Mutagenetix > Incidental Mutation

Incidental Mutation 'R8188:Slc7a13'

634960

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

067611-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8188 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19818727-19842213 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19819082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 94 (V94A)

Ref Sequence

ENSEMBL: ENSMUSP00000036228 (fasta)

Gene Model

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

AlphaFold

Q91WN3

Predicted Effect

probably benign
Transcript: ENSMUST00000035890
AA Change: V94A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000036228
Gene: ENSMUSG00000041052
AA Change: V94A

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: 98.6%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	C	G	4: 40,180,284 (GRCm39)	A395G	probably benign	Het
Adgrf5	G	A	17: 43,741,503 (GRCm39)	C380Y	probably damaging	Het
Astn2	T	C	4: 65,977,418 (GRCm39)	T422A	unknown	Het
Baz1b	G	T	5: 135,233,916 (GRCm39)	V148F	probably benign	Het
Bicd1	A	C	6: 149,451,854 (GRCm39)	S823R	probably damaging	Het
Bltp3b	C	T	10: 89,647,928 (GRCm39)	T1330M	possibly damaging	Het
Blvra	A	C	2: 126,937,047 (GRCm39)	S167R	probably damaging	Het
Camsap2	G	T	1: 136,225,132 (GRCm39)		probably null	Het
Card14	T	C	11: 119,228,623 (GRCm39)	S650P	probably damaging	Het
Ccdc121rt2	A	G	5: 112,597,993 (GRCm39)	D180G	possibly damaging	Het
Cdh2	A	G	18: 16,781,593 (GRCm39)	I166T	probably damaging	Het
Cdnf	T	C	2: 3,514,228 (GRCm39)	V22A	probably benign	Het
Cfhr4	T	A	1: 139,625,868 (GRCm39)	I869F	probably damaging	Het
Chd2	T	A	7: 73,079,504 (GRCm39)	K1799*	probably null	Het
Col20a1	G	A	2: 180,658,126 (GRCm39)		probably null	Het
Cyp4a31	T	C	4: 115,426,943 (GRCm39)	I182T	probably benign	Het
Dap3	A	T	3: 88,843,543 (GRCm39)	F25L	probably benign	Het
Dcc	T	A	18: 71,943,928 (GRCm39)	Y241F	probably benign	Het
Ddx46	A	G	13: 55,814,029 (GRCm39)	I662V	possibly damaging	Het
Dzip3	T	C	16: 48,772,499 (GRCm39)	D390G	probably damaging	Het
Eif1	A	G	11: 100,211,624 (GRCm39)	D55G	probably benign	Het
Exosc5	T	A	7: 25,358,790 (GRCm39)	S44T	probably damaging	Het
Fat2	A	G	11: 55,163,997 (GRCm39)	V3086A	probably damaging	Het
Fcamr	T	A	1: 130,730,665 (GRCm39)		probably null	Het
Gcg	T	C	2: 62,309,004 (GRCm39)	D50G	probably damaging	Het
Gm7298	A	G	6: 121,763,537 (GRCm39)		probably null	Het
Hfe	A	G	13: 23,892,175 (GRCm39)	V63A	probably damaging	Het
Hoxd11	T	A	2: 74,514,298 (GRCm39)	I276N	probably damaging	Het
Htt	T	C	5: 34,919,287 (GRCm39)	S13P	probably benign	Het
Il12a	T	A	3: 68,598,872 (GRCm39)	C18S	unknown	Het
Itk	G	T	11: 46,222,776 (GRCm39)	Y564*	probably null	Het
Lrrc46	A	T	11: 96,931,705 (GRCm39)	L39Q	probably damaging	Het
Myom3	T	A	4: 135,507,231 (GRCm39)	L537Q	probably damaging	Het
Nrap	A	C	19: 56,325,010 (GRCm39)	Y1234*	probably null	Het
Or51q1	T	C	7: 103,628,743 (GRCm39)	S121P	probably damaging	Het
Or8b9	A	T	9: 37,766,407 (GRCm39)	M98L	probably benign	Het
Parn	T	C	16: 13,359,020 (GRCm39)	D574G	probably benign	Het
Pbrm1	A	G	14: 30,789,773 (GRCm39)	I807V	probably damaging	Het
Pclo	T	A	5: 14,725,193 (GRCm39)	S1350R	unknown	Het
Pira13	T	C	7: 3,826,126 (GRCm39)	H289R	unknown	Het
Plaa	T	C	4: 94,474,586 (GRCm39)	Q272R	probably damaging	Het
Rfx6	T	A	10: 51,594,292 (GRCm39)	I174N	probably benign	Het
Ripk2	T	A	4: 16,139,218 (GRCm39)	K226N	probably damaging	Het
Scgb1b2	T	C	7: 30,990,946 (GRCm39)	D54G	possibly damaging	Het
Slc45a4	T	C	15: 73,456,383 (GRCm39)	Y599C	probably benign	Het
Slc7a8	A	G	14: 54,972,579 (GRCm39)	F281L	probably benign	Het
Slco4c1	T	A	1: 96,772,261 (GRCm39)	T243S	probably damaging	Het
Smim30	C	T	6: 13,870,541 (GRCm39)	G57E	probably damaging	Het
Stat5b	A	G	11: 100,692,262 (GRCm39)	I174T	probably damaging	Het
Styk1	C	A	6: 131,281,848 (GRCm39)	V257L	probably benign	Het
Tmem268	T	C	4: 63,498,209 (GRCm39)	F210L	probably damaging	Het
Ugt2b35	T	A	5: 87,149,302 (GRCm39)	S184R	probably damaging	Het
Vps50	T	A	6: 3,562,297 (GRCm39)	L464*	probably null	Het
Zfhx2	A	T	14: 55,301,898 (GRCm39)	S2029T	probably benign	Het
Zfp235	T	A	7: 23,841,296 (GRCm39)	F572I	probably damaging	Het
Zfp280d	T	C	9: 72,267,615 (GRCm39)	I766T	probably benign	Het
Zfr	T	G	15: 12,171,904 (GRCm39)	C933W	probably damaging	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
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
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'- TGCAGGAATATTTGTGTCCCC -3'
(R):5'- TGTCTGAAGCCATGACAGCTC -3'

Sequencing Primer
(F):5'- CAGGAATATTTGTGTCCCCCAAGG -3'
(R):5'- GAAGCCATGACAGCTCTTTTAC -3'

Posted On

2020-07-13