Mutagenetix > Incidental Mutation

Incidental Mutation 'R7182:Slco1a1'

559044

Institutional Source

Beutler Lab

Gene Symbol

Slco1a1

Ensembl Gene

ENSMUSG00000041698

Gene Name

solute carrier organic anion transporter family, member 1a1

Synonyms

Oatp1, Slc21a1, Oatp1a1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.303) question?

Stock #

R7182 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141907282-141946962 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 141911839 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 589 (C589S)

Ref Sequence

ENSEMBL: ENSMUSP00000037022 (fasta)

Gene Model

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

AlphaFold

Q9QXZ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000042119
AA Change: C589S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037022
Gene: ENSMUSG00000041698
AA Change: C589S

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 damaging
Transcript: ENSMUST00000168119
AA Change: C589S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132386
Gene: ENSMUSG00000041698
AA Change: C589S

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

Meta Mutation Damage Score

0.9067

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (70/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,849,714	V323A	unknown	Het
AC117241.1	A	G	17: 7,352,688	V158A	unknown	Het
Acadm	A	G	3: 153,941,881		probably null	Het
Adcy10	T	G	1: 165,543,470		probably null	Het
Aldh6a1	C	T	12: 84,441,831	A94T	probably benign	Het
Ano2	T	A	6: 125,790,293	L229Q	probably damaging	Het
Cacna1h	C	T	17: 25,377,655	R1828H	probably damaging	Het
Ccdc33	A	T	9: 58,034,173		probably null	Het
Cep112	A	C	11: 108,682,844	D6A	probably benign	Het
Chd9	T	C	8: 91,006,622	F1373S	unknown	Het
Cog5	T	C	12: 31,685,708	L158P	probably damaging	Het
Col6a3	G	A	1: 90,803,678	Q1618*	probably null	Het
Dlg5	A	G	14: 24,244,856	V3A		Het
Dnah7a	T	A	1: 53,620,461		probably null	Het
Dpp10	A	T	1: 123,341,151	H716Q	probably benign	Het
Epor	A	G	9: 21,963,329	F35L	probably benign	Het
Ergic1	A	T	17: 26,654,882	Y92F		Het
Fam71a	C	T	1: 191,163,351	R365H	probably damaging	Het
Fam98a	G	A	17: 75,539,018	Q273*	probably null	Het
Fhdc1	G	A	3: 84,448,850	T429I	probably damaging	Het
Fmnl2	T	A	2: 53,107,441	L468Q	unknown	Het
Fmnl3	C	T	15: 99,321,782	R695Q	probably damaging	Het
Gabrg2	T	C	11: 41,920,506	M271V	probably damaging	Het
Gk5	G	T	9: 96,119,526	V26L	possibly damaging	Het
Gm14412	A	C	2: 177,315,615	N162K	probably benign	Het
Gm3604	T	C	13: 62,371,875	D22G	probably damaging	Het
Gm5565	G	T	5: 146,158,055	H294N	probably benign	Het
Hsf2	T	A	10: 57,505,176	D287E	possibly damaging	Het
Impdh2	G	A	9: 108,563,208	R231H	possibly damaging	Het
Irak3	T	C	10: 120,166,511	H234R	probably damaging	Het
Lrba	GTTCCCTTC	GTTC	3: 86,741,458		probably null	Het
Lrch3	T	A	16: 32,993,779	D551E	probably benign	Het
Manba	A	T	3: 135,567,513	N736I	probably benign	Het
Map2	A	G	1: 66,412,653	D234G	possibly damaging	Het
Mdk	C	A	2: 91,930,852	K121N	unknown	Het
Mfn1	T	A	3: 32,564,220	L526Q	probably damaging	Het
Mfsd2b	A	G	12: 4,866,157		probably null	Het
Mnat1	G	T	12: 73,230,678	E233*	probably null	Het
Mtmr4	T	C	11: 87,604,605		probably null	Het
Mtrf1	A	G	14: 79,423,464	E432G	possibly damaging	Het
Muc5b	C	T	7: 141,842,645	R165C	unknown	Het
Naip6	T	A	13: 100,316,149	I135F	probably benign	Het
Nod2	A	G	8: 88,663,832	T256A	probably benign	Het
Notch4	T	A	17: 34,583,499	V1298E	probably damaging	Het
Nudc	G	T	4: 133,534,465	D169E	possibly damaging	Het
Obscn	A	T	11: 59,035,101	I5602N	probably damaging	Het
Olfr1468-ps1	G	A	19: 13,375,844	G294E	unknown	Het
Osbpl10	G	A	9: 115,067,251	D18N	probably damaging	Het
Pigk	G	A	3: 152,722,551	V72I	possibly damaging	Het
Prl8a6	C	T	13: 27,437,170	E26K	probably damaging	Het
Prpf8	A	G	11: 75,490,727	Y318C	possibly damaging	Het
Rab13	A	G	3: 90,224,763	D159G	possibly damaging	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Ryr2	T	C	13: 11,759,757	H1171R	probably benign	Het
Scn4a	T	A	11: 106,330,308	I842F	probably benign	Het
Scnm1	A	T	3: 95,133,854	N14K	possibly damaging	Het
Serinc1	A	T	10: 57,524,361	I137N	probably benign	Het
Slc30a3	T	C	5: 31,086,825	Q371R	probably benign	Het
Slc30a3	A	C	5: 31,089,670	M103R	probably damaging	Het
Slco1b2	A	G	6: 141,656,930	Y203C	probably damaging	Het
Spty2d1	A	T	7: 46,998,523	D219E	probably benign	Het
Svep1	A	T	4: 58,043,991	S3552T	probably benign	Het
Tmem62	A	G	2: 121,004,743	I516M	probably benign	Het
Trim61	A	T	8: 65,013,614	S332T	probably damaging	Het
Trmt10b	A	C	4: 45,308,520	T227P	probably benign	Het
Trpc3	T	C	3: 36,655,109	Q406R	probably benign	Het
Ttc30b	A	T	2: 75,937,949	Y153*	probably null	Het
Ush2a	A	T	1: 188,753,543	Y2950F	probably benign	Het
Usp32	C	T	11: 85,040,170	G478D	probably benign	Het
Wdfy3	A	G	5: 101,943,892	L527P	possibly damaging	Het
Wdr73	A	G	7: 80,893,678	V163A	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGATGCAGCTTTCCTCTCC -3'
(R):5'- TCTTCCTCTCAGTGGGCTGG -3'

Sequencing Primer
(F):5'- GGGACTCTAAGCAGATACCTCCTC -3'
(R):5'- CTCAGTGGGCTGGGGTTTTG -3'

Posted On

2019-06-26