Mutagenetix > Incidental Mutations

Incidental Mutation 'R2340:Slco1a4'

246704

Institutional Source

Beutler Lab

Gene Symbol

Slco1a4

Ensembl Gene

ENSMUSG00000030237

Gene Name

solute carrier organic anion transporter family, member 1a4

Synonyms

Oatp2, Oatp1a4, Slc21a5

MMRRC Submission

040326-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R2340 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141805440-141856199 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 141841377 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 28 (C28F)

Ref Sequence

ENSEMBL: ENSMUSP00000130746 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032364] [ENSMUST00000163678] [ENSMUST00000165990]

Predicted Effect

probably benign
Transcript: ENSMUST00000032364
AA Change: C28F

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

SMART Domains

Protein: ENSMUSP00000032364
Gene: ENSMUSG00000030237
AA Change: C28F

Domain	Start	End	E-Value	Type
Pfam:OATP	19	598	3.2e-196	PFAM
Pfam:MFS_1	22	421	9.2e-27	PFAM
Pfam:Kazal_2	445	486	5e-10	PFAM
transmembrane domain	600	622	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163678
AA Change: C28F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126767
Gene: ENSMUSG00000030237
AA Change: C28F

Domain	Start	End	E-Value	Type
Pfam:OATP	19	139	1.5e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165990
AA Change: C28F

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

SMART Domains

Protein: ENSMUSP00000130746
Gene: ENSMUSG00000030237
AA Change: C28F

Domain	Start	End	E-Value	Type
Pfam:OATP	21	597	3.2e-164	PFAM
Pfam:MFS_1	22	421	7.2e-27	PFAM
Pfam:Kazal_2	445	486	6.8e-11	PFAM
transmembrane domain	600	622	N/A	INTRINSIC

Meta Mutation Damage Score

0.0614

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

97% (37/38)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired organic anion transporter activity and urinary metabolomic profiles. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Abca13	A	T	11: 9,399,165	I3580F	probably damaging	Het
B3glct	A	G	5: 149,745,440	K280E	probably benign	Het
Chd6	TG	T	2: 160,965,759		probably null	Het
Clu	T	C	14: 65,980,909	V406A	probably damaging	Het
D930020B18Rik	A	G	10: 121,654,836	K114E	probably damaging	Het
Dsg1c	T	A	18: 20,267,888	D149E	probably damaging	Het
Fam189a1	A	G	7: 64,775,817	S176P	probably benign	Het
Fat2	A	T	11: 55,270,096	D3269E	possibly damaging	Het
Frmd4a	A	G	2: 4,586,376	D69G	probably damaging	Het
Hacd1	G	T	2: 14,035,887	P186T	probably damaging	Het
Hlx	G	T	1: 184,731,987	A52D	probably damaging	Het
Kif2c	A	G	4: 117,169,841	V320A	probably damaging	Het
Lypd2	T	A	15: 74,734,254	I12L	probably benign	Het
Midn	G	T	10: 80,150,112	R12L	possibly damaging	Het
Olfr11	T	C	13: 21,638,587	K312R	probably benign	Het
Olfr1497	A	G	19: 13,794,771	V280A	probably benign	Het
Olfr954	A	G	9: 39,461,809	Y126C	probably damaging	Het
Pkhd1	A	T	1: 20,200,855	V3158E	probably damaging	Het
Plxna2	C	T	1: 194,749,317	S538F	probably damaging	Het
Rad51d	T	C	11: 82,881,821	D206G	probably damaging	Het
Rcan1	A	G	16: 92,397,352	F58L	probably damaging	Het
Rnf145	T	C	11: 44,531,378	I96T	probably benign	Het
Rnf216	A	T	5: 143,080,334	F500I	probably damaging	Het
Rph3al	T	C	11: 75,833,432	T282A	probably benign	Het
Serpina11	T	C	12: 103,984,743	R240G	probably benign	Het
Slc12a2	T	A	18: 57,900,050	I400N	probably benign	Het
Sned1	T	A	1: 93,256,452	I134N	probably damaging	Het
Spock3	T	A	8: 63,345,713	M253K	probably damaging	Het
Tmem184b	T	A	15: 79,378,532	M42L	probably benign	Het
Tnnt1	G	A	7: 4,513,616		probably benign	Het
Ttll5	T	A	12: 85,892,148	S407T	probably benign	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Vmn2r112	T	A	17: 22,603,115	V258E	probably damaging	Het
Zfat	T	C	15: 68,101,541	E1117G	probably damaging	Het
Zfp606	A	G	7: 12,493,089	E321G	possibly damaging	Het

Other mutations in Slco1a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00976:Slco1a4	APN	6	141807182	critical splice acceptor site	probably null
IGL01573:Slco1a4	APN	6	141812851	splice site	probably benign
IGL01735:Slco1a4	APN	6	141817751	missense	probably benign	0.00
IGL03115:Slco1a4	APN	6	141819603	missense	probably benign	0.05
IGL03115:Slco1a4	APN	6	141817859	missense	probably damaging	1.00
R0062:Slco1a4	UTSW	6	141819479	nonsense	probably null
R0062:Slco1a4	UTSW	6	141819479	nonsense	probably null
R0305:Slco1a4	UTSW	6	141817753	missense	possibly damaging	0.47
R0511:Slco1a4	UTSW	6	141830860	splice site	probably benign
R0660:Slco1a4	UTSW	6	141812741	missense	probably benign	0.05
R0664:Slco1a4	UTSW	6	141812741	missense	probably benign	0.05
R1589:Slco1a4	UTSW	6	141845447	missense	probably benign
R1606:Slco1a4	UTSW	6	141839611	missense	probably damaging	1.00
R1665:Slco1a4	UTSW	6	141839577	missense	possibly damaging	0.79
R1742:Slco1a4	UTSW	6	141825045	missense	probably benign	0.07
R1763:Slco1a4	UTSW	6	141812731	missense	probably benign	0.26
R1893:Slco1a4	UTSW	6	141834616	splice site	probably null
R1908:Slco1a4	UTSW	6	141815447	critical splice donor site	probably null
R1944:Slco1a4	UTSW	6	141839550	missense	probably benign	0.00
R2144:Slco1a4	UTSW	6	141809378	missense	probably damaging	1.00
R2276:Slco1a4	UTSW	6	141815582	missense	possibly damaging	0.49
R3017:Slco1a4	UTSW	6	141812670	splice site	probably null
R3769:Slco1a4	UTSW	6	141839631	missense	probably damaging	1.00
R4577:Slco1a4	UTSW	6	141819540	missense	probably damaging	0.97
R4650:Slco1a4	UTSW	6	141812698	missense	possibly damaging	0.94
R4801:Slco1a4	UTSW	6	141845497	start gained	probably benign
R4802:Slco1a4	UTSW	6	141845497	start gained	probably benign
R4896:Slco1a4	UTSW	6	141815505	missense	possibly damaging	0.91
R5126:Slco1a4	UTSW	6	141815582	missense	possibly damaging	0.94
R5183:Slco1a4	UTSW	6	141839631	missense	probably damaging	1.00
R5399:Slco1a4	UTSW	6	141830707	missense	probably damaging	0.98
R5645:Slco1a4	UTSW	6	141834659	missense	possibly damaging	0.95
R5650:Slco1a4	UTSW	6	141809394	missense	possibly damaging	0.69
R5832:Slco1a4	UTSW	6	141819544	missense	probably benign	0.00
R6180:Slco1a4	UTSW	6	141817820	missense	possibly damaging	0.95
R6415:Slco1a4	UTSW	6	141834689	nonsense	probably null
R6992:Slco1a4	UTSW	6	141819604	missense	probably benign	0.05
R7024:Slco1a4	UTSW	6	141834708	missense	probably benign	0.00
R7696:Slco1a4	UTSW	6	141810511	nonsense	probably null
R7751:Slco1a4	UTSW	6	141834687	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- TTCTTCACAGCAAACCAGGC -3'
(R):5'- TCTAGAGCAAGGACAGCATAGC -3'

Sequencing Primer
(F):5'- TCAGAAAGCATGGATCTCAGTC -3'
(R):5'- CAGCATAGCAGAGGAGAGATTACAC -3'

Posted On

2014-10-30