Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01304:Slco1a5'

73353

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

Oatp3, Slc21a7

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

IGL01304

Quality Score

Status

Chromosome

Chromosomal Location

142234227-142322981 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 142242150 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 488 (Q488K)

Ref Sequence

ENSEMBL: ENSMUSP00000137607 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000081380
AA Change: Q488K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975
AA Change: Q488K

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
AA Change: Q488K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975
AA Change: Q488K

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

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,215,721	D79E	probably benign	Het
Aplf	A	C	6: 87,641,900	S421A	possibly damaging	Het
Arnt	T	G	3: 95,448,385	D13E	probably damaging	Het
Asap1	T	C	15: 64,312,449	E45G	probably damaging	Het
C2cd2l	T	C	9: 44,319,587	N101S	probably damaging	Het
Chmp7	G	A	14: 69,718,613	P402L	probably benign	Het
Cir1	A	T	2: 73,287,724		probably null	Het
Clock	A	G	5: 76,266,355		probably null	Het
Col18a1	T	G	10: 77,076,141		probably benign	Het
Csf2ra	G	A	19: 61,226,833	H115Y	possibly damaging	Het
Cspg5	T	A	9: 110,256,168	L469H	probably damaging	Het
Dapk2	T	C	9: 66,231,857		probably benign	Het
F13a1	T	C	13: 36,988,878	D176G	probably benign	Het
Fbn2	T	C	18: 58,061,745	E1448G	probably damaging	Het
Gtf2b	C	T	3: 142,781,598	S265L	probably benign	Het
Hmcn1	C	T	1: 150,622,924	G4068D	probably damaging	Het
Krt81	G	A	15: 101,463,388	H104Y	probably benign	Het
Ksr1	T	C	11: 79,027,642	Q562R	probably damaging	Het
Lrif1	C	T	3: 106,731,733	P20S	probably damaging	Het
Mamdc4	T	C	2: 25,563,576	T1194A	possibly damaging	Het
Med18	C	A	4: 132,459,619	A190S	probably damaging	Het
Mia2	G	A	12: 59,104,538	E105K	probably damaging	Het
Mnt	T	A	11: 74,842,185	Y48N	probably damaging	Het
Mpp4	A	C	1: 59,149,519		probably null	Het
Olfr1272	G	A	2: 90,282,081	P165S	possibly damaging	Het
Popdc3	T	G	10: 45,317,909	S269A	probably benign	Het
Ppp6r3	A	T	19: 3,467,261	M662K	probably damaging	Het
Qser1	C	A	2: 104,787,631	Q945H	probably damaging	Het
Rad52	A	G	6: 119,918,633	E198G	probably damaging	Het
Ranbp17	A	G	11: 33,266,147	V867A	possibly damaging	Het
Rdh16	G	T	10: 127,813,496	A274S	probably benign	Het
Snai2	T	C	16: 14,706,771	I47T	probably benign	Het
Snw1	T	C	12: 87,453,915	D358G	possibly damaging	Het
Speg	T	C	1: 75,428,197	F2878L	probably benign	Het
Spert	T	A	14: 75,592,645	D36V	possibly damaging	Het
Spg11	T	C	2: 122,072,290	Y1386C	probably damaging	Het
Tgfb2	A	C	1: 186,625,473	I435S	probably damaging	Het
Ttc9b	G	A	7: 27,655,985	D227N	probably benign	Het
Txndc2	T	C	17: 65,638,453	E243G	possibly damaging	Het
Usp28	A	G	9: 49,026,819	D563G	probably damaging	Het
Vmn1r77	T	C	7: 12,042,035	V178A	probably damaging	Het
Zfp316	A	G	5: 143,254,426	F613L	probably benign	Het
Zfp870	A	T	17: 32,883,006	C450S	possibly damaging	Het

Other mutations in Slco1a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5644: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	intron	probably null
R7579:Slco1a5	UTSW	6	142275481	missense	probably benign	0.00
R8117:Slco1a5	UTSW	6	142262692	missense	probably damaging	1.00

Posted On

2013-10-07