Mutagenetix > Incidental Mutation

Incidental Mutation 'R5644:Slco1a5'

440955

Institutional Source

Beutler Lab

Gene Symbol

Slco1a5

Ensembl Gene

ENSMUSG00000063975

Gene Name

solute carrier organic anion transporter family, member 1a5

Synonyms

Oatp3, Slc21a7

MMRRC Submission

043292-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R5644 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

142234227-142322981 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 142237594 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137607 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081380] [ENSMUST00000111825] [ENSMUST00000153268]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000081380

SMART Domains

Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975

Domain	Start	End	E-Value	Type
Pfam:MFS_1	22	420	4.3e-30	PFAM
KAZAL	438	486	2.18e0	SMART
transmembrane domain	600	622	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000111825

SMART Domains

Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975

Domain	Start	End	E-Value	Type
Pfam:MFS_1	22	420	5.8e-30	PFAM
KAZAL	438	486	2.18e0	SMART
transmembrane domain	600	622	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153268

SMART Domains

Protein: ENSMUSP00000124829
Gene: ENSMUSG00000063975

Domain	Start	End	E-Value	Type
Pfam:OATP	19	74	3.4e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157614

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium-independent transporter which mediates cellular uptake of organic ions in the liver. Its substrates include bile acids, bromosulphophthalein, and some steroidal compounds. The protein is a member of the SLC21A family of solute carriers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygous mutation of this gene results in decreased percentage of CD8 ells and increased percentage of B cells in the peripheral blood. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	A	T	10: 14,432,934	D805E	probably damaging	Het
Adrb2	A	T	18: 62,178,682	N357K	probably benign	Het
Ahnak	A	G	19: 9,010,657	K3102E	possibly damaging	Het
Alkal2	T	A	12: 30,884,890	L36Q	probably damaging	Het
Alkbh8	G	T	9: 3,385,384	V559F	probably damaging	Het
Apba2	A	G	7: 64,715,511	T346A	probably benign	Het
Arhgap10	C	T	8: 77,411,055	M302I	probably benign	Het
Asah1	G	T	8: 41,360,295	T27K	possibly damaging	Het
Bag2	A	G	1: 33,746,953	V96A	probably damaging	Het
Bicd1	C	T	6: 149,520,403	A874V	probably damaging	Het
C4b	T	C	17: 34,742,417	I189M	probably benign	Het
Cacna1a	A	G	8: 84,462,777	Y119C	probably damaging	Het
Calcr	A	G	6: 3,708,538	I216T	probably damaging	Het
Ccar1	T	C	10: 62,771,978	N302S	probably benign	Het
Ccdc93	A	G	1: 121,483,336	H446R	probably benign	Het
Cct6b	A	T	11: 82,722,455	L420Q	probably benign	Het
Cemip	T	C	7: 83,989,184	T273A	probably benign	Het
Cep128	A	T	12: 91,348,851	I87K	probably damaging	Het
Cfap221	A	G	1: 119,932,802	L698P	probably damaging	Het
Cfap43	T	A	19: 47,795,675	N473I	possibly damaging	Het
Clec12b	T	A	6: 129,379,960	I172L	probably benign	Het
Cntnap5b	A	C	1: 100,383,601	E606D	probably benign	Het
Cyp2c67	A	C	19: 39,615,694	V406G	possibly damaging	Het
Dhx57	T	C	17: 80,238,873	I1308V	possibly damaging	Het
Dnah7a	A	T	1: 53,540,979	M1599K	probably benign	Het
Dnajc21	A	T	15: 10,461,915	D133E	probably benign	Het
Dpp8	G	A	9: 65,045,735	W231*	probably null	Het
Dvl3	T	A	16: 20,526,276	I353N	probably damaging	Het
Fgd6	T	A	10: 94,134,050	I1187N	possibly damaging	Het
Fn1	A	T	1: 71,627,250	Y875N	probably damaging	Het
Gaa	T	A	11: 119,280,535	M671K	possibly damaging	Het
Gm11939	T	C	11: 99,559,312	D52G	probably damaging	Het
Gm14403	A	T	2: 177,507,261	H50L	possibly damaging	Het
Gpam	A	T	19: 55,088,899	D153E	probably benign	Het
Gzma	T	C	13: 113,098,260	T66A	probably damaging	Het
Hnmt	A	T	2: 24,014,239	W137R	probably damaging	Het
Hsd17b7	A	T	1: 169,955,948	V297D	probably damaging	Het
Ighv1-85	A	T	12: 116,000,060	S107T	possibly damaging	Het
Kif12	T	A	4: 63,165,893	Q624L	possibly damaging	Het
Kif1b	T	C	4: 149,238,482	D660G	probably damaging	Het
Klf13	T	C	7: 63,891,560		probably benign	Het
Klhl41	A	G	2: 69,670,471	Y92C	probably damaging	Het
Klrc2	A	T	6: 129,656,457	C186S	probably damaging	Het
Lao1	T	A	4: 118,965,236		probably null	Het
Lmo7	A	G	14: 101,929,336		probably benign	Het
Lyst	A	T	13: 13,637,496	Q831L	possibly damaging	Het
Lzts1	A	G	8: 69,139,077	S140P	possibly damaging	Het
Man2b1	T	A	8: 85,094,210	I679N	possibly damaging	Het
Mgat5b	T	A	11: 116,973,400	V464E	probably damaging	Het
Mrgprb5	G	A	7: 48,168,207	T260I	probably benign	Het
Mybpc2	T	C	7: 44,507,053	T825A	probably benign	Het
Mycbp2	T	A	14: 103,287,334	K597I	probably damaging	Het
Naalad2	G	T	9: 18,334,931	N568K	possibly damaging	Het
Neurl1a	A	G	19: 47,179,477	N4S	probably benign	Het
Nfx1	T	C	4: 40,984,973	W366R	probably null	Het
Nipbl	C	T	15: 8,358,907	V410I	probably benign	Het
Nlrp9a	A	T	7: 26,558,568	H537L	possibly damaging	Het
Nxpe4	A	G	9: 48,392,750	N46D	probably benign	Het
Olfr1037	T	C	2: 86,085,159	N206S	probably damaging	Het
Olfr116	T	A	17: 37,624,432	I68F	probably benign	Het
Olfr1188	T	A	2: 88,559,505	M1K	probably null	Het
Olfr1313	A	T	2: 112,071,668	M305K	probably benign	Het
Olfr1443	A	T	19: 12,680,972	Y288F	probably damaging	Het
Olfr290	C	A	7: 84,916,119	F113L	probably benign	Het
Olfr482	A	T	7: 108,094,804	Y255*	probably null	Het
Olfr484	A	G	7: 108,124,651	F204S	probably benign	Het
Olfr791	A	T	10: 129,527,103	N292I	probably damaging	Het
Olfr813	T	A	10: 129,857,427	V303E	probably benign	Het
P2ry12	A	T	3: 59,218,095	M53K	possibly damaging	Het
Pcca	G	A	14: 122,887,069	C684Y	probably damaging	Het
Pdzd7	A	G	19: 45,040,180	S175P	probably benign	Het
Pgbd1	A	G	13: 21,423,152	C291R	probably damaging	Het
Plekhg5	T	C	4: 152,104,340	V200A	probably benign	Het
Pola2	A	G	19: 5,961,170	V42A	probably benign	Het
Pramef25	C	T	4: 143,948,804	G484D	probably benign	Het
Prkcd	C	A	14: 30,607,413	K23N	probably benign	Het
Ptdss1	T	C	13: 66,972,540	F267L	probably damaging	Het
Rad54l	C	T	4: 116,098,947	S561N	probably benign	Het
Rai14	T	A	15: 10,593,051	H169L	probably benign	Het
Rfc3	C	T	5: 151,649,979	V40I	probably benign	Het
Rpl31	C	T	1: 39,370,027	R41C	probably benign	Het
Rtl1	C	T	12: 109,591,579	M1275I	probably benign	Het
Ryr2	C	A	13: 11,595,582	E4119D	probably damaging	Het
Senp7	T	C	16: 56,184,149		silent	Het
Sfmbt2	A	T	2: 10,568,373	I571F	probably damaging	Het
Sit1	T	A	4: 43,483,562	T8S	probably benign	Het
Slc22a30	T	C	19: 8,404,616	H97R	possibly damaging	Het
Smc6	T	A	12: 11,289,994	N434K	probably benign	Het
Snap91	G	T	9: 86,790,153		probably null	Het
Srsf10	T	C	4: 135,863,820	S194P	possibly damaging	Het
St14	T	C	9: 31,106,510	M205V	probably benign	Het
Syndig1	A	T	2: 149,899,508	I5F	possibly damaging	Het
Tbrg1	T	C	9: 37,649,413	D389G	probably benign	Het
Tcaf2	G	A	6: 42,642,773	R107C	possibly damaging	Het
Tpmt	T	A	13: 47,028,959	D163V	probably benign	Het
Trim15	T	C	17: 36,866,821	E94G	probably damaging	Het
Trit1	T	C	4: 123,049,172	I279T	probably damaging	Het
Trpm8	T	A	1: 88,359,739	F815I	possibly damaging	Het
Ttn	T	A	2: 76,938,523	T2856S	probably damaging	Het
Ugdh	A	T	5: 65,416,861	D446E	probably benign	Het
Unc5c	C	T	3: 141,678,125	A88V	probably damaging	Het
Vmn1r43	T	C	6: 89,870,372	N44S	probably damaging	Het
Vmn2r120	T	A	17: 57,524,977	M271L	probably benign	Het
Wdr74	T	A	19: 8,737,876	V133E	probably damaging	Het
Zfp607b	T	C	7: 27,703,769	L550P	probably damaging	Het

Other mutations in Slco1a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01304:Slco1a5	APN	6	142242150	missense	probably benign	0.00
IGL01432:Slco1a5	APN	6	142236286	missense	possibly damaging	0.59
IGL01590:Slco1a5	APN	6	142250319	missense	probably benign	0.01
IGL01824:Slco1a5	APN	6	142253037	missense	probably benign	0.01
IGL01915:Slco1a5	APN	6	142243873	missense	probably benign	0.00
IGL01945:Slco1a5	APN	6	142243989	critical splice acceptor site	probably null
IGL02078:Slco1a5	APN	6	142254446	missense	probably benign	0.30
IGL02178:Slco1a5	APN	6	142262688	nonsense	probably null
IGL02366:Slco1a5	APN	6	142250215	missense	possibly damaging	0.57
IGL02395:Slco1a5	APN	6	142275487	missense	probably damaging	0.99
IGL02621:Slco1a5	APN	6	142242015	missense	probably benign	0.10
IGL02752:Slco1a5	APN	6	142262712	missense	probably benign	0.07
IGL02940:Slco1a5	APN	6	142242005	missense	probably damaging	1.00
IGL03065:Slco1a5	APN	6	142248843	splice site	probably benign
IGL03377:Slco1a5	APN	6	142234766	missense	probably benign	0.01
R0017:Slco1a5	UTSW	6	142236335	splice site	probably benign
R0017:Slco1a5	UTSW	6	142236335	splice site	probably benign
R0230:Slco1a5	UTSW	6	142236328	splice site	probably benign
R0690:Slco1a5	UTSW	6	142268278	missense	probably benign	0.24
R1217:Slco1a5	UTSW	6	142254374	missense	probably damaging	0.98
R1900:Slco1a5	UTSW	6	142242063	missense	probably benign	0.44
R2084:Slco1a5	UTSW	6	142234711	missense	probably benign	0.32
R2393:Slco1a5	UTSW	6	142248775	missense	possibly damaging	0.85
R2414:Slco1a5	UTSW	6	142236250	missense	probably damaging	1.00
R2760:Slco1a5	UTSW	6	142250271	missense	probably benign	0.00
R3420:Slco1a5	UTSW	6	142268238	missense	possibly damaging	0.61
R3421:Slco1a5	UTSW	6	142268238	missense	possibly damaging	0.61
R3827:Slco1a5	UTSW	6	142253249	missense	probably damaging	0.97
R3963:Slco1a5	UTSW	6	142248644	critical splice donor site	probably null
R3977:Slco1a5	UTSW	6	142258972	splice site	probably benign
R4074:Slco1a5	UTSW	6	142268224	missense	possibly damaging	0.88
R4075:Slco1a5	UTSW	6	142268224	missense	possibly damaging	0.88
R4076:Slco1a5	UTSW	6	142268224	missense	possibly damaging	0.88
R4782:Slco1a5	UTSW	6	142248807	missense	possibly damaging	0.82
R4799:Slco1a5	UTSW	6	142248807	missense	possibly damaging	0.82
R4831:Slco1a5	UTSW	6	142234705	missense	probably benign
R5038:Slco1a5	UTSW	6	142262637	missense	probably benign	0.01
R5038:Slco1a5	UTSW	6	142266364	missense	probably damaging	1.00
R5063:Slco1a5	UTSW	6	142259065	missense	probably damaging	1.00
R5273:Slco1a5	UTSW	6	142242098	missense	probably benign	0.00
R5436:Slco1a5	UTSW	6	142254392	missense	probably damaging	1.00
R5579:Slco1a5	UTSW	6	142242125	missense	possibly damaging	0.93
R5602:Slco1a5	UTSW	6	142275529	start gained	probably benign
R5643:Slco1a5	UTSW	6	142237594	splice site	probably null
R5686:Slco1a5	UTSW	6	142236307	missense	probably damaging	1.00
R5699:Slco1a5	UTSW	6	142248816	missense	probably damaging	0.96
R5792:Slco1a5	UTSW	6	142242113	missense	probably damaging	1.00
R5938:Slco1a5	UTSW	6	142248717	missense	probably damaging	0.97
R5997:Slco1a5	UTSW	6	142253113	missense	probably benign	0.19
R6146:Slco1a5	UTSW	6	142234808	missense	probably benign
R6377:Slco1a5	UTSW	6	142242180	splice site	probably null
R6466:Slco1a5	UTSW	6	142237534	missense	probably benign	0.01
R6523:Slco1a5	UTSW	6	142266395	missense	probably damaging	1.00
R7092:Slco1a5	UTSW	6	142248675	missense	probably benign
R7207:Slco1a5	UTSW	6	142248749	nonsense	probably null
R7356:Slco1a5	UTSW	6	142234732	missense	probably benign	0.01
R7430:Slco1a5	UTSW	6	142248712	missense	probably benign	0.00
R7445:Slco1a5	UTSW	6	142259008	missense	possibly damaging	0.93
R7499:Slco1a5	UTSW	6	142262531	splice site	probably null
R7579:Slco1a5	UTSW	6	142275481	missense	probably benign	0.00
R8117:Slco1a5	UTSW	6	142262692	missense	probably damaging	1.00
R8209:Slco1a5	UTSW	6	142262682	missense	probably damaging	1.00
R8217:Slco1a5	UTSW	6	142275476	missense	probably benign	0.13
R8358:Slco1a5	UTSW	6	142262685	missense	probably benign	0.45
R8710:Slco1a5	UTSW	6	142253102	missense	probably benign	0.03
R9071:Slco1a5	UTSW	6	142250326	missense	possibly damaging	0.50
R9316:Slco1a5	UTSW	6	142250209	missense	probably damaging	0.99
R9427:Slco1a5	UTSW	6	142268275	missense	probably damaging	0.98
R9619:Slco1a5	UTSW	6	142253120	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- ACACACCTATGTTAAAGATGCTACA -3'
(R):5'- CTGTGTGAGAGTAACAGAGGCAG -3'

Sequencing Primer
(F):5'- GATAACCTGAATCTGTGTGCCCAAG -3'
(R):5'- GTAACAGAGGCAGAGCTGTATC -3'

Posted On

2016-11-08