Het
Kif9	A	G	9: 110,524,930 (GRCm38)	K790R	probably damaging	Het
Klc2	C	T	19: 5,110,366 (GRCm38)		probably null	Het
Ldha	C	G	7: 46,850,278 (GRCm38)	N144K	probably benign	Het
Micalcl	A	G	7: 112,381,196 (GRCm38)	T126A	probably benign	Het
Mrpl15	A	T	1: 4,782,584 (GRCm38)	V137D	probably damaging	Het
Muc16	G	A	9: 18,646,069 (GRCm38)	T2976I	unknown	Het
Mybpc2	A	T	7: 44,512,541 (GRCm38)	V495D	probably damaging	Het
Olfr597	A	G	7: 103,321,005 (GRCm38)	K198R		Het
Olfr713	A	G	7: 107,036,682 (GRCm38)	N176D	probably benign	Het
Olfr772	A	T	10: 129,174,846 (GRCm38)	Y58*	probably null	Het
Pcnt	G	A	10: 76,382,174 (GRCm38)	T2089I	probably benign	Het
Pdzd7	T	C	19: 45,033,073 (GRCm38)	D563G	probably damaging	Het
Phlpp1	T	G	1: 106,350,603 (GRCm38)	L915R	probably damaging	Het
Plekhh2	T	A	17: 84,521,803 (GRCm38)	I34N	probably damaging	Het
Pou6f2	T	A	13: 18,378,498 (GRCm38)	T84S		Het
Ptprq	A	G	10: 107,586,695 (GRCm38)	V1612A	possibly damaging	Het
Pvrig	T	G	5: 138,342,148 (GRCm38)		probably benign	Het
Rasl10b	A	T	11: 83,412,676 (GRCm38)	I20F	probably damaging	Het
Rimbp3	T	A	16: 17,209,006 (GRCm38)	V98E	probably damaging	Het
Rims2	T	C	15: 39,437,362 (GRCm38)	I355T	possibly damaging	Het
Slc1a2	A	G	2: 102,736,015 (GRCm38)	H30R	probably benign	Het
Slc28a1	G	A	7: 81,161,046 (GRCm38)	V389M	possibly damaging	Het
Sp140	TTTTTTTT	TTTTTTTTTTTTT	1: 85,644,574 (GRCm38)		probably benign	Het
Spag17	T	A	3: 100,125,435 (GRCm38)	H2320Q	possibly damaging	Het
Speer4a	T	C	5: 26,036,795 (GRCm38)	E111G	possibly damaging	Het
Ss18l1	T	C	2: 180,067,338 (GRCm38)	Y397H	unknown	Het
Tbck	T	C	3: 132,838,057 (GRCm38)	S890P	probably damaging	Het
Tcp11	T	C	17: 28,080,230 (GRCm38)	E17G	probably benign	Het
Tesk2	C	T	4: 116,802,287 (GRCm38)	R315C	probably benign	Het
Tln1	T	C	4: 43,556,383 (GRCm38)	N45S	probably benign	Het
Trim10	C	T	17: 36,869,954 (GRCm38)	P26S	probably damaging	Het
Vmac	C	A	17: 56,715,573 (GRCm38)	G146C	probably damaging	Het
Vmn1r14	G	A	6: 57,234,032 (GRCm38)	M198I	probably damaging	Het
Vmn1r194	T	C	13: 22,244,836 (GRCm38)	Y208H	possibly damaging	Het
Vmn1r78	G	A	7: 12,153,191 (GRCm38)	C243Y	probably damaging	Het
Wasf3	C	T	5: 146,466,862 (GRCm38)	Q261*	probably null	Het
Ybx2	A	G	11: 69,936,237 (GRCm38)	K88R	probably benign	Het
Zfhx4	G	A	3: 5,398,889 (GRCm38)	R1394H	probably damaging	Het
Zfp871	T	C	17: 32,774,927 (GRCm38)	T425A	probably benign	Het
Zfy2	C	T	Y: 2,106,600 (GRCm38)	S678N	possibly damaging	Het
Zswim4	T	C	8: 84,223,316 (GRCm38)	E650G	possibly damaging	Het

Other mutations in Slc7a13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01769:Slc7a13	APN	4	19,839,527 (GRCm38)	missense	probably benign	0.00
IGL02491:Slc7a13	APN	4	19,841,404 (GRCm38)	missense	probably damaging	0.98
IGL02541:Slc7a13	APN	4	19,839,212 (GRCm38)	splice site	probably benign
IGL02814:Slc7a13	APN	4	19,839,387 (GRCm38)	missense	probably benign
R0145:Slc7a13	UTSW	4	19,818,782 (GRCm38)	start gained	probably benign
R0305:Slc7a13	UTSW	4	19,839,401 (GRCm38)	missense	probably benign	0.12
R0468:Slc7a13	UTSW	4	19,841,500 (GRCm38)	missense	probably benign	0.04
R0522:Slc7a13	UTSW	4	19,824,010 (GRCm38)	missense	probably benign	0.02
R0848:Slc7a13	UTSW	4	19,818,866 (GRCm38)	missense	probably benign	0.00
R1240:Slc7a13	UTSW	4	19,819,212 (GRCm38)	missense	probably damaging	1.00
R1623:Slc7a13	UTSW	4	19,824,031 (GRCm38)	missense	possibly damaging	0.84
R1830:Slc7a13	UTSW	4	19,819,046 (GRCm38)	missense	probably benign	0.33
R1903:Slc7a13	UTSW	4	19,839,254 (GRCm38)	missense	probably benign	0.01
R1952:Slc7a13	UTSW	4	19,841,578 (GRCm38)	missense	probably benign
R2229:Slc7a13	UTSW	4	19,839,399 (GRCm38)	missense	probably benign	0.43
R2887:Slc7a13	UTSW	4	19,819,052 (GRCm38)	missense	possibly damaging	0.69
R4175:Slc7a13	UTSW	4	19,819,492 (GRCm38)	missense	probably null	0.99
R4233:Slc7a13	UTSW	4	19,819,070 (GRCm38)	missense	probably damaging	0.97
R4764:Slc7a13	UTSW	4	19,819,390 (GRCm38)	missense	probably benign	0.08
R4941:Slc7a13	UTSW	4	19,841,467 (GRCm38)	missense	probably damaging	1.00
R5355:Slc7a13	UTSW	4	19,839,267 (GRCm38)	missense	probably benign	0.43
R6221:Slc7a13	UTSW	4	19,839,305 (GRCm38)	missense	probably benign	0.00
R6641:Slc7a13	UTSW	4	19,839,534 (GRCm38)	missense	probably damaging	1.00
R7237:Slc7a13	UTSW	4	19,839,364 (GRCm38)	missense	probably benign
R8188:Slc7a13	UTSW	4	19,819,082 (GRCm38)	missense	probably benign	0.03
R8384:Slc7a13	UTSW	4	19,823,984 (GRCm38)	missense	probably damaging	1.00
R8753:Slc7a13	UTSW	4	19,841,443 (GRCm38)	missense	probably damaging	0.99
R9140:Slc7a13	UTSW	4	19,819,487 (GRCm38)	missense	possibly damaging	0.72
R9663:Slc7a13	UTSW	4	19,818,818 (GRCm38)	missense	possibly damaging	0.84
R9764:Slc7a13	UTSW	4	19,819,033 (GRCm38)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- GCTCTGCAGAGATCGGGATAAC -3'
(R):5'- GCATCAAACGCATTCTGAAGC -3'

Sequencing Primer
(F):5'- TGCAGAGATCGGGATAACCTTCC -3'
(R):5'- CAAACGCATTCTGAAGCCTTTG -3'

Posted On

2021-07-15