Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01573:Slco1a4'

91172

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slco1a4

Ensembl Gene

ENSMUSG00000030237

Gene Name

solute carrier organic anion transporter family, member 1a4

Synonyms

Oatp2, Oatp1a4, Slc21a5

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

IGL01573

Quality Score

Status

Chromosome

Chromosomal Location

141751166-141801925 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 141758577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130746 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032364] [ENSMUST00000165990]

AlphaFold

Q9EP96

Predicted Effect

probably benign
Transcript: ENSMUST00000032364

SMART Domains

Protein: ENSMUSP00000032364
Gene: ENSMUSG00000030237

Domain	Start	End	E-Value	Type
Pfam:OATP	19	598	3.2e-196	PFAM
Pfam:MFS_1	22	421	9.2e-27	PFAM
Pfam:Kazal_2	445	486	5e-10	PFAM
transmembrane domain	600	622	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165990

SMART Domains

Protein: ENSMUSP00000130746
Gene: ENSMUSG00000030237

Domain	Start	End	E-Value	Type
Pfam:OATP	21	597	3.2e-164	PFAM
Pfam:MFS_1	22	421	7.2e-27	PFAM
Pfam:Kazal_2	445	486	6.8e-11	PFAM
transmembrane domain	600	622	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired organic anion transporter activity and urinary metabolomic profiles. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
B3gntl1	A	G	11: 121,561,789 (GRCm39)	S58P	probably damaging	Het
Cacna1e	T	C	1: 154,347,113 (GRCm39)	D1018G	probably benign	Het
Cenpq	T	C	17: 41,240,936 (GRCm39)	I108V	possibly damaging	Het
Il7	T	C	3: 7,638,903 (GRCm39)	I154M	possibly damaging	Het
Itga9	C	A	9: 118,706,298 (GRCm39)		probably benign	Het
Klhl1	A	G	14: 96,438,640 (GRCm39)		probably benign	Het
Lrrc72	T	A	12: 36,262,561 (GRCm39)		probably null	Het
Mbd3	G	T	10: 80,229,095 (GRCm39)	Q233K	probably benign	Het
Mettl5	G	A	2: 69,711,659 (GRCm39)	A69V	probably damaging	Het
Naip1	C	A	13: 100,563,890 (GRCm39)	C425F	probably benign	Het
Ncor2	T	C	5: 125,162,090 (GRCm39)	I395V	unknown	Het
Nelfb	A	G	2: 25,093,969 (GRCm39)	L393P	probably damaging	Het
Or4a70	A	T	2: 89,324,545 (GRCm39)	M37K	probably damaging	Het
Rgs5	T	C	1: 169,504,413 (GRCm39)	I21T	probably benign	Het
Slc22a2	G	A	17: 12,824,848 (GRCm39)	V237I	probably damaging	Het
Slc5a1	A	G	5: 33,318,209 (GRCm39)	M621V	probably benign	Het
Smg1	A	G	7: 117,767,185 (GRCm39)		probably benign	Het
Trim3	A	G	7: 105,274,700 (GRCm39)	M15T	possibly damaging	Het

Other mutations in Slco1a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00976:Slco1a4	APN	6	141,752,908 (GRCm39)	critical splice acceptor site	probably null
IGL01735:Slco1a4	APN	6	141,763,477 (GRCm39)	missense	probably benign	0.00
IGL03115:Slco1a4	APN	6	141,763,585 (GRCm39)	missense	probably damaging	1.00
IGL03115:Slco1a4	APN	6	141,765,329 (GRCm39)	missense	probably benign	0.05
R0062:Slco1a4	UTSW	6	141,765,205 (GRCm39)	nonsense	probably null
R0062:Slco1a4	UTSW	6	141,765,205 (GRCm39)	nonsense	probably null
R0305:Slco1a4	UTSW	6	141,763,479 (GRCm39)	missense	possibly damaging	0.47
R0511:Slco1a4	UTSW	6	141,776,586 (GRCm39)	splice site	probably benign
R0660:Slco1a4	UTSW	6	141,758,467 (GRCm39)	missense	probably benign	0.05
R0664:Slco1a4	UTSW	6	141,758,467 (GRCm39)	missense	probably benign	0.05
R1589:Slco1a4	UTSW	6	141,791,173 (GRCm39)	missense	probably benign
R1606:Slco1a4	UTSW	6	141,785,337 (GRCm39)	missense	probably damaging	1.00
R1665:Slco1a4	UTSW	6	141,785,303 (GRCm39)	missense	possibly damaging	0.79
R1742:Slco1a4	UTSW	6	141,770,771 (GRCm39)	missense	probably benign	0.07
R1763:Slco1a4	UTSW	6	141,758,457 (GRCm39)	missense	probably benign	0.26
R1893:Slco1a4	UTSW	6	141,780,342 (GRCm39)	splice site	probably null
R1908:Slco1a4	UTSW	6	141,761,173 (GRCm39)	critical splice donor site	probably null
R1944:Slco1a4	UTSW	6	141,785,276 (GRCm39)	missense	probably benign	0.00
R2144:Slco1a4	UTSW	6	141,755,104 (GRCm39)	missense	probably damaging	1.00
R2276:Slco1a4	UTSW	6	141,761,308 (GRCm39)	missense	possibly damaging	0.49
R2340:Slco1a4	UTSW	6	141,787,103 (GRCm39)	missense	probably benign	0.00
R3017:Slco1a4	UTSW	6	141,758,396 (GRCm39)	splice site	probably null
R3769:Slco1a4	UTSW	6	141,785,357 (GRCm39)	missense	probably damaging	1.00
R4577:Slco1a4	UTSW	6	141,765,266 (GRCm39)	missense	probably damaging	0.97
R4650:Slco1a4	UTSW	6	141,758,424 (GRCm39)	missense	possibly damaging	0.94
R4801:Slco1a4	UTSW	6	141,791,223 (GRCm39)	start gained	probably benign
R4802:Slco1a4	UTSW	6	141,791,223 (GRCm39)	start gained	probably benign
R4896:Slco1a4	UTSW	6	141,761,231 (GRCm39)	missense	possibly damaging	0.91
R5126:Slco1a4	UTSW	6	141,761,308 (GRCm39)	missense	possibly damaging	0.94
R5183:Slco1a4	UTSW	6	141,785,357 (GRCm39)	missense	probably damaging	1.00
R5399:Slco1a4	UTSW	6	141,776,433 (GRCm39)	missense	probably damaging	0.98
R5645:Slco1a4	UTSW	6	141,780,385 (GRCm39)	missense	possibly damaging	0.95
R5650:Slco1a4	UTSW	6	141,755,120 (GRCm39)	missense	possibly damaging	0.69
R5832:Slco1a4	UTSW	6	141,765,270 (GRCm39)	missense	probably benign	0.00
R6180:Slco1a4	UTSW	6	141,763,546 (GRCm39)	missense	possibly damaging	0.95
R6415:Slco1a4	UTSW	6	141,780,415 (GRCm39)	nonsense	probably null
R6992:Slco1a4	UTSW	6	141,765,330 (GRCm39)	missense	probably benign	0.05
R7024:Slco1a4	UTSW	6	141,780,434 (GRCm39)	missense	probably benign	0.00
R7696:Slco1a4	UTSW	6	141,756,237 (GRCm39)	nonsense	probably null
R7751:Slco1a4	UTSW	6	141,780,413 (GRCm39)	missense	possibly damaging	0.47
R8743:Slco1a4	UTSW	6	141,765,255 (GRCm39)	missense	possibly damaging	0.93
R9173:Slco1a4	UTSW	6	141,761,299 (GRCm39)	missense	probably benign	0.03

Posted On

2013-12-09