Mutagenetix > Incidental Mutation

Incidental Mutation 'R0017:Slco1a5'

8302

Institutional Source

Beutler Lab

Gene Symbol

Slco1a5

Ensembl Gene

ENSMUSG00000063975

Gene Name

solute carrier organic anion transporter family, member 1a5

Synonyms

Slc21a7, Oatp3

MMRRC Submission

038312-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R0017 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

142179953-142268707 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 142182061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124829 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
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 benign
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

Coding Region Coverage

1x: 79.1%
3x: 69.1%
10x: 41.8%
20x: 21.2%

Validation Efficiency

93% (76/82)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	T	17: 9,226,938 (GRCm39)		probably benign	Het
Adgrv1	T	C	13: 81,727,065 (GRCm39)	N429S	probably benign	Het
Cdca8	T	C	4: 124,814,168 (GRCm39)	T208A	probably benign	Het
Dcdc5	G	A	2: 106,187,541 (GRCm39)		noncoding transcript	Het
Fig4	A	G	10: 41,149,003 (GRCm39)	Y150H	possibly damaging	Het
Fsip2	G	A	2: 82,822,416 (GRCm39)	V6050M	probably damaging	Het
Gpld1	A	G	13: 25,174,101 (GRCm39)	D842G	probably damaging	Het
Hmgcr	A	G	13: 96,788,597 (GRCm39)		probably benign	Het
Ifit2	A	T	19: 34,550,973 (GRCm39)	N171I	probably damaging	Het
Ipo11	T	A	13: 107,023,238 (GRCm39)	I416L	probably benign	Het
Kcnab1	G	A	3: 65,264,527 (GRCm39)	V259M	probably damaging	Het
Kif5c	A	G	2: 49,622,725 (GRCm39)	T526A	probably benign	Het
Nucb2	A	G	7: 116,132,386 (GRCm39)	D331G	probably benign	Het
Pfdn6	T	C	17: 34,158,538 (GRCm39)	R79G	probably damaging	Het
Pkd1	G	T	17: 24,797,513 (GRCm39)		probably null	Het
Ptpro	T	C	6: 137,393,825 (GRCm39)	V831A	probably benign	Het
Reg3b	T	A	6: 78,349,844 (GRCm39)	M128K	possibly damaging	Het
Rif1	A	G	2: 52,006,686 (GRCm39)	T2207A	probably benign	Het
Rpa1	A	C	11: 75,205,687 (GRCm39)	N223K	probably null	Het
Rras2	T	C	7: 113,647,490 (GRCm39)		probably benign	Het
Scyl3	T	A	1: 163,767,538 (GRCm39)	I204N	possibly damaging	Het
Slc45a1	C	A	4: 150,714,023 (GRCm39)	D741Y	possibly damaging	Het
Smg5	G	T	3: 88,258,412 (GRCm39)	R461L	probably damaging	Het
Sync	G	A	4: 129,187,537 (GRCm39)	V190M	probably damaging	Het
Tshr	A	T	12: 91,504,660 (GRCm39)	I533F	possibly damaging	Het
Tsn	T	C	1: 118,228,589 (GRCm39)	D211G	probably damaging	Het
Ttn	G	A	2: 76,621,988 (GRCm39)	T15518I	probably benign	Het
Vapb	A	G	2: 173,613,397 (GRCm39)	T99A	probably benign	Het
Zfp280d	A	T	9: 72,246,292 (GRCm39)		probably null	Het

Other mutations in Slco1a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01304:Slco1a5	APN	6	142,187,876 (GRCm39)	missense	probably benign	0.00
IGL01432:Slco1a5	APN	6	142,182,012 (GRCm39)	missense	possibly damaging	0.59
IGL01590:Slco1a5	APN	6	142,196,045 (GRCm39)	missense	probably benign	0.01
IGL01824:Slco1a5	APN	6	142,198,763 (GRCm39)	missense	probably benign	0.01
IGL01915:Slco1a5	APN	6	142,189,599 (GRCm39)	missense	probably benign	0.00
IGL01945:Slco1a5	APN	6	142,189,715 (GRCm39)	critical splice acceptor site	probably null
IGL02078:Slco1a5	APN	6	142,200,172 (GRCm39)	missense	probably benign	0.30
IGL02178:Slco1a5	APN	6	142,208,414 (GRCm39)	nonsense	probably null
IGL02366:Slco1a5	APN	6	142,195,941 (GRCm39)	missense	possibly damaging	0.57
IGL02395:Slco1a5	APN	6	142,221,213 (GRCm39)	missense	probably damaging	0.99
IGL02621:Slco1a5	APN	6	142,187,741 (GRCm39)	missense	probably benign	0.10
IGL02752:Slco1a5	APN	6	142,208,438 (GRCm39)	missense	probably benign	0.07
IGL02940:Slco1a5	APN	6	142,187,731 (GRCm39)	missense	probably damaging	1.00
IGL03065:Slco1a5	APN	6	142,194,569 (GRCm39)	splice site	probably benign
IGL03377:Slco1a5	APN	6	142,180,492 (GRCm39)	missense	probably benign	0.01
R0017:Slco1a5	UTSW	6	142,182,061 (GRCm39)	splice site	probably benign
R0230:Slco1a5	UTSW	6	142,182,054 (GRCm39)	splice site	probably benign
R0690:Slco1a5	UTSW	6	142,214,004 (GRCm39)	missense	probably benign	0.24
R1217:Slco1a5	UTSW	6	142,200,100 (GRCm39)	missense	probably damaging	0.98
R1900:Slco1a5	UTSW	6	142,187,789 (GRCm39)	missense	probably benign	0.44
R2084:Slco1a5	UTSW	6	142,180,437 (GRCm39)	missense	probably benign	0.32
R2393:Slco1a5	UTSW	6	142,194,501 (GRCm39)	missense	possibly damaging	0.85
R2414:Slco1a5	UTSW	6	142,181,976 (GRCm39)	missense	probably damaging	1.00
R2760:Slco1a5	UTSW	6	142,195,997 (GRCm39)	missense	probably benign	0.00
R3420:Slco1a5	UTSW	6	142,213,964 (GRCm39)	missense	possibly damaging	0.61
R3421:Slco1a5	UTSW	6	142,213,964 (GRCm39)	missense	possibly damaging	0.61
R3827:Slco1a5	UTSW	6	142,198,975 (GRCm39)	missense	probably damaging	0.97
R3963:Slco1a5	UTSW	6	142,194,370 (GRCm39)	critical splice donor site	probably null
R3977:Slco1a5	UTSW	6	142,204,698 (GRCm39)	splice site	probably benign
R4074:Slco1a5	UTSW	6	142,213,950 (GRCm39)	missense	possibly damaging	0.88
R4075:Slco1a5	UTSW	6	142,213,950 (GRCm39)	missense	possibly damaging	0.88
R4076:Slco1a5	UTSW	6	142,213,950 (GRCm39)	missense	possibly damaging	0.88
R4782:Slco1a5	UTSW	6	142,194,533 (GRCm39)	missense	possibly damaging	0.82
R4799:Slco1a5	UTSW	6	142,194,533 (GRCm39)	missense	possibly damaging	0.82
R4831:Slco1a5	UTSW	6	142,180,431 (GRCm39)	missense	probably benign
R5038:Slco1a5	UTSW	6	142,212,090 (GRCm39)	missense	probably damaging	1.00
R5038:Slco1a5	UTSW	6	142,208,363 (GRCm39)	missense	probably benign	0.01
R5063:Slco1a5	UTSW	6	142,204,791 (GRCm39)	missense	probably damaging	1.00
R5273:Slco1a5	UTSW	6	142,187,824 (GRCm39)	missense	probably benign	0.00
R5436:Slco1a5	UTSW	6	142,200,118 (GRCm39)	missense	probably damaging	1.00
R5579:Slco1a5	UTSW	6	142,187,851 (GRCm39)	missense	possibly damaging	0.93
R5602:Slco1a5	UTSW	6	142,221,255 (GRCm39)	start gained	probably benign
R5643:Slco1a5	UTSW	6	142,183,320 (GRCm39)	splice site	probably null
R5644:Slco1a5	UTSW	6	142,183,320 (GRCm39)	splice site	probably null
R5686:Slco1a5	UTSW	6	142,182,033 (GRCm39)	missense	probably damaging	1.00
R5699:Slco1a5	UTSW	6	142,194,542 (GRCm39)	missense	probably damaging	0.96
R5792:Slco1a5	UTSW	6	142,187,839 (GRCm39)	missense	probably damaging	1.00
R5938:Slco1a5	UTSW	6	142,194,443 (GRCm39)	missense	probably damaging	0.97
R5997:Slco1a5	UTSW	6	142,198,839 (GRCm39)	missense	probably benign	0.19
R6146:Slco1a5	UTSW	6	142,180,534 (GRCm39)	missense	probably benign
R6377:Slco1a5	UTSW	6	142,187,906 (GRCm39)	splice site	probably null
R6466:Slco1a5	UTSW	6	142,183,260 (GRCm39)	missense	probably benign	0.01
R6523:Slco1a5	UTSW	6	142,212,121 (GRCm39)	missense	probably damaging	1.00
R7092:Slco1a5	UTSW	6	142,194,401 (GRCm39)	missense	probably benign
R7207:Slco1a5	UTSW	6	142,194,475 (GRCm39)	nonsense	probably null
R7356:Slco1a5	UTSW	6	142,180,458 (GRCm39)	missense	probably benign	0.01
R7430:Slco1a5	UTSW	6	142,194,438 (GRCm39)	missense	probably benign	0.00
R7445:Slco1a5	UTSW	6	142,204,734 (GRCm39)	missense	possibly damaging	0.93
R7499:Slco1a5	UTSW	6	142,208,257 (GRCm39)	splice site	probably null
R7579:Slco1a5	UTSW	6	142,221,207 (GRCm39)	missense	probably benign	0.00
R8117:Slco1a5	UTSW	6	142,208,418 (GRCm39)	missense	probably damaging	1.00
R8209:Slco1a5	UTSW	6	142,208,408 (GRCm39)	missense	probably damaging	1.00
R8217:Slco1a5	UTSW	6	142,221,202 (GRCm39)	missense	probably benign	0.13
R8358:Slco1a5	UTSW	6	142,208,411 (GRCm39)	missense	probably benign	0.45
R8710:Slco1a5	UTSW	6	142,198,828 (GRCm39)	missense	probably benign	0.03
R9071:Slco1a5	UTSW	6	142,196,052 (GRCm39)	missense	possibly damaging	0.50
R9316:Slco1a5	UTSW	6	142,195,935 (GRCm39)	missense	probably damaging	0.99
R9427:Slco1a5	UTSW	6	142,214,001 (GRCm39)	missense	probably damaging	0.98
R9619:Slco1a5	UTSW	6	142,198,846 (GRCm39)	missense	probably benign	0.13

Posted On

2012-11-21