Mutagenetix > Incidental Mutation

Incidental Mutation 'R7633:Slco1a6'

589752

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R7633 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142085761-142208521 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 142145755 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 73 (I73N)

Ref Sequence

ENSEMBL: ENSMUSP00000107458 (fasta)

Gene Model

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

AlphaFold

Q99J94

Predicted Effect

probably damaging
Transcript: ENSMUST00000111827
AA Change: I73N

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

SMART Domains

Protein: ENSMUSP00000107458
Gene: ENSMUSG00000079262
AA Change: I73N

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930504O13Rik	C	A	11: 58,447,478	M29I	probably benign	Het
A530084C06Rik	G	T	13: 31,558,995	R92S	unknown	Het
Acaca	A	G	11: 84,372,639	I2029V	probably benign	Het
Anks1b	A	C	10: 90,948,584	D1138A	probably damaging	Het
Atr	T	A	9: 95,947,118	V2508E	probably damaging	Het
C4b	C	T	17: 34,729,399		probably null	Het
C530008M17Rik	A	G	5: 76,857,520	E576G	unknown	Het
Cd46	A	T	1: 195,083,619	M146K	probably null	Het
Chp1	A	G	2: 119,560,745	I28V	probably benign	Het
Chrnb1	T	A	11: 69,792,873	R216W	probably damaging	Het
Clmn	G	A	12: 104,782,112	T392M	probably benign	Het
Dcxr	A	C	11: 120,726,453	L88R	probably benign	Het
Dedd	C	T	1: 171,338,910	P138L	probably benign	Het
Degs1	A	G	1: 182,279,698	S35P	probably damaging	Het
Ehmt1	T	C	2: 24,815,780	D851G	possibly damaging	Het
Fam117b	A	G	1: 59,981,534	D521G	probably damaging	Het
Fam26d	G	A	10: 34,043,908	T121M	possibly damaging	Het
Gm14085	A	T	2: 122,486,680	R7S	probably null	Het
Gm21731	G	A	13: 120,240,840	W57*	probably null	Het
Gm6882	A	G	7: 21,427,652	V97A	probably damaging	Het
Hgs	A	T	11: 120,474,302	Q172L	probably damaging	Het
Hormad2	T	C	11: 4,346,662	Q274R	probably benign	Het
Igkv8-19	C	T	6: 70,341,399		probably benign	Het
Ikbkb	T	C	8: 22,671,741	N377S	probably benign	Het
Intu	G	A	3: 40,654,253	G232S	probably damaging	Het
Mov10	A	G	3: 104,797,065	S806P	possibly damaging	Het
Mrgprb1	A	G	7: 48,447,583	F194L	probably benign	Het
Notch3	A	T	17: 32,158,622	I160K	probably benign	Het
Nup155	C	G	15: 8,109,453	S3W	probably damaging	Het
Olfr1287	A	G	2: 111,449,622	I161V	probably benign	Het
Olfr284	A	G	15: 98,340,086	I301T	probably damaging	Het
Plxdc1	A	T	11: 97,956,151	F147L	possibly damaging	Het
Ppfia1	T	C	7: 144,552,436	D33G	possibly damaging	Het
Prdm11	G	A	2: 92,980,654	A200V	probably damaging	Het
Qrich2	A	T	11: 116,456,629	I1123K	unknown	Het
Rgs1	A	G	1: 144,248,477		probably null	Het
Skint7	T	A	4: 111,984,140	V259E	probably benign	Het
Slc25a3	A	T	10: 91,118,042		probably null	Het
Sltm	C	G	9: 70,586,673	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 69,018,067		probably benign	Het
Spock2	G	A	10: 60,126,180	D206N	probably damaging	Het
Stard3nl	T	G	13: 19,367,838	R185S	probably damaging	Het
Supt16	A	G	14: 52,197,099	Y18H	probably benign	Het
Synpo	G	A	18: 60,603,428	T482I	probably damaging	Het
Tmc6	G	T	11: 117,769,220	T694K	probably benign	Het
Trim59	T	A	3: 69,037,926	H27L	probably damaging	Het
Trpv2	G	A	11: 62,591,006		probably null	Het
Tyw5	A	T	1: 57,393,485	D117E	probably benign	Het
Usp17la	T	C	7: 104,861,147	Y320H	probably damaging	Het
Usp31	T	C	7: 121,658,962	D694G	probably damaging	Het
Vmn1r159	T	A	7: 22,843,023	T195S	probably damaging	Het
Vmn2r57	C	T	7: 41,425,089	V517M	possibly damaging	Het
Yipf1	A	G	4: 107,318,996	N29S	probably benign	Het
Zfp954	A	T	7: 7,115,824	F240L	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
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
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
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'- CCCAGAGAGGAAATTCAGAGCTTC -3'
(R):5'- AGCAGTCCAGGAGGGTTATAATGTC -3'

Sequencing Primer
(F):5'- GAGAGGAAATTCAGAGCTTCATTTCC -3'
(R):5'- CCAGGAGGGTTATAATGTCTGGAC -3'

Posted On

2019-10-24