Mutagenetix > Incidental Mutation

Incidental Mutation 'R4812:Slco1a1'

369542

Institutional Source

Beutler Lab

Gene Symbol

Slco1a1

Ensembl Gene

ENSMUSG00000041698

Gene Name

solute carrier organic anion transporter family, member 1a1

Synonyms

Slc21a1, Oatp1a1, Oatp1

MMRRC Submission

042431-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.270) question?

Stock #

R4812 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141853008-141892688 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141864319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 494 (S494P)

Ref Sequence

ENSEMBL: ENSMUSP00000132386 (fasta)

Gene Model

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

AlphaFold

Q9QXZ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000042119
AA Change: S494P

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

SMART Domains

Protein: ENSMUSP00000037022
Gene: ENSMUSG00000041698
AA Change: S494P

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

noncoding transcript
Transcript: ENSMUST00000157279

Predicted Effect

probably damaging
Transcript: ENSMUST00000168119
AA Change: S494P

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

SMART Domains

Protein: ENSMUSP00000132386
Gene: ENSMUSG00000041698
AA Change: S494P

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

Meta Mutation Damage Score

0.4378

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

93% (124/133)

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: 128 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017G19Rik	C	T	3: 40,575,633 (GRCm39)		noncoding transcript	Het
Abca5	T	C	11: 110,192,647 (GRCm39)	D681G	probably damaging	Het
Actl11	T	C	9: 107,808,329 (GRCm39)	V884A	probably damaging	Het
Akr1c14	G	A	13: 4,129,165 (GRCm39)	V187M	probably damaging	Het
Apbb1	A	T	7: 105,223,232 (GRCm39)	N126K	probably damaging	Het
Bmt2	G	T	6: 13,677,799 (GRCm39)	R12S	unknown	Het
Btrc	G	A	19: 45,411,603 (GRCm39)	C9Y	possibly damaging	Het
C5ar1	A	C	7: 15,982,258 (GRCm39)		probably null	Het
C8a	C	T	4: 104,719,788 (GRCm39)		probably null	Het
Cabin1	A	G	10: 75,482,428 (GRCm39)	S2172P	possibly damaging	Het
Calcoco2	T	C	11: 95,998,276 (GRCm39)	D49G	probably damaging	Het
Camta1	C	T	4: 151,215,999 (GRCm39)	D974N	probably null	Het
Car6	T	C	4: 150,281,872 (GRCm39)	E47G	probably damaging	Het
Ccnd3	G	A	17: 47,908,505 (GRCm39)		probably null	Het
Celf5	A	T	10: 81,306,573 (GRCm39)	V30E	probably damaging	Het
Cfap251	G	A	5: 123,425,368 (GRCm39)	V776I	probably benign	Het
Cfap46	T	A	7: 139,215,916 (GRCm39)	D1513V	probably damaging	Het
Cinp	T	C	12: 110,846,174 (GRCm39)	Y84C	probably damaging	Het
Cnih1	A	G	14: 47,014,001 (GRCm39)	I154T	probably damaging	Het
Col15a1	C	T	4: 47,262,479 (GRCm39)	P511L	possibly damaging	Het
Col4a4	C	T	1: 82,439,874 (GRCm39)	V1364M	unknown	Het
Cplane1	T	G	15: 8,230,607 (GRCm39)		probably null	Het
Crtam	A	G	9: 40,895,621 (GRCm39)	L38P	probably damaging	Het
Ctnna1	T	A	18: 35,372,530 (GRCm39)	V495D	probably damaging	Het
Cubn	T	C	2: 13,463,887 (GRCm39)	Y606C	probably damaging	Het
Cyp4f16	C	T	17: 32,765,652 (GRCm39)	A345V	probably null	Het
Dctn1	A	T	6: 83,166,919 (GRCm39)	M160L	probably benign	Het
Dip2c	T	A	13: 9,687,166 (GRCm39)	C366*	probably null	Het
Dnajc2	G	A	5: 21,968,484 (GRCm39)	S401L	probably benign	Het
Dnmt3l	A	G	10: 77,893,128 (GRCm39)	I302V	probably benign	Het
Dvl2	T	C	11: 69,902,119 (GRCm39)		probably benign	Het
Edn1	T	G	13: 42,457,116 (GRCm39)	S50A	probably benign	Het
Efhc1	A	T	1: 21,060,871 (GRCm39)	R636W	probably damaging	Het
Epg5	T	A	18: 78,022,399 (GRCm39)	H1047Q	probably benign	Het
Etv1	T	G	12: 38,911,287 (GRCm39)	V371G	probably damaging	Het
Fap	T	A	2: 62,349,365 (GRCm39)	I475F	probably damaging	Het
Fbxw15	T	C	9: 109,388,990 (GRCm39)	I140V	probably benign	Het
Fer	A	G	17: 64,241,292 (GRCm39)	T311A	probably benign	Het
Fh1	A	G	1: 175,429,025 (GRCm39)	W497R	probably damaging	Het
Flot2	T	A	11: 77,944,191 (GRCm39)	L45Q	probably damaging	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Fmnl1	T	C	11: 103,089,390 (GRCm39)		probably benign	Het
Garin5b	G	A	7: 4,762,071 (GRCm39)	T295M	probably damaging	Het
Ggta1	C	T	2: 35,292,735 (GRCm39)	V203I	probably benign	Het
Gm19345	C	T	7: 19,591,798 (GRCm39)	V204M	probably damaging	Het
Gm4204	T	A	1: 135,160,227 (GRCm39)		noncoding transcript	Het
Gm6124	C	G	7: 38,872,319 (GRCm39)		noncoding transcript	Het
Gprin3	T	A	6: 59,330,350 (GRCm39)	K652N	possibly damaging	Het
Gucy1b2	T	C	14: 62,653,346 (GRCm39)		probably null	Het
Hace1	C	A	10: 45,562,699 (GRCm39)	A738E	probably benign	Het
Hectd1	C	T	12: 51,874,134 (GRCm39)		probably null	Het
Hnrnpdl	T	C	5: 100,184,331 (GRCm39)		probably benign	Het
Hyou1	T	C	9: 44,298,418 (GRCm39)		probably benign	Het
Ifi44l	G	A	3: 151,465,336 (GRCm39)	A138V	probably benign	Het
Igkv16-104	A	T	6: 68,402,829 (GRCm39)	I41F	possibly damaging	Het
Ints7	T	A	1: 191,326,542 (GRCm39)	D171E	possibly damaging	Het
Irag2	G	A	6: 145,093,737 (GRCm39)	G120S	probably damaging	Het
Kmt2a	A	T	9: 44,742,651 (GRCm39)		probably benign	Het
Kmt2e	T	C	5: 23,707,585 (GRCm39)	V1716A	possibly damaging	Het
Krtap5-1	G	A	7: 141,850,628 (GRCm39)	S60F	unknown	Het
Lama4	G	A	10: 38,948,765 (GRCm39)	V843I	probably benign	Het
Laptm5	A	G	4: 130,640,749 (GRCm39)		probably null	Het
Lbhd1	G	A	19: 8,866,538 (GRCm39)	A193T	probably damaging	Het
Lce3f	C	T	3: 92,900,247 (GRCm39)	P23S	unknown	Het
Mecom	A	C	3: 30,194,517 (GRCm39)	M1R	probably null	Het
Mindy4	A	C	6: 55,256,088 (GRCm39)	T531P	possibly damaging	Het
Mrpl3	A	G	9: 104,951,023 (GRCm39)	N263S	probably damaging	Het
Myo18b	T	C	5: 112,957,584 (GRCm39)	K1460E	possibly damaging	Het
Myof	A	G	19: 37,905,007 (GRCm39)	Y852H	probably damaging	Het
Nefl	T	G	14: 68,321,734 (GRCm39)	V108G	probably damaging	Het
Nid1	T	A	13: 13,681,053 (GRCm39)	L1061*	probably null	Het
Nim1k	T	A	13: 120,173,920 (GRCm39)	M325L	probably benign	Het
Nlrp1c-ps	T	C	11: 71,143,131 (GRCm39)		noncoding transcript	Het
Npsr1	C	T	9: 24,201,252 (GRCm39)	T59I	probably damaging	Het
Nr2c1	A	G	10: 94,024,114 (GRCm39)	T440A	probably benign	Het
Nup160	C	T	2: 90,556,035 (GRCm39)	T1245I	probably damaging	Het
Nup88	T	A	11: 70,856,552 (GRCm39)	T194S	probably damaging	Het
Oas3	A	G	5: 120,899,212 (GRCm39)		probably benign	Het
Odad2	T	G	18: 7,288,634 (GRCm39)	T78P	possibly damaging	Het
Opn1sw	A	T	6: 29,378,038 (GRCm39)	M252K	probably damaging	Het
Oprm1	T	G	10: 6,782,698 (GRCm39)		probably benign	Het
Or10ag59	A	G	2: 87,406,087 (GRCm39)	I220V	probably benign	Het
Or2y1g	T	A	11: 49,171,284 (GRCm39)	I103K	possibly damaging	Het
Or4x13	T	A	2: 90,231,440 (GRCm39)	M145K	probably benign	Het
Pcdha2	T	A	18: 37,072,861 (GRCm39)	V164E	probably benign	Het
Pclo	A	G	5: 14,590,039 (GRCm39)	T780A	unknown	Het
Pcnx2	T	A	8: 126,592,678 (GRCm39)	Q762L	probably benign	Het
Pcyt2	A	T	11: 120,505,251 (GRCm39)		probably benign	Het
Pdpr	A	G	8: 111,843,349 (GRCm39)	N294D	probably benign	Het
Perm1	T	A	4: 156,303,193 (GRCm39)	V579E	possibly damaging	Het
Pgk2	T	A	17: 40,518,281 (GRCm39)	K382N	possibly damaging	Het
Plcb4	T	A	2: 135,849,801 (GRCm39)	L205Q	probably damaging	Het
Plekha3	C	T	2: 76,516,975 (GRCm39)	T109I	probably damaging	Het
Pnn	T	A	12: 59,118,404 (GRCm39)	V329E	possibly damaging	Het
Ptpn13	A	G	5: 103,671,481 (GRCm39)	I469M	probably benign	Het
Rapgef3	A	G	15: 97,651,684 (GRCm39)	V603A	probably benign	Het
Rbms1	C	T	2: 60,623,113 (GRCm39)	V75I	possibly damaging	Het
Rbp3	T	A	14: 33,676,731 (GRCm39)	D226E	probably damaging	Het
Robo2	A	T	16: 73,713,176 (GRCm39)	N1189K	probably benign	Het
Rragd	A	G	4: 33,018,766 (GRCm39)	T270A	probably benign	Het
Rxfp1	T	A	3: 79,557,889 (GRCm39)	T530S	probably benign	Het
Ryr3	T	C	2: 112,742,581 (GRCm39)	E479G	probably damaging	Het
Scd2	A	T	19: 44,289,841 (GRCm39)	I279F	probably damaging	Het
Sh3d19	A	T	3: 86,031,074 (GRCm39)	D746V	probably damaging	Het
Shroom4	A	G	X: 6,536,180 (GRCm39)	K1133E	probably benign	Het
Sirpb1c	A	G	3: 15,887,386 (GRCm39)	V151A	probably damaging	Het
Slc26a2	A	T	18: 61,335,093 (GRCm39)	I120N	probably damaging	Het
Srebf2	A	T	15: 82,088,026 (GRCm39)	T1061S	probably damaging	Het
Sspo	T	C	6: 48,467,444 (GRCm39)	L4202P	probably benign	Het
Synj2	G	A	17: 6,060,939 (GRCm39)	G215E	probably damaging	Het
Tbc1d19	T	C	5: 53,967,148 (GRCm39)	V16A	probably damaging	Het
Tektl1	T	C	10: 78,585,050 (GRCm39)	H262R	probably benign	Het
Tiparp	T	C	3: 65,460,190 (GRCm39)	I495T	possibly damaging	Het
Tipin	A	G	9: 64,211,694 (GRCm39)	H260R	probably benign	Het
Tle1	A	G	4: 72,063,591 (GRCm39)	S221P	probably damaging	Het
Tmem94	T	A	11: 115,686,938 (GRCm39)	L1101*	probably null	Het
Trim43b	C	T	9: 88,973,533 (GRCm39)	D67N	probably benign	Het
Ubn2	T	A	6: 38,440,661 (GRCm39)	C178S	probably benign	Het
Vmn1r54	T	C	6: 90,246,307 (GRCm39)	F74L	probably benign	Het
Vmn2r24	A	G	6: 123,756,144 (GRCm39)	H72R	probably benign	Het
Wnk1	C	T	6: 119,929,732 (GRCm39)	V850I	probably benign	Het
Zan	T	G	5: 137,454,547 (GRCm39)	Y1419S	unknown	Het
Zbtb14	T	A	17: 69,694,577 (GRCm39)	Y92N	probably damaging	Het
Zfand5	A	G	19: 21,255,101 (GRCm39)	K116E	probably benign	Het
Zfhx3	A	G	8: 109,674,593 (GRCm39)	E1881G	possibly damaging	Het
Zfp280b	A	G	10: 75,874,924 (GRCm39)	K268E	probably benign	Het
Zfp541	A	G	7: 15,813,035 (GRCm39)	I563V	probably benign	Het
Zfy2	T	A	Y: 2,106,334 (GRCm39)	I767L	probably benign	Het

Other mutations in Slco1a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Slco1a1	APN	6	141,854,851 (GRCm39)	missense	probably damaging	0.98
IGL00942:Slco1a1	APN	6	141,892,354 (GRCm39)	missense	probably benign	0.00
IGL01301:Slco1a1	APN	6	141,878,256 (GRCm39)	splice site	probably benign
IGL01306:Slco1a1	APN	6	141,892,313 (GRCm39)	nonsense	probably null
IGL01774:Slco1a1	APN	6	141,871,339 (GRCm39)	nonsense	probably null
IGL02097:Slco1a1	APN	6	141,885,765 (GRCm39)	missense	possibly damaging	0.94
IGL02183:Slco1a1	APN	6	141,867,669 (GRCm39)	splice site	probably benign
IGL02376:Slco1a1	APN	6	141,870,060 (GRCm39)	critical splice donor site	probably null
IGL02550:Slco1a1	APN	6	141,889,191 (GRCm39)	missense	probably benign	0.24
IGL02559:Slco1a1	APN	6	141,867,514 (GRCm39)	missense	probably benign	0.01
IGL02825:Slco1a1	APN	6	141,864,343 (GRCm39)	missense	probably damaging	1.00
IGL03352:Slco1a1	APN	6	141,857,611 (GRCm39)	missense	probably benign	0.00
ANU23:Slco1a1	UTSW	6	141,892,313 (GRCm39)	nonsense	probably null
R0041:Slco1a1	UTSW	6	141,864,185 (GRCm39)	splice site	probably benign
R0153:Slco1a1	UTSW	6	141,856,427 (GRCm39)	splice site	probably benign
R0610:Slco1a1	UTSW	6	141,864,187 (GRCm39)	critical splice donor site	probably null
R0646:Slco1a1	UTSW	6	141,871,480 (GRCm39)	splice site	probably benign
R0828:Slco1a1	UTSW	6	141,867,565 (GRCm39)	missense	possibly damaging	0.89
R1674:Slco1a1	UTSW	6	141,881,661 (GRCm39)	missense	probably damaging	0.99
R1848:Slco1a1	UTSW	6	141,868,837 (GRCm39)	missense	probably benign	0.29
R3834:Slco1a1	UTSW	6	141,889,163 (GRCm39)	missense	possibly damaging	0.94
R3953:Slco1a1	UTSW	6	141,868,833 (GRCm39)	missense	probably damaging	1.00
R3974:Slco1a1	UTSW	6	141,854,819 (GRCm39)	missense	probably benign	0.01
R4081:Slco1a1	UTSW	6	141,881,688 (GRCm39)	missense	probably damaging	0.99
R4729:Slco1a1	UTSW	6	141,854,695 (GRCm39)	missense	probably benign	0.00
R4752:Slco1a1	UTSW	6	141,892,340 (GRCm39)	missense	possibly damaging	0.80
R4806:Slco1a1	UTSW	6	141,854,735 (GRCm39)	missense	possibly damaging	0.76
R4963:Slco1a1	UTSW	6	141,868,825 (GRCm39)	missense	probably benign	0.26
R5641:Slco1a1	UTSW	6	141,885,695 (GRCm39)	missense	probably damaging	1.00
R6044:Slco1a1	UTSW	6	141,885,743 (GRCm39)	missense	probably benign	0.01
R6211:Slco1a1	UTSW	6	141,854,775 (GRCm39)	missense	probably benign	0.20
R6225:Slco1a1	UTSW	6	141,870,215 (GRCm39)	missense	possibly damaging	0.70
R6328:Slco1a1	UTSW	6	141,878,176 (GRCm39)	missense	probably damaging	1.00
R6428:Slco1a1	UTSW	6	141,871,416 (GRCm39)	missense	probably damaging	1.00
R6787:Slco1a1	UTSW	6	141,882,213 (GRCm39)	missense	probably benign	0.00
R7182:Slco1a1	UTSW	6	141,857,565 (GRCm39)	missense	probably damaging	1.00
R7305:Slco1a1	UTSW	6	141,870,223 (GRCm39)	missense	probably damaging	1.00
R7328:Slco1a1	UTSW	6	141,882,134 (GRCm39)	missense	possibly damaging	0.94
R7723:Slco1a1	UTSW	6	141,854,795 (GRCm39)	missense	probably damaging	0.97
R7784:Slco1a1	UTSW	6	141,889,114 (GRCm39)	missense	probably damaging	0.99
R8348:Slco1a1	UTSW	6	141,885,787 (GRCm39)	missense	possibly damaging	0.79
R8448:Slco1a1	UTSW	6	141,885,787 (GRCm39)	missense	possibly damaging	0.79
R8856:Slco1a1	UTSW	6	141,857,624 (GRCm39)	missense	probably damaging	1.00
R9121:Slco1a1	UTSW	6	141,892,542 (GRCm39)	unclassified	probably benign
R9484:Slco1a1	UTSW	6	141,854,672 (GRCm39)	missense	probably benign	0.00
Z1177:Slco1a1	UTSW	6	141,885,744 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTGGAAGCACATAGGAGCCC -3'
(R):5'- TCCTCATTCAAACTAGATGGGTG -3'

Sequencing Primer
(F):5'- ATGTGCATACATATCATACACTCAC -3'
(R):5'- CAAACTAGATGGGTGCTCTTTC -3'

Posted On

2016-02-04