Mutagenetix > Incidental Mutations

Incidental Mutation 'R3894:Slco3a1'

310447

Institutional Source

Beutler Lab

Gene Symbol

Slco3a1

Ensembl Gene

ENSMUSG00000025790

Gene Name

solute carrier organic anion transporter family, member 3a1

Synonyms

OATP-D, Slc21a11, 5830414C08Rik, MJAM, Anr1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

R3894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74275419-74554780 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74284613 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 604 (W604R)

Ref Sequence

ENSEMBL: ENSMUSP00000095973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026897] [ENSMUST00000098371]

Predicted Effect

probably damaging
Transcript: ENSMUST00000026897
AA Change: W604R

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

SMART Domains

Protein: ENSMUSP00000026897
Gene: ENSMUSG00000025790
AA Change: W604R

Domain	Start	End	E-Value	Type
low complexity region	7	16	N/A	INTRINSIC
Pfam:MFS_1	44	455	1.2e-27	PFAM
KAZAL	474	509	2.77e-1	SMART
low complexity region	574	594	N/A	INTRINSIC
transmembrane domain	626	648	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000098371
AA Change: W604R

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

SMART Domains

Protein: ENSMUSP00000095973
Gene: ENSMUSG00000025790
AA Change: W604R

Domain	Start	End	E-Value	Type
low complexity region	7	16	N/A	INTRINSIC
Pfam:MFS_1	44	456	1.2e-27	PFAM
KAZAL	474	509	2.77e-1	SMART
low complexity region	574	594	N/A	INTRINSIC
transmembrane domain	626	648	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1s1	A	G	7: 44,853,939	D180G	probably damaging	Het
Aldh1a7	A	T	19: 20,696,398	Y457*	probably null	Het
Alpk3	C	T	7: 81,078,390	P423S	possibly damaging	Het
Aox2	A	T	1: 58,334,678		probably null	Het
Crebbp	T	C	16: 4,096,102	T1316A	probably benign	Het
Cul3	C	A	1: 80,283,690	V273F	probably damaging	Het
Dnah1	G	T	14: 31,307,028	R582S	probably benign	Het
Fbxl2	T	C	9: 114,003,193	N51S	probably damaging	Het
Gapvd1	T	C	2: 34,728,476	D295G	probably benign	Het
Gdf7	A	G	12: 8,298,845	S151P	unknown	Het
Gm10277	T	C	11: 77,786,001		probably benign	Het
Hdac4	T	C	1: 91,970,968	E688G	possibly damaging	Het
Htr1d	A	G	4: 136,443,237	E259G	probably benign	Het
Ifi204	T	C	1: 173,749,208	H609R	possibly damaging	Het
Ift80	T	C	3: 68,917,999	D541G	probably damaging	Het
Il18r1	A	T	1: 40,474,874	H80L	possibly damaging	Het
Lrp4	G	A	2: 91,473,949	G158S	probably damaging	Het
Mesd	T	A	7: 83,897,785	L152H	probably damaging	Het
Morf4l1	A	T	9: 90,094,448	F276I	possibly damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Mut	G	A	17: 40,955,139	C531Y	probably damaging	Het
Myo15	A	G	11: 60,504,319	T2480A	probably benign	Het
Olfr1284	C	A	2: 111,379,637	F212L	probably benign	Het
Olfr1317	T	C	2: 112,142,014	I23T	probably benign	Het
Olfr1387	G	A	11: 49,459,939	G87R	possibly damaging	Het
Olfr180	A	G	16: 58,916,339	F101L	probably benign	Het
Olfr437	A	T	6: 43,167,258	I67F	probably benign	Het
Ovgp1	T	C	3: 105,986,567		probably benign	Het
Ovgp1	A	G	3: 105,986,596		probably benign	Het
Pcbp4	A	T	9: 106,461,371	Q59L	possibly damaging	Het
Prg4	G	C	1: 150,454,759		probably benign	Het
Rad50	T	A	11: 53,678,870	I905L	probably benign	Het
Rp1l1	T	C	14: 64,029,307	S781P	probably benign	Het
Rps3	C	T	7: 99,479,896	R173H	probably benign	Het
Rtn3	T	A	19: 7,435,085	T86S	probably damaging	Het
Sdha	A	T	13: 74,334,391	S268T	probably benign	Het
Sgo2b	A	T	8: 63,928,733	V355E	possibly damaging	Het
Sh3glb2	T	C	2: 30,355,288	T60A	probably damaging	Het
Slc26a3	A	C	12: 31,464,720	Y513S	probably damaging	Het
Slc35b2	T	C	17: 45,566,442	V165A	probably benign	Het
Tet2	A	G	3: 133,469,477	S1370P	possibly damaging	Het
Tmtc4	A	T	14: 122,921,319		probably null	Het
Tsga13	A	G	6: 30,912,263	V18A	probably benign	Het
Ugt2a3	T	C	5: 87,329,590	T317A	probably benign	Het
Zcchc4	A	T	5: 52,784,100	D79V	probably damaging	Het

Other mutations in Slco3a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Slco3a1	APN	7	74504183	missense	probably damaging	1.00
IGL01124:Slco3a1	APN	7	74284547	missense	probably damaging	1.00
IGL01583:Slco3a1	APN	7	74284450	missense	probably benign	0.01
IGL01929:Slco3a1	APN	7	74318605	splice site	probably benign
IGL01991:Slco3a1	APN	7	74284396	missense	possibly damaging	0.84
IGL02380:Slco3a1	APN	7	74554490	missense	probably damaging	1.00
IGL03269:Slco3a1	APN	7	74318532	missense	possibly damaging	0.58
R0052:Slco3a1	UTSW	7	74504326	missense	probably benign	0.00
R0052:Slco3a1	UTSW	7	74504326	missense	probably benign	0.00
R0317:Slco3a1	UTSW	7	74504426	missense	probably damaging	1.00
R0545:Slco3a1	UTSW	7	74320553	nonsense	probably null
R0613:Slco3a1	UTSW	7	74346634	unclassified	probably benign
R1488:Slco3a1	UTSW	7	74346701	missense	possibly damaging	0.94
R1506:Slco3a1	UTSW	7	74359935	splice site	probably null
R1571:Slco3a1	UTSW	7	74504380	missense	possibly damaging	0.92
R1912:Slco3a1	UTSW	7	74504611	missense	probably damaging	1.00
R2011:Slco3a1	UTSW	7	74346671	missense	probably benign	0.08
R2382:Slco3a1	UTSW	7	74346776	missense	probably benign	0.00
R3735:Slco3a1	UTSW	7	74504497	missense	probably damaging	1.00
R4151:Slco3a1	UTSW	7	74359838	missense	probably damaging	1.00
R4175:Slco3a1	UTSW	7	74318554	missense	probably damaging	0.97
R4303:Slco3a1	UTSW	7	74554528	missense	probably benign	0.03
R4462:Slco3a1	UTSW	7	74554563	missense	probably benign	0.18
R4702:Slco3a1	UTSW	7	74320567	missense	probably damaging	0.98
R4896:Slco3a1	UTSW	7	74320556	missense	probably null	1.00
R5419:Slco3a1	UTSW	7	74284615	missense	possibly damaging	0.77
R5561:Slco3a1	UTSW	7	74318499	missense	possibly damaging	0.67
R5597:Slco3a1	UTSW	7	74284462	missense	probably benign	0.31
R5698:Slco3a1	UTSW	7	74346818	missense	probably damaging	1.00
R6086:Slco3a1	UTSW	7	74318590	missense	possibly damaging	0.64
R6117:Slco3a1	UTSW	7	74318506	missense	probably benign	0.02
R6118:Slco3a1	UTSW	7	74318506	missense	probably benign	0.02
R6123:Slco3a1	UTSW	7	74318506	missense	probably benign	0.02
R6124:Slco3a1	UTSW	7	74318506	missense	probably benign	0.02
R6125:Slco3a1	UTSW	7	74318506	missense	probably benign	0.02
R7147:Slco3a1	UTSW	7	74504294	missense	probably damaging	1.00
R7332:Slco3a1	UTSW	7	74318484	missense	possibly damaging	0.95
R7335:Slco3a1	UTSW	7	74284342	missense	probably damaging	0.99
R7646:Slco3a1	UTSW	7	74504596	missense	probably damaging	1.00
R7798:Slco3a1	UTSW	7	74318596	missense	probably benign	0.00
R8024:Slco3a1	UTSW	7	74554470	missense	probably benign	0.24
R8128:Slco3a1	UTSW	7	74284301	missense	probably damaging	1.00
R8184:Slco3a1	UTSW	7	74359829	missense	probably benign	0.01
R8192:Slco3a1	UTSW	7	74320590	missense	probably benign	0.13
R8279:Slco3a1	UTSW	7	74284396	missense	possibly damaging	0.84
R8511:Slco3a1	UTSW	7	74303242	missense	probably benign	0.33
X0017:Slco3a1	UTSW	7	74284360	missense	probably benign	0.03
Z1176:Slco3a1	UTSW	7	74276014	nonsense	probably null

Predicted Primers

Posted On

2015-04-17