Mutagenetix > Incidental Mutation

Incidental Mutation 'R8369:Slc7a6'

646302

Institutional Source

Beutler Lab

Gene Symbol

Slc7a6

Ensembl Gene

ENSMUSG00000031904

Gene Name

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

Synonyms

LAT-2

MMRRC Submission

067739-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.449) question?

Stock #

R8369 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106895489-106925338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106919796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 270 (A270T)

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: A270T

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

SMART Domains

Protein: ENSMUSP00000034378
Gene: ENSMUSG00000031904
AA Change: A270T

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 damaging
Transcript: ENSMUST00000212421
AA Change: A62T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	G	A	16: 90,852,657 (GRCm39)	H160Y	probably benign	Het
Abcc4	T	G	14: 118,864,869 (GRCm39)	I386L	probably benign	Het
Arap2	G	A	5: 62,761,669 (GRCm39)	R1686*	probably null	Het
Arfgef3	A	T	10: 18,465,477 (GRCm39)	I2122N	probably benign	Het
Arhgap44	A	T	11: 64,950,680 (GRCm39)	D119E	probably damaging	Het
Atp2b2	C	T	6: 113,790,747 (GRCm39)		probably null	Het
Bltp1	T	A	3: 37,065,752 (GRCm39)	L9M		Het
Brinp1	A	T	4: 68,716,936 (GRCm39)	L304Q	possibly damaging	Het
C2cd3	T	C	7: 100,044,465 (GRCm39)	V349A	probably benign	Het
Ccdc93	T	C	1: 121,405,597 (GRCm39)	Y347H	probably damaging	Het
Ccdc93	T	G	1: 121,422,126 (GRCm39)	I534S	probably benign	Het
Cyb5r4	A	T	9: 86,922,486 (GRCm39)	D165V	probably benign	Het
Cygb	G	A	11: 116,540,109 (GRCm39)	T180I	probably benign	Het
Cyp4f15	T	A	17: 32,916,939 (GRCm39)	S285R	probably benign	Het
Daxx	G	T	17: 34,131,590 (GRCm39)	C433F	probably damaging	Het
Dcaf6	T	C	1: 165,185,043 (GRCm39)	E483G	probably damaging	Het
Dennd1a	T	A	2: 37,938,766 (GRCm39)	I115F	probably damaging	Het
Dnajc5b	A	G	3: 19,664,796 (GRCm39)	D198G	probably damaging	Het
Ercc1	T	A	7: 19,088,377 (GRCm39)	C243*	probably null	Het
Ermard	T	C	17: 15,273,560 (GRCm39)	F382L	probably damaging	Het
Fer1l4	C	A	2: 155,861,680 (GRCm39)	G1879V	probably benign	Het
Focad	T	A	4: 88,150,905 (GRCm39)	H516Q	unknown	Het
Gcsam	T	A	16: 45,436,369 (GRCm39)	W51R	probably damaging	Het
Ikbkb	A	G	8: 23,181,097 (GRCm39)	V122A	probably benign	Het
Iqgap2	A	T	13: 95,798,111 (GRCm39)	S1065T	probably damaging	Het
Kif16b	G	A	2: 142,553,777 (GRCm39)	A1007V	probably benign	Het
Krt24	A	T	11: 99,173,534 (GRCm39)	C262*	probably null	Het
Lrat	T	C	3: 82,810,865 (GRCm39)	E52G	probably damaging	Het
Misp3	T	A	8: 84,737,627 (GRCm39)	H94L	unknown	Het
N4bp3	A	G	11: 51,535,253 (GRCm39)	L312P	probably damaging	Het
Naxe	T	C	3: 87,963,994 (GRCm39)	T246A	probably benign	Het
Pcolce2	A	T	9: 95,519,847 (GRCm39)	M1L	probably benign	Het
Sord	T	A	2: 122,076,976 (GRCm39)	I27K	probably benign	Het
Srek1ip1	A	G	13: 104,970,798 (GRCm39)	E83G	probably benign	Het
Srgap3	A	C	6: 112,699,779 (GRCm39)	N1090K	probably benign	Het
Sult2a6	A	C	7: 13,987,327 (GRCm39)		probably null	Het
Tacc2	T	A	7: 130,223,888 (GRCm39)	I191N	probably damaging	Het
Thoc3	A	G	13: 54,615,708 (GRCm39)	S119P	probably damaging	Het
Tirap	A	G	9: 35,100,052 (GRCm39)	S211P	probably benign	Het
Tle4	T	C	19: 14,429,876 (GRCm39)	T632A	probably benign	Het
Tnfaip8l2	T	A	3: 95,047,486 (GRCm39)	I126F	probably benign	Het
Txnrd1	A	G	10: 82,710,480 (GRCm39)	T114A	probably benign	Het
Vmn2r14	A	G	5: 109,369,342 (GRCm39)	L77P	probably damaging	Het
Wwc1	G	A	11: 35,758,198 (GRCm39)	T716I	probably damaging	Het
Yod1	A	G	1: 130,645,360 (GRCm39)	K47R	probably benign	Het
Zfhx2	A	T	14: 55,304,201 (GRCm39)	M1261K	probably benign	Het
Zfhx3	T	C	8: 109,583,448 (GRCm39)	I1105T	possibly damaging	Het
Zfp9	C	A	6: 118,441,353 (GRCm39)	K436N	probably damaging	Het
Zfp979	T	C	4: 147,697,548 (GRCm39)	H387R	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATCGTGAGTCCCTTCTCAGG -3'
(R):5'- TTACACCATTTGGGAACAGGGG -3'

Sequencing Primer
(F):5'- CTTTCTCAGTGGAAAATGCCCAGG -3'
(R):5'- CCATTTGGGAACAGGGGCAAATG -3'

Posted On

2020-09-02