Mutagenetix > Incidental Mutations

Incidental Mutation 'R8743:Slco1a4'

663342

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R8743 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

141805440-141856199 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 141819529 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 329 (V329D)

Ref Sequence

ENSEMBL: ENSMUSP00000130746 (fasta)

Gene Model

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

AlphaFold

Q9EP96

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032364
AA Change: V329D

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032364
Gene: ENSMUSG00000030237
AA Change: V329D

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

possibly damaging
Transcript: ENSMUST00000165990
AA Change: V329D

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130746
Gene: ENSMUSG00000030237
AA Change: V329D

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

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.7%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	G	4: 42,971,030	H121R	probably benign	Het
4930430A15Rik	T	C	2: 111,169,672	T198A	unknown	Het
Adam5	A	T	8: 24,786,248	C468S	probably damaging	Het
Adamts7	G	A	9: 90,195,243	R1321H	probably damaging	Het
Adra2c	T	C	5: 35,280,448	V188A	possibly damaging	Het
Ampd2	C	A	3: 108,080,116	V134L	probably benign	Het
Ap1g1	A	G	8: 109,837,791	N323D	probably damaging	Het
Arhgap15	A	T	2: 43,748,864		probably benign	Het
Arhgef33	T	C	17: 80,360,453		probably null	Het
Armc1	C	T	3: 19,157,536	C40Y	probably benign	Het
Arsk	C	A	13: 76,066,809	V309F	probably damaging	Het
Atp4b	A	T	8: 13,393,489	M63K	probably damaging	Het
Cacna1s	T	C	1: 136,105,548	L1237P	probably damaging	Het
Ccnt2	A	G	1: 127,774,283	E19G	probably damaging	Het
Ccr2	A	C	9: 124,106,094	Y137S	probably damaging	Het
Cdc40	C	T	10: 40,841,484	D404N	probably damaging	Het
Cfh	A	T	1: 140,118,585		probably null	Het
Chd5	T	A	4: 152,366,405	V662E	probably benign	Het
Cnga4	A	G	7: 105,408,013	D544G	probably benign	Het
Col6a3	C	G	1: 90,767,606		probably benign	Het
Coro6	T	A	11: 77,466,439	I158N	probably damaging	Het
Cpa1	A	G	6: 30,642,993	S307G	probably damaging	Het
Depdc5	T	A	5: 32,924,243	M583K	probably benign	Het
Dock2	G	T	11: 34,273,252	S1170*	probably null	Het
Dusp16	A	T	6: 134,717,970	S633T	probably benign	Het
Esco1	T	C	18: 10,572,123	E739G	probably damaging	Het
Fam193a	T	A	5: 34,420,157		probably null	Het
Fam71e2	T	A	7: 4,757,815	T633S		Het
Fat4	G	A	3: 38,888,443	S495N	probably benign	Het
Galnt10	A	G	11: 57,784,583	Y556C	probably damaging	Het
Gc	A	T	5: 89,443,452	D142E	probably benign	Het
Gda	A	T	19: 21,400,588	F369Y	probably damaging	Het
Glce	A	T	9: 62,060,821	S349R	probably benign	Het
Glp2r	A	G	11: 67,722,075	L351P	probably damaging	Het
Gtf2h5	C	CA	17: 6,084,558		probably null	Het
Gxylt2	A	T	6: 100,787,323	Y323F	probably benign	Het
Hmmr	T	C	11: 40,708,031	N589D	probably damaging	Het
Hsd17b3	A	C	13: 64,062,898	D214E	probably benign	Het
Kat6a	A	G	8: 22,939,006	D1459G	possibly damaging	Het
Lad1	G	A	1: 135,831,195	R465H	probably benign	Het
Lcmt1	T	A	7: 123,400,468	D46E	probably damaging	Het
Map4k1	G	A	7: 28,987,117	D155N	probably damaging	Het
Mylk	G	T	16: 34,921,057	R796L	probably benign	Het
Nat8l	T	A	5: 33,997,166	L108Q	probably damaging	Het
Nlrp5	T	C	7: 23,418,747	V632A	probably benign	Het
Nr3c2	A	G	8: 76,909,758	E496G	probably damaging	Het
Nucb2	A	G	7: 116,528,830	D258G	probably damaging	Het
Olfr874	G	T	9: 37,746,878	C248F	probably benign	Het
Olfr923	A	T	9: 38,827,699	I3F	probably benign	Het
Papln	A	G	12: 83,782,990	K962E	probably damaging	Het
Pcdha8	T	A	18: 36,994,319	M618K	probably benign	Het
Pclo	A	G	5: 14,714,566	D1066G		Het
Phip	A	T	9: 82,927,087	M446K	probably benign	Het
Pkn3	A	G	2: 30,083,306	K380R	probably benign	Het
Ppa1	C	A	10: 61,660,979	A82E	possibly damaging	Het
Prune2	A	C	19: 17,119,556	D808A	probably benign	Het
Psme4	T	G	11: 30,878,467	L1829R	probably damaging	Het
Rtp4	A	C	16: 23,613,116	K133Q	possibly damaging	Het
Scaf11	C	T	15: 96,415,788	A1371T	probably benign	Het
Serpinb9g	A	T	13: 33,494,948	H267L	probably benign	Het
Slc47a2	T	G	11: 61,342,762	D6A	probably benign	Het
Smg6	T	C	11: 74,930,033	S377P	probably benign	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,317,519		probably benign	Het
Taar2	A	T	10: 23,941,471	Y303F	probably damaging	Het
Tgm6	A	G	2: 130,143,498	D407G	probably damaging	Het
Twf2	A	G	9: 106,212,811	E153G	possibly damaging	Het
Upb1	A	G	10: 75,439,876	Y365C	probably damaging	Het
Vmn2r4	A	T	3: 64,409,826	S164T	possibly damaging	Het
Wtip	C	T	7: 34,125,554	G202R	possibly damaging	Het
Zfhx4	G	A	3: 5,244,024	C770Y	probably 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
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
R9173:Slco1a4	UTSW	6	141815573	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ATCATGCACTTGAGGATAGATACTG -3'
(R):5'- TTGTCACAGCACAGAATCCATG -3'

Sequencing Primer
(F):5'- TTGGCCCATATGAAGTGGCAC -3'
(R):5'- CAGCACAGAATCCATGAGATTTTAGG -3'

Posted On

2021-03-08