Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02395:Slco1a5'

294293

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slco1a5

Ensembl Gene

ENSMUSG00000063975

Gene Name

solute carrier organic anion transporter family, member 1a5

Synonyms

Slc21a7, Oatp3

Accession Numbers

Essential gene?

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

Stock #

IGL02395

Quality Score

Status

Chromosome

Chromosomal Location

142179953-142268707 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 142221213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 11 (H11L)

Ref Sequence

ENSEMBL: ENSMUSP00000124829 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081380] [ENSMUST00000111825] [ENSMUST00000128446] [ENSMUST00000153268]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000081380
AA Change: H11L

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975
AA Change: H11L

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

noncoding transcript
Transcript: ENSMUST00000111822

Predicted Effect

probably benign
Transcript: ENSMUST00000111825
AA Change: H11L

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975
AA Change: H11L

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: ENSMUST00000128446

SMART Domains

Protein: ENSMUSP00000124987
Gene: ENSMUSG00000063975

Domain	Start	End	E-Value	Type
Pfam:OATP	1	157	6.1e-67	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000153268
AA Change: H11L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124829
Gene: ENSMUSG00000063975
AA Change: H11L

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

Coding Region Coverage

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,617,496 (GRCm39)	C540S	probably damaging	Het
Cdk5	A	G	5: 24,624,635 (GRCm39)	V252A	possibly damaging	Het
Ddi2	C	T	4: 141,422,725 (GRCm39)	R329Q	possibly damaging	Het
Dennd2c	T	A	3: 103,065,081 (GRCm39)	F678I	probably benign	Het
Ect2	T	C	3: 27,204,255 (GRCm39)	D18G	probably damaging	Het
Efcab11	C	A	12: 99,820,868 (GRCm39)		probably null	Het
Eri2	T	C	7: 119,387,033 (GRCm39)	E162G	probably damaging	Het
Fam120b	T	C	17: 15,622,777 (GRCm39)	S252P	probably damaging	Het
Filip1	G	A	9: 79,805,692 (GRCm39)	P21S	probably benign	Het
Kmt5b	T	A	19: 3,864,887 (GRCm39)	D627E	probably benign	Het
Krt87	T	C	15: 101,385,833 (GRCm39)	D254G	probably benign	Het
Man1a2	T	C	3: 100,551,853 (GRCm39)		probably null	Het
Mapk15	T	C	15: 75,870,019 (GRCm39)	S380P	probably benign	Het
Mrpl48	G	T	7: 100,195,551 (GRCm39)		probably benign	Het
Nme8	T	A	13: 19,862,078 (GRCm39)	I184L	possibly damaging	Het
Nrk	A	G	X: 137,876,935 (GRCm39)	E712G	probably damaging	Het
Or4c110	T	A	2: 88,832,507 (GRCm39)	T42S	probably benign	Het
Or4k6	C	A	14: 50,475,886 (GRCm39)	G152V	probably damaging	Het
Or5m5	A	G	2: 85,814,426 (GRCm39)	T81A	possibly damaging	Het
Or6z6	C	T	7: 6,491,802 (GRCm39)	V17M	possibly damaging	Het
Plekho1	A	T	3: 95,902,876 (GRCm39)	Y36*	probably null	Het
Tiam2	T	A	17: 3,471,756 (GRCm39)	M466K	possibly damaging	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Tnfrsf22	A	T	7: 143,197,053 (GRCm39)	N95K	probably damaging	Het
Vmn1r90	T	C	7: 14,295,822 (GRCm39)	Y92C	probably damaging	Het
Zc2hc1a	T	A	3: 7,593,684 (GRCm39)	L214*	probably null	Het
Zcchc17	C	A	4: 130,230,920 (GRCm39)	V90F	probably damaging	Het
Zcchc7	T	C	4: 44,761,868 (GRCm39)		probably benign	Het
Zmiz1	T	C	14: 25,657,187 (GRCm39)	V821A	probably damaging	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
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
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

2015-04-16