Mutagenetix > Incidental Mutation

Incidental Mutation 'R0660:Slco1a4'

61816

Institutional Source

Beutler Lab

Gene Symbol

Slco1a4

Ensembl Gene

ENSMUSG00000030237

Gene Name

solute carrier organic anion transporter family, member 1a4

Synonyms

Oatp2, Oatp1a4, Slc21a5

MMRRC Submission

038845-MU

Accession Numbers

Essential gene?

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

Stock #

R0660 (G1)

Quality Score

130

Status

Validated

Chromosome

Chromosomal Location

141751166-141801925 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141758467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 515 (I515V)

Ref Sequence

ENSEMBL: ENSMUSP00000130746 (fasta)

Gene Model

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

AlphaFold

Q9EP96

Predicted Effect

probably benign
Transcript: ENSMUST00000032364
AA Change: I515V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000032364
Gene: ENSMUSG00000030237
AA Change: I515V

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
AA Change: I515V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000130746
Gene: ENSMUSG00000030237
AA Change: I515V

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

Meta Mutation Damage Score

0.1189

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

100% (43/43)

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: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	T	C	17: 48,473,759 (GRCm39)	I53V	probably benign	Het
Abtb3	G	A	10: 85,224,234 (GRCm39)	A348T	possibly damaging	Het
Actr3	T	A	1: 125,336,304 (GRCm39)	I129L	probably benign	Het
Armcx2	G	A	X: 133,706,385 (GRCm39)	T416I	possibly damaging	Het
Aspm	T	A	1: 139,385,502 (GRCm39)	M382K	probably benign	Het
Cacna1b	A	G	2: 24,544,458 (GRCm39)	S1243P	probably damaging	Het
Cenpp	C	T	13: 49,618,173 (GRCm39)	R244Q	probably benign	Het
Dock2	A	G	11: 34,198,621 (GRCm39)	S1444P	probably damaging	Het
Fmo4	T	C	1: 162,637,417 (GRCm39)	N25S	probably benign	Het
Ipo8	A	T	6: 148,701,711 (GRCm39)	L466I	probably benign	Het
Or5p6	T	C	7: 107,630,822 (GRCm39)	T243A	probably damaging	Het
Pnpla6	T	C	8: 3,572,269 (GRCm39)		probably benign	Het
Prkcb	T	C	7: 122,024,182 (GRCm39)	V69A	possibly damaging	Het
Sars1	G	A	3: 108,338,789 (GRCm39)	L247F	probably damaging	Het
Tanc1	A	T	2: 59,674,228 (GRCm39)	K1778*	probably null	Het
Zkscan3	A	T	13: 21,572,630 (GRCm39)	I167N	probably 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
IGL01573:Slco1a4	APN	6	141,758,577 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AACAGATTCCCCAGCATTGTCTTCC -3'
(R):5'- TGAGTCGTGTCATTGACCCCAAC -3'

Sequencing Primer
(F):5'- CATTGTCTTCCAAAGGACGTTG -3'
(R):5'- CCCAATGGGCTTTGTAGAAAATACTG -3'

Posted On

2013-07-30