Mutagenetix > Incidental Mutations

Incidental Mutation 'R7784:Slco1a1'

599436

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?

Probably non essential (E-score: 0.210) question?

Stock #

R7784 (G1)

Quality Score

219.009

Status

Validated

Chromosome

Chromosomal Location

141907282-141946962 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 141943388 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 66 (E66V)

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: E66V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000037022
Gene: ENSMUSG00000041698
AA Change: E66V

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: E66V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132386
Gene: ENSMUSG00000041698
AA Change: E66V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,182,828		probably null	Het
3425401B19Rik	A	T	14: 32,659,840	S1389R	probably benign	Het
Abca9	A	T	11: 110,154,417	C363*	probably null	Het
Actbl2	T	A	13: 111,255,411	N93K	probably damaging	Het
Adamtsl3	T	C	7: 82,573,989	Y993H	probably damaging	Het
Adgrg1	G	A	8: 95,012,882	W653*	probably null	Het
Akap13	T	A	7: 75,610,328	V97D	probably benign	Het
C130026I21Rik	T	A	1: 85,212,474		probably null	Het
Cacna1d	T	A	14: 30,123,439	D613V	probably damaging	Het
Col10a1	C	A	10: 34,394,218	P62H	unknown	Het
Cpb2	A	T	14: 75,275,040	N298Y	probably damaging	Het
Ddc	A	G	11: 11,839,396		probably null	Het
Ddx6	T	C	9: 44,630,142		probably null	Het
Epb42	T	G	2: 121,034,435	K58N	probably benign	Het
Eps8	T	A	6: 137,499,587	I605L	probably benign	Het
Eps8l1	T	C	7: 4,472,122	L304P	probably damaging	Het
Erbb4	T	A	1: 68,075,499	I929F	probably damaging	Het
Erc2	A	T	14: 27,898,594	N393I	probably damaging	Het
Fbxw25	C	T	9: 109,650,119	D355N		Het
Ffar2	T	C	7: 30,819,258	K286E	probably benign	Het
Gabrd	A	G	4: 155,388,932		probably null	Het
Ganc	G	A	2: 120,436,668	W488*	probably null	Het
Gm5724	C	T	6: 141,713,193		probably null	Het
Ifi207	T	A	1: 173,730,132	M347L	unknown	Het
Kat6b	A	T	14: 21,660,841	I619F	probably damaging	Het
Kif26a	A	G	12: 112,178,147	R1612G	possibly damaging	Het
Kifc3	A	G	8: 95,110,692		probably null	Het
Krt39	A	T	11: 99,521,031	C76*	probably null	Het
Lcmt1	G	T	7: 123,401,495	R84L	probably benign	Het
Lrit1	A	G	14: 37,061,780	Y355C	probably benign	Het
Mad2l1	C	A	6: 66,535,413		probably null	Het
Med23	C	T	10: 24,902,448	T870M	probably damaging	Het
Mrpl2	A	G	17: 46,648,591		probably null	Het
Mtmr6	A	G	14: 60,300,445	D593G	probably benign	Het
Myo15b	G	A	11: 115,861,340	V683M		Het
Neb	T	A	2: 52,235,488	M506L		Het
Olfr103	T	C	17: 37,336,578	Y218C	probably benign	Het
Olfr103	A	G	17: 37,337,055	F59S	probably damaging	Het
Olfr1154	G	A	2: 87,903,193	T161I	probably benign	Het
Olfr434	T	A	6: 43,217,388	H158Q	possibly damaging	Het
Pdzd8	A	G	19: 59,327,863	F294L	probably damaging	Het
Rabgap1	G	A	2: 37,487,532	S347N	possibly damaging	Het
Rasgrf2	T	C	13: 91,896,082	T350A		Het
Rbp3	A	T	14: 33,954,158	H21L	probably benign	Het
Rp1	C	A	1: 4,142,658	V1069F	unknown	Het
Rtn4	T	A	11: 29,741,048	L1113*	probably null	Het
Ryr3	A	G	2: 112,775,695	F2407L	probably damaging	Het
Sept2	T	A	1: 93,497,444	D107E	probably damaging	Het
Sept4	A	G	11: 87,579,008	T7A	probably benign	Het
Slc34a3	T	A	2: 25,232,225	I123F	probably damaging	Het
Slc9a4	T	C	1: 40,600,776	Y243H	probably damaging	Het
Spata33	A	G	8: 123,213,252	R68G	unknown	Het
Spta1	G	A	1: 174,202,451	D928N	probably damaging	Het
St8sia5	A	G	18: 77,254,550	S319G	probably benign	Het
Tmem208	A	G	8: 105,328,833	D149G	possibly damaging	Het
Trank1	A	T	9: 111,364,103	I583F	probably damaging	Het
Trio	C	T	15: 27,763,994	V2015M	probably damaging	Het
Tsc22d1	C	T	14: 76,416,701	Q207*	probably null	Het
Tshr	A	G	12: 91,505,305	D143G	probably benign	Het
Txlna	C	T	4: 129,632,157	R299H	probably damaging	Het
Ush2a	A	T	1: 188,444,592	T1318S	possibly damaging	Het
Utp14b	A	G	1: 78,664,943	K186R	probably damaging	Het
Vars2	C	T	17: 35,658,158	A884T	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp775	A	G	6: 48,619,249	Q19R	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
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
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
Z1177:Slco1a1	UTSW	6	141940018	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGCTATATGGCAATACTTGGGG -3'
(R):5'- ATTTCCCTCATGGTGGAAGCTG -3'

Sequencing Primer
(F):5'- CAATACTTGGGGGCTGTAATGAG -3'
(R):5'- GGAAGCTGTTCTATCAGTAGACAAC -3'

Posted On

2019-11-26