Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01340:Slco1a6'

74792

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL01340

Quality Score

Status

Chromosome

Chromosomal Location

142085761-142208521 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 142109383 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 278 (N278K)

Ref Sequence

ENSEMBL: ENSMUSP00000107458 (fasta)

Gene Model

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

AlphaFold

Q99J94

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111827
AA Change: N278K

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107458
Gene: ENSMUSG00000079262
AA Change: N278K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172984

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174516

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	C	4: 42,971,984	E439A	possibly damaging	Het
Abca9	T	A	11: 110,130,627	I1086L	probably benign	Het
Adam17	A	T	12: 21,330,057	C630*	probably null	Het
Adgrg5	T	C	8: 94,937,629	L289P	probably damaging	Het
Aplp1	G	A	7: 30,444,418	T64I	probably damaging	Het
Bdh1	T	A	16: 31,456,843	W261R	probably damaging	Het
Cadm2	A	T	16: 66,784,785	I202N	possibly damaging	Het
Cd209c	C	T	8: 3,945,892	R6H	probably benign	Het
Cfap221	T	A	1: 119,953,620	I371F	possibly damaging	Het
Cfap44	A	G	16: 44,404,130	Y67C	probably damaging	Het
Cilp	T	C	9: 65,275,974	S387P	probably damaging	Het
Cnot1	T	C	8: 95,760,537	D598G	probably damaging	Het
Col5a1	T	C	2: 27,960,451	L520P	unknown	Het
Cpvl	A	T	6: 53,896,451	Y433*	probably null	Het
Cxcl1	G	T	5: 90,891,575	C59F	probably damaging	Het
Cyth3	T	A	5: 143,684,435	L33*	probably null	Het
Dnah2	T	C	11: 69,493,184	K1069E	probably damaging	Het
Drosha	T	A	15: 12,834,023		probably benign	Het
Fam83h	T	A	15: 76,004,036	D484V	probably damaging	Het
Igsf3	C	A	3: 101,439,679	Y663*	probably null	Het
Kmt5c	C	T	7: 4,742,141	R44*	probably null	Het
Kxd1	T	C	8: 70,515,443		probably null	Het
Lars	A	G	18: 42,202,577	V1158A	probably benign	Het
Lmf2	A	G	15: 89,352,872	F413S	probably damaging	Het
Mc4r	C	T	18: 66,859,158	A295T	probably benign	Het
Mrc1	T	C	2: 14,310,084		probably null	Het
Mtmr7	T	C	8: 40,597,422	Y110C	probably damaging	Het
Myd88	A	C	9: 119,337,352		probably benign	Het
Ndc1	T	C	4: 107,374,147	V95A	probably damaging	Het
Ntrk1	T	A	3: 87,788,714	E163V	possibly damaging	Het
Olfr1208	T	C	2: 88,896,977	T207A	probably damaging	Het
Pappa	A	T	4: 65,323,872	D1491V	possibly damaging	Het
Phc3	T	A	3: 30,929,884	I673F	possibly damaging	Het
Pkhd1	A	T	1: 20,522,977	N1637K	probably benign	Het
Relb	T	C	7: 19,616,373	I218V	probably benign	Het
Rgma	T	C	7: 73,417,330	F111S	probably damaging	Het
Slfn9	A	T	11: 82,981,751	F720I	probably benign	Het
Snd1	T	A	6: 28,883,369	V741E	probably benign	Het
Snx6	C	T	12: 54,754,309	R185Q	probably damaging	Het
Telo2	G	A	17: 25,100,129		probably benign	Het
Wdr91	A	G	6: 34,904,579	S278P	probably benign	Het
Xab2	A	T	8: 3,614,381	D277E	probably damaging	Het
Zbbx	T	C	3: 75,105,650	E158G	possibly damaging	Het

Other mutations in Slco1a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Slco1a6	APN	6	142161017	missense	probably benign	0.00
IGL00430:Slco1a6	APN	6	142101651	nonsense	probably null
IGL00541:Slco1a6	APN	6	142096299	missense	possibly damaging	0.67
IGL01693:Slco1a6	APN	6	142133209	nonsense	probably null
IGL01713:Slco1a6	APN	6	142086567	missense	possibly damaging	0.87
IGL01828:Slco1a6	APN	6	142096411	missense	probably damaging	1.00
IGL02049:Slco1a6	APN	6	142101583	splice site	probably benign
IGL02085:Slco1a6	APN	6	142086474	missense	probably benign	0.00
IGL02245:Slco1a6	APN	6	142109424	missense	probably damaging	1.00
IGL02549:Slco1a6	APN	6	142096415	splice site	probably benign
IGL02698:Slco1a6	APN	6	142103011	nonsense	probably null
IGL02948:Slco1a6	APN	6	142133235	splice site	probably null
IGL03075:Slco1a6	APN	6	142103149	splice site	probably benign
PIT4585001:Slco1a6	UTSW	6	142109520	missense	probably damaging	0.99
R0008:Slco1a6	UTSW	6	142157222	unclassified	probably benign
R0106:Slco1a6	UTSW	6	142157390	unclassified	probably benign
R0106:Slco1a6	UTSW	6	142157390	unclassified	probably benign
R0173:Slco1a6	UTSW	6	142103122	missense	probably benign	0.10
R1642:Slco1a6	UTSW	6	142086434	missense	probably benign	0.00
R1939:Slco1a6	UTSW	6	142133230	missense	probably damaging	1.00
R2256:Slco1a6	UTSW	6	142091016	missense	probably benign	0.04
R2257:Slco1a6	UTSW	6	142091016	missense	probably benign	0.04
R2696:Slco1a6	UTSW	6	142112936	missense	probably damaging	1.00
R2902:Slco1a6	UTSW	6	142096320	missense	probably damaging	1.00
R4602:Slco1a6	UTSW	6	142101652	missense	probably benign	0.00
R4611:Slco1a6	UTSW	6	142101652	missense	probably benign	0.00
R4958:Slco1a6	UTSW	6	142145705	missense	probably damaging	1.00
R5256:Slco1a6	UTSW	6	142132701	missense	probably benign	0.39
R5347:Slco1a6	UTSW	6	142086599	missense	probably damaging	0.98
R6130:Slco1a6	UTSW	6	142086429	missense	probably benign	0.26
R6384:Slco1a6	UTSW	6	142109379	missense	probably benign	0.01
R6543:Slco1a6	UTSW	6	142133146	missense	probably benign	0.00
R6662:Slco1a6	UTSW	6	142133215	missense	probably damaging	0.97
R6687:Slco1a6	UTSW	6	142099350	missense	possibly damaging	0.91
R6702:Slco1a6	UTSW	6	142103100	missense	probably damaging	0.99
R7012:Slco1a6	UTSW	6	142086561	missense	probably benign	0.02
R7140:Slco1a6	UTSW	6	142103019	missense	probably benign	0.00
R7392:Slco1a6	UTSW	6	142157277	missense	probably benign	0.00
R7399:Slco1a6	UTSW	6	142091068	missense	probably benign	0.01
R7476:Slco1a6	UTSW	6	142103001	missense	possibly damaging	0.71
R7621:Slco1a6	UTSW	6	142161017	missense	probably damaging	0.96
R7633:Slco1a6	UTSW	6	142145755	missense	probably damaging	1.00
R8139:Slco1a6	UTSW	6	142089900	missense	probably damaging	1.00
R8177:Slco1a6	UTSW	6	142101734	missense	probably damaging	1.00
R8768:Slco1a6	UTSW	6	142133171	missense	probably benign	0.01
R8957:Slco1a6	UTSW	6	142145767	missense	probably damaging	0.99
R9090:Slco1a6	UTSW	6	142089849	missense	probably damaging	1.00
R9271:Slco1a6	UTSW	6	142089849	missense	probably damaging	1.00

Posted On

2013-10-07