Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02097:Slco1a1'

279607

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?

Probably non essential (E-score: 0.205) question?

Stock #

IGL02097

Quality Score

Status

Chromosome

Chromosomal Location

141907282-141946962 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 141940039 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 87 (I87F)

Ref Sequence

ENSEMBL: ENSMUSP00000037022 (fasta)

Gene Model

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

AlphaFold

Q9QXZ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042119
AA Change: I87F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037022
Gene: ENSMUSG00000041698
AA Change: I87F

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

possibly damaging
Transcript: ENSMUST00000168119
AA Change: I87F

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132386
Gene: ENSMUSG00000041698
AA Change: I87F

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	T	5: 104,961,186	V415D	possibly damaging	Het
Adcy3	C	T	12: 4,212,118	A1056V	probably damaging	Het
Adcy5	G	A	16: 35,272,098	A610T	probably damaging	Het
Arhgap21	G	A	2: 20,880,002	T788I	probably benign	Het
Asic1	T	C	15: 99,694,686		probably benign	Het
Cdhr4	T	A	9: 107,993,000	M68K	probably benign	Het
Cdhr5	G	T	7: 141,269,981	T637K	probably damaging	Het
Corin	A	T	5: 72,372,146	C289S	probably damaging	Het
Cpne4	T	C	9: 104,686,502	V26A	probably damaging	Het
Csmd1	T	C	8: 16,211,759	D908G	probably null	Het
Cyp2c29	A	G	19: 39,307,620	D126G	probably damaging	Het
Ddx42	G	A	11: 106,239,160	S426N	probably benign	Het
Dnah1	C	T	14: 31,305,001	V689M	possibly damaging	Het
Dtwd1	A	G	2: 126,164,795	T246A	probably damaging	Het
Fbn1	A	T	2: 125,363,969	M1036K	probably damaging	Het
Fbxo10	T	C	4: 45,048,527	N536S	probably benign	Het
Gnal	G	A	18: 67,217,208		probably benign	Het
Gns	A	G	10: 121,390,693	T416A	probably benign	Het
Heatr5b	G	A	17: 78,817,514	T603I	probably damaging	Het
Hsp90b1	T	A	10: 86,691,684		probably benign	Het
Krt23	C	T	11: 99,493,010	G19R	probably benign	Het
Lama2	C	T	10: 27,138,960	R1584H	probably benign	Het
Lmbr1l	C	T	15: 98,917,891	V11M	probably damaging	Het
Man1a2	T	C	3: 100,582,131	K511E	possibly damaging	Het
Mrgpra3	C	A	7: 47,589,456	V241F	possibly damaging	Het
Myh3	A	G	11: 67,082,924	D141G	probably benign	Het
Mylk2	G	A	2: 152,915,136	C277Y	probably damaging	Het
Myo3b	A	T	2: 70,238,829	T471S	probably damaging	Het
Naip1	A	G	13: 100,425,588	V1023A	probably benign	Het
Olfm5	T	A	7: 104,154,231	T342S	probably benign	Het
Olfr1510	A	G	14: 52,410,054	F273L	probably benign	Het
Olfr38	T	A	6: 42,762,460	M136K	probably damaging	Het
Pglyrp4	T	C	3: 90,735,603	F263L	probably benign	Het
Plekhh2	A	T	17: 84,599,180	T1148S	possibly damaging	Het
Prrc2b	T	C	2: 32,191,501		probably benign	Het
Rbm28	G	T	6: 29,138,618	D398E	possibly damaging	Het
Rnf220	A	G	4: 117,273,327	F234L	probably benign	Het
Sele	T	C	1: 164,053,093	S415P	probably benign	Het
Shpk	T	C	11: 73,203,995	L79P	probably damaging	Het
Slc35f4	C	T	14: 49,306,246	A148T	probably damaging	Het
Slc6a20a	G	A	9: 123,660,619	P120S	possibly damaging	Het
Slc8a2	A	G	7: 16,157,156	E701G	possibly damaging	Het
Srebf1	T	G	11: 60,202,824	D739A	probably damaging	Het
Thg1l	A	G	11: 45,950,228	Y175H	probably benign	Het
Traf3ip2	G	A	10: 39,654,479	V540M	probably damaging	Het
Wdr48	A	G	9: 119,924,263	D644G	probably damaging	Het
Zbtb1	A	T	12: 76,386,597	K452N	probably damaging	Het
Zfhx2	C	T	14: 55,062,894	G2467R	probably damaging	Het
Zfp334	A	T	2: 165,381,723	Y133*	probably null	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
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
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