Mutagenetix > Incidental Mutation

Incidental Mutation 'R8687:Slco1a8'

662086

Institutional Source

Beutler Lab

Gene Symbol

Slco1a8

Ensembl Gene

ENSMUSG00000079263

Gene Name

solute carrier organic anion transporter family, member 1a8

Synonyms

Gm6614

MMRRC Submission

068542-MU

Accession Numbers

Essential gene?

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

Stock #

R8687 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141917571-141957140 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 141939991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 171 (G171S)

Ref Sequence

ENSEMBL: ENSMUSP00000137967 (fasta)

Gene Model

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

AlphaFold

M0QWR8

Predicted Effect

probably damaging
Transcript: ENSMUST00000111832
AA Change: G151S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107463
Gene: ENSMUSG00000079263
AA Change: G151S

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 damaging
Transcript: ENSMUST00000181628
AA Change: G171S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137967
Gene: ENSMUSG00000079263
AA Change: G171S

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 damaging
Transcript: ENSMUST00000181791
AA Change: G151S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137696
Gene: ENSMUSG00000079263
AA Change: G151S

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

Meta Mutation Damage Score

0.7638

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

92% (22/24)

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap45	C	T	10: 79,852,621 (GRCm39)		probably benign	Het
B3galt4	A	G	17: 34,169,819 (GRCm39)	S140P	probably damaging	Het
Cog6	C	T	3: 52,892,338 (GRCm39)	V624I	probably benign	Het
Cysrt1	A	G	2: 25,129,399 (GRCm39)	S38P	possibly damaging	Het
Eme2	C	T	17: 25,113,813 (GRCm39)	V71M	possibly damaging	Het
Eva1c	C	A	16: 90,687,433 (GRCm39)	T223K	probably benign	Het
Gm3633	A	T	14: 42,462,648 (GRCm39)	L81H		Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Iqch	A	T	9: 63,432,067 (GRCm39)	W443R	probably damaging	Het
Itgb1	T	C	8: 129,442,697 (GRCm39)	V294A	probably damaging	Het
Kif1b	T	A	4: 149,345,620 (GRCm39)	K407*	probably null	Het
Kyat1	A	G	2: 30,075,759 (GRCm39)	S377P	probably benign	Het
Mical3	A	G	6: 120,936,438 (GRCm39)	S1363P	probably benign	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Naip6	T	A	13: 100,435,636 (GRCm39)	R962S	probably benign	Het
Pnma8a	T	G	7: 16,694,520 (GRCm39)	V125G	probably damaging	Het
Ptpdc1	G	A	13: 48,740,136 (GRCm39)	P432S	possibly damaging	Het
Rhobtb2	G	A	14: 70,038,104 (GRCm39)	T52I	probably damaging	Het
Spop	G	A	11: 95,361,337 (GRCm39)		probably benign	Het
Stam	TGCTGCTGCTGCTGCCGCTGCTGCTGCTG	TGCTGCTGCTGCTG	2: 14,151,096 (GRCm39)		probably benign	Het
Stam	CCTGCTGCTGCTGCTGCTGCCGCTGCTGCTGCTG	CCTGCCGCTGCTGCTGCTG	2: 14,151,091 (GRCm39)		probably benign	Het
Tmem102	T	C	11: 69,695,441 (GRCm39)	H177R	probably benign	Het
Trpc4ap	T	C	2: 155,477,170 (GRCm39)	T748A	possibly damaging	Het
Ttc27	T	A	17: 75,046,679 (GRCm39)	Y247N	probably benign	Het
Ttc39a	T	C	4: 109,288,776 (GRCm39)	I292T	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
R7427:Slco1a8	UTSW	6	141,949,234 (GRCm39)	critical splice acceptor site	probably null
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
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'- GGCCTTGACATTGAACTGTTTTAAG -3'
(R):5'- TAGATCCAGGCTGTGATCTATGTG -3'

Sequencing Primer
(F):5'- GCAGAGCTGTGTATCAAATCC -3'
(R):5'- GGTTTTCTGTTGCTGTAATGAAAC -3'

Posted On

2021-03-08