Mutagenetix > Incidental Mutation

Incidental Mutation 'R7427:Slco1a8'

576172

Institutional Source

Beutler Lab

Gene Symbol

Slco1a8

Ensembl Gene

ENSMUSG00000079263

Gene Name

solute carrier organic anion transporter family, member 1a8

Synonyms

Gm6614

MMRRC Submission

045505-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R7427 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141917571-141957140 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to G at 141949234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137967 (fasta)

Gene Model

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

AlphaFold

M0QWR8

Predicted Effect

probably null
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

probably null
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 null
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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (78/78)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	T	A	15: 76,478,585 (GRCm39)	C318S	possibly damaging	Het
Aspm	T	A	1: 139,385,354 (GRCm39)	C333S	probably benign	Het
B3gnt4	A	G	5: 123,648,794 (GRCm39)	N53S	probably damaging	Het
Bpifb5	G	A	2: 154,067,042 (GRCm39)	M98I	probably benign	Het
Cacna2d3	A	G	14: 28,786,232 (GRCm39)	M585T	probably damaging	Het
Cbarp	T	C	10: 79,967,138 (GRCm39)	D701G	probably damaging	Het
Ccn2	T	G	10: 24,473,397 (GRCm39)	M312R	probably damaging	Het
Cntrl	T	A	2: 35,060,546 (GRCm39)	W1913R	probably benign	Het
Cry2	T	C	2: 92,243,392 (GRCm39)	D483G	possibly damaging	Het
Csmd1	A	G	8: 16,073,864 (GRCm39)	F2044L	possibly damaging	Het
Cxcl16	A	G	11: 70,349,630 (GRCm39)	V78A	possibly damaging	Het
Cxcr6	A	T	9: 123,639,305 (GRCm39)	Y109F	probably benign	Het
Cyb5b	A	G	8: 107,897,048 (GRCm39)	D106G	probably benign	Het
D630036H23Rik	T	C	12: 36,431,537 (GRCm39)	R154G	unknown	Het
Dnah9	T	C	11: 65,846,045 (GRCm39)	T2998A	probably benign	Het
Focad	T	C	4: 88,286,988 (GRCm39)	S1254P	unknown	Het
Gm21886	A	T	18: 80,132,867 (GRCm39)	L97Q	probably damaging	Het
Gpr158	A	C	2: 21,832,129 (GRCm39)	L1076F	probably benign	Het
Hivep2	T	C	10: 14,009,485 (GRCm39)	M1714T	possibly damaging	Het
Hlcs	A	G	16: 94,068,758 (GRCm39)	V154A	probably benign	Het
Hpdl	A	T	4: 116,678,062 (GRCm39)	L133Q	probably damaging	Het
Il1rn	C	A	2: 24,239,554 (GRCm39)	T150K	probably benign	Het
Il6st	A	G	13: 112,625,094 (GRCm39)	I237V	probably benign	Het
Inpp5f	A	G	7: 128,281,529 (GRCm39)	D510G	probably damaging	Het
Ism2	G	T	12: 87,333,769 (GRCm39)	T92K	possibly damaging	Het
Kif13b	T	C	14: 65,025,909 (GRCm39)	I1422T	probably benign	Het
Kit	G	A	5: 75,806,507 (GRCm39)	V671I	possibly damaging	Het
Klhdc8a	A	T	1: 132,230,705 (GRCm39)	N190I	probably damaging	Het
Lad1	C	T	1: 135,753,576 (GRCm39)	T41I	probably damaging	Het
Lrrc7	G	T	3: 157,903,778 (GRCm39)	T294K	probably benign	Het
Megf8	C	T	7: 25,037,796 (GRCm39)	R771C	probably benign	Het
Micu3	A	C	8: 40,831,955 (GRCm39)	N440T	possibly damaging	Het
Mnx1	T	C	5: 29,679,211 (GRCm39)	N291D	unknown	Het
Mthfr	A	G	4: 148,136,060 (GRCm39)	M378V	probably benign	Het
Mup2	A	T	4: 60,138,454 (GRCm39)	D79E	probably benign	Het
Myzap	T	C	9: 71,412,465 (GRCm39)	T451A	probably benign	Het
Nlrp9c	T	C	7: 26,070,860 (GRCm39)	D907G	probably benign	Het
Nr1h4	T	C	10: 89,334,267 (GRCm39)	E41G	probably benign	Het
Nup98	A	T	7: 101,784,208 (GRCm39)		probably null	Het
Nxpe5	A	C	5: 138,238,022 (GRCm39)	Y194S	probably damaging	Het
Omd	A	T	13: 49,745,745 (GRCm39)	E385V	possibly damaging	Het
Or12d15	T	C	17: 37,694,190 (GRCm39)	V244A	probably damaging	Het
Or12e9	G	T	2: 87,202,034 (GRCm39)	V53L	probably benign	Het
Or2av9	A	G	11: 58,380,606 (GRCm39)	I325T	probably benign	Het
Or52m1	A	G	7: 102,289,533 (GRCm39)	I27V	probably benign	Het
Or5m12	T	A	2: 85,734,475 (GRCm39)	R308*	probably null	Het
Or5m3	A	T	2: 85,838,563 (GRCm39)	I148L	probably benign	Het
Or9s18	A	G	13: 65,300,866 (GRCm39)	Y276C	probably damaging	Het
Pcdh9	G	T	14: 94,124,547 (GRCm39)	T541K	probably damaging	Het
Pdia6	T	C	12: 17,328,546 (GRCm39)	V167A	probably damaging	Het
Phf7	C	T	14: 30,962,370 (GRCm39)	R145Q	possibly damaging	Het
Pitx3	T	C	19: 46,125,863 (GRCm39)	D20G	possibly damaging	Het
Plxnb1	T	C	9: 108,937,236 (GRCm39)	V1139A	probably benign	Het
Pon2	A	T	6: 5,268,995 (GRCm39)	N226K	probably damaging	Het
Potegl	C	T	2: 23,147,006 (GRCm39)	R337C	probably benign	Het
Ppp1r10	T	A	17: 36,241,025 (GRCm39)	H642Q	possibly damaging	Het
Prom2	A	G	2: 127,381,731 (GRCm39)	L195P	probably damaging	Het
Psg23	C	T	7: 18,345,908 (GRCm39)		probably null	Het
Rfx4	C	A	10: 84,731,876 (GRCm39)	Q618K	probably benign	Het
Rhobtb1	T	A	10: 69,084,654 (GRCm39)	I15N	probably damaging	Het
Rhot2	A	T	17: 26,060,583 (GRCm39)	V233E	probably damaging	Het
Ripply2	T	C	9: 86,901,809 (GRCm39)	S112P	possibly damaging	Het
Slc12a1	C	A	2: 125,056,052 (GRCm39)	T861N	probably benign	Het
Slc35f1	T	A	10: 52,965,510 (GRCm39)	S308R	probably damaging	Het
Slc35f4	T	A	14: 49,536,355 (GRCm39)	I427F	probably damaging	Het
Sned1	G	A	1: 93,217,080 (GRCm39)	V1322I	probably benign	Het
Sprr2f	G	A	3: 92,273,251 (GRCm39)	V17M	unknown	Het
Srd5a3	A	G	5: 76,302,490 (GRCm39)	H285R	probably benign	Het
Stab1	T	C	14: 30,881,216 (GRCm39)	T605A	probably benign	Het
Syne1	T	C	10: 5,223,718 (GRCm39)	Q3054R	probably damaging	Het
Tas1r1	T	C	4: 152,122,765 (GRCm39)	T27A	probably benign	Het
Tmem150b	A	T	7: 4,719,209 (GRCm39)	V237E	probably benign	Het
Trpv6	C	T	6: 41,602,087 (GRCm39)	M407I	probably benign	Het
Ttn	T	G	2: 76,550,698 (GRCm39)	D31528A	probably damaging	Het
Uroc1	A	T	6: 90,323,344 (GRCm39)	D354V	possibly damaging	Het
Vmn2r69	T	C	7: 85,060,467 (GRCm39)	I372M	probably benign	Het
Vmn2r93	A	T	17: 18,546,672 (GRCm39)	H848L	probably benign	Het
Zfp971	T	A	2: 177,674,967 (GRCm39)	C189S	probably damaging	Het

Other mutations in Slco1a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01354:Slco1a8	APN	6	141,936,134 (GRCm39)	missense	probably benign	0.00
IGL01548:Slco1a8	APN	6	141,938,238 (GRCm39)	missense	possibly damaging	0.82
IGL01552:Slco1a8	APN	6	141,933,432 (GRCm39)	missense	possibly damaging	0.54
IGL02207:Slco1a8	APN	6	141,936,158 (GRCm39)	missense	possibly damaging	0.80
IGL02227:Slco1a8	APN	6	141,939,401 (GRCm39)	nonsense	probably null
IGL02547:Slco1a8	APN	6	141,936,116 (GRCm39)	missense	probably damaging	0.99
IGL02678:Slco1a8	APN	6	141,954,444 (GRCm39)	missense	probably damaging	1.00
IGL02695:Slco1a8	APN	6	141,933,486 (GRCm39)	missense	probably damaging	1.00
IGL02851:Slco1a8	APN	6	141,949,197 (GRCm39)	missense	probably damaging	1.00
IGL02881:Slco1a8	APN	6	141,917,969 (GRCm39)	missense	probably benign	0.00
IGL02898:Slco1a8	APN	6	141,940,023 (GRCm39)	missense	probably benign	0.01
IGL03036:Slco1a8	APN	6	141,954,333 (GRCm39)	missense	possibly damaging	0.69
IGL03065:Slco1a8	APN	6	141,938,228 (GRCm39)	missense	probably damaging	0.99
IGL03300:Slco1a8	APN	6	141,940,532 (GRCm39)	missense	probably damaging	0.96
R0020:Slco1a8	UTSW	6	141,918,076 (GRCm39)	missense	possibly damaging	0.93
R0020:Slco1a8	UTSW	6	141,918,076 (GRCm39)	missense	possibly damaging	0.93
R0049:Slco1a8	UTSW	6	141,936,147 (GRCm39)	missense	probably benign
R0049:Slco1a8	UTSW	6	141,936,147 (GRCm39)	missense	probably benign
R0149:Slco1a8	UTSW	6	141,938,203 (GRCm39)	missense	probably benign	0.01
R0270:Slco1a8	UTSW	6	141,918,137 (GRCm39)	missense	possibly damaging	0.88
R0360:Slco1a8	UTSW	6	141,928,053 (GRCm39)	splice site	probably benign
R0420:Slco1a8	UTSW	6	141,931,203 (GRCm39)	splice site	probably benign
R0737:Slco1a8	UTSW	6	141,949,154 (GRCm39)	missense	possibly damaging	0.79
R1344:Slco1a8	UTSW	6	141,931,344 (GRCm39)	missense	probably damaging	1.00
R1464:Slco1a8	UTSW	6	141,938,243 (GRCm39)	nonsense	probably null
R1464:Slco1a8	UTSW	6	141,938,243 (GRCm39)	nonsense	probably null
R1590:Slco1a8	UTSW	6	141,926,598 (GRCm39)	missense	probably benign	0.00
R1666:Slco1a8	UTSW	6	141,927,775 (GRCm39)	splice site	probably null
R1669:Slco1a8	UTSW	6	141,933,415 (GRCm39)	missense	probably benign	0.39
R1862:Slco1a8	UTSW	6	141,949,149 (GRCm39)	missense	possibly damaging	0.95
R1882:Slco1a8	UTSW	6	141,939,363 (GRCm39)	critical splice donor site	probably null
R2134:Slco1a8	UTSW	6	141,926,704 (GRCm39)	missense	probably damaging	1.00
R2155:Slco1a8	UTSW	6	141,926,670 (GRCm39)	missense	probably damaging	1.00
R2163:Slco1a8	UTSW	6	141,926,664 (GRCm39)	missense	possibly damaging	0.55
R2227:Slco1a8	UTSW	6	141,938,087 (GRCm39)	missense	possibly damaging	0.67
R2382:Slco1a8	UTSW	6	141,936,206 (GRCm39)	missense	probably benign	0.00
R3773:Slco1a8	UTSW	6	141,918,061 (GRCm39)	missense	probably benign	0.17
R4869:Slco1a8	UTSW	6	141,933,492 (GRCm39)	missense	probably damaging	1.00
R4975:Slco1a8	UTSW	6	141,926,599 (GRCm39)	missense	probably benign	0.30
R5061:Slco1a8	UTSW	6	141,954,414 (GRCm39)	missense	probably benign	0.03
R5079:Slco1a8	UTSW	6	141,918,073 (GRCm39)	missense	probably benign	0.00
R5312:Slco1a8	UTSW	6	141,918,058 (GRCm39)	missense	probably benign	0.00
R5691:Slco1a8	UTSW	6	141,940,581 (GRCm39)	nonsense	probably null
R5874:Slco1a8	UTSW	6	141,917,961 (GRCm39)	missense	probably benign	0.00
R5945:Slco1a8	UTSW	6	141,940,008 (GRCm39)	missense	probably damaging	1.00
R6478:Slco1a8	UTSW	6	141,939,368 (GRCm39)	missense	possibly damaging	0.93
R7305:Slco1a8	UTSW	6	141,938,220 (GRCm39)	missense	probably damaging	1.00
R7325:Slco1a8	UTSW	6	141,934,951 (GRCm39)	missense	probably damaging	0.98
R7728:Slco1a8	UTSW	6	141,933,436 (GRCm39)	nonsense	probably null
R7949:Slco1a8	UTSW	6	141,939,991 (GRCm39)	missense	probably damaging	1.00
R8079:Slco1a8	UTSW	6	141,933,460 (GRCm39)	missense	probably benign	0.00
R8095:Slco1a8	UTSW	6	141,933,415 (GRCm39)	missense	probably benign	0.39
R8472:Slco1a8	UTSW	6	141,949,115 (GRCm39)	missense	probably damaging	1.00
R8687:Slco1a8	UTSW	6	141,939,991 (GRCm39)	missense	probably damaging	0.98
R8788:Slco1a8	UTSW	6	141,933,570 (GRCm39)	missense	probably benign	0.00
R8869:Slco1a8	UTSW	6	141,927,810 (GRCm39)	missense	probably damaging	0.96
R9162:Slco1a8	UTSW	6	141,939,453 (GRCm39)	missense	probably damaging	1.00
R9262:Slco1a8	UTSW	6	141,926,594 (GRCm39)	missense	probably damaging	0.98
R9280:Slco1a8	UTSW	6	141,939,978 (GRCm39)	missense	possibly damaging	0.80
R9398:Slco1a8	UTSW	6	141,940,511 (GRCm39)	missense	possibly damaging	0.95
R9600:Slco1a8	UTSW	6	141,949,234 (GRCm39)	critical splice acceptor site	probably null
RF021:Slco1a8	UTSW	6	141,954,440 (GRCm39)	missense	probably damaging	0.98
Z1176:Slco1a8	UTSW	6	141,936,074 (GRCm39)	missense	probably benign	0.01
Z1177:Slco1a8	UTSW	6	141,939,928 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTTCCTCCTCCCAGAAAG -3'
(R):5'- AGAGCTTTAGTATTCTCCAGAGAG -3'

Sequencing Primer
(F):5'- TTTCCTCCTCCCAGAAAGGAAATTC -3'
(R):5'- GATCCTTCCCTCAGAATCACAATTG -3'

Posted On

2019-10-07