Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01354:Slco1a8'

75484

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slco1a8

Ensembl Gene

ENSMUSG00000079263

Gene Name

solute carrier organic anion transporter family, member 1a8

Synonyms

Gm6614

Accession Numbers

Essential gene?

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

Stock #

IGL01354

Quality Score

Status

Chromosome

Chromosomal Location

141917571-141957140 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141936134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 317 (N317S)

Ref Sequence

ENSEMBL: ENSMUSP00000137696 (fasta)

Gene Model

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

AlphaFold

M0QWR8

Predicted Effect

probably benign
Transcript: ENSMUST00000111832
AA Change: N317S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107463
Gene: ENSMUSG00000079263
AA Change: N317S

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 benign
Transcript: ENSMUST00000181628
AA Change: N337S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000137967
Gene: ENSMUSG00000079263
AA Change: N337S

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
AA Change: N317S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000137696
Gene: ENSMUSG00000079263
AA Change: N317S

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	A	G	10: 83,363,240 (GRCm39)	L41P	probably damaging	Het
Baz2b	T	C	2: 59,799,233 (GRCm39)	Q297R	probably benign	Het
Chl1	A	T	6: 103,642,814 (GRCm39)	Q184L	probably benign	Het
Cyp2a5	A	G	7: 26,536,528 (GRCm39)	D169G	possibly damaging	Het
Cyp2d34	G	A	15: 82,501,823 (GRCm39)	T229M	probably benign	Het
Fgd5	C	T	6: 92,038,824 (GRCm39)	R995*	probably null	Het
Gaa	T	C	11: 119,161,394 (GRCm39)	S146P	probably benign	Het
Gm11437	T	A	11: 84,058,144 (GRCm39)		probably benign	Het
Inpp5a	T	C	7: 139,118,150 (GRCm39)	F235L	probably damaging	Het
Lpp	T	A	16: 24,580,816 (GRCm39)	Y177*	probably null	Het
Malt1	A	G	18: 65,608,262 (GRCm39)	Y654C	probably damaging	Het
Or2y10	T	C	11: 49,455,024 (GRCm39)	I92T	probably damaging	Het
Or4k52	A	C	2: 111,611,246 (GRCm39)	N194H	possibly damaging	Het
Or8b4	G	A	9: 37,830,840 (GRCm39)	V301I	possibly damaging	Het
Otog	A	G	7: 45,939,150 (GRCm39)	N2060S	probably damaging	Het
Phc1	G	A	6: 122,311,042 (GRCm39)	T98I	probably damaging	Het
Pik3cb	A	G	9: 98,946,221 (GRCm39)	I535T	possibly damaging	Het
Plxna2	A	G	1: 194,444,743 (GRCm39)	I712V	probably benign	Het
Psmc2	A	G	5: 22,000,834 (GRCm39)	E103G	possibly damaging	Het
Ptprb	A	G	10: 116,179,796 (GRCm39)	I1405V	probably benign	Het
Ralgapa1	T	C	12: 55,824,101 (GRCm39)	N260D	possibly damaging	Het
Reln	G	A	5: 22,124,173 (GRCm39)	Q2778*	probably null	Het
Sptlc1	T	A	13: 53,487,987 (GRCm39)	Q452L	probably benign	Het
Traf4	C	A	11: 78,056,226 (GRCm39)	R14L	possibly damaging	Het
Ubap2	T	C	4: 41,207,005 (GRCm39)	E191G	probably damaging	Het
Vstm4	A	T	14: 32,641,202 (GRCm39)	T262S	probably benign	Het
Zrsr2-ps1	T	A	11: 22,924,190 (GRCm39)	H321Q	probably damaging	Het

Other mutations in Slco1a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-10-07