Mutagenetix > Incidental Mutation

Incidental Mutation 'R1441:Slc7a12'

160990

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

039496-MU

Accession Numbers

Essential gene?

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

Stock #

R1441 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14545757-14570879 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 14562414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 264 (S264A)

Ref Sequence

ENSEMBL: ENSMUSP00000038574 (fasta)

Gene Model

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

AlphaFold

Q8VIE6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037321
AA Change: S264A

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038574
Gene: ENSMUSG00000039710
AA Change: S264A

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	A	T	8: 114,481,194 (GRCm39)		probably null	Het
Ankrd16	T	C	2: 11,783,557 (GRCm39)	L53P	probably damaging	Het
Arsk	A	T	13: 76,223,083 (GRCm39)	N171K	probably benign	Het
Brwd1	A	C	16: 95,867,351 (GRCm39)	C161W	probably damaging	Het
Card9	T	C	2: 26,249,402 (GRCm39)	N53S	probably benign	Het
Ccdc13	A	T	9: 121,642,515 (GRCm39)	V403E	probably benign	Het
Ccdc83	T	A	7: 89,893,351 (GRCm39)	E135D	probably damaging	Het
Ccser1	C	T	6: 62,357,016 (GRCm39)	T818I	probably benign	Het
Cd44	T	A	2: 102,676,763 (GRCm39)	T301S	probably damaging	Het
Eepd1	G	A	9: 25,394,499 (GRCm39)	M254I	probably benign	Het
Ephb4	C	T	5: 137,359,509 (GRCm39)	R360C	probably damaging	Het
Fam149a	G	T	8: 45,808,684 (GRCm39)	Q150K	probably damaging	Het
G6pc2	G	A	2: 69,051,198 (GRCm39)	C97Y	probably damaging	Het
Gcsam	T	A	16: 45,433,401 (GRCm39)	M15K	probably benign	Het
Impdh2	C	A	9: 108,441,975 (GRCm39)	T201K	probably benign	Het
Kdm2b	C	T	5: 123,070,943 (GRCm39)	E379K	probably benign	Het
Mcm3ap	T	C	10: 76,307,000 (GRCm39)	V371A	probably benign	Het
Mink1	T	A	11: 70,497,940 (GRCm39)	N514K	possibly damaging	Het
Mmp12	C	T	9: 7,354,787 (GRCm39)	P330L	probably damaging	Het
Mroh2a	A	G	1: 88,169,353 (GRCm39)	D676G	possibly damaging	Het
Myo1a	C	T	10: 127,555,148 (GRCm39)	P838L	probably benign	Het
Naip5	T	C	13: 100,356,225 (GRCm39)	H1130R	possibly damaging	Het
Ninl	C	A	2: 150,813,044 (GRCm39)	G204V	probably benign	Het
Or12k5	C	A	2: 36,895,131 (GRCm39)	R165L	possibly damaging	Het
Or2a54	T	C	6: 43,092,880 (GRCm39)	V68A	probably benign	Het
Or4k51	T	C	2: 111,585,347 (GRCm39)	F251S	probably damaging	Het
Or5ac20	G	A	16: 59,104,228 (GRCm39)	L211F	probably benign	Het
Or5an11	T	A	19: 12,245,750 (GRCm39)	L52*	probably null	Het
Or8c15	T	C	9: 38,120,777 (GRCm39)	C141R	probably damaging	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Pip4p2	A	T	4: 14,892,477 (GRCm39)	I114L	possibly damaging	Het
Ptpn22	G	T	3: 103,781,563 (GRCm39)	W114L	probably damaging	Het
Rasa1	C	T	13: 85,400,540 (GRCm39)		probably null	Het
Rbks	C	T	5: 31,817,341 (GRCm39)	V143I	probably benign	Het
Rbm19	T	C	5: 120,269,241 (GRCm39)	F515L	probably damaging	Het
Ror1	A	G	4: 100,298,180 (GRCm39)	T518A	probably benign	Het
Rpusd4	C	A	9: 35,184,065 (GRCm39)	A240E	probably damaging	Het
Rufy3	T	C	5: 88,780,374 (GRCm39)	L374P	probably damaging	Het
Sf3a3	T	C	4: 124,618,935 (GRCm39)	S299P	probably damaging	Het
Tasor	T	A	14: 27,186,217 (GRCm39)	C805*	probably null	Het
Tm9sf1	T	C	14: 55,873,782 (GRCm39)	Y572C	probably damaging	Het
Tpcn2	G	A	7: 144,813,871 (GRCm39)	S475L	probably benign	Het
Trim17	A	G	11: 58,856,018 (GRCm39)	D25G	probably damaging	Het
Ttn	T	A	2: 76,572,121 (GRCm39)	K26257N	probably damaging	Het
Txndc11	C	A	16: 10,952,414 (GRCm39)		probably benign	Het
Utrn	A	G	10: 12,559,039 (GRCm39)	S1405P	probably damaging	Het
Vmn2r58	G	A	7: 41,486,864 (GRCm39)	T677I	probably damaging	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
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
R5471:Slc7a12	UTSW	3	14,545,935 (GRCm39)	missense	probably damaging	1.00
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'- CCCCATGAGATGGGACTTTGGAAAC -3'
(R):5'- GGTGCCATATGAAAATGCTGAGTGC -3'

Sequencing Primer
(F):5'- GGGACTTTGGAAACTTCACATGC -3'
(R):5'- AATAAGAGACCTGTGACCTCAG -3'

Posted On

2014-03-14