Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02559:Slco1a1'

298601

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: 0.251) question?

Stock #

IGL02559

Quality Score

Status

Chromosome

Chromosomal Location

141907282-141946962 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 141921788 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 473 (V473D)

Ref Sequence

ENSEMBL: ENSMUSP00000132386 (fasta)

Gene Model

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

AlphaFold

Q9QXZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000042119
AA Change: V473D

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000037022
Gene: ENSMUSG00000041698
AA Change: V473D

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
AA Change: V473D

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000132386
Gene: ENSMUSG00000041698
AA Change: V473D

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,687,070	Q1004*	probably null	Het
Bahcc1	A	G	11: 120,285,172	D1914G	probably damaging	Het
Bcl11b	A	T	12: 107,915,394		probably benign	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Col24a1	A	T	3: 145,314,173	I102F	probably benign	Het
Col7a1	C	T	9: 108,973,216	R2063C	unknown	Het
Ddo	T	A	10: 40,647,521	L169Q	probably damaging	Het
Defb4	G	T	8: 19,201,297	C60F	probably damaging	Het
Dock9	A	T	14: 121,625,147		probably benign	Het
Dysf	A	T	6: 84,067,446		probably benign	Het
Fasn	G	A	11: 120,809,066	A2253V	possibly damaging	Het
Fbxw26	T	C	9: 109,722,164	D355G	probably benign	Het
Gak	C	T	5: 108,584,232	E797K	probably null	Het
Gm10654	T	C	8: 70,932,130		noncoding transcript	Het
Gnas	T	C	2: 174,341,936		probably benign	Het
Hdac3	A	G	18: 37,954,891	F8S	probably damaging	Het
Hist1h2bj	T	A	13: 22,043,363	V45E	possibly damaging	Het
Hrh4	T	C	18: 13,007,244		probably null	Het
Klhl1	A	G	14: 96,151,960	V586A	possibly damaging	Het
Lct	T	C	1: 128,294,266	N1512S	probably damaging	Het
Mmp28	G	T	11: 83,447,740	N128K	probably benign	Het
Mndal	T	C	1: 173,872,920	T162A	probably benign	Het
Myh3	A	G	11: 67,101,095	E1822G	possibly damaging	Het
Mylpf	A	G	7: 127,214,143	Y133C	probably damaging	Het
Nup210l	G	A	3: 90,159,953	A767T	probably benign	Het
Olfr1404	T	C	1: 173,216,521	V290A	probably damaging	Het
Olfr221	A	G	14: 52,036,007	Y35H	probably damaging	Het
Olfr666	T	A	7: 104,892,954	R225W	probably benign	Het
Paics	A	G	5: 76,964,604	I312V	possibly damaging	Het
Pkdrej	G	T	15: 85,817,848	Q1296K	probably benign	Het
Ppil2	T	C	16: 17,109,651	K26E	possibly damaging	Het
Rufy1	A	G	11: 50,420,483	F170L	probably damaging	Het
Shcbp1	T	A	8: 4,749,305	E93V	probably damaging	Het
Slamf1	T	A	1: 171,767,258	I11K	possibly damaging	Het
Slc5a5	C	T	8: 70,890,271	G215D	probably damaging	Het
Slit1	A	G	19: 41,721,085	V123A	probably benign	Het
Srgap2	A	C	1: 131,524,936		probably null	Het
Stk32c	T	C	7: 139,120,690	M208V	probably benign	Het
Syt15	T	C	14: 34,221,803	V103A	probably benign	Het
Tacc2	T	A	7: 130,759,267	L456Q	probably damaging	Het
Tanc1	A	G	2: 59,724,654		probably benign	Het
Tepsin	G	T	11: 120,096,905	D62E	probably benign	Het
Thap3	T	C	4: 151,983,687	D106G	probably benign	Het
Ttn	T	C	2: 76,786,217	D14818G	probably damaging	Het
Txndc2	T	C	17: 65,639,590	N39S	possibly damaging	Het
Ubxn11	A	G	4: 134,124,943	E200G	probably damaging	Het
Vmn2r11	T	G	5: 109,052,180	Q469P	probably damaging	Het
Yipf2	T	C	9: 21,592,186	T22A	probably 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
IGL02183:Slco1a1	APN	6	141921943	splice site	probably benign
IGL02376:Slco1a1	APN	6	141924334	critical splice donor site	probably null
IGL02550:Slco1a1	APN	6	141943465	missense	probably benign	0.24
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