Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00771:Slc7a6'

14124

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc7a6

Ensembl Gene

ENSMUSG00000031904

Gene Name

solute carrier family 7 (cationic amino acid transporter, y+ system), member 6

Synonyms

LAT-2

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.349) question?

Stock #

IGL00771

Quality Score

Status

Chromosome

Chromosomal Location

106895489-106925338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106905872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 35 (S35P)

Ref Sequence

ENSEMBL: ENSMUSP00000148693 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034378] [ENSMUST00000211824] [ENSMUST00000212377] [ENSMUST00000212421] [ENSMUST00000212802]

AlphaFold

Q8BGK6

Predicted Effect

probably benign
Transcript: ENSMUST00000034378
AA Change: S35P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034378
Gene: ENSMUSG00000031904
AA Change: S35P

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	45	467	1.2e-66	PFAM
Pfam:AA_permease	50	471	2.1e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211824
AA Change: S35P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000212377
AA Change: S35P

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000212421

Predicted Effect

probably benign
Transcript: ENSMUST00000212802
AA Change: S35P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212837

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213020

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	G	17: 48,452,855 (GRCm39)	L28S	possibly damaging	Het
Abca13	T	A	11: 9,240,870 (GRCm39)	L911Q	probably damaging	Het
Armc9	C	A	1: 86,127,557 (GRCm39)		probably null	Het
Asxl2	A	G	12: 3,524,560 (GRCm39)	H196R	probably damaging	Het
Atm	T	C	9: 53,404,354 (GRCm39)	D1329G	probably benign	Het
Cds2	T	C	2: 132,146,272 (GRCm39)		probably benign	Het
Cep295	A	T	9: 15,233,861 (GRCm39)	C2184S	probably damaging	Het
Cpeb2	T	C	5: 43,394,890 (GRCm39)	F623L	possibly damaging	Het
Dmd	G	A	X: 82,951,978 (GRCm39)		probably null	Het
F11r	T	A	1: 171,290,510 (GRCm39)		probably null	Het
Gbp3	C	T	3: 142,271,005 (GRCm39)		probably benign	Het
Gpc4	A	G	X: 51,163,527 (GRCm39)	S119P	possibly damaging	Het
H2-M10.2	A	G	17: 36,597,288 (GRCm39)	L9P	probably damaging	Het
Ica1l	T	C	1: 60,053,106 (GRCm39)	D144G	probably damaging	Het
Jaml	A	G	9: 45,005,105 (GRCm39)	K124E	possibly damaging	Het
Lamc2	T	C	1: 153,005,802 (GRCm39)	N950S	probably benign	Het
Ltbp1	A	T	17: 75,669,511 (GRCm39)	D1099V	probably damaging	Het
Mlxipl	C	T	5: 135,161,632 (GRCm39)	T517I	probably damaging	Het
Nbeal1	C	T	1: 60,274,512 (GRCm39)	R308C	probably benign	Het
Nlrp1a	A	T	11: 71,013,567 (GRCm39)	L561*	probably null	Het
Prom1	A	T	5: 44,187,118 (GRCm39)		probably benign	Het
Ptprc	T	A	1: 138,041,415 (GRCm39)	E148V	probably benign	Het
Rap1gap	T	C	4: 137,443,835 (GRCm39)	V224A	probably damaging	Het
Snx17	C	T	5: 31,354,679 (GRCm39)	R314C	probably damaging	Het
Spats2l	T	C	1: 57,982,231 (GRCm39)	L371P	probably damaging	Het
Spsb1	C	T	4: 149,991,564 (GRCm39)	M1I	probably null	Het
Sv2a	G	A	3: 96,100,600 (GRCm39)	V661I	probably benign	Het
Taar7b	T	A	10: 23,876,096 (GRCm39)	V87E	probably benign	Het
Tcf7l2	G	A	19: 55,905,853 (GRCm39)	V292I	probably damaging	Het
Teddm1b	T	A	1: 153,750,340 (GRCm39)	C50S	possibly damaging	Het
Trmt10a	A	G	3: 137,856,216 (GRCm39)	D159G	probably benign	Het
Urod	T	C	4: 116,847,581 (GRCm39)	N336S	probably damaging	Het
Usp8	A	G	2: 126,567,353 (GRCm39)		probably null	Het
Zfp182	A	G	X: 20,896,896 (GRCm39)	Y467H	probably damaging	Het

Other mutations in Slc7a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01149:Slc7a6	APN	8	106,906,232 (GRCm39)	missense	probably damaging	0.96
IGL02232:Slc7a6	APN	8	106,923,206 (GRCm39)	missense	possibly damaging	0.87
IGL02972:Slc7a6	APN	8	106,906,059 (GRCm39)	missense	probably damaging	0.99
IGL03082:Slc7a6	APN	8	106,919,854 (GRCm39)	splice site	probably null
IGL03108:Slc7a6	APN	8	106,921,149 (GRCm39)	missense	probably damaging	0.99
R0062:Slc7a6	UTSW	8	106,916,264 (GRCm39)	missense	probably damaging	0.97
R0062:Slc7a6	UTSW	8	106,916,263 (GRCm39)	missense	possibly damaging	0.79
R0325:Slc7a6	UTSW	8	106,921,149 (GRCm39)	missense	probably damaging	0.99
R1803:Slc7a6	UTSW	8	106,919,088 (GRCm39)	missense	possibly damaging	0.70
R1928:Slc7a6	UTSW	8	106,920,120 (GRCm39)	unclassified	probably benign
R5912:Slc7a6	UTSW	8	106,906,289 (GRCm39)	missense	probably benign
R6317:Slc7a6	UTSW	8	106,919,099 (GRCm39)	missense	probably damaging	0.98
R6370:Slc7a6	UTSW	8	106,922,069 (GRCm39)	missense	probably benign	0.44
R7030:Slc7a6	UTSW	8	106,922,606 (GRCm39)	missense	possibly damaging	0.64
R7944:Slc7a6	UTSW	8	106,906,239 (GRCm39)	missense	possibly damaging	0.65
R7945:Slc7a6	UTSW	8	106,906,239 (GRCm39)	missense	possibly damaging	0.65
R8314:Slc7a6	UTSW	8	106,895,590 (GRCm39)	unclassified	probably benign
R8369:Slc7a6	UTSW	8	106,919,796 (GRCm39)	missense	probably damaging	0.99
R8397:Slc7a6	UTSW	8	106,920,165 (GRCm39)	missense	probably damaging	1.00
R8889:Slc7a6	UTSW	8	106,922,534 (GRCm39)	missense	probably damaging	1.00
R9109:Slc7a6	UTSW	8	106,922,534 (GRCm39)	missense	probably damaging	0.96
R9298:Slc7a6	UTSW	8	106,922,534 (GRCm39)	missense	probably damaging	0.96
RF008:Slc7a6	UTSW	8	106,922,030 (GRCm39)	missense	probably benign	0.13

Posted On

2012-12-06