Mutagenetix > Incidental Mutation

Incidental Mutation 'R2760:Slco1a5'

253991

Institutional Source

Beutler Lab

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: 0.063) question?

Stock #

R2760 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

142179953-142268707 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 142195997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 335 (M335I)

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: M335I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975
AA Change: M335I

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: M335I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975
AA Change: M335I

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

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.8%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg11	C	A	8: 22,558,095 (GRCm39)	A469E	probably benign	Het
Atp8a2	C	T	14: 60,097,641 (GRCm39)	V796I	probably benign	Het
Btnl1	T	G	17: 34,600,012 (GRCm39)	W172G	probably damaging	Het
Ceacam1	T	C	7: 25,176,899 (GRCm39)	T21A	probably damaging	Het
Dipk1b	A	G	2: 26,525,837 (GRCm39)	H257R	probably benign	Het
Frmpd1	A	C	4: 45,244,667 (GRCm39)	I119L	possibly damaging	Het
Haus6	A	T	4: 86,501,413 (GRCm39)	Y819*	probably null	Het
Ildr2	A	G	1: 166,131,175 (GRCm39)	R344G	probably damaging	Het
Irs1	T	C	1: 82,266,291 (GRCm39)	I642V	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Lum	T	C	10: 97,404,633 (GRCm39)	V176A	probably benign	Het
Nobox	A	G	6: 43,281,040 (GRCm39)	L478P	probably damaging	Het
Or10g6	T	A	9: 39,933,692 (GRCm39)	M1K	probably null	Het
Or4a67	T	A	2: 88,597,980 (GRCm39)	R226S	possibly damaging	Het
Or55b4	T	C	7: 102,133,583 (GRCm39)	H248R	probably damaging	Het
Or6b2b	A	G	1: 92,418,802 (GRCm39)	V225A	probably damaging	Het
Or7a42	A	T	10: 78,791,876 (GRCm39)	Y279F	probably damaging	Het
Rtn1	A	T	12: 72,455,136 (GRCm39)	C64S	probably benign	Het
Senp6	A	G	9: 80,029,260 (GRCm39)	Y285C	probably null	Het
Spg11	A	T	2: 121,927,840 (GRCm39)	I648K	probably damaging	Het
Ube3d	T	C	9: 86,305,027 (GRCm39)	I272V	probably benign	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	Het
Utrn	A	G	10: 12,566,622 (GRCm39)	V1180A	probably damaging	Het
Vill	T	C	9: 118,895,950 (GRCm39)		probably null	Het
Vmn2r101	T	C	17: 19,809,901 (GRCm39)	I229T	probably benign	Het
Zbtb8b	A	T	4: 129,326,293 (GRCm39)	L291M	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTTGTAGTTGTCACTGAGTCTCAC -3'
(R):5'- CTAGAACTTTAGCTCCAAGGGG -3'

Sequencing Primer
(F):5'- GTCACTGAGTCTCACCATCTTACTG -3'
(R):5'- TTAGCTCCAAGGGGTAAAGACCTATC -3'

Posted On

2014-12-04