Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02491:Slc7a13'

295648

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02491

Quality Score

Status

Chromosome

Chromosomal Location

19818727-19842213 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19841404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 417 (V417D)

Ref Sequence

ENSEMBL: ENSMUSP00000036228 (fasta)

Gene Model

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

AlphaFold

Q91WN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000035890
AA Change: V417D

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000036228
Gene: ENSMUSG00000041052
AA Change: V417D

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,067,794 (GRCm39)		probably benign	Het
Acacb	T	A	5: 114,330,166 (GRCm39)	I443N	probably damaging	Het
C1qtnf3	A	T	15: 10,972,067 (GRCm39)	I118F	possibly damaging	Het
Carmil3	C	T	14: 55,741,974 (GRCm39)	A1148V	probably benign	Het
Ccdc62	A	T	5: 124,099,378 (GRCm39)	S677C	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Col11a2	C	A	17: 34,283,181 (GRCm39)		probably benign	Het
Cpsf7	A	G	19: 10,517,001 (GRCm39)	I368V	possibly damaging	Het
Csmd2	T	C	4: 128,428,050 (GRCm39)	S2934P	probably benign	Het
Csmd3	A	G	15: 47,777,511 (GRCm39)		probably benign	Het
Cubn	A	G	2: 13,326,039 (GRCm39)	Y2709H	probably damaging	Het
Cyp2d12	T	A	15: 82,442,682 (GRCm39)	L375Q	possibly damaging	Het
Etv4	A	T	11: 101,674,791 (GRCm39)		probably null	Het
Exph5	T	A	9: 53,286,343 (GRCm39)	D1141E	possibly damaging	Het
Fbxo16	T	A	14: 65,558,736 (GRCm39)	H298Q	probably benign	Het
Fbxw21	T	A	9: 108,972,887 (GRCm39)	Y349F	probably benign	Het
Foxs1	G	A	2: 152,774,721 (GRCm39)	R111C	probably damaging	Het
Galnt15	T	A	14: 31,778,273 (GRCm39)	L436Q	probably damaging	Het
Gbf1	T	C	19: 46,250,979 (GRCm39)		probably benign	Het
Gm8237	A	T	14: 5,863,577 (GRCm38)	C29*	probably null	Het
Hcn1	A	G	13: 117,946,576 (GRCm39)	D317G	unknown	Het
Itgam	A	G	7: 127,715,190 (GRCm39)	N877D	possibly damaging	Het
Kcnma1	T	C	14: 23,361,757 (GRCm39)	R1047G	probably damaging	Het
Klhdc3	T	C	17: 46,988,226 (GRCm39)	R180G	possibly damaging	Het
Lpcat2	T	C	8: 93,600,879 (GRCm39)	V241A	probably damaging	Het
Mnat1	A	G	12: 73,170,682 (GRCm39)	N24S	probably null	Het
Mprip	A	G	11: 59,660,857 (GRCm39)	T967A	probably benign	Het
Mtf1	T	C	4: 124,732,372 (GRCm39)	F477L	probably benign	Het
Naaladl1	A	G	19: 6,159,748 (GRCm39)	E393G	possibly damaging	Het
Or10ak7	A	T	4: 118,791,358 (GRCm39)	L229H	probably damaging	Het
Or2at1	A	G	7: 99,416,540 (GRCm39)	E57G	possibly damaging	Het
Or5e1	A	G	7: 108,354,321 (GRCm39)	K86R	probably damaging	Het
Pcdhb6	A	T	18: 37,468,735 (GRCm39)	D552V	probably damaging	Het
Pglyrp3	C	T	3: 91,921,944 (GRCm39)	S4F	possibly damaging	Het
Pramel13	A	T	4: 144,121,322 (GRCm39)	M234K	probably damaging	Het
Prss27	A	T	17: 24,263,229 (GRCm39)		probably benign	Het
Slc5a9	A	G	4: 111,753,549 (GRCm39)	S51P	probably damaging	Het
Slc6a4	A	G	11: 76,918,034 (GRCm39)	Y592C	probably damaging	Het
Spring1	T	C	5: 118,397,160 (GRCm39)	Y130H	probably benign	Het
Syne2	A	G	12: 76,118,953 (GRCm39)	T5857A	probably benign	Het
Thap1	A	C	8: 26,650,885 (GRCm39)	S52R	probably damaging	Het
Thsd4	T	C	9: 59,907,301 (GRCm39)	N158S	probably damaging	Het
Tmem147	A	T	7: 30,427,626 (GRCm39)		probably benign	Het
Trdmt1	G	A	2: 13,521,483 (GRCm39)	A311V	probably benign	Het
U2surp	T	A	9: 95,372,273 (GRCm39)	R296S	probably damaging	Het
Upf2	A	G	2: 6,030,975 (GRCm39)	D805G	unknown	Het
Usp34	T	A	11: 23,382,630 (GRCm39)	H2057Q	probably damaging	Het
Vmn2r110	T	A	17: 20,816,400 (GRCm39)	D41V	probably damaging	Het
Vmn2r16	T	A	5: 109,487,703 (GRCm39)	L192*	probably null	Het
Vnn3	T	A	10: 23,741,816 (GRCm39)	S374T	probably benign	Het
Wdr62	A	C	7: 29,942,184 (GRCm39)	D1089E	probably benign	Het
Xdh	T	A	17: 74,193,459 (GRCm39)	D1279V	probably damaging	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zfp518b	A	G	5: 38,831,123 (GRCm39)	I294T	possibly damaging	Het
Zfp983	G	A	17: 21,876,528 (GRCm39)		probably null	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
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
R0305:Slc7a13	UTSW	4	19,839,401 (GRCm39)	missense	probably benign	0.12
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

Posted On

2015-04-16