Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02480:Slc43a1'

295176

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc43a1

Ensembl Gene

ENSMUSG00000027075

Gene Name

solute carrier family 43, member 1

Synonyms

2610016F07Rik, Pov1, Lat3, PB39

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

IGL02480

Quality Score

Status

Chromosome

Chromosomal Location

84669196-84693930 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84669928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 7 (I7V)

Ref Sequence

ENSEMBL: ENSMUSP00000028469 (fasta)

Gene Model

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

AlphaFold

Q8BSM7

Predicted Effect

probably benign
Transcript: ENSMUST00000028469
AA Change: I7V

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000028469
Gene: ENSMUSG00000027075
AA Change: I7V

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

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	A	3: 59,946,908 (GRCm39)	I202K	probably benign	Het
Abcc1	T	A	16: 14,221,869 (GRCm39)	S169T	possibly damaging	Het
Acsm1	A	T	7: 119,255,265 (GRCm39)	I389F	possibly damaging	Het
Actn2	T	A	13: 12,291,364 (GRCm39)	Q680L	probably benign	Het
Ankrd13d	G	A	19: 4,321,491 (GRCm39)	P404S	possibly damaging	Het
Ankrd46	G	T	15: 36,484,142 (GRCm39)		probably benign	Het
Arfip1	A	G	3: 84,455,239 (GRCm39)		probably null	Het
Asb15	A	T	6: 24,570,745 (GRCm39)	L574F	probably damaging	Het
Cym	T	C	3: 107,120,838 (GRCm39)	I256V	probably benign	Het
Cyp3a44	C	T	5: 145,731,715 (GRCm39)	E144K	possibly damaging	Het
Efna1	T	C	3: 89,179,902 (GRCm39)	E109G	probably benign	Het
Eif4a3l1	A	T	6: 136,306,213 (GRCm39)	I225F	probably damaging	Het
Eml1	C	A	12: 108,487,955 (GRCm39)	Q556K	probably benign	Het
Eml5	T	G	12: 98,842,502 (GRCm39)	T199P	probably damaging	Het
Entr1	T	A	2: 26,275,132 (GRCm39)	H342L	probably damaging	Het
Etl4	A	C	2: 20,793,335 (GRCm39)	M687L	probably damaging	Het
Fam199x	C	A	X: 135,950,788 (GRCm39)	T56K	probably damaging	Het
Fat4	A	G	3: 39,064,579 (GRCm39)	D4845G	probably damaging	Het
Gm4987	T	A	X: 45,544,973 (GRCm39)		noncoding transcript	Het
Gm5828	C	A	1: 16,839,766 (GRCm39)		noncoding transcript	Het
Gm5930	T	C	14: 44,575,087 (GRCm39)	Y68C	probably benign	Het
Gucy1a1	C	T	3: 82,005,040 (GRCm39)	V582M	probably damaging	Het
Haghl	G	T	17: 26,002,033 (GRCm39)	A220E	probably damaging	Het
Hsf5	G	A	11: 87,522,483 (GRCm39)	A359T	possibly damaging	Het
Igsf9	C	A	1: 172,324,480 (GRCm39)	D799E	possibly damaging	Het
Igsf9	A	T	1: 172,312,345 (GRCm39)		probably benign	Het
Itga1	A	T	13: 115,124,184 (GRCm39)	F703I	probably damaging	Het
Kcna6	G	A	6: 126,715,531 (GRCm39)	P453S	probably damaging	Het
Lzic	A	T	4: 149,571,260 (GRCm39)	N15I	probably damaging	Het
Or1j10	T	G	2: 36,267,504 (GRCm39)	C239G	probably damaging	Het
Or2n1d	A	G	17: 38,646,314 (GRCm39)	R89G	probably benign	Het
Or4f54	A	G	2: 111,122,858 (GRCm39)	I82V	possibly damaging	Het
Or5p78	C	T	7: 108,212,018 (GRCm39)	T168I	probably benign	Het
P4ha1	T	C	10: 59,179,574 (GRCm39)	Y141H	probably damaging	Het
Paxx	G	A	2: 25,350,024 (GRCm39)	P164S	probably damaging	Het
Pgd	A	G	4: 149,241,075 (GRCm39)	V278A	probably damaging	Het
Pik3c2g	A	G	6: 139,798,526 (GRCm39)	Y352C	probably damaging	Het
Pkd2l2	A	G	18: 34,571,843 (GRCm39)	N614S	possibly damaging	Het
Poli	T	C	18: 70,658,477 (GRCm39)	T86A	probably benign	Het
Psd2	G	A	18: 36,139,136 (GRCm39)	R528H	probably damaging	Het
Ptchd4	G	T	17: 42,813,431 (GRCm39)	C444F	probably benign	Het
Ptpra	C	A	2: 130,346,181 (GRCm39)	T114K	probably benign	Het
Rho	A	G	6: 115,912,505 (GRCm39)	N123S	probably benign	Het
Setd5	A	G	6: 113,120,770 (GRCm39)	D993G	probably damaging	Het
Slc1a2	T	C	2: 102,566,411 (GRCm39)	L38P	probably damaging	Het
Slc2a7	G	A	4: 150,244,569 (GRCm39)	V346M	possibly damaging	Het
Spag9	C	T	11: 93,999,413 (GRCm39)	Q691*	probably null	Het
Timmdc1	A	T	16: 38,342,763 (GRCm39)	V45D	probably null	Het
Tlr8	T	A	X: 166,027,179 (GRCm39)	H557L	probably damaging	Het

Other mutations in Slc43a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02326:Slc43a1	APN	2	84,680,115 (GRCm39)	missense	probably damaging	1.00
IGL02740:Slc43a1	APN	2	84,690,094 (GRCm39)	missense	probably damaging	1.00
IGL02972:Slc43a1	APN	2	84,690,462 (GRCm39)	missense	probably damaging	1.00
IGL03046:Slc43a1	APN	2	84,684,897 (GRCm39)	unclassified	probably benign
IGL03166:Slc43a1	APN	2	84,687,700 (GRCm39)	missense	possibly damaging	0.91
R1470:Slc43a1	UTSW	2	84,690,020 (GRCm39)	splice site	probably benign
R1982:Slc43a1	UTSW	2	84,687,233 (GRCm39)	missense	possibly damaging	0.94
R2087:Slc43a1	UTSW	2	84,680,175 (GRCm39)	missense	probably damaging	1.00
R2141:Slc43a1	UTSW	2	84,671,305 (GRCm39)	missense	probably damaging	1.00
R2969:Slc43a1	UTSW	2	84,687,679 (GRCm39)	missense	probably damaging	1.00
R6208:Slc43a1	UTSW	2	84,687,184 (GRCm39)	missense	possibly damaging	0.54
R6362:Slc43a1	UTSW	2	84,690,128 (GRCm39)	missense	probably damaging	1.00
R7341:Slc43a1	UTSW	2	84,693,278 (GRCm39)	missense	probably damaging	1.00
R7768:Slc43a1	UTSW	2	84,687,215 (GRCm39)	missense	probably damaging	1.00
R7776:Slc43a1	UTSW	2	84,671,197 (GRCm39)	missense	probably damaging	1.00
R7859:Slc43a1	UTSW	2	84,687,220 (GRCm39)	missense	possibly damaging	0.83
R8082:Slc43a1	UTSW	2	84,687,244 (GRCm39)	missense	probably benign
R8240:Slc43a1	UTSW	2	84,690,167 (GRCm39)	missense	possibly damaging	0.67
R8395:Slc43a1	UTSW	2	84,671,266 (GRCm39)	missense	probably damaging	1.00
R8861:Slc43a1	UTSW	2	84,691,748 (GRCm39)	missense	possibly damaging	0.76
R8937:Slc43a1	UTSW	2	84,690,450 (GRCm39)	missense	probably damaging	1.00
R9383:Slc43a1	UTSW	2	84,690,506 (GRCm39)	missense	probably damaging	1.00
X0019:Slc43a1	UTSW	2	84,685,927 (GRCm39)	missense	possibly damaging	0.70

Posted On

2015-04-16