Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03108:Slc7a6'

419062

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 #

IGL03108

Quality Score

Status

Chromosome

Chromosomal Location

106895489-106925338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106921149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 373 (N373K)

Ref Sequence

ENSEMBL: ENSMUSP00000034378 (fasta)

Gene Model

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

AlphaFold

Q8BGK6

Predicted Effect

probably damaging
Transcript: ENSMUST00000034378
AA Change: N373K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034378
Gene: ENSMUSG00000031904
AA Change: N373K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212377

Predicted Effect

probably benign
Transcript: ENSMUST00000212421

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	A	13: 81,707,648 (GRCm39)	V1253F	probably damaging	Het
Apbb2	A	G	5: 66,557,574 (GRCm39)	W296R	probably damaging	Het
Armh3	G	A	19: 45,808,792 (GRCm39)	T633I	probably damaging	Het
Btbd3	T	C	2: 138,126,043 (GRCm39)	V409A	possibly damaging	Het
C130050O18Rik	A	T	5: 139,400,820 (GRCm39)	D291V	probably damaging	Het
Catsper3	A	G	13: 55,955,848 (GRCm39)	N318D	probably benign	Het
Chd1	T	A	17: 15,945,543 (GRCm39)	D22E	possibly damaging	Het
Chrnb2	G	A	3: 89,670,681 (GRCm39)		probably benign	Het
Col24a1	G	A	3: 145,029,162 (GRCm39)	G550D	probably damaging	Het
Cryl1	T	C	14: 57,550,534 (GRCm39)	D110G	probably damaging	Het
Deaf1	A	G	7: 140,902,874 (GRCm39)	I150T	probably damaging	Het
Eif3a	A	T	19: 60,770,747 (GRCm39)	D33E	possibly damaging	Het
Fabp12	C	A	3: 10,315,114 (GRCm39)	G78C	probably benign	Het
Fat1	A	G	8: 45,476,651 (GRCm39)	D1899G	probably damaging	Het
Galnt13	G	A	2: 54,744,660 (GRCm39)	V120I	probably benign	Het
Ganab	G	A	19: 8,889,840 (GRCm39)	A635T	probably damaging	Het
Gm17509	G	A	13: 117,357,380 (GRCm39)		probably benign	Het
Gstm3	A	T	3: 107,875,080 (GRCm39)		probably null	Het
Hfm1	T	A	5: 107,043,800 (GRCm39)		probably benign	Het
Hoxd13	A	C	2: 74,500,440 (GRCm39)	D327A	probably damaging	Het
Ints4	G	T	7: 97,140,137 (GRCm39)		probably null	Het
Kcna10	A	T	3: 107,102,259 (GRCm39)	T297S	probably benign	Het
Ldb2	G	A	5: 44,699,057 (GRCm39)	T127I	probably damaging	Het
Mapk7	T	C	11: 61,382,498 (GRCm39)	D68G	probably damaging	Het
Msh3	A	T	13: 92,357,596 (GRCm39)		probably benign	Het
Muc6	A	G	7: 141,217,402 (GRCm39)	S2359P	possibly damaging	Het
Mup6	A	T	4: 60,005,990 (GRCm39)	I161F	possibly damaging	Het
Nup160	G	A	2: 90,534,169 (GRCm39)	V665I	probably benign	Het
Or13a22	A	G	7: 140,073,034 (GRCm39)	N161S	possibly damaging	Het
Or14a258	T	C	7: 86,034,929 (GRCm39)	Y313C	possibly damaging	Het
Or4e5	T	A	14: 52,727,533 (GRCm39)	D296V	probably damaging	Het
Otog	G	A	7: 45,900,762 (GRCm39)	V352I	probably damaging	Het
Oxct1	T	A	15: 4,064,764 (GRCm39)	V34D	probably benign	Het
Pcdhb21	T	A	18: 37,648,944 (GRCm39)		probably null	Het
Pcdhb8	T	G	18: 37,490,299 (GRCm39)	V659G	probably damaging	Het
Plxnb2	T	C	15: 89,042,234 (GRCm39)	N1590S	probably benign	Het
Rnf168	G	T	16: 32,097,099 (GRCm39)	R56L	possibly damaging	Het
Scn8a	C	T	15: 100,872,496 (GRCm39)	P362S	probably benign	Het
Slc1a3	T	A	15: 8,668,562 (GRCm39)	I468F	probably damaging	Het
Slc39a14	G	A	14: 70,556,368 (GRCm39)	R3W	probably damaging	Het
Snrnp200	T	C	2: 127,080,087 (GRCm39)	S1955P	possibly damaging	Het
Stat5a	T	A	11: 100,753,965 (GRCm39)	Y98*	probably null	Het
Thsd7b	G	T	1: 130,138,013 (GRCm39)	G1564C	probably damaging	Het
Zc3h13	T	C	14: 75,569,206 (GRCm39)	V1351A	possibly damaging	Het

Other mutations in Slc7a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Slc7a6	APN	8	106,905,872 (GRCm39)	missense	probably benign	0.01
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
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

2016-08-02