Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02183:Slco1a1'

284342

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slco1a1

Ensembl Gene

ENSMUSG00000041698

Gene Name

solute carrier organic anion transporter family, member 1a1

Synonyms

Oatp1, Slc21a1, Oatp1a1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.347) question?

Stock #

IGL02183

Quality Score

Status

Chromosome

Chromosomal Location

141907282-141946962 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 141921943 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132386 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042119] [ENSMUST00000168119]

AlphaFold

Q9QXZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000042119

SMART Domains

Protein: ENSMUSP00000037022
Gene: ENSMUSG00000041698

Domain	Start	End	E-Value	Type
Pfam:OATP	21	597	6e-168	PFAM
Pfam:MFS_1	22	410	4.7e-28	PFAM
Pfam:Kazal_2	445	486	1.2e-10	PFAM
transmembrane domain	600	622	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168119

SMART Domains

Protein: ENSMUSP00000132386
Gene: ENSMUSG00000041698

Domain	Start	End	E-Value	Type
Pfam:OATP	21	597	1.6e-168	PFAM
Pfam:MFS_1	22	410	1e-27	PFAM
Pfam:Kazal_2	445	486	4.6e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171651

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	G	A	1: 37,625,378	P480S	possibly damaging	Het
Ace2	T	A	X: 164,177,469		probably benign	Het
Acsm4	A	T	7: 119,693,852		probably null	Het
Apcdd1	T	C	18: 62,951,854	M374T	probably damaging	Het
Arid4b	A	G	13: 14,169,990	E551G	possibly damaging	Het
Bag4	A	T	8: 25,768,030	L423Q	probably damaging	Het
Celf1	C	T	2: 91,001,486	P96S	probably damaging	Het
Cry2	G	A	2: 92,413,039	R486W	probably damaging	Het
Csn1s1	G	A	5: 87,677,618	S228N	possibly damaging	Het
Ctnnd2	A	G	15: 31,020,740	Y1124C	probably damaging	Het
Cyp2j7	T	C	4: 96,230,147		probably benign	Het
Dock7	A	T	4: 98,958,991	C1695S	possibly damaging	Het
Elmo3	T	C	8: 105,308,323	L415P	probably benign	Het
Entpd5	A	G	12: 84,380,380		probably benign	Het
Gm7534	A	G	4: 134,201,980	L338S	probably benign	Het
Gpatch11	T	C	17: 78,842,231		probably null	Het
Gprin3	C	A	6: 59,353,162	R720I	possibly damaging	Het
Gria4	T	G	9: 4,502,460	T358P	probably damaging	Het
Hcn2	T	C	10: 79,724,813		probably null	Het
Hivep3	A	G	4: 120,132,024	T1891A	probably benign	Het
Hmgcr	A	G	13: 96,663,127	V153A	probably damaging	Het
Ifnar1	T	C	16: 91,505,146	V503A	possibly damaging	Het
Igf2r	G	A	17: 12,698,516		probably benign	Het
Ighg2b	A	G	12: 113,307,829	S35P	unknown	Het
Jmy	T	C	13: 93,499,242	D22G	possibly damaging	Het
Kdm5b	T	C	1: 134,624,931	I1215T	probably benign	Het
Krt84	T	C	15: 101,532,356	I134V	unknown	Het
Magi3	T	A	3: 104,085,347	M270L	probably benign	Het
Maneal	G	A	4: 124,860,416	T198I	probably benign	Het
Map7d3	A	G	X: 56,822,231		probably benign	Het
Myh7	T	A	14: 54,974,731	T1519S	probably benign	Het
Myo5a	T	C	9: 75,167,236		probably benign	Het
Naip5	T	C	13: 100,221,642	S1029G	probably benign	Het
Olfr1162	T	C	2: 88,049,989	T212A	possibly damaging	Het
Olfr1205	A	T	2: 88,832,028	I304F	probably benign	Het
Olfr125	G	T	17: 37,835,413	C138F	probably damaging	Het
Olfr1279	T	A	2: 111,306,418	V71E	probably damaging	Het
Olfr178	T	A	16: 58,889,821	Q133L	probably benign	Het
Pald1	A	T	10: 61,347,141		probably benign	Het
Pan2	T	A	10: 128,309,075	H230Q	possibly damaging	Het
Pcdh9	T	C	14: 93,886,284	I817V	probably benign	Het
Piezo2	A	G	18: 63,020,634	S2547P	probably benign	Het
Ppargc1b	T	A	18: 61,309,096		probably null	Het
Prdm6	T	C	18: 53,464,677		probably benign	Het
Prr5l	A	T	2: 101,772,120		probably benign	Het
Rab3gap2	T	A	1: 185,271,468	L1020*	probably null	Het
Rhbdf1	T	C	11: 32,210,543	H669R	probably damaging	Het
Rnf150	A	T	8: 83,003,605	I255F	probably damaging	Het
Rnf17	T	A	14: 56,507,868	D1360E	probably null	Het
Sag	T	C	1: 87,828,475		probably null	Het
Scn2a	C	T	2: 65,671,603	T90I	probably benign	Het
Scn9a	T	A	2: 66,484,611		probably benign	Het
Serpinb13	T	C	1: 106,998,910	M212T	probably damaging	Het
Slc39a14	C	T	14: 70,306,685	G484E	possibly damaging	Het
Slitrk3	A	T	3: 73,049,979	Y487N	probably damaging	Het
Stkld1	T	C	2: 26,946,659	M279T	probably benign	Het
Tmem161b	T	C	13: 84,272,254	Y125H	probably damaging	Het
Tmem71	A	G	15: 66,555,025		probably benign	Het
Ubxn7	T	C	16: 32,369,383	F142L	probably damaging	Het
Vmn2r22	A	G	6: 123,638,004	L209P	probably damaging	Het
Wdr73	A	T	7: 80,893,760	W136R	probably damaging	Het
Wif1	C	T	10: 121,075,276	R107C	probably damaging	Het
Ythdf2	G	T	4: 132,205,574	L92M	probably benign	Het
Zfp53	T	A	17: 21,500,250	I34N	possibly damaging	Het

Other mutations in Slco1a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Slco1a1	APN	6	141909125	missense	probably damaging	0.98
IGL00942:Slco1a1	APN	6	141946628	missense	probably benign	0.00
IGL01301:Slco1a1	APN	6	141932530	splice site	probably benign
IGL01306:Slco1a1	APN	6	141946587	nonsense	probably null
IGL01774:Slco1a1	APN	6	141925613	nonsense	probably null
IGL02097:Slco1a1	APN	6	141940039	missense	possibly damaging	0.94
IGL02376:Slco1a1	APN	6	141924334	critical splice donor site	probably null
IGL02550:Slco1a1	APN	6	141943465	missense	probably benign	0.24
IGL02559:Slco1a1	APN	6	141921788	missense	probably benign	0.01
IGL02825:Slco1a1	APN	6	141918617	missense	probably damaging	1.00
IGL03352:Slco1a1	APN	6	141911885	missense	probably benign	0.00
ANU23:Slco1a1	UTSW	6	141946587	nonsense	probably null
R0041:Slco1a1	UTSW	6	141918459	splice site	probably benign
R0153:Slco1a1	UTSW	6	141910701	splice site	probably benign
R0610:Slco1a1	UTSW	6	141918461	critical splice donor site	probably null
R0646:Slco1a1	UTSW	6	141925754	splice site	probably benign
R0828:Slco1a1	UTSW	6	141921839	missense	possibly damaging	0.89
R1674:Slco1a1	UTSW	6	141935935	missense	probably damaging	0.99
R1848:Slco1a1	UTSW	6	141923111	missense	probably benign	0.29
R3834:Slco1a1	UTSW	6	141943437	missense	possibly damaging	0.94
R3953:Slco1a1	UTSW	6	141923107	missense	probably damaging	1.00
R3974:Slco1a1	UTSW	6	141909093	missense	probably benign	0.01
R4081:Slco1a1	UTSW	6	141935962	missense	probably damaging	0.99
R4729:Slco1a1	UTSW	6	141908969	missense	probably benign	0.00
R4752:Slco1a1	UTSW	6	141946614	missense	possibly damaging	0.80
R4806:Slco1a1	UTSW	6	141909009	missense	possibly damaging	0.76
R4812:Slco1a1	UTSW	6	141918593	missense	probably damaging	1.00
R4963:Slco1a1	UTSW	6	141923099	missense	probably benign	0.26
R5641:Slco1a1	UTSW	6	141939969	missense	probably damaging	1.00
R6044:Slco1a1	UTSW	6	141940017	missense	probably benign	0.01
R6211:Slco1a1	UTSW	6	141909049	missense	probably benign	0.20
R6225:Slco1a1	UTSW	6	141924489	missense	possibly damaging	0.70
R6328:Slco1a1	UTSW	6	141932450	missense	probably damaging	1.00
R6428:Slco1a1	UTSW	6	141925690	missense	probably damaging	1.00
R6787:Slco1a1	UTSW	6	141936487	missense	probably benign	0.00
R7182:Slco1a1	UTSW	6	141911839	missense	probably damaging	1.00
R7305:Slco1a1	UTSW	6	141924497	missense	probably damaging	1.00
R7328:Slco1a1	UTSW	6	141936408	missense	possibly damaging	0.94
R7723:Slco1a1	UTSW	6	141909069	missense	probably damaging	0.97
R7784:Slco1a1	UTSW	6	141943388	missense	probably damaging	0.99
R8348:Slco1a1	UTSW	6	141940061	missense	possibly damaging	0.79
R8448:Slco1a1	UTSW	6	141940061	missense	possibly damaging	0.79
R8856:Slco1a1	UTSW	6	141911898	missense	probably damaging	1.00
R9121:Slco1a1	UTSW	6	141946816	unclassified	probably benign
R9484:Slco1a1	UTSW	6	141908946	missense	probably benign	0.00
Z1177:Slco1a1	UTSW	6	141940018	missense	probably benign	0.01

Posted On

2015-04-16