Mutagenetix > Incidental Mutations

Incidental Mutation 'R5183:Slco1a4'

397664

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

042762-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5183 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141805440-141856199 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 141839631 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 78 (Y78N)

Ref Sequence

ENSEMBL: ENSMUSP00000130746 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000032364
AA Change: Y78N

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

SMART Domains

Protein: ENSMUSP00000032364
Gene: ENSMUSG00000030237
AA Change: Y78N

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: ENSMUST00000163678
AA Change: Y78N

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

SMART Domains

Protein: ENSMUSP00000126767
Gene: ENSMUSG00000030237
AA Change: Y78N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000165990
AA Change: Y78N

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

SMART Domains

Protein: ENSMUSP00000130746
Gene: ENSMUSG00000030237
AA Change: Y78N

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

0.9294

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (73/74)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,739,305	D8E	probably damaging	Het
Abca3	T	G	17: 24,374,453	S275A	probably benign	Het
Adk	A	G	14: 21,240,531	N155S	probably damaging	Het
Aqp11	T	C	7: 97,737,756	T78A	probably benign	Het
Arhgef40	T	C	14: 52,004,099	V1455A	probably damaging	Het
Asxl3	C	G	18: 22,525,299	A2122G	possibly damaging	Het
Cdan1	T	A	2: 120,729,580	I368F	probably damaging	Het
Cdc42bpg	A	G	19: 6,321,805		probably benign	Het
Celsr3	A	G	9: 108,837,560	D2013G	probably damaging	Het
Cep152	A	G	2: 125,566,638	V1332A	probably damaging	Het
Cftr	T	C	6: 18,299,833	S1172P	probably damaging	Het
Commd2	A	T	3: 57,646,814	D155E	probably benign	Het
Coq7	T	A	7: 118,528,267		probably benign	Het
Dnase2a	T	C	8: 84,909,578		probably benign	Het
Dnhd1	G	A	7: 105,703,209	R2523Q	probably damaging	Het
Dock6	C	T	9: 21,841,603	V305I	probably benign	Het
Ehmt1	G	T	2: 24,877,497	P135T	probably damaging	Het
Fasn	T	C	11: 120,808,882	Q2288R	probably benign	Het
Fat3	T	A	9: 15,960,313	N3594I	probably damaging	Het
Galnt10	T	C	11: 57,769,588	M284T	probably damaging	Het
Gatm	A	T	2: 122,595,503	F422L	probably benign	Het
Glrp1	A	T	1: 88,509,852	I12N	unknown	Het
Gm5455	T	A	13: 110,305,428		noncoding transcript	Het
Gm6768	A	C	12: 119,261,288		noncoding transcript	Het
Gm884	T	C	11: 103,543,121	Y898C	probably damaging	Het
Gpam	C	T	19: 55,083,227	E361K	probably damaging	Het
Gps2	A	G	11: 69,915,197	T126A	probably benign	Het
Grn	C	A	11: 102,430,554		probably benign	Het
Gsg1	T	A	6: 135,241,370	Q176L	probably damaging	Het
Htra1	C	T	7: 130,983,716	A412V	possibly damaging	Het
Icosl	C	T	10: 78,069,485		probably benign	Het
Iqgap1	T	C	7: 80,723,065	T1509A	probably damaging	Het
Itgad	T	C	7: 128,198,223		probably null	Het
Kdm5a	C	A	6: 120,430,016		probably benign	Het
Kidins220	T	C	12: 25,051,126	L1017S	probably benign	Het
Lrmp	A	G	6: 145,138,220	E37G	probably benign	Het
Man2b1	T	A	8: 85,095,784	S804R	probably damaging	Het
Miip	A	T	4: 147,863,069	F211L	probably damaging	Het
Moxd1	T	G	10: 24,279,547		probably null	Het
Moxd1	T	G	10: 24,287,136	Y499D	probably damaging	Het
Mrpl45	T	C	11: 97,316,751	I24T	probably benign	Het
Msh2	C	A	17: 87,723,413	A906E	probably benign	Het
Mthfr	T	A	4: 148,051,360		probably null	Het
Muc5b	T	A	7: 141,850,810	D827E	unknown	Het
Myo1g	G	C	11: 6,508,243	L866V	probably damaging	Het
Myo3a	A	T	2: 22,578,158	M475L	probably benign	Het
Ncoa2	A	C	1: 13,174,366	L703V	probably damaging	Het
Nme6	T	A	9: 109,841,489	Y69*	probably null	Het
Nwd1	T	A	8: 72,671,086	M651K	probably benign	Het
Olfr726	A	C	14: 50,084,546	I45S	probably damaging	Het
Orc2	A	T	1: 58,474,818	S298R	possibly damaging	Het
Oscp1	A	T	4: 126,087,729	E328V	probably damaging	Het
Pan2	T	C	10: 128,317,969	V1003A	probably damaging	Het
Pik3r4	T	C	9: 105,682,308	V1200A	possibly damaging	Het
Prl	T	C	13: 27,057,596		probably benign	Het
Ptprk	T	C	10: 28,475,236	V575A	probably benign	Het
Rflna	A	T	5: 125,011,405	S139C	probably damaging	Het
Robo1	T	C	16: 72,742,150	F27S	probably benign	Het
Secisbp2	T	C	13: 51,665,424	S347P	probably benign	Het
Shmt1	A	G	11: 60,797,482		probably benign	Het
Slc27a3	A	G	3: 90,389,170		probably null	Het
Slc6a5	T	C	7: 49,936,209	V425A	probably damaging	Het
Slc8a3	A	G	12: 81,314,491	V518A	possibly damaging	Het
Stt3b	A	T	9: 115,266,143	H273Q	probably damaging	Het
Tle6	T	A	10: 81,592,801	N431I	probably damaging	Het
Trim34b	C	A	7: 104,329,911	Q122K	possibly damaging	Het
Trio	C	A	15: 27,902,600	R258S	probably benign	Het
Ttc7	A	T	17: 87,292,878	D23V	probably damaging	Het
Ttn	A	T	2: 76,980,181	M1K	probably null	Het
Ufsp2	T	C	8: 45,994,089	V391A	probably benign	Het
Vps13c	T	C	9: 67,908,052	L990S	probably damaging	Het
Zfp108	G	T	7: 24,260,738	K251N	probably benign	Het
Zfp618	G	A	4: 63,099,282	M234I	probably benign	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
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
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'- CCCAAGAGGAAATTCTGAGCC -3'
(R):5'- TGTGGTGGTGAAACAATGAACC -3'

Sequencing Primer
(F):5'- GAGGAAATTCTGAGCCTCATTTCC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'

Posted On

2016-07-06