Mutagenetix > Incidental Mutation

Incidental Mutation 'R6225:Slco1a1'

504262

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

044356-MU

Accession Numbers

Essential gene?

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

Stock #

R6225 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141853008-141892688 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 141870215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 308 (F308I)

Ref Sequence

ENSEMBL: ENSMUSP00000132386 (fasta)

Gene Model

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

AlphaFold

Q9QXZ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042119
AA Change: F308I

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000037022
Gene: ENSMUSG00000041698
AA Change: F308I

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: F308I

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132386
Gene: ENSMUSG00000041698
AA Change: F308I

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

0.0996

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,870,445 (GRCm39)	H288R	possibly damaging	Het
Adh1	T	C	3: 137,995,565 (GRCm39)	F323L	probably benign	Het
Adss1	A	C	12: 112,600,837 (GRCm39)	H226P	probably damaging	Het
Ahrr	A	G	13: 74,371,031 (GRCm39)	S230P	possibly damaging	Het
Akap9	T	C	5: 4,012,105 (GRCm39)	V936A	probably damaging	Het
B4galnt2	A	G	11: 95,759,268 (GRCm39)	Y339H	probably damaging	Het
Bltp1	T	C	3: 37,002,453 (GRCm39)	V1466A	probably damaging	Het
C4b	C	A	17: 34,957,848 (GRCm39)	G611V	possibly damaging	Het
Cacna1i	A	G	15: 80,205,427 (GRCm39)	M128V	probably damaging	Het
Chia1	T	C	3: 106,038,213 (GRCm39)	S370P	possibly damaging	Het
Cops6	T	C	5: 138,159,673 (GRCm39)	V9A	possibly damaging	Het
D630003M21Rik	A	T	2: 158,059,321 (GRCm39)	I193K	probably benign	Het
Daam2	T	C	17: 49,801,467 (GRCm39)	D90G	probably damaging	Het
Fads3	A	G	19: 10,019,202 (GRCm39)	D36G	probably benign	Het
Fam185a	T	C	5: 21,630,554 (GRCm39)	V130A	probably damaging	Het
Fbn1	A	T	2: 125,172,463 (GRCm39)	N1928K	probably damaging	Het
Fstl3	A	G	10: 79,615,843 (GRCm39)	M110V	probably benign	Het
G2e3	A	G	12: 51,415,919 (GRCm39)	T552A	possibly damaging	Het
Gfra1	G	A	19: 58,226,830 (GRCm39)	T462I	probably damaging	Het
Glrx2	T	A	1: 143,621,121 (GRCm39)		probably benign	Het
Gm10100	G	T	10: 77,562,498 (GRCm39)	C60F	possibly damaging	Het
Gm43302	T	A	5: 105,425,605 (GRCm39)	K275*	probably null	Het
Gm6569	A	G	15: 73,711,640 (GRCm39)		probably benign	Het
Herc6	G	T	6: 57,639,139 (GRCm39)	V867L	possibly damaging	Het
Hhipl2	T	A	1: 183,209,459 (GRCm39)		probably null	Het
Kcnj16	A	T	11: 110,916,378 (GRCm39)	K347*	probably null	Het
Kcnt2	T	A	1: 140,354,661 (GRCm39)	C305*	probably null	Het
Large2	A	G	2: 92,196,825 (GRCm39)	L477P	probably damaging	Het
Lnpep	T	C	17: 17,799,245 (GRCm39)	T137A	possibly damaging	Het
Mettl3	T	C	14: 52,534,215 (GRCm39)		probably null	Het
Mical3	C	T	6: 120,935,684 (GRCm39)	S1614N	probably damaging	Het
Mmut	T	A	17: 41,249,622 (GRCm39)	V199E	possibly damaging	Het
Morc3	C	A	16: 93,642,082 (GRCm39)	Y100*	probably null	Het
Mrc2	A	G	11: 105,237,646 (GRCm39)	K1108R	probably benign	Het
Mrpl2	T	C	17: 46,960,835 (GRCm39)	V243A	probably damaging	Het
Mtor	T	A	4: 148,605,794 (GRCm39)	N1505K	probably benign	Het
Myo1g	A	T	11: 6,469,168 (GRCm39)	Y45N	probably damaging	Het
Nckap5l	C	A	15: 99,325,905 (GRCm39)	L199F	possibly damaging	Het
Ndufc2	A	G	7: 97,056,099 (GRCm39)	T66A	probably damaging	Het
Nos1	T	A	5: 118,050,917 (GRCm39)	H779Q	probably damaging	Het
Or12e13	A	G	2: 87,663,661 (GRCm39)	T93A	probably benign	Het
Or13j1	T	C	4: 43,705,698 (GRCm39)	Y290C	probably damaging	Het
Or1e23	T	C	11: 73,407,831 (GRCm39)	N65D	probably damaging	Het
Or4c3	A	G	2: 89,851,573 (GRCm39)		probably null	Het
Or51ah3	A	T	7: 103,210,489 (GRCm39)	R268S	probably benign	Het
Or5au1	C	A	14: 52,272,825 (GRCm39)	V248L	possibly damaging	Het
Or5k16	T	C	16: 58,736,545 (GRCm39)	N153S	probably benign	Het
Otog	C	T	7: 45,898,458 (GRCm39)	T192I	possibly damaging	Het
Oxct1	T	C	15: 4,064,812 (GRCm39)	V50A	probably benign	Het
P3h2	T	A	16: 25,784,493 (GRCm39)	D667V	probably damaging	Het
Pcdhb20	A	G	18: 37,638,047 (GRCm39)	Y191C	probably damaging	Het
Pds5b	T	G	5: 150,670,083 (GRCm39)	V357G	probably damaging	Het
Pggt1b	A	G	18: 46,407,674 (GRCm39)	V81A	possibly damaging	Het
Phxr2	A	G	10: 98,962,043 (GRCm39)		probably benign	Het
Pnpt1	T	C	11: 29,095,469 (GRCm39)	I406T	probably benign	Het
Ppat	T	C	5: 77,070,202 (GRCm39)	I173V	probably damaging	Het
Proser3	T	C	7: 30,243,153 (GRCm39)	S167G	probably damaging	Het
Rnf135	A	C	11: 80,080,053 (GRCm39)	T115P	possibly damaging	Het
Rpl22	C	T	4: 152,414,536 (GRCm39)	R65C	probably benign	Het
Scel	T	C	14: 103,829,420 (GRCm39)	F405L	probably benign	Het
Serinc3	A	G	2: 163,469,799 (GRCm39)	Y350H	probably damaging	Het
Slc25a16	C	A	10: 62,764,102 (GRCm39)	T53K	probably damaging	Het
Slitrk5	GACTAC	GACTACTAC	14: 111,917,248 (GRCm39)		probably benign	Het
Smok3c	T	C	5: 138,063,314 (GRCm39)	V267A	probably benign	Het
Ssrp1	A	G	2: 84,873,158 (GRCm39)	D473G	probably benign	Het
Svs6	A	G	2: 164,159,405 (GRCm39)	E56G	possibly damaging	Het
Tas2r130	TCATTTC	T	6: 131,607,547 (GRCm39)		probably benign	Het
Thoc3	T	C	13: 54,615,785 (GRCm39)	N93S	probably benign	Het
Tle6	A	G	10: 81,428,600 (GRCm39)	C443R	probably damaging	Het
Tmed6	A	G	8: 107,788,371 (GRCm39)	F192S	probably damaging	Het
Tpx2	A	G	2: 152,718,548 (GRCm39)	N184D	probably benign	Het
Vmn2r31	T	A	7: 7,397,638 (GRCm39)	N207Y	probably benign	Het
Zfp267	T	C	3: 36,220,352 (GRCm39)	F792L	probably benign	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zfp972	A	T	2: 177,549,117 (GRCm39)		probably null	Het
Zzef1	G	A	11: 72,760,631 (GRCm39)	C1318Y	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
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'- AGACATGTCCTTGTGTGAGG -3'
(R):5'- TGTGGACAGAGACACAATCCC -3'

Sequencing Primer
(F):5'- GAGCTGCTACTAATAAAGAACGTAC -3'
(R):5'- AAGCCTGTTGTGTCATTAATGTC -3'

Posted On

2018-02-28