Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02078:Slco1a5'

186026

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 #

IGL02078

Quality Score

Status

Chromosome

Chromosomal Location

142179953-142268707 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 142200172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 204 (M204K)

Ref Sequence

ENSEMBL: ENSMUSP00000137607 (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: M204K

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975
AA Change: M204K

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: M204K

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975
AA Change: M204K

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 benign
Transcript: ENSMUST00000153268

SMART Domains

Protein: ENSMUSP00000124829
Gene: ENSMUSG00000063975

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	T	C	15: 59,888,179 (GRCm39)	D87G	probably benign	Het
Acap1	C	T	11: 69,786,112 (GRCm39)	R18Q	probably damaging	Het
Atp1a1	A	C	3: 101,499,179 (GRCm39)	V140G	probably damaging	Het
Bmpr1b	G	A	3: 141,576,498 (GRCm39)	P112S	possibly damaging	Het
Chst8	T	A	7: 34,374,759 (GRCm39)	N360I	possibly damaging	Het
Cldn23	A	T	8: 36,293,359 (GRCm39)	V43E	possibly damaging	Het
Clta	T	C	4: 44,030,232 (GRCm39)	F168S	probably damaging	Het
Cyp2c40	T	C	19: 39,755,926 (GRCm39)	I463V	probably benign	Het
E2f2	A	G	4: 135,920,323 (GRCm39)	D436G	probably damaging	Het
Fbxo24	T	G	5: 137,622,611 (GRCm39)	T52P	probably damaging	Het
Gria4	G	A	9: 4,793,878 (GRCm39)	A60V	probably damaging	Het
Grm1	C	T	10: 10,565,354 (GRCm39)	V985M	probably benign	Het
Hexa	A	G	9: 59,464,586 (GRCm39)	T159A	probably benign	Het
Inf2	T	A	12: 112,568,048 (GRCm39)	V200E	probably damaging	Het
Kif20b	T	A	19: 34,913,044 (GRCm39)	V319E	probably damaging	Het
Klhl10	A	G	11: 100,336,577 (GRCm39)	D188G	probably benign	Het
Mobp	G	A	9: 119,996,980 (GRCm39)	R37H	probably damaging	Het
Mybpc2	T	A	7: 44,153,204 (GRCm39)	D1086V	probably damaging	Het
Nadk	A	C	4: 155,663,860 (GRCm39)		probably benign	Het
Or7g33	T	A	9: 19,448,749 (GRCm39)	H159L	probably benign	Het
Per1	A	G	11: 68,995,125 (GRCm39)	E619G	probably damaging	Het
Rab3gap1	G	A	1: 127,796,652 (GRCm39)		probably benign	Het
Rimkla	A	G	4: 119,325,344 (GRCm39)	L355P	probably damaging	Het
Rnf139	A	G	15: 58,771,880 (GRCm39)	D635G	possibly damaging	Het
Sall1	T	A	8: 89,757,003 (GRCm39)	N1034Y	probably damaging	Het
Serpinb13	A	T	1: 106,926,688 (GRCm39)	Q228L	probably damaging	Het
Sin3b	G	T	8: 73,480,208 (GRCm39)	M903I	possibly damaging	Het
Smo	A	G	6: 29,754,707 (GRCm39)	D259G	possibly damaging	Het
Spata31g1	A	C	4: 42,972,685 (GRCm39)	K673Q	possibly damaging	Het
Sult2a4	T	C	7: 13,723,469 (GRCm39)	I15M	probably benign	Het
Ttn	T	A	2: 76,772,785 (GRCm39)		probably null	Het
Wdtc1	C	A	4: 133,033,271 (GRCm39)	D176Y	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
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
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

2014-05-07