Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R4650 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141751166-141801925 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 141758424 bp (GRCm39)

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]

AlphaFold

Q9EP96

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: 88,860,603 (GRCm39)	Y77F	unknown	Het
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
Aldoa	A	G	7: 126,396,879 (GRCm39)	S71P	possibly damaging	Het
Arhgef12	A	G	9: 42,893,266 (GRCm39)	V979A	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Brd8	T	C	18: 34,739,752 (GRCm39)	T674A	probably benign	Het
Cacna1d	C	T	14: 29,817,365 (GRCm39)	M1232I	probably benign	Het
Capza1	A	G	3: 104,752,296 (GRCm39)	V14A	probably damaging	Het
Cdk2	A	T	10: 128,538,364 (GRCm39)	I135N	probably damaging	Het
Celf4	A	T	18: 25,629,302 (GRCm39)	M407K	possibly damaging	Het
Cenpf	A	T	1: 189,392,235 (GRCm39)	D532E	probably benign	Het
Cideb	A	G	14: 55,992,688 (GRCm39)	V76A	possibly damaging	Het
Dbpht2	C	G	12: 74,345,933 (GRCm39)		noncoding transcript	Het
Dis3l2	A	G	1: 86,918,043 (GRCm39)	D550G	possibly damaging	Het
Dnah1	A	T	14: 31,006,844 (GRCm39)		probably null	Het
Edc4	T	A	8: 106,619,307 (GRCm39)	L1293*	probably null	Het
Elp5	A	G	11: 69,860,398 (GRCm39)	V203A	possibly damaging	Het
Fndc7	T	C	3: 108,770,135 (GRCm39)	N597S	probably benign	Het
Gjb3	T	C	4: 127,220,484 (GRCm39)	Y16C	probably damaging	Het
Gm5773	A	G	3: 93,680,712 (GRCm39)	D128G	probably benign	Het
Gnb1l	T	C	16: 18,363,025 (GRCm39)		probably null	Het
Gon4l	G	A	3: 88,770,859 (GRCm39)	D514N	possibly damaging	Het
Grhl3	T	A	4: 135,276,547 (GRCm39)		probably null	Het
Hoxc10	T	C	15: 102,875,698 (GRCm39)	S136P	probably benign	Het
Ift22	G	A	5: 136,940,655 (GRCm39)	V107I	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lamc1	T	G	1: 153,104,523 (GRCm39)	S59R	probably damaging	Het
Lgi4	G	A	7: 30,768,554 (GRCm39)	A518T	probably benign	Het
Lhx2	T	A	2: 38,250,052 (GRCm39)	N290K	probably damaging	Het
Ltbp4	A	T	7: 27,013,734 (GRCm39)	C1092S	probably damaging	Het
Macf1	T	C	4: 123,367,412 (GRCm39)	I2450V	probably benign	Het
Mefv	A	G	16: 3,535,682 (GRCm39)	L82P	probably damaging	Het
Myb	A	G	10: 21,028,840 (GRCm39)	L86P	probably damaging	Het
Myh3	C	T	11: 66,977,270 (GRCm39)	T333M	probably damaging	Het
Nek11	T	C	9: 105,225,279 (GRCm39)	N78D	possibly damaging	Het
Nmi	C	A	2: 51,838,646 (GRCm39)	C296F	probably benign	Het
Nphs1	A	T	7: 30,181,895 (GRCm39)	T1163S	probably benign	Het
Npy4r	C	T	14: 33,868,181 (GRCm39)	G369D	possibly damaging	Het
Ola1	T	C	2: 72,972,309 (GRCm39)	T221A	probably damaging	Het
Or51d1	A	G	7: 102,348,027 (GRCm39)	D194G	probably damaging	Het
Or8c11	T	C	9: 38,289,699 (GRCm39)	F168S	probably damaging	Het
Pfkfb2	A	T	1: 130,633,200 (GRCm39)	N184K	possibly damaging	Het
Plce1	T	C	19: 38,513,088 (GRCm39)	V129A	probably benign	Het
Prps2	T	C	X: 166,135,288 (GRCm39)	D183G	probably damaging	Het
Pth	A	T	7: 112,985,026 (GRCm39)	*116K	probably null	Het
R3hdm1	T	C	1: 128,112,181 (GRCm39)	S422P	probably damaging	Het
Rhox2a	G	C	X: 36,508,962 (GRCm39)	R43P	probably benign	Het
Rwdd3	A	G	3: 120,952,826 (GRCm39)	F55S	probably damaging	Het
Serpinb9d	A	T	13: 33,386,836 (GRCm39)	L301F	probably benign	Het
Slc35e4	A	G	11: 3,862,677 (GRCm39)	C171R	probably damaging	Het
Styk1	A	T	6: 131,277,532 (GRCm39)	W370R	probably damaging	Het
Tmprss11e	C	A	5: 86,875,212 (GRCm39)	W18L	probably damaging	Het
Trpv1	A	C	11: 73,129,089 (GRCm39)	E2A	probably benign	Het
Unc13b	T	A	4: 43,261,035 (GRCm39)	I1799N	probably damaging	Het
Vmn1r213	G	A	13: 23,196,422 (GRCm39)	C335Y	possibly damaging	Het
Vps37c	C	T	19: 10,690,273 (GRCm39)	S245L	probably benign	Het
Wrn	T	C	8: 33,745,537 (GRCm39)	T1191A	probably benign	Het
Zfp13	A	G	17: 23,799,112 (GRCm39)	L153P	probably damaging	Het
Zfp472	T	G	17: 33,196,631 (GRCm39)	S235R	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
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
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
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'- CAGCATTGTCTTCCAAAGGAC -3'
(R):5'- CGTGTCATTGACCCCAACAC -3'

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

Posted On

2015-10-08