Mutagenetix > Incidental Mutation

Incidental Mutation 'R5471:Slc7a12'

433795

Institutional Source

Beutler Lab

Gene Symbol

Slc7a12

Ensembl Gene

ENSMUSG00000039710

Gene Name

solute carrier family 7 (cationic amino acid transporter, y+ system), member 12

Synonyms

XAT1, Asc-2, asc-type amino acid transporter 2

MMRRC Submission

043032-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R5471 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14545757-14570879 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 14545935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 27 (V27M)

Ref Sequence

ENSEMBL: ENSMUSP00000038574 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037321] [ENSMUST00000120484] [ENSMUST00000120801]

AlphaFold

Q8VIE6

Predicted Effect

probably damaging
Transcript: ENSMUST00000037321
AA Change: V27M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038574
Gene: ENSMUSG00000039710
AA Change: V27M

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	7	430	1.7e-54	PFAM
Pfam:AA_permease	11	433	3.4e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120484

SMART Domains

Protein: ENSMUSP00000112799
Gene: ENSMUSG00000039710

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	1	173	5.3e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120801

SMART Domains

Protein: ENSMUSP00000113566
Gene: ENSMUSG00000039710

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	1	173	5.3e-22	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.1%
20x: 90.5%

Validation Efficiency

96% (67/70)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	C	T	7: 119,259,829 (GRCm39)	H493Y	probably damaging	Het
Alox12e	T	C	11: 70,210,850 (GRCm39)	I290V	probably benign	Het
Ankfy1	T	A	11: 72,619,617 (GRCm39)	N163K	probably benign	Het
Baiap2l1	T	G	5: 144,218,951 (GRCm39)	N219T	probably benign	Het
Cd72	T	C	4: 43,448,345 (GRCm39)	I312V	probably benign	Het
Cfap54	A	T	10: 92,864,522 (GRCm39)	M139K	probably damaging	Het
Clec4n	T	A	6: 123,209,145 (GRCm39)	M70K	probably benign	Het
Cmklr2	A	C	1: 63,223,058 (GRCm39)	V59G	probably damaging	Het
Cwh43	T	A	5: 73,565,574 (GRCm39)	C46*	probably null	Het
Cyp1a2	A	T	9: 57,586,303 (GRCm39)	I405N	probably damaging	Het
Dlc1	G	T	8: 37,051,879 (GRCm39)	S617R	probably benign	Het
Eif2ak4	A	G	2: 118,304,613 (GRCm39)	N1546S	probably benign	Het
Elmo1	A	G	13: 20,756,555 (GRCm39)	I548V	probably benign	Het
Exoc6	A	G	19: 37,588,065 (GRCm39)	D566G	probably benign	Het
Fam20b	T	C	1: 156,533,299 (GRCm39)	T106A	probably damaging	Het
Fam83h	T	C	15: 75,874,752 (GRCm39)	T862A	probably benign	Het
Fgfr1op2	A	T	6: 146,498,860 (GRCm39)		probably null	Het
Gcnt2	A	G	13: 41,014,195 (GRCm39)	Y122C	probably damaging	Het
Gm11992	A	T	11: 9,018,333 (GRCm39)		probably null	Het
Gm5114	C	A	7: 39,058,534 (GRCm39)	E362*	probably null	Het
Gm815	A	G	19: 26,865,769 (GRCm39)	T96A	unknown	Het
Gm8674	A	G	13: 50,054,849 (GRCm39)		noncoding transcript	Het
Gnat3	T	A	5: 18,196,322 (GRCm39)	I56N	probably damaging	Het
Igkv1-133	T	C	6: 67,702,531 (GRCm39)	V83A	probably benign	Het
Mrgprb8	T	A	7: 48,038,471 (GRCm39)	N47K	probably damaging	Het
Nav2	A	G	7: 49,197,917 (GRCm39)	D1182G	probably damaging	Het
Neto2	T	C	8: 86,367,389 (GRCm39)	T480A	probably benign	Het
Npnt	T	G	3: 132,620,148 (GRCm39)	N115T	probably benign	Het
Nr1h5	T	C	3: 102,856,442 (GRCm39)	N279S	possibly damaging	Het
Ntrk2	T	C	13: 59,019,574 (GRCm39)	V395A	probably benign	Het
Or2ak6	T	C	11: 58,593,151 (GRCm39)	L208S	probably damaging	Het
Or5ac23	T	G	16: 59,148,994 (GRCm39)	N293H	probably damaging	Het
Or6c1	A	G	10: 129,517,925 (GRCm39)	S228P	probably damaging	Het
Padi2	A	G	4: 140,660,519 (GRCm39)	K333R	possibly damaging	Het
Pira1	T	A	7: 3,738,514 (GRCm39)	I621F	probably benign	Het
Ptgis	C	A	2: 167,066,039 (GRCm39)	M130I	probably benign	Het
Ptpn4	A	T	1: 119,693,649 (GRCm39)	Y124*	probably null	Het
Saal1	C	T	7: 46,349,072 (GRCm39)	V281M	probably benign	Het
Saxo1	G	A	4: 86,363,961 (GRCm39)	T174I	probably damaging	Het
Slco4c1	C	A	1: 96,799,770 (GRCm39)	R22L	probably benign	Het
Slfn9	T	G	11: 82,873,613 (GRCm39)	Q430P	possibly damaging	Het
Slit2	T	A	5: 48,346,897 (GRCm39)	N246K	probably damaging	Het
Stox2	G	T	8: 47,646,548 (GRCm39)	T304K	probably damaging	Het
Tmem87b	T	G	2: 128,693,240 (GRCm39)	F542V	possibly damaging	Het
Topaz1	T	G	9: 122,620,481 (GRCm39)		probably null	Het
Trappc12	G	A	12: 28,741,499 (GRCm39)	R737W	probably damaging	Het
Trim9	A	G	12: 70,393,566 (GRCm39)	I126T	possibly damaging	Het
Txnl1	A	G	18: 63,809,997 (GRCm39)	C149R	probably damaging	Het
Ubald1	G	A	16: 4,693,705 (GRCm39)	T70M	probably damaging	Het
Vash1	G	A	12: 86,735,902 (GRCm39)	V263M	possibly damaging	Het
Vsx1	T	C	2: 150,524,986 (GRCm39)	T343A	probably benign	Het
Zfp397	A	G	18: 24,093,081 (GRCm39)	N189D	probably benign	Het

Other mutations in Slc7a12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01465:Slc7a12	APN	3	14,564,383 (GRCm39)	missense	possibly damaging	0.46
IGL02798:Slc7a12	APN	3	14,546,217 (GRCm39)	missense	probably damaging	1.00
IGL03081:Slc7a12	APN	3	14,546,315 (GRCm39)	missense	probably benign	0.00
R1441:Slc7a12	UTSW	3	14,562,414 (GRCm39)	missense	possibly damaging	0.89
R1672:Slc7a12	UTSW	3	14,564,337 (GRCm39)	missense	possibly damaging	0.77
R2021:Slc7a12	UTSW	3	14,562,393 (GRCm39)	missense	probably damaging	0.99
R2209:Slc7a12	UTSW	3	14,546,124 (GRCm39)	missense	possibly damaging	0.81
R6136:Slc7a12	UTSW	3	14,564,186 (GRCm39)	missense	probably benign	0.01
R6154:Slc7a12	UTSW	3	14,546,094 (GRCm39)	missense	probably damaging	0.99
R6169:Slc7a12	UTSW	3	14,562,388 (GRCm39)	missense	probably damaging	1.00
R6180:Slc7a12	UTSW	3	14,546,200 (GRCm39)	splice site	probably null
R6714:Slc7a12	UTSW	3	14,546,380 (GRCm39)	missense	probably benign	0.14
R6723:Slc7a12	UTSW	3	14,564,257 (GRCm39)	missense	probably benign	0.07
R7003:Slc7a12	UTSW	3	14,570,580 (GRCm39)	missense	probably damaging	0.99
R7230:Slc7a12	UTSW	3	14,570,441 (GRCm39)	missense	probably damaging	1.00
R7651:Slc7a12	UTSW	3	14,546,509 (GRCm39)	missense	probably benign	0.01
R8429:Slc7a12	UTSW	3	14,562,342 (GRCm39)	missense	probably benign	0.02
R9164:Slc7a12	UTSW	3	14,564,360 (GRCm39)	missense	probably damaging	0.99
R9259:Slc7a12	UTSW	3	14,546,376 (GRCm39)	missense	probably damaging	1.00
R9344:Slc7a12	UTSW	3	14,570,491 (GRCm39)	missense	probably damaging	1.00
R9431:Slc7a12	UTSW	3	14,546,035 (GRCm39)	missense	probably damaging	1.00
R9563:Slc7a12	UTSW	3	14,564,360 (GRCm39)	missense	possibly damaging	0.91
R9687:Slc7a12	UTSW	3	14,545,960 (GRCm39)	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- GGCAACACCCTGTTTGACAG -3'
(R):5'- CACCAATGCCTAGAAAGTGAGC -3'

Sequencing Primer
(F):5'- GACAGGGTTTTTCACAAACTGACAG -3'
(R):5'- GCAACAGAGGATCCAAGAGTTCTC -3'

Posted On

2016-10-06