Mutagenetix > Incidental Mutation

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

Slc21a1, Oatp1a1, Oatp1

MMRRC Submission

045840-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.255) question?

Stock #

R7784 (G1)

Quality Score

219.009

Status

Validated

Chromosome

Chromosomal Location

141853008-141892688 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 141889114 bp (GRCm39)

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: 146,119,638 (GRCm39)		probably null	Het
3425401B19Rik	A	T	14: 32,381,797 (GRCm39)	S1389R	probably benign	Het
Abca9	A	T	11: 110,045,243 (GRCm39)	C363*	probably null	Het
Actbl2	T	A	13: 111,391,945 (GRCm39)	N93K	probably damaging	Het
Adamtsl3	T	C	7: 82,223,197 (GRCm39)	Y993H	probably damaging	Het
Adgrg1	G	A	8: 95,739,510 (GRCm39)	W653*	probably null	Het
Akap13	T	A	7: 75,260,076 (GRCm39)	V97D	probably benign	Het
Cacna1d	T	A	14: 29,845,396 (GRCm39)	D613V	probably damaging	Het
Col10a1	C	A	10: 34,270,214 (GRCm39)	P62H	unknown	Het
Cpb2	A	T	14: 75,512,480 (GRCm39)	N298Y	probably damaging	Het
Ddc	A	G	11: 11,789,396 (GRCm39)		probably null	Het
Ddx6	T	C	9: 44,541,439 (GRCm39)		probably null	Het
Epb42	T	G	2: 120,864,916 (GRCm39)	K58N	probably benign	Het
Eps8	T	A	6: 137,476,585 (GRCm39)	I605L	probably benign	Het
Eps8l1	T	C	7: 4,475,121 (GRCm39)	L304P	probably damaging	Het
Erbb4	T	A	1: 68,114,658 (GRCm39)	I929F	probably damaging	Het
Erc2	A	T	14: 27,620,551 (GRCm39)	N393I	probably damaging	Het
Fbxw25	C	T	9: 109,479,187 (GRCm39)	D355N		Het
Ffar2	T	C	7: 30,518,683 (GRCm39)	K286E	probably benign	Het
Gabrd	A	G	4: 155,473,389 (GRCm39)		probably null	Het
Ganc	G	A	2: 120,267,149 (GRCm39)	W488*	probably null	Het
Ifi207	T	A	1: 173,557,698 (GRCm39)	M347L	unknown	Het
Kat6b	A	T	14: 21,710,909 (GRCm39)	I619F	probably damaging	Het
Kif26a	A	G	12: 112,144,581 (GRCm39)	R1612G	possibly damaging	Het
Kifc3	A	G	8: 95,837,320 (GRCm39)		probably null	Het
Krt39	A	T	11: 99,411,857 (GRCm39)	C76*	probably null	Het
Lcmt1	G	T	7: 123,000,718 (GRCm39)	R84L	probably benign	Het
Lrit1	A	G	14: 36,783,737 (GRCm39)	Y355C	probably benign	Het
Mad2l1	C	A	6: 66,512,397 (GRCm39)		probably null	Het
Med23	C	T	10: 24,778,346 (GRCm39)	T870M	probably damaging	Het
Mrpl2	A	G	17: 46,959,517 (GRCm39)		probably null	Het
Mtmr6	A	G	14: 60,537,894 (GRCm39)	D593G	probably benign	Het
Myo15b	G	A	11: 115,752,166 (GRCm39)	V683M		Het
Neb	T	A	2: 52,125,500 (GRCm39)	M506L		Het
Or12d13	T	C	17: 37,647,469 (GRCm39)	Y218C	probably benign	Het
Or12d13	A	G	17: 37,647,946 (GRCm39)	F59S	probably damaging	Het
Or2a20	T	A	6: 43,194,322 (GRCm39)	H158Q	possibly damaging	Het
Or9m1	G	A	2: 87,733,537 (GRCm39)	T161I	probably benign	Het
Pdzd8	A	G	19: 59,316,295 (GRCm39)	F294L	probably damaging	Het
Rabgap1	G	A	2: 37,377,544 (GRCm39)	S347N	possibly damaging	Het
Rasgrf2	T	C	13: 92,044,201 (GRCm39)	T350A		Het
Rbp3	A	T	14: 33,676,115 (GRCm39)	H21L	probably benign	Het
Rp1	C	A	1: 4,212,881 (GRCm39)	V1069F	unknown	Het
Rtn4	T	A	11: 29,691,048 (GRCm39)	L1113*	probably null	Het
Ryr3	A	G	2: 112,606,040 (GRCm39)	F2407L	probably damaging	Het
Septin2	T	A	1: 93,425,166 (GRCm39)	D107E	probably damaging	Het
Septin4	A	G	11: 87,469,834 (GRCm39)	T7A	probably benign	Het
Slc34a3	T	A	2: 25,122,237 (GRCm39)	I123F	probably damaging	Het
Slc9a4	T	C	1: 40,639,936 (GRCm39)	Y243H	probably damaging	Het
Slco1a7	C	T	6: 141,658,919 (GRCm39)		probably null	Het
Sp140l2	T	A	1: 85,190,195 (GRCm39)		probably null	Het
Spata33	A	G	8: 123,939,991 (GRCm39)	R68G	unknown	Het
Spta1	G	A	1: 174,030,017 (GRCm39)	D928N	probably damaging	Het
St8sia5	A	G	18: 77,342,246 (GRCm39)	S319G	probably benign	Het
Tmem208	A	G	8: 106,055,465 (GRCm39)	D149G	possibly damaging	Het
Trank1	A	T	9: 111,193,171 (GRCm39)	I583F	probably damaging	Het
Trio	C	T	15: 27,764,080 (GRCm39)	V2015M	probably damaging	Het
Tsc22d1	C	T	14: 76,654,141 (GRCm39)	Q207*	probably null	Het
Tshr	A	G	12: 91,472,079 (GRCm39)	D143G	probably benign	Het
Txlna	C	T	4: 129,525,950 (GRCm39)	R299H	probably damaging	Het
Ush2a	A	T	1: 188,176,789 (GRCm39)	T1318S	possibly damaging	Het
Utp14b	A	G	1: 78,642,660 (GRCm39)	K186R	probably damaging	Het
Vars2	C	T	17: 35,969,050 (GRCm39)	A884T	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp775	A	G	6: 48,596,183 (GRCm39)	Q19R	possibly damaging	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
R4812:Slco1a1	UTSW	6	141,864,319 (GRCm39)	missense	probably damaging	1.00
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
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'- TGCTATATGGCAATACTTGGGG -3'
(R):5'- ATTTCCCTCATGGTGGAAGCTG -3'

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

Posted On

2019-11-26