Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02201:Slc7a15'

284194

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc7a15

Ensembl Gene

ENSMUSG00000020600

Gene Name

solute carrier family 7 (cationic amino acid transporter, y+ system), member 15

Synonyms

Arpat, 9030221C07Rik, 2010001P20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

IGL02201

Quality Score

Status

Chromosome

Chromosomal Location

8578483-8649066 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8589023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 175 (S175P)

Ref Sequence

ENSEMBL: ENSMUSP00000093548 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036938] [ENSMUST00000095863] [ENSMUST00000165657]

AlphaFold

Q50E62

Predicted Effect

probably benign
Transcript: ENSMUST00000036938

SMART Domains

Protein: ENSMUSP00000047873
Gene: ENSMUSG00000020600

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	1	197	2.6e-20	PFAM
Pfam:AA_permease	1	221	1.5e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095863
AA Change: S175P

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000093548
Gene: ENSMUSG00000020600
AA Change: S175P

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	31	453	2.6e-57	PFAM
Pfam:AA_permease	35	480	2.2e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129465

Predicted Effect

probably benign
Transcript: ENSMUST00000165657

SMART Domains

Protein: ENSMUSP00000129806
Gene: ENSMUSG00000020600

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	1	197	2.6e-20	PFAM
Pfam:AA_permease	1	221	1.5e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219595

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	G	A	1: 78,676,870 (GRCm39)	G484R	probably damaging	Het
Adgrb3	A	G	1: 25,459,631 (GRCm39)		probably benign	Het
Akr1c14	A	G	13: 4,131,022 (GRCm39)	D238G	probably damaging	Het
Ccdc88b	T	A	19: 6,823,999 (GRCm39)	D1418V	probably damaging	Het
Cnnm4	A	T	1: 36,511,831 (GRCm39)	K353M	probably damaging	Het
Col6a6	A	G	9: 105,658,194 (GRCm39)	F673L	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dyrk1a	A	G	16: 94,493,008 (GRCm39)	E747G	probably benign	Het
Eml5	T	A	12: 98,760,683 (GRCm39)		probably benign	Het
Ercc6l2	A	G	13: 64,000,783 (GRCm39)	N516D	probably benign	Het
Fbxl17	A	G	17: 63,806,024 (GRCm39)	L330P	probably damaging	Het
Fgr	A	T	4: 132,722,235 (GRCm39)	Y168F	probably damaging	Het
Frem2	T	G	3: 53,427,061 (GRCm39)	K2962N	probably benign	Het
Hdac4	G	T	1: 91,915,382 (GRCm39)		probably null	Het
Il1r1	A	T	1: 40,352,428 (GRCm39)	N533Y	probably damaging	Het
Kcnab2	T	C	4: 152,486,375 (GRCm39)		probably benign	Het
Knl1	C	T	2: 118,899,633 (GRCm39)	P445S	probably benign	Het
Lamb2	G	A	9: 108,364,741 (GRCm39)	C1165Y	probably damaging	Het
Nisch	C	T	14: 30,909,051 (GRCm39)		probably benign	Het
Or1i2	C	T	10: 78,448,104 (GRCm39)	V124M	probably damaging	Het
Or2m12	A	T	16: 19,105,212 (GRCm39)	S94T	probably benign	Het
Or8b40	A	G	9: 38,027,893 (GRCm39)	D267G	probably benign	Het
Or8h7	A	G	2: 86,721,420 (GRCm39)	L33P	probably damaging	Het
Pde3b	T	A	7: 114,133,843 (GRCm39)	M953K	probably damaging	Het
Pdzph1	A	G	17: 59,274,506 (GRCm39)		probably benign	Het
Plce1	T	C	19: 38,757,890 (GRCm39)		probably benign	Het
Prr23a3	G	T	9: 98,747,297 (GRCm39)	V84L	possibly damaging	Het
Psg26	A	G	7: 18,214,071 (GRCm39)	V197A	probably benign	Het
Ptpra	T	A	2: 30,336,389 (GRCm39)	C80S	possibly damaging	Het
Ripk4	A	T	16: 97,556,377 (GRCm39)	V122E	possibly damaging	Het
Scd2	A	G	19: 44,289,779 (GRCm39)	N258S	probably damaging	Het
Slc38a1	A	T	15: 96,476,679 (GRCm39)	V394E	probably damaging	Het
Tacc2	T	A	7: 130,227,942 (GRCm39)	D1542E	possibly damaging	Het
Trim67	G	T	8: 125,520,797 (GRCm39)	R53L	probably benign	Het
Urah	A	T	7: 140,415,576 (GRCm39)	T38S	probably damaging	Het
Vps13c	A	G	9: 67,874,418 (GRCm39)	S3362G	probably damaging	Het
Wwc1	T	C	11: 35,734,978 (GRCm39)		probably benign	Het
Zfyve28	T	C	5: 34,400,549 (GRCm39)	T50A	probably damaging	Het

Other mutations in Slc7a15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00310:Slc7a15	APN	12	8,589,121 (GRCm39)	missense	probably damaging	1.00
IGL00507:Slc7a15	APN	12	8,585,474 (GRCm39)	missense	probably damaging	1.00
IGL01839:Slc7a15	APN	12	8,589,365 (GRCm39)	missense	probably damaging	1.00
IGL02006:Slc7a15	APN	12	8,585,508 (GRCm39)	critical splice acceptor site	probably null
R0422:Slc7a15	UTSW	12	8,584,400 (GRCm39)	missense	probably benign	0.17
R0794:Slc7a15	UTSW	12	8,589,278 (GRCm39)	missense	probably benign	0.19
R1194:Slc7a15	UTSW	12	8,585,772 (GRCm39)	missense	probably damaging	1.00
R1420:Slc7a15	UTSW	12	8,584,442 (GRCm39)	missense	probably benign	0.01
R2696:Slc7a15	UTSW	12	8,579,345 (GRCm39)	makesense	probably null
R4809:Slc7a15	UTSW	12	8,589,002 (GRCm39)	missense	probably benign	0.10
R5236:Slc7a15	UTSW	12	8,589,005 (GRCm39)	missense	probably benign	0.38
R5579:Slc7a15	UTSW	12	8,589,344 (GRCm39)	missense	probably benign	0.00
R6453:Slc7a15	UTSW	12	8,584,490 (GRCm39)	missense	possibly damaging	0.77
R7136:Slc7a15	UTSW	12	8,588,895 (GRCm39)	missense	probably damaging	0.98
R8005:Slc7a15	UTSW	12	8,589,395 (GRCm39)	missense	probably damaging	0.97
R8910:Slc7a15	UTSW	12	8,589,117 (GRCm39)	start gained	probably benign
R9474:Slc7a15	UTSW	12	8,588,794 (GRCm39)	missense	probably damaging	0.99
R9786:Slc7a15	UTSW	12	8,580,280 (GRCm39)	missense	probably benign	0.31
X0027:Slc7a15	UTSW	12	8,589,350 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16