Mutagenetix > Incidental Mutations

Incidental Mutation 'R4650:Slco1a4'

351215

Institutional Source

Beutler Lab

Gene Symbol

Slco1a4

Ensembl Gene

ENSMUSG00000030237

Gene Name

solute carrier organic anion transporter family, member 1a4

Synonyms

Oatp2, Oatp1a4, Slc21a5

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R4650 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141805440-141856199 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 141812698 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 529 (I529K)

Ref Sequence

ENSEMBL: ENSMUSP00000130746 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032364
AA Change: I529K

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032364
Gene: ENSMUSG00000030237
AA Change: I529K

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

possibly damaging
Transcript: ENSMUST00000165990
AA Change: I529K

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130746
Gene: ENSMUSG00000030237
AA Change: I529K

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

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110025L11Rik	T	A	16: 89,063,715	Y77F	unknown	Het
4933409G03Rik	G	A	2: 68,606,215	E168K	unknown	Het
Aldoa	A	G	7: 126,797,707	S71P	possibly damaging	Het
Arhgef12	A	G	9: 42,981,970	V979A	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Brd8	T	C	18: 34,606,699	T674A	probably benign	Het
Cacna1d	C	T	14: 30,095,408	M1232I	probably benign	Het
Capza1	A	G	3: 104,844,980	V14A	probably damaging	Het
Cdk2	A	T	10: 128,702,495	I135N	probably damaging	Het
Celf4	A	T	18: 25,496,245	M407K	possibly damaging	Het
Cenpf	A	T	1: 189,660,038	D532E	probably benign	Het
Cideb	A	G	14: 55,755,231	V76A	possibly damaging	Het
Dbpht2	C	G	12: 74,299,159		noncoding transcript	Het
Dis3l2	A	G	1: 86,990,321	D550G	possibly damaging	Het
Dnah1	A	T	14: 31,284,887		probably null	Het
Edc4	T	A	8: 105,892,675	L1293*	probably null	Het
Elp5	A	G	11: 69,969,572	V203A	possibly damaging	Het
Fndc7	T	C	3: 108,862,819	N597S	probably benign	Het
Gjb3	T	C	4: 127,326,691	Y16C	probably damaging	Het
Gm5773	A	G	3: 93,773,405	D128G	probably benign	Het
Gnb1l	T	C	16: 18,544,275		probably null	Het
Gon4l	G	A	3: 88,863,552	D514N	possibly damaging	Het
Grhl3	T	A	4: 135,549,236		probably null	Het
Hoxc10	T	C	15: 102,967,263	S136P	probably benign	Het
Ift22	G	A	5: 136,911,801	V107I	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lamc1	T	G	1: 153,228,777	S59R	probably damaging	Het
Lgi4	G	A	7: 31,069,129	A518T	probably benign	Het
Lhx2	T	A	2: 38,360,040	N290K	probably damaging	Het
Ltbp4	A	T	7: 27,314,309	C1092S	probably damaging	Het
Macf1	T	C	4: 123,473,619	I2450V	probably benign	Het
Mefv	A	G	16: 3,717,818	L82P	probably damaging	Het
Myb	A	G	10: 21,152,941	L86P	probably damaging	Het
Myh3	C	T	11: 67,086,444	T333M	probably damaging	Het
Nek11	T	C	9: 105,348,080	N78D	possibly damaging	Het
Nmi	C	A	2: 51,948,634	C296F	probably benign	Het
Nphs1	A	T	7: 30,482,470	T1163S	probably benign	Het
Npy4r	C	T	14: 34,146,224	G369D	possibly damaging	Het
Ola1	T	C	2: 73,141,965	T221A	probably damaging	Het
Olfr251	T	C	9: 38,378,403	F168S	probably damaging	Het
Olfr557	A	G	7: 102,698,820	D194G	probably damaging	Het
Pfkfb2	A	T	1: 130,705,463	N184K	possibly damaging	Het
Plce1	T	C	19: 38,524,644	V129A	probably benign	Het
Prps2	T	C	X: 167,352,292	D183G	probably damaging	Het
Pth	A	T	7: 113,385,819	*116K	probably null	Het
R3hdm1	T	C	1: 128,184,444	S422P	probably damaging	Het
Rhox2a	G	C	X: 37,245,309	R43P	probably benign	Het
Rwdd3	A	G	3: 121,159,177	F55S	probably damaging	Het
Serpinb9d	A	T	13: 33,202,853	L301F	probably benign	Het
Slc35e4	A	G	11: 3,912,677	C171R	probably damaging	Het
Styk1	A	T	6: 131,300,569	W370R	probably damaging	Het
Tmprss11e	C	A	5: 86,727,353	W18L	probably damaging	Het
Trpv1	A	C	11: 73,238,263	E2A	probably benign	Het
Unc13b	T	A	4: 43,261,035	I1799N	probably damaging	Het
Vmn1r213	G	A	13: 23,012,252	C335Y	possibly damaging	Het
Vps37c	C	T	19: 10,712,909	S245L	probably benign	Het
Wrn	T	C	8: 33,255,509	T1191A	probably benign	Het
Zfp13	A	G	17: 23,580,138	L153P	probably damaging	Het
Zfp472	T	G	17: 32,977,657	S235R	possibly damaging	Het

Other mutations in Slco1a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00976:Slco1a4	APN	6	141807182	critical splice acceptor site	probably null
IGL01573:Slco1a4	APN	6	141812851	splice site	probably benign
IGL01735:Slco1a4	APN	6	141817751	missense	probably benign	0.00
IGL03115:Slco1a4	APN	6	141819603	missense	probably benign	0.05
IGL03115:Slco1a4	APN	6	141817859	missense	probably damaging	1.00
R0062:Slco1a4	UTSW	6	141819479	nonsense	probably null
R0062:Slco1a4	UTSW	6	141819479	nonsense	probably null
R0305:Slco1a4	UTSW	6	141817753	missense	possibly damaging	0.47
R0511:Slco1a4	UTSW	6	141830860	splice site	probably benign
R0660:Slco1a4	UTSW	6	141812741	missense	probably benign	0.05
R0664:Slco1a4	UTSW	6	141812741	missense	probably benign	0.05
R1589:Slco1a4	UTSW	6	141845447	missense	probably benign
R1606:Slco1a4	UTSW	6	141839611	missense	probably damaging	1.00
R1665:Slco1a4	UTSW	6	141839577	missense	possibly damaging	0.79
R1742:Slco1a4	UTSW	6	141825045	missense	probably benign	0.07
R1763:Slco1a4	UTSW	6	141812731	missense	probably benign	0.26
R1893:Slco1a4	UTSW	6	141834616	unclassified	probably null
R1908:Slco1a4	UTSW	6	141815447	critical splice donor site	probably null
R1944:Slco1a4	UTSW	6	141839550	missense	probably benign	0.00
R2144:Slco1a4	UTSW	6	141809378	missense	probably damaging	1.00
R2276:Slco1a4	UTSW	6	141815582	missense	possibly damaging	0.49
R2340:Slco1a4	UTSW	6	141841377	missense	probably benign	0.00
R3017:Slco1a4	UTSW	6	141812670	splice site	probably null
R3769:Slco1a4	UTSW	6	141839631	missense	probably damaging	1.00
R4577:Slco1a4	UTSW	6	141819540	missense	probably damaging	0.97
R4801:Slco1a4	UTSW	6	141845497	start gained	probably benign
R4802:Slco1a4	UTSW	6	141845497	start gained	probably benign
R4896:Slco1a4	UTSW	6	141815505	missense	possibly damaging	0.91
R5126:Slco1a4	UTSW	6	141815582	missense	possibly damaging	0.94
R5183:Slco1a4	UTSW	6	141839631	missense	probably damaging	1.00
R5399:Slco1a4	UTSW	6	141830707	missense	probably damaging	0.98
R5645:Slco1a4	UTSW	6	141834659	missense	possibly damaging	0.95
R5650:Slco1a4	UTSW	6	141809394	missense	possibly damaging	0.69
R5832:Slco1a4	UTSW	6	141819544	missense	probably benign	0.00
R6180:Slco1a4	UTSW	6	141817820	missense	possibly damaging	0.95
R6415:Slco1a4	UTSW	6	141834689	nonsense	probably null
R6992:Slco1a4	UTSW	6	141819604	missense	probably benign	0.05
R7024:Slco1a4	UTSW	6	141834708	missense	probably benign	0.00
R7696:Slco1a4	UTSW	6	141810511	nonsense	probably null
R7751:Slco1a4	UTSW	6	141834687	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- CAGCATTGTCTTCCAAAGGAC -3'
(R):5'- CGTGTCATTGACCCCAACAC -3'

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

Posted On

2015-10-08