Mutagenetix > Incidental Mutation

Incidental Mutation 'R8429:Slc7a12'

653636

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

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

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R8429 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14480697-14505830 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14497282 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 240 (I240F)

Ref Sequence

ENSEMBL: ENSMUSP00000038574 (fasta)

Gene Model

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

AlphaFold

Q8VIE6

Predicted Effect

probably benign
Transcript: ENSMUST00000037321
AA Change: I240F

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000038574
Gene: ENSMUSG00000039710
AA Change: I240F

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	A	T	17: 48,037,066	L143*	probably null	Het
2900026A02Rik	T	C	5: 113,183,436	T971A	probably benign	Het
4932415D10Rik	G	T	10: 82,289,467	Q2570K	possibly damaging	Het
4933425L06Rik	A	G	13: 105,118,788	Y459C	probably damaging	Het
Abca6	A	T	11: 110,202,382	C1022S	probably benign	Het
Adgrf4	G	T	17: 42,667,449	N334K	probably benign	Het
Baz1b	A	G	5: 135,217,331	K545E	probably benign	Het
Bin3	A	G	14: 70,137,149	Y209C	probably damaging	Het
Btbd16	G	A	7: 130,795,337	A223T	probably benign	Het
C3	A	G	17: 57,222,811	V555A	probably damaging	Het
Calm3	T	A	7: 16,919,667		probably null	Het
Cct4	T	A	11: 22,996,030	L124Q	probably damaging	Het
Cenpf	C	T	1: 189,657,307	D1443N	possibly damaging	Het
Egfem1	G	A	3: 29,657,268		probably null	Het
Epha4	G	T	1: 77,390,036	Q591K	probably benign	Het
Fanci	T	C	7: 79,438,385	F929L	possibly damaging	Het
Fnip1	A	T	11: 54,475,696	D95V	possibly damaging	Het
Foxc1	A	T	13: 31,807,776	H190L	probably benign	Het
Gm45713	T	C	7: 45,136,116	S2G	unknown	Het
Grin2b	T	C	6: 135,733,916	I877M	probably damaging	Het
Hadha	T	C	5: 30,144,257	I119V	probably benign	Het
Hcar2	C	T	5: 123,865,475		probably benign	Het
Krt13	A	T	11: 100,121,125	L124Q	probably damaging	Het
Larp1b	A	G	3: 40,977,227	*336W	probably null	Het
Lrmp	C	A	6: 145,165,223	D251E	probably damaging	Het
Man2c1	T	C	9: 57,131,161	L35P	probably damaging	Het
Meioc	A	T	11: 102,674,206	N160I	probably benign	Het
Mfsd2b	G	T	12: 4,866,487	Q331K	possibly damaging	Het
Mical2	T	A	7: 112,345,253	V930E	probably benign	Het
Mrgprb4	A	T	7: 48,198,425	F252I	probably benign	Het
Nars	A	G	18: 64,501,320	Y511H	probably damaging	Het
Naxe	C	A	3: 88,058,152	S84I	probably damaging	Het
Ncam2	A	T	16: 81,589,635	D634V	probably damaging	Het
Npat	C	T	9: 53,570,609	Q1206*	probably null	Het
Nr1d2	G	A	14: 18,215,409	T201I	probably benign	Het
Nup155	C	T	15: 8,112,420	H99Y	probably damaging	Het
Olfr1130	G	T	2: 87,607,524	L45F	probably benign	Het
Olfr1289	G	A	2: 111,483,495	V50I	possibly damaging	Het
Olfr209	A	G	16: 59,361,627	V197A	possibly damaging	Het
Olfr826	A	G	10: 130,180,223	V219A	possibly damaging	Het
Pcnx3	C	T	19: 5,665,384	G1946E	probably damaging	Het
Pde6a	T	A	18: 61,232,844	Y214N	probably damaging	Het
Pex7	T	C	10: 19,894,328	T145A	probably damaging	Het
Plekhj1	C	T	10: 80,796,470	S146N	probably benign	Het
Ralgapb	C	T	2: 158,426,297	P107S	probably damaging	Het
Satb1	A	G	17: 51,767,950	M506T	probably damaging	Het
Sh3gl1	T	C	17: 56,018,821	N203D	possibly damaging	Het
Syt17	T	A	7: 118,434,341	Y144F	probably benign	Het
Thbd	G	T	2: 148,407,537	T137K	possibly damaging	Het
Tmem114	A	G	16: 8,412,167	F124L	probably damaging	Het
Ubtd1	G	T	19: 42,032,117		probably null	Het
Zfp458	A	G	13: 67,258,088	Y96H	possibly damaging	Het
Zfp78	T	C	7: 6,378,493	S181P	probably benign	Het

Other mutations in Slc7a12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01465:Slc7a12	APN	3	14499323	missense	possibly damaging	0.46
IGL02798:Slc7a12	APN	3	14481157	missense	probably damaging	1.00
IGL03081:Slc7a12	APN	3	14481255	missense	probably benign	0.00
R1441:Slc7a12	UTSW	3	14497354	missense	possibly damaging	0.89
R1672:Slc7a12	UTSW	3	14499277	missense	possibly damaging	0.77
R2021:Slc7a12	UTSW	3	14497333	missense	probably damaging	0.99
R2209:Slc7a12	UTSW	3	14481064	missense	possibly damaging	0.81
R5471:Slc7a12	UTSW	3	14480875	missense	probably damaging	1.00
R6136:Slc7a12	UTSW	3	14499126	missense	probably benign	0.01
R6154:Slc7a12	UTSW	3	14481034	missense	probably damaging	0.99
R6169:Slc7a12	UTSW	3	14497328	missense	probably damaging	1.00
R6180:Slc7a12	UTSW	3	14481140	splice site	probably null
R6714:Slc7a12	UTSW	3	14481320	missense	probably benign	0.14
R6723:Slc7a12	UTSW	3	14499197	missense	probably benign	0.07
R7003:Slc7a12	UTSW	3	14505520	missense	probably damaging	0.99
R7230:Slc7a12	UTSW	3	14505381	missense	probably damaging	1.00
R7651:Slc7a12	UTSW	3	14481449	missense	probably benign	0.01
R9164:Slc7a12	UTSW	3	14499300	missense	probably damaging	0.99
R9259:Slc7a12	UTSW	3	14481316	missense	probably damaging	1.00
R9344:Slc7a12	UTSW	3	14505431	missense	probably damaging	1.00
R9431:Slc7a12	UTSW	3	14480975	missense	probably damaging	1.00
R9563:Slc7a12	UTSW	3	14499300	missense	possibly damaging	0.91
R9687:Slc7a12	UTSW	3	14480900	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- CATGCTTCTGCCTCAGTAAAAG -3'
(R):5'- AGGTCTAACTGCCCTAGTTCATTC -3'

Sequencing Primer
(F):5'- GACAATAGAAAATCCCTAGTGACG -3'
(R):5'- TCTGCCTACCAGAGCAATAAACCTG -3'

Posted On

2020-10-20