Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03115:Slco1a4'

419363

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slco1a4

Ensembl Gene

ENSMUSG00000030237

Gene Name

solute carrier organic anion transporter family, member 1a4

Synonyms

Oatp2, Oatp1a4, Slc21a5

Accession Numbers

Is this an essential gene?

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

Stock #

IGL03115

Quality Score

Status

Chromosome

Chromosomal Location

141805440-141856199 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 141817859 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 377 (M377R)

Ref Sequence

ENSEMBL: ENSMUSP00000130746 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000032364
AA Change: M377R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032364
Gene: ENSMUSG00000030237
AA Change: M377R

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 damaging
Transcript: ENSMUST00000165990
AA Change: M377R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130746
Gene: ENSMUSG00000030237
AA Change: M377R

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

Coding Region Coverage

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	T	A	14: 68,571,353	H302L	probably damaging	Het
Adamts12	T	A	15: 11,263,336	C595S	probably damaging	Het
Arid2	G	A	15: 96,370,273	V756I	probably damaging	Het
Asah1	A	T	8: 41,360,299	W26R	possibly damaging	Het
Brinp1	C	T	4: 68,904,736		probably null	Het
Cers2	A	G	3: 95,321,352	D162G	probably damaging	Het
Clasp1	G	T	1: 118,501,323	E106*	probably null	Het
Col12a1	T	C	9: 79,681,437	E1132G	probably damaging	Het
Dhdds	G	T	4: 133,982,871	H196N	probably benign	Het
Eps8	T	C	6: 137,527,381	D118G	probably damaging	Het
Fmo9	A	G	1: 166,677,651	S7P	probably damaging	Het
Gamt	A	G	10: 80,258,438	L197P	probably damaging	Het
Grb7	A	G	11: 98,451,119	I82V	probably damaging	Het
Hectd2	T	C	19: 36,599,721		probably null	Het
Ilk	T	C	7: 105,740,335	V83A	probably damaging	Het
Kif21a	T	A	15: 90,985,395	I418F	probably damaging	Het
Kndc1	A	G	7: 139,921,509	I905V	probably benign	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Morc3	T	C	16: 93,871,083	I710T	probably damaging	Het
Nefm	T	C	14: 68,120,279		probably benign	Het
Olfr452	A	G	6: 42,790,665	T209A	probably benign	Het
Olfr937	C	A	9: 39,059,963	R234S	probably damaging	Het
Olfr975	T	C	9: 39,950,744	E9G	probably damaging	Het
Pard6g	T	G	18: 80,079,853	L34W	probably damaging	Het
Patj	C	T	4: 98,443,803	S562L	probably damaging	Het
Pcsk4	A	G	10: 80,329,049	I61T	probably damaging	Het
Pcsk7	T	A	9: 45,914,372	H300Q	probably damaging	Het
Pip5kl1	A	G	2: 32,580,021	D288G	probably damaging	Het
Plxnb2	T	A	15: 89,162,438		probably benign	Het
Poldip2	T	C	11: 78,521,144		probably benign	Het
Ralgapa2	T	C	2: 146,424,814	Y614C	probably damaging	Het
Rarres1	C	A	3: 67,495,812		probably null	Het
Samd3	C	T	10: 26,271,708	T427M	probably damaging	Het
Skap1	A	G	11: 96,702,620	I98V	probably benign	Het
Skint11	T	C	4: 114,244,623	S87P	probably damaging	Het
Slc22a22	T	G	15: 57,263,274	E133A	probably damaging	Het
Slc23a2	T	C	2: 132,091,265	Y91C	probably damaging	Het
Slc6a20b	T	A	9: 123,597,338	E494V	possibly damaging	Het
Srpk2	T	C	5: 23,524,618		probably null	Het
Supt3	T	G	17: 45,041,227	C271W	probably damaging	Het
Taar7d	C	A	10: 24,027,641	F140L	probably benign	Het
Tmbim7	T	C	5: 3,679,158	*225Q	probably null	Het
Tpst1	T	C	5: 130,101,911	I74T	probably damaging	Het
Utp3	T	C	5: 88,555,320	V236A	possibly damaging	Het
Vmn2r55	A	T	7: 12,670,631	F282I	probably damaging	Het
Vwa5b1	A	T	4: 138,600,149	I372N	possibly damaging	Het
Wtip	C	T	7: 34,125,533	A209T	probably damaging	Het
Zbbx	T	C	3: 75,078,560	D395G	probably benign	Het
Zfp273	A	T	13: 67,825,650	H299L	probably damaging	Het
Zfp459	G	A	13: 67,408,677	R96*	probably null	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
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
R2340:Slco1a4	UTSW	6	141841377	missense	probably benign	0.00
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

Posted On

2016-08-02