Mutagenetix > Incidental Mutation

Incidental Mutation 'R5912:Slc7a6'

461063

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

044109-MU

Accession Numbers

Essential gene?

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

Stock #

R5912 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106895489-106925338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 106906289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 174 (V174L)

Ref Sequence

ENSEMBL: ENSMUSP00000148794 (fasta)

Gene Model

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

AlphaFold

Q8BGK6

Predicted Effect

probably benign
Transcript: ENSMUST00000034378
AA Change: V174L

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

SMART Domains

Protein: ENSMUSP00000034378
Gene: ENSMUSG00000031904
AA Change: V174L

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: V174L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212377

Predicted Effect

probably benign
Transcript: ENSMUST00000212421

Predicted Effect

probably benign
Transcript: ENSMUST00000212802
AA Change: V174L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212837

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213020

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	A	T	15: 84,839,897 (GRCm39)	C166S	possibly damaging	Het
Ahnak	T	A	19: 8,989,267 (GRCm39)	M3517K	probably damaging	Het
Asap2	T	C	12: 21,256,344 (GRCm39)	V214A	probably damaging	Het
Atp13a4	A	G	16: 29,275,389 (GRCm39)	V365A	probably benign	Het
Bivm	G	T	1: 44,165,573 (GRCm39)	G8*	probably null	Het
Cc2d2a	A	C	5: 43,877,772 (GRCm39)	D1043A	probably damaging	Het
Cdh2	A	C	18: 16,773,507 (GRCm39)	I331S	possibly damaging	Het
Clip3	A	C	7: 29,998,295 (GRCm39)	D247A	probably benign	Het
Csf3r	A	T	4: 125,923,753 (GRCm39)	I88F	probably damaging	Het
Cyp2j13	A	T	4: 95,945,079 (GRCm39)	N316K	probably damaging	Het
Dnah12	T	A	14: 26,491,965 (GRCm39)	C1133*	probably null	Het
Glud1	G	A	14: 34,033,300 (GRCm39)		probably null	Het
Gm5805	A	G	15: 81,857,018 (GRCm39)		noncoding transcript	Het
Gsg1l2	G	T	11: 67,665,540 (GRCm39)		probably null	Het
Ikzf1	C	A	11: 11,698,464 (GRCm39)	S105*	probably null	Het
Kif18b	A	G	11: 102,803,817 (GRCm39)	S448P	probably benign	Het
Klhl31	C	A	9: 77,563,012 (GRCm39)	N592K	probably damaging	Het
Kmt2c	A	G	5: 25,552,467 (GRCm39)	F1239L	possibly damaging	Het
Lama5	A	G	2: 179,837,268 (GRCm39)	Y1014H	probably damaging	Het
Macf1	A	C	4: 123,290,951 (GRCm39)	L3980R	probably damaging	Het
Magi1	A	T	6: 93,685,126 (GRCm39)	S524T	possibly damaging	Het
Nlrp4f	A	T	13: 65,342,722 (GRCm39)	Y308N	probably damaging	Het
Or1e33	A	C	11: 73,738,501 (GRCm39)	I150R	possibly damaging	Het
Or3a1c	A	T	11: 74,046,046 (GRCm39)	E22V	possibly damaging	Het
Rfx5	G	A	3: 94,866,029 (GRCm39)		probably benign	Het
Scn1b	C	T	7: 30,817,228 (GRCm39)	V165M	probably damaging	Het
Sema4c	A	C	1: 36,593,469 (GRCm39)	V41G	possibly damaging	Het
Serpini1	G	T	3: 75,523,914 (GRCm39)	G174V	probably benign	Het
Sh2b1	T	C	7: 126,070,642 (GRCm39)	E353G	probably damaging	Het
Smg1	A	T	7: 117,753,809 (GRCm39)		probably benign	Het
Spag9	A	G	11: 93,935,251 (GRCm39)	N21D	probably damaging	Het
Spdye4c	C	T	2: 128,437,994 (GRCm39)	R245*	probably null	Het
Sulf1	A	G	1: 12,856,976 (GRCm39)		probably benign	Het
Swt1	A	G	1: 151,287,160 (GRCm39)	S111P	probably damaging	Het
Syne2	G	A	12: 75,955,721 (GRCm39)		probably null	Het
Tanc1	T	C	2: 59,622,030 (GRCm39)	V383A	possibly damaging	Het
Tbc1d10b	G	T	7: 126,799,033 (GRCm39)	A491E	probably damaging	Het
Tek	A	G	4: 94,686,877 (GRCm39)	T132A	probably damaging	Het
Traf3	A	G	12: 111,221,783 (GRCm39)	I290V	probably benign	Het
Traf5	A	G	1: 191,730,030 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,640,687 (GRCm39)	I13687N	probably damaging	Het
Unc5c	A	G	3: 141,494,767 (GRCm39)	D415G	probably damaging	Het
Ust	A	G	10: 8,173,825 (GRCm39)	Y227H	probably benign	Het
Vmn2r100	A	G	17: 19,752,071 (GRCm39)	N705D	probably damaging	Het
Wnk2	T	C	13: 49,214,250 (GRCm39)	E1444G	probably damaging	Het
Ylpm1	C	T	12: 85,087,660 (GRCm39)	P1148L	probably damaging	Het
Zbtb5	A	G	4: 44,993,750 (GRCm39)	S545P	probably benign	Het
Zfp710	A	G	7: 79,731,222 (GRCm39)	D133G	probably benign	Het
Zfp866	A	T	8: 70,218,934 (GRCm39)	C229S	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- ATATTCTAGAGGCCTTCGGGG -3'
(R):5'- TAAGAGGAACCTAAGGCCCC -3'

Sequencing Primer
(F):5'- CCTTCGGGGGCTTCATTGC -3'
(R):5'- GAGCAGACTCAAACTCCTCTC -3'

Posted On

2017-02-28