Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01828:Slco1a6'

154704

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slco1a6

Ensembl Gene

ENSMUSG00000079262

Gene Name

solute carrier organic anion transporter family, member 1a6

Synonyms

Slc21a13, Oatp-5, organic anion-transporting polypeptide, 4930422F19Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

IGL01828

Quality Score

Status

Chromosome

Chromosomal Location

142031487-142131903 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 142042137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 480 (V480M)

Ref Sequence

ENSEMBL: ENSMUSP00000107458 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111827]

AlphaFold

Q99J94

Predicted Effect

probably damaging
Transcript: ENSMUST00000111827
AA Change: V480M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107458
Gene: ENSMUSG00000079262
AA Change: V480M

Domain	Start	End	E-Value	Type
Pfam:MFS_1	21	421	7.8e-26	PFAM
Pfam:OATP	21	597	1.3e-163	PFAM
Pfam:Kazal_2	445	486	2.7e-11	PFAM
transmembrane domain	600	619	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,178,521 (GRCm39)	I1151V	probably benign	Het
Abcc4	C	T	14: 118,790,691 (GRCm39)		probably benign	Het
Asxl3	T	A	18: 22,658,615 (GRCm39)		probably benign	Het
Car4	C	A	11: 84,855,571 (GRCm39)	Q198K	probably benign	Het
Ces1a	T	C	8: 93,751,829 (GRCm39)	H435R	probably damaging	Het
Chdh	T	A	14: 29,758,565 (GRCm39)	F503L	probably damaging	Het
Dennd4a	C	T	9: 64,749,843 (GRCm39)	R145*	probably null	Het
Dse	T	A	10: 34,028,772 (GRCm39)	T773S	probably damaging	Het
Fbxw11	T	A	11: 32,670,505 (GRCm39)	L123H	probably damaging	Het
Gigyf2	A	G	1: 87,346,820 (GRCm39)	D550G	probably damaging	Het
Gm45844	T	C	7: 7,234,322 (GRCm39)		probably null	Het
Krcc1	T	A	6: 71,261,351 (GRCm39)	Y128N	probably damaging	Het
Myh8	T	C	11: 67,194,652 (GRCm39)	M1621T	possibly damaging	Het
Notch2	T	A	3: 97,979,929 (GRCm39)	C148S	probably damaging	Het
Plcg2	C	A	8: 118,316,972 (GRCm39)	H616Q	probably damaging	Het
Plec	T	C	15: 76,067,955 (GRCm39)	E1218G	probably damaging	Het
Plekhm2	T	C	4: 141,356,896 (GRCm39)	E749G	probably benign	Het
Vmn1r88	C	T	7: 12,911,662 (GRCm39)	T6I	probably damaging	Het
Vmn2r14	A	G	5: 109,372,443 (GRCm39)	F16L	possibly damaging	Het
Ywhab	G	A	2: 163,853,694 (GRCm39)	R57H	possibly damaging	Het

Other mutations in Slco1a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Slco1a6	APN	6	142,106,743 (GRCm39)	missense	probably benign	0.00
IGL00430:Slco1a6	APN	6	142,047,377 (GRCm39)	nonsense	probably null
IGL00541:Slco1a6	APN	6	142,042,025 (GRCm39)	missense	possibly damaging	0.67
IGL01340:Slco1a6	APN	6	142,055,109 (GRCm39)	missense	possibly damaging	0.71
IGL01693:Slco1a6	APN	6	142,078,935 (GRCm39)	nonsense	probably null
IGL01713:Slco1a6	APN	6	142,032,293 (GRCm39)	missense	possibly damaging	0.87
IGL02049:Slco1a6	APN	6	142,047,309 (GRCm39)	splice site	probably benign
IGL02085:Slco1a6	APN	6	142,032,200 (GRCm39)	missense	probably benign	0.00
IGL02245:Slco1a6	APN	6	142,055,150 (GRCm39)	missense	probably damaging	1.00
IGL02549:Slco1a6	APN	6	142,042,141 (GRCm39)	splice site	probably benign
IGL02698:Slco1a6	APN	6	142,048,737 (GRCm39)	nonsense	probably null
IGL02948:Slco1a6	APN	6	142,078,961 (GRCm39)	splice site	probably null
IGL03075:Slco1a6	APN	6	142,048,875 (GRCm39)	splice site	probably benign
PIT4585001:Slco1a6	UTSW	6	142,055,246 (GRCm39)	missense	probably damaging	0.99
R0008:Slco1a6	UTSW	6	142,102,948 (GRCm39)	unclassified	probably benign
R0106:Slco1a6	UTSW	6	142,103,116 (GRCm39)	unclassified	probably benign
R0106:Slco1a6	UTSW	6	142,103,116 (GRCm39)	unclassified	probably benign
R0173:Slco1a6	UTSW	6	142,048,848 (GRCm39)	missense	probably benign	0.10
R1642:Slco1a6	UTSW	6	142,032,160 (GRCm39)	missense	probably benign	0.00
R1939:Slco1a6	UTSW	6	142,078,956 (GRCm39)	missense	probably damaging	1.00
R2256:Slco1a6	UTSW	6	142,036,742 (GRCm39)	missense	probably benign	0.04
R2257:Slco1a6	UTSW	6	142,036,742 (GRCm39)	missense	probably benign	0.04
R2696:Slco1a6	UTSW	6	142,058,662 (GRCm39)	missense	probably damaging	1.00
R2902:Slco1a6	UTSW	6	142,042,046 (GRCm39)	missense	probably damaging	1.00
R4602:Slco1a6	UTSW	6	142,047,378 (GRCm39)	missense	probably benign	0.00
R4611:Slco1a6	UTSW	6	142,047,378 (GRCm39)	missense	probably benign	0.00
R4958:Slco1a6	UTSW	6	142,091,431 (GRCm39)	missense	probably damaging	1.00
R5256:Slco1a6	UTSW	6	142,078,427 (GRCm39)	missense	probably benign	0.39
R5347:Slco1a6	UTSW	6	142,032,325 (GRCm39)	missense	probably damaging	0.98
R6130:Slco1a6	UTSW	6	142,032,155 (GRCm39)	missense	probably benign	0.26
R6384:Slco1a6	UTSW	6	142,055,105 (GRCm39)	missense	probably benign	0.01
R6543:Slco1a6	UTSW	6	142,078,872 (GRCm39)	missense	probably benign	0.00
R6662:Slco1a6	UTSW	6	142,078,941 (GRCm39)	missense	probably damaging	0.97
R6687:Slco1a6	UTSW	6	142,045,076 (GRCm39)	missense	possibly damaging	0.91
R6702:Slco1a6	UTSW	6	142,048,826 (GRCm39)	missense	probably damaging	0.99
R7012:Slco1a6	UTSW	6	142,032,287 (GRCm39)	missense	probably benign	0.02
R7140:Slco1a6	UTSW	6	142,048,745 (GRCm39)	missense	probably benign	0.00
R7392:Slco1a6	UTSW	6	142,103,003 (GRCm39)	missense	probably benign	0.00
R7399:Slco1a6	UTSW	6	142,036,794 (GRCm39)	missense	probably benign	0.01
R7476:Slco1a6	UTSW	6	142,048,727 (GRCm39)	missense	possibly damaging	0.71
R7621:Slco1a6	UTSW	6	142,106,743 (GRCm39)	missense	probably damaging	0.96
R7633:Slco1a6	UTSW	6	142,091,481 (GRCm39)	missense	probably damaging	1.00
R8139:Slco1a6	UTSW	6	142,035,626 (GRCm39)	missense	probably damaging	1.00
R8177:Slco1a6	UTSW	6	142,047,460 (GRCm39)	missense	probably damaging	1.00
R8768:Slco1a6	UTSW	6	142,078,897 (GRCm39)	missense	probably benign	0.01
R8957:Slco1a6	UTSW	6	142,091,493 (GRCm39)	missense	probably damaging	0.99
R9090:Slco1a6	UTSW	6	142,035,575 (GRCm39)	missense	probably damaging	1.00
R9271:Slco1a6	UTSW	6	142,035,575 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04