Mutagenetix > Incidental Mutation

Incidental Mutation 'R4958:Slco1a6'

381703

Institutional Source

Beutler Lab

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

MMRRC Submission

042555-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R4958 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

142085761-142208521 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 142145705 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 90 (G90C)

Ref Sequence

ENSEMBL: ENSMUSP00000107458 (fasta)

Gene Model

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

AlphaFold

Q99J94

Predicted Effect

probably damaging
Transcript: ENSMUST00000111827
AA Change: G90C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107458
Gene: ENSMUSG00000079262
AA Change: G90C

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: ENSMUST00000173877

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd7	A	G	6: 18,866,723	S81G	probably benign	Het
Arel1	T	C	12: 84,926,304	K573R	possibly damaging	Het
Atf7ip	C	T	6: 136,606,810	R1280C	probably damaging	Het
Atp1a4	T	A	1: 172,231,151	D909V	probably damaging	Het
Cdh2	T	G	18: 16,627,565		probably null	Het
Col6a1	A	T	10: 76,723,505	I99N	probably damaging	Het
Dennd4c	A	G	4: 86,781,679	T256A	probably damaging	Het
Dync1h1	C	A	12: 110,658,126	T3700N	probably damaging	Het
Ereg	T	C	5: 91,090,111	V152A	probably damaging	Het
Gm4950	T	C	18: 51,865,569	T105A	probably benign	Het
Hsf2	T	C	10: 57,501,371	I121T	probably damaging	Het
Kmt2a	A	T	9: 44,848,467	L728Q	probably damaging	Het
Llgl1	G	T	11: 60,711,435	R768L	probably benign	Het
Lyst	A	G	13: 13,635,463	I573V	probably benign	Het
Macf1	G	T	4: 123,475,364	T303K	probably damaging	Het
Map3k5	A	T	10: 20,023,789	Q264L	possibly damaging	Het
Mboat1	T	C	13: 30,224,393	S180P	probably damaging	Het
Mfsd6	T	C	1: 52,661,024	D655G	probably damaging	Het
Myh2	A	G	11: 67,192,959	E1521G	possibly damaging	Het
Nsd2	T	A	5: 33,892,022	S1200R	probably damaging	Het
Olfr1099	T	C	2: 86,959,105	M118V	possibly damaging	Het
Olfr1336	G	A	7: 6,461,058	C183Y	probably damaging	Het
Olfr633	T	C	7: 103,946,601	F12L	probably damaging	Het
Olfr667	T	C	7: 104,916,461	I278M	probably damaging	Het
Pbrm1	T	C	14: 31,074,827	I875T	probably damaging	Het
Pla2g1b	T	A	5: 115,470,826	F26I	probably damaging	Het
Plscr4	A	G	9: 92,484,761	N143D	possibly damaging	Het
Rab11fip1	G	T	8: 27,154,813	R315S	probably damaging	Het
Rptor	G	A	11: 119,857,391	R727Q	probably benign	Het
Serac1	A	T	17: 6,069,382	V91D	probably benign	Het
Sulf1	A	G	1: 12,796,910	Y106C	probably benign	Het
Syt13	G	A	2: 92,953,449	V355M	probably damaging	Het
Tjp1	G	A	7: 65,336,102	R314*	probably null	Het
Tshr	A	G	12: 91,538,187	D633G	probably damaging	Het
Usp5	C	G	6: 124,822,630	K318N	possibly damaging	Het
Znrf4	A	G	17: 56,511,701	F202S	probably damaging	Het
Zswim8	T	A	14: 20,713,465	W427R	probably 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
IGL01340:Slco1a6	APN	6	142109383	missense	possibly damaging	0.71
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
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

Predicted Primers

PCR Primer
(F):5'- TTAACTCAGGGGAAAGTAATCCAG -3'
(R):5'- CAGGAGGGTTATAATGTCTGGAC -3'

Sequencing Primer
(F):5'- GCAGAACTTGACAGTTTCTGCCATG -3'
(R):5'- ACAAAACAAAACAACAACAAACCTC -3'

Posted On

2016-04-27