Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03046:Slc43a1'

408914

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc43a1

Ensembl Gene

ENSMUSG00000027075

Gene Name

solute carrier family 43, member 1

Synonyms

Lat3, Pov1, PB39, 2610016F07Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

IGL03046 (G1)

Quality Score

Status

Chromosome

Chromosomal Location

84838850-84863594 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 84854553 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028469] [ENSMUST00000111624] [ENSMUST00000111625] [ENSMUST00000121114] [ENSMUST00000146816]

Predicted Effect

probably benign
Transcript: ENSMUST00000028469

SMART Domains

Protein: ENSMUSP00000028469
Gene: ENSMUSG00000027075

Domain	Start	End	E-Value	Type
Pfam:MFS_1	60	542	6.2e-14	PFAM
transmembrane domain	559	581	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111624

SMART Domains

Protein: ENSMUSP00000107251
Gene: ENSMUSG00000027075

Domain	Start	End	E-Value	Type
Pfam:MFS_1	16	499	3.7e-14	PFAM
transmembrane domain	516	538	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111625

SMART Domains

Protein: ENSMUSP00000107252
Gene: ENSMUSG00000027075

Domain	Start	End	E-Value	Type
low complexity region	5	20	N/A	INTRINSIC
Pfam:MFS_1	49	524	2.7e-13	PFAM
transmembrane domain	542	564	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121114

SMART Domains

Protein: ENSMUSP00000112642
Gene: ENSMUSG00000027075

Domain	Start	End	E-Value	Type
Pfam:MFS_1	16	499	3.7e-14	PFAM
transmembrane domain	516	538	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145004

Predicted Effect

probably benign
Transcript: ENSMUST00000146816

SMART Domains

Protein: ENSMUSP00000121368
Gene: ENSMUSG00000027075

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	75	97	N/A	INTRINSIC

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (55/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC43A1 belongs to the system L family of plasma membrane carrier proteins that transports large neutral amino acids (Babu et al., 2003 [PubMed 12930836]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,615,150	L279Q	possibly damaging	Het
A2m	T	A	6: 121,659,323	M717K	probably benign	Het
Acad12	C	A	5: 121,609,966	V130L	probably benign	Het
Cdca2	T	C	14: 67,700,022		probably benign	Het
Cfap100	T	A	6: 90,412,350		probably null	Het
Cfap43	T	A	19: 47,815,863	E298V	probably damaging	Het
Cic	C	T	7: 25,291,075	P1971S	probably damaging	Het
Cnga1	T	C	5: 72,604,338	D611G	probably benign	Het
Daglb	C	T	5: 143,501,193	P522L	probably damaging	Het
Dclre1b	A	T	3: 103,803,281	I438K	probably benign	Het
Ddx5	C	A	11: 106,785,045	R273M	probably damaging	Het
Eepd1	C	T	9: 25,482,685	L82F	probably damaging	Het
Emilin3	G	A	2: 160,908,729	Q320*	probably null	Het
Exoc6	T	C	19: 37,593,769		probably null	Het
Fcna	G	C	2: 25,630,681		probably benign	Het
Foxs1	T	C	2: 152,932,564	T190A	probably benign	Het
Gje1	A	G	10: 14,716,630	L136P	probably damaging	Het
Hdac11	A	G	6: 91,168,845	T176A	probably benign	Het
Hhip	C	A	8: 79,972,338	V700L	probably damaging	Het
Hps5	T	C	7: 46,777,039		probably benign	Het
Itgb1bp1	T	C	12: 21,279,435	S13G	unknown	Het
Kcna1	A	T	6: 126,642,185	L391M	possibly damaging	Het
Kif1a	C	T	1: 93,082,406	V6M	probably damaging	Het
Klhl6	T	C	16: 19,982,889	I39V	probably benign	Het
Ltn1	A	T	16: 87,405,621	S1047R	probably benign	Het
Mdn1	A	G	4: 32,694,495	T1073A	possibly damaging	Het
Megf10	G	T	18: 57,287,983	A898S	possibly damaging	Het
Mtmr6	T	C	14: 60,292,128		probably null	Het
Mtnr1b	T	C	9: 15,862,763	I333M	probably benign	Het
Muc5ac	G	T	7: 141,795,213	C463F	probably benign	Het
Mycbpap	G	T	11: 94,505,717	T99N	possibly damaging	Het
Myo7a	C	T	7: 98,079,327	C824Y	probably damaging	Het
N4bp2	A	G	5: 65,790,960	H311R	probably damaging	Het
Nepro	T	A	16: 44,732,146		probably benign	Het
Nop56	A	T	2: 130,275,569		probably benign	Het
Nup210	A	G	6: 91,018,996		probably benign	Het
Olfr1426	A	G	19: 12,088,027	V255A	probably damaging	Het
Olfr843	T	A	9: 19,249,145	I85F	probably damaging	Het
Pcna	C	T	2: 132,251,753	E109K	probably benign	Het
Pkhd1	T	G	1: 20,537,365	D1089A	possibly damaging	Het
Plb1	A	G	5: 32,328,412	R847G	probably damaging	Het
Pou6f2	A	G	13: 18,129,027		probably benign	Het
Prss43	C	G	9: 110,830,981	S371C	probably benign	Het
Ralgapa1	A	T	12: 55,695,157	V1322D	probably damaging	Het
Rrp8	A	G	7: 105,734,902	V131A	probably benign	Het
Rtp1	A	T	16: 23,429,294	K39M	probably benign	Het
Slc1a6	A	G	10: 78,800,174	I358V	probably benign	Het
Slc25a15	T	C	8: 22,395,710		probably benign	Het
Speer4c	A	C	5: 15,714,216		probably benign	Het
Spock3	T	G	8: 63,348,984		probably null	Het
Tbc1d7	T	C	13: 43,154,686		probably null	Het
Tmem184c	C	T	8: 77,599,657	W260*	probably null	Het
Tmem8	A	T	17: 26,119,440		probably null	Het
Trnau1ap	A	G	4: 132,311,941	Y265H	probably damaging	Het
Usp25	T	C	16: 77,074,866	F363S	probably damaging	Het
Vcl	T	C	14: 21,022,017	F817L	possibly damaging	Het
Vmn1r13	T	A	6: 57,210,732	M292K	probably benign	Het
Xpc	G	T	6: 91,510,481	A89E	probably damaging	Het

Other mutations in Slc43a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02326:Slc43a1	APN	2	84849771	missense	probably damaging	1.00
IGL02480:Slc43a1	APN	2	84839584	missense	probably benign	0.02
IGL02740:Slc43a1	APN	2	84859750	missense	probably damaging	1.00
IGL02972:Slc43a1	APN	2	84860118	missense	probably damaging	1.00
IGL03166:Slc43a1	APN	2	84857356	missense	possibly damaging	0.91
R1470:Slc43a1	UTSW	2	84859676	splice site	probably benign
R1982:Slc43a1	UTSW	2	84856889	missense	possibly damaging	0.94
R2087:Slc43a1	UTSW	2	84849831	missense	probably damaging	1.00
R2141:Slc43a1	UTSW	2	84840961	missense	probably damaging	1.00
R2969:Slc43a1	UTSW	2	84857335	missense	probably damaging	1.00
R6208:Slc43a1	UTSW	2	84856840	missense	possibly damaging	0.54
R6362:Slc43a1	UTSW	2	84859784	missense	probably damaging	1.00
X0019:Slc43a1	UTSW	2	84855583	missense	possibly damaging	0.70

Posted On

2016-08-02