Mutagenetix > Incidental Mutation

Incidental Mutation 'R0360:Slco1a8'

30043

Institutional Source

Beutler Lab

Gene Symbol

Slco1a8

Ensembl Gene

ENSMUSG00000079263

Gene Name

solute carrier organic anion transporter family, member 1a8

Synonyms

Gm6614

MMRRC Submission

038566-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R0360 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141971845-142011414 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 141982327 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137696 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111832] [ENSMUST00000181628] [ENSMUST00000181791]

AlphaFold

M0QWR8

Predicted Effect

probably benign
Transcript: ENSMUST00000111832

SMART Domains

Protein: ENSMUSP00000107463
Gene: ENSMUSG00000079263

Domain	Start	End	E-Value	Type
Pfam:OATP	1	577	2.5e-156	PFAM
Pfam:MFS_1	125	402	1e-23	PFAM
Pfam:Kazal_2	425	466	4.1e-9	PFAM
transmembrane domain	580	602	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158991

Predicted Effect

probably benign
Transcript: ENSMUST00000181628

SMART Domains

Protein: ENSMUSP00000137967
Gene: ENSMUSG00000079263

Domain	Start	End	E-Value	Type
Pfam:OATP	19	598	2.8e-187	PFAM
Pfam:MFS_1	145	422	8e-24	PFAM
Pfam:Kazal_2	445	486	1.1e-7	PFAM
transmembrane domain	600	622	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000181791

SMART Domains

Protein: ENSMUSP00000137696
Gene: ENSMUSG00000079263

Domain	Start	End	E-Value	Type
Pfam:OATP	1	578	2.3e-186	PFAM
Pfam:MFS_1	125	402	8.6e-24	PFAM
Pfam:Kazal_2	425	466	1.4e-7	PFAM
transmembrane domain	580	602	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.2%
20x: 92.6%

Validation Efficiency

98% (93/95)

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,611,128 (GRCm38)		probably benign	Het
Adcyap1r1	G	T	6: 55,475,523 (GRCm38)		probably benign	Het
Ankrd6	T	C	4: 32,836,424 (GRCm38)	T44A	probably damaging	Het
Ano7	A	G	1: 93,388,658 (GRCm38)	D221G	probably benign	Het
Bhlhe40	C	A	6: 108,664,750 (GRCm38)	N218K	probably damaging	Het
Bms1	A	G	6: 118,405,290 (GRCm38)	V429A	probably benign	Het
C7	T	A	15: 4,988,962 (GRCm38)	T800S	probably benign	Het
Camta2	G	A	11: 70,683,310 (GRCm38)	T127I	probably damaging	Het
Ccdc13	T	A	9: 121,798,216 (GRCm38)	N665I	probably damaging	Het
Ccdc157	T	C	11: 4,146,663 (GRCm38)	E362G	probably damaging	Het
Ccdc73	T	A	2: 104,981,007 (GRCm38)	N310K	probably damaging	Het
Cfap91	T	A	16: 38,298,297 (GRCm38)		probably null	Het
Cmklr1	A	T	5: 113,614,517 (GRCm38)	L141H	probably damaging	Het
Cnst	C	A	1: 179,579,535 (GRCm38)	A49E	probably benign	Het
Col5a3	C	T	9: 20,772,466 (GRCm38)	R1498Q	unknown	Het
Crybb3	T	A	5: 113,075,953 (GRCm38)	I197F	probably damaging	Het
Cryzl1	G	A	16: 91,707,267 (GRCm38)	P97S	probably benign	Het
Cubn	T	C	2: 13,310,507 (GRCm38)		probably benign	Het
Cyp2d37-ps	T	C	15: 82,690,052 (GRCm38)		noncoding transcript	Het
Cyp4a12b	C	A	4: 115,432,920 (GRCm38)	N223K	probably benign	Het
D16Ertd472e	A	T	16: 78,547,885 (GRCm38)	C112S	probably benign	Het
Dennd2a	T	C	6: 39,508,299 (GRCm38)	T349A	probably benign	Het
Dock5	G	A	14: 67,822,680 (GRCm38)		probably benign	Het
Dpp6	T	C	5: 27,652,269 (GRCm38)	L404P	probably damaging	Het
Dsc3	T	A	18: 19,971,582 (GRCm38)	T563S	possibly damaging	Het
Dync2h1	T	A	9: 7,113,182 (GRCm38)	E214D	possibly damaging	Het
Elac2	A	G	11: 64,979,310 (GRCm38)	Y67C	probably damaging	Het
Elmo1	A	T	13: 20,564,493 (GRCm38)	K503*	probably null	Het
Eng	T	C	2: 32,679,137 (GRCm38)	S559P	probably benign	Het
Epc2	T	A	2: 49,537,133 (GRCm38)	V563E	possibly damaging	Het
Fancm	A	G	12: 65,075,950 (GRCm38)	Y82C	probably damaging	Het
Flt4	A	T	11: 49,636,991 (GRCm38)	M924L	probably benign	Het
Gabpa	T	A	16: 84,857,387 (GRCm38)	N317K	possibly damaging	Het
Gchfr	T	G	2: 119,167,846 (GRCm38)	Y3*	probably null	Het
Gli3	G	T	13: 15,724,764 (GRCm38)	G912V	probably benign	Het
Gm10295	C	A	7: 71,350,613 (GRCm38)	C73F	unknown	Het
Gm10382	G	T	5: 125,389,664 (GRCm38)		probably benign	Het
Gp1ba	T	C	11: 70,640,458 (GRCm38)		probably benign	Het
Gpr146	G	A	5: 139,379,178 (GRCm38)		probably benign	Het
Hexd	T	A	11: 121,212,143 (GRCm38)	H62Q	probably benign	Het
Hgd	T	A	16: 37,611,184 (GRCm38)		probably benign	Het
Hs6st1	G	A	1: 36,069,185 (GRCm38)		probably null	Het
Icam4	A	G	9: 21,029,821 (GRCm38)	Y123C	probably damaging	Het
Il24	A	G	1: 130,883,937 (GRCm38)	V134A	probably damaging	Het
Iqcb1	G	T	16: 36,872,308 (GRCm38)	A562S	probably damaging	Het
Iqgap2	A	C	13: 95,731,275 (GRCm38)		probably benign	Het
Islr2	T	C	9: 58,199,744 (GRCm38)	T78A	possibly damaging	Het
Kif1b	A	G	4: 149,262,729 (GRCm38)	I330T	probably damaging	Het
Kirrel1	T	C	3: 87,089,799 (GRCm38)	Y287C	probably damaging	Het
Klf10	C	T	15: 38,296,846 (GRCm38)	V317M	probably benign	Het
Klhl9	T	G	4: 88,720,290 (GRCm38)	K571N	probably benign	Het
Lin37	T	C	7: 30,557,013 (GRCm38)	I97V	possibly damaging	Het
Lrrc37a	C	T	11: 103,500,640 (GRCm38)	V1320I	possibly damaging	Het
Lrrc74a	A	G	12: 86,737,795 (GRCm38)	H99R	probably damaging	Het
Me3	T	A	7: 89,786,414 (GRCm38)		probably null	Het
Med13	T	C	11: 86,329,161 (GRCm38)		probably benign	Het
Myh6	A	T	14: 54,948,347 (GRCm38)	Y1490*	probably null	Het
Myo10	T	C	15: 25,804,368 (GRCm38)	L1583P	probably damaging	Het
Nkx6-3	A	G	8: 23,157,706 (GRCm38)	E227G	possibly damaging	Het
Nlrp1a	T	A	11: 71,114,004 (GRCm38)		probably benign	Het
Nlrp5-ps	A	C	7: 14,583,091 (GRCm38)		noncoding transcript	Het
Nup188	T	G	2: 30,326,479 (GRCm38)	I765S	probably null	Het
Obscn	G	A	11: 59,128,281 (GRCm38)	A969V	probably benign	Het
Or11a4	T	C	17: 37,226,043 (GRCm38)	L306P	possibly damaging	Het
Or1j19	T	A	2: 36,787,440 (GRCm38)	M305K	probably benign	Het
Or5a1	G	T	19: 12,119,853 (GRCm38)	D286E	possibly damaging	Het
Or8k33	A	T	2: 86,553,779 (GRCm38)	L115Q	probably damaging	Het
Otogl	T	A	10: 107,770,650 (GRCm38)		probably benign	Het
Pcnx3	G	A	19: 5,665,583 (GRCm38)	R1472W	probably damaging	Het
Plekha5	G	A	6: 140,591,747 (GRCm38)	R646K	possibly damaging	Het
Plscr4	T	A	9: 92,488,761 (GRCm38)		probably benign	Het
Pon2	G	A	6: 5,266,156 (GRCm38)	Q288*	probably null	Het
Ptpn13	C	A	5: 103,533,348 (GRCm38)	R805S	probably damaging	Het
Pyroxd2	A	T	19: 42,747,553 (GRCm38)	V62D	probably damaging	Het
Rab37	G	T	11: 115,156,964 (GRCm38)	C44F	probably damaging	Het
Rbm44	T	C	1: 91,152,347 (GRCm38)	S52P	probably benign	Het
Rgl3	A	G	9: 21,976,857 (GRCm38)	W454R	probably damaging	Het
Rita1	A	G	5: 120,609,772 (GRCm38)	S154P	probably benign	Het
Scn5a	T	C	9: 119,522,599 (GRCm38)	D772G	probably damaging	Het
Sec23ip	G	A	7: 128,761,405 (GRCm38)		probably benign	Het
Skic8	A	T	9: 54,727,578 (GRCm38)		probably benign	Het
Slc23a1	T	A	18: 35,622,979 (GRCm38)		probably benign	Het
Sparcl1	T	A	5: 104,089,637 (GRCm38)	D444V	probably damaging	Het
Taar6	C	A	10: 23,985,148 (GRCm38)	V167L	probably benign	Het
Tmcc3	T	A	10: 94,578,545 (GRCm38)	N36K	probably benign	Het
Tmem200c	T	A	17: 68,840,548 (GRCm38)	V42E	probably damaging	Het
Trhde	T	C	10: 114,502,982 (GRCm38)		probably benign	Het
Tshz3	A	G	7: 36,770,533 (GRCm38)	E649G	probably benign	Het
Utp4	T	C	8: 106,898,537 (GRCm38)		probably benign	Het
Vmn1r30	A	G	6: 58,435,277 (GRCm38)	V190A	probably benign	Het
Vmn1r35	A	G	6: 66,678,843 (GRCm38)	I281T	probably damaging	Het
Vmn1r58	G	T	7: 5,410,330 (GRCm38)	H300Q	probably benign	Het
Vmn1r84	A	G	7: 12,361,872 (GRCm38)	L286P	probably damaging	Het
Vmn2r54	A	T	7: 12,615,649 (GRCm38)	C669S	probably damaging	Het
Zfp623	T	C	15: 75,948,661 (GRCm38)	S489P	probably benign	Het

Other mutations in Slco1a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01354:Slco1a8	APN	6	141,990,408 (GRCm38)	missense	probably benign	0.00
IGL01548:Slco1a8	APN	6	141,992,512 (GRCm38)	missense	possibly damaging	0.82
IGL01552:Slco1a8	APN	6	141,987,706 (GRCm38)	missense	possibly damaging	0.54
IGL02207:Slco1a8	APN	6	141,990,432 (GRCm38)	missense	possibly damaging	0.80
IGL02227:Slco1a8	APN	6	141,993,675 (GRCm38)	nonsense	probably null
IGL02547:Slco1a8	APN	6	141,990,390 (GRCm38)	missense	probably damaging	0.99
IGL02678:Slco1a8	APN	6	142,008,718 (GRCm38)	missense	probably damaging	1.00
IGL02695:Slco1a8	APN	6	141,987,760 (GRCm38)	missense	probably damaging	1.00
IGL02851:Slco1a8	APN	6	142,003,471 (GRCm38)	missense	probably damaging	1.00
IGL02881:Slco1a8	APN	6	141,972,243 (GRCm38)	missense	probably benign	0.00
IGL02898:Slco1a8	APN	6	141,994,297 (GRCm38)	missense	probably benign	0.01
IGL03036:Slco1a8	APN	6	142,008,607 (GRCm38)	missense	possibly damaging	0.69
IGL03065:Slco1a8	APN	6	141,992,502 (GRCm38)	missense	probably damaging	0.99
IGL03300:Slco1a8	APN	6	141,994,806 (GRCm38)	missense	probably damaging	0.96
R0020:Slco1a8	UTSW	6	141,972,350 (GRCm38)	missense	possibly damaging	0.93
R0020:Slco1a8	UTSW	6	141,972,350 (GRCm38)	missense	possibly damaging	0.93
R0049:Slco1a8	UTSW	6	141,990,421 (GRCm38)	missense	probably benign
R0049:Slco1a8	UTSW	6	141,990,421 (GRCm38)	missense	probably benign
R0149:Slco1a8	UTSW	6	141,992,477 (GRCm38)	missense	probably benign	0.01
R0270:Slco1a8	UTSW	6	141,972,411 (GRCm38)	missense	possibly damaging	0.88
R0420:Slco1a8	UTSW	6	141,985,477 (GRCm38)	splice site	probably benign
R0737:Slco1a8	UTSW	6	142,003,428 (GRCm38)	missense	possibly damaging	0.79
R1344:Slco1a8	UTSW	6	141,985,618 (GRCm38)	missense	probably damaging	1.00
R1464:Slco1a8	UTSW	6	141,992,517 (GRCm38)	nonsense	probably null
R1464:Slco1a8	UTSW	6	141,992,517 (GRCm38)	nonsense	probably null
R1590:Slco1a8	UTSW	6	141,980,872 (GRCm38)	missense	probably benign	0.00
R1666:Slco1a8	UTSW	6	141,982,049 (GRCm38)	splice site	probably null
R1669:Slco1a8	UTSW	6	141,987,689 (GRCm38)	missense	probably benign	0.39
R1862:Slco1a8	UTSW	6	142,003,423 (GRCm38)	missense	possibly damaging	0.95
R1882:Slco1a8	UTSW	6	141,993,637 (GRCm38)	critical splice donor site	probably null
R2134:Slco1a8	UTSW	6	141,980,978 (GRCm38)	missense	probably damaging	1.00
R2155:Slco1a8	UTSW	6	141,980,944 (GRCm38)	missense	probably damaging	1.00
R2163:Slco1a8	UTSW	6	141,980,938 (GRCm38)	missense	possibly damaging	0.55
R2227:Slco1a8	UTSW	6	141,992,361 (GRCm38)	missense	possibly damaging	0.67
R2382:Slco1a8	UTSW	6	141,990,480 (GRCm38)	missense	probably benign	0.00
R3773:Slco1a8	UTSW	6	141,972,335 (GRCm38)	missense	probably benign	0.17
R4869:Slco1a8	UTSW	6	141,987,766 (GRCm38)	missense	probably damaging	1.00
R4975:Slco1a8	UTSW	6	141,980,873 (GRCm38)	missense	probably benign	0.30
R5061:Slco1a8	UTSW	6	142,008,688 (GRCm38)	missense	probably benign	0.03
R5079:Slco1a8	UTSW	6	141,972,347 (GRCm38)	missense	probably benign	0.00
R5312:Slco1a8	UTSW	6	141,972,332 (GRCm38)	missense	probably benign	0.00
R5691:Slco1a8	UTSW	6	141,994,855 (GRCm38)	nonsense	probably null
R5874:Slco1a8	UTSW	6	141,972,235 (GRCm38)	missense	probably benign	0.00
R5945:Slco1a8	UTSW	6	141,994,282 (GRCm38)	missense	probably damaging	1.00
R6478:Slco1a8	UTSW	6	141,993,642 (GRCm38)	missense	possibly damaging	0.93
R7305:Slco1a8	UTSW	6	141,992,494 (GRCm38)	missense	probably damaging	1.00
R7325:Slco1a8	UTSW	6	141,989,225 (GRCm38)	missense	probably damaging	0.98
R7427:Slco1a8	UTSW	6	142,003,508 (GRCm38)	critical splice acceptor site	probably null
R7728:Slco1a8	UTSW	6	141,987,710 (GRCm38)	nonsense	probably null
R7949:Slco1a8	UTSW	6	141,994,265 (GRCm38)	missense	probably damaging	1.00
R8079:Slco1a8	UTSW	6	141,987,734 (GRCm38)	missense	probably benign	0.00
R8095:Slco1a8	UTSW	6	141,987,689 (GRCm38)	missense	probably benign	0.39
R8472:Slco1a8	UTSW	6	142,003,389 (GRCm38)	missense	probably damaging	1.00
R8687:Slco1a8	UTSW	6	141,994,265 (GRCm38)	missense	probably damaging	0.98
R8788:Slco1a8	UTSW	6	141,987,844 (GRCm38)	missense	probably benign	0.00
R8869:Slco1a8	UTSW	6	141,982,084 (GRCm38)	missense	probably damaging	0.96
R9162:Slco1a8	UTSW	6	141,993,727 (GRCm38)	missense	probably damaging	1.00
R9262:Slco1a8	UTSW	6	141,980,868 (GRCm38)	missense	probably damaging	0.98
R9280:Slco1a8	UTSW	6	141,994,252 (GRCm38)	missense	possibly damaging	0.80
R9398:Slco1a8	UTSW	6	141,994,785 (GRCm38)	missense	possibly damaging	0.95
R9600:Slco1a8	UTSW	6	142,003,508 (GRCm38)	critical splice acceptor site	probably null
RF021:Slco1a8	UTSW	6	142,008,714 (GRCm38)	missense	probably damaging	0.98
Z1176:Slco1a8	UTSW	6	141,990,348 (GRCm38)	missense	probably benign	0.01
Z1177:Slco1a8	UTSW	6	141,994,202 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCCTAGTGTCCTTCCAATGACAG -3'
(R):5'- CAAGTGTCCCCAGTTGCTAATCCC -3'

Sequencing Primer
(F):5'- GTCCTTCCAATGACAGAGGTAATTC -3'
(R):5'- AGTTGCTAATCCCATCTATCACAG -3'

Posted On

2013-04-24