Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01552:Slco1a8'

90593

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 #

IGL01552

Quality Score

Status

Chromosome

Chromosomal Location

141917571-141957140 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141933432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 451 (K451R)

Ref Sequence

ENSEMBL: ENSMUSP00000137696 (fasta)

Gene Model

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

AlphaFold

M0QWR8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111832
AA Change: K451R

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107463
Gene: ENSMUSG00000079263
AA Change: K451R

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

possibly damaging
Transcript: ENSMUST00000181628
AA Change: K471R

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000137967
Gene: ENSMUSG00000079263
AA Change: K471R

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

possibly damaging
Transcript: ENSMUST00000181791
AA Change: K451R

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000137696
Gene: ENSMUSG00000079263
AA Change: K451R

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl8a	T	C	1: 135,080,606 (GRCm39)		probably null	Het
Bivm	A	G	1: 44,165,933 (GRCm39)	N128D	probably benign	Het
Cfhr4	A	G	1: 139,667,040 (GRCm39)	Y412H	probably damaging	Het
Chil3	C	A	3: 106,056,164 (GRCm39)	G330V	probably damaging	Het
Dscaml1	A	G	9: 45,359,206 (GRCm39)	H155R	probably damaging	Het
Elapor1	A	G	3: 108,388,628 (GRCm39)	W252R	possibly damaging	Het
Etl4	T	A	2: 20,783,000 (GRCm39)	V687D	probably damaging	Het
Fbxw10	A	T	11: 62,748,510 (GRCm39)		probably null	Het
Gfpt2	G	T	11: 49,695,832 (GRCm39)	E21*	probably null	Het
Gm10197	C	T	19: 53,360,122 (GRCm39)	V26I	possibly damaging	Het
Golim4	T	C	3: 75,863,502 (GRCm39)	E35G	probably damaging	Het
Igdcc4	A	G	9: 65,029,784 (GRCm39)		probably benign	Het
Ino80d	A	G	1: 63,097,136 (GRCm39)		probably benign	Het
Ipo13	A	G	4: 117,758,161 (GRCm39)	M734T	probably benign	Het
Klk1b27	C	T	7: 43,704,039 (GRCm39)	L61F	probably damaging	Het
Lamtor5	T	C	3: 107,186,324 (GRCm39)	V31A	probably benign	Het
Lrp1	A	T	10: 127,424,379 (GRCm39)	L769*	probably null	Het
Nipsnap1	A	T	11: 4,839,124 (GRCm39)	S135C	probably damaging	Het
Or4k35	C	A	2: 111,100,257 (GRCm39)	G152C	probably damaging	Het
Pparg	A	T	6: 115,467,083 (GRCm39)	H452L	probably benign	Het
Rab34	C	T	11: 78,082,264 (GRCm39)	A202V	probably damaging	Het
Ryr3	T	A	2: 112,656,228 (GRCm39)	T1923S	possibly damaging	Het
Sall4	A	G	2: 168,598,043 (GRCm39)	S266P	probably damaging	Het
Sh2d4b	T	C	14: 40,582,605 (GRCm39)	Q195R	probably benign	Het
Sik2	C	A	9: 50,828,822 (GRCm39)		probably benign	Het
Slc25a36	A	G	9: 96,961,286 (GRCm39)	V111A	probably benign	Het
Sptbn5	A	T	2: 119,884,903 (GRCm39)		probably benign	Het
Tac2	G	A	10: 127,561,970 (GRCm39)	E25K	possibly damaging	Het
Tnc	A	G	4: 63,888,645 (GRCm39)	V1807A	probably damaging	Het
Top3b	T	C	16: 16,705,687 (GRCm39)		probably benign	Het
Zfp827	A	G	8: 79,802,820 (GRCm39)	E464G	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
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

2013-12-09