Mutagenetix > Incidental Mutations

Incidental Mutation 'R0052:Slco3a1'

15328

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

MMRRC Submission

038346-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R0052 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

74275419-74554780 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74504326 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 166 (I166N)

Ref Sequence

ENSEMBL: ENSMUSP00000103077 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026897] [ENSMUST00000098371] [ENSMUST00000107453] [ENSMUST00000138099]

Predicted Effect

probably benign
Transcript: ENSMUST00000026897
AA Change: I166N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000026897
Gene: ENSMUSG00000025790
AA Change: I166N

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 benign
Transcript: ENSMUST00000098371
AA Change: I166N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095973
Gene: ENSMUSG00000025790
AA Change: I166N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107453
AA Change: I166N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000103077
Gene: ENSMUSG00000025790
AA Change: I166N

Domain	Start	End	E-Value	Type
low complexity region	7	16	N/A	INTRINSIC
Pfam:MFS_1	45	456	2e-27	PFAM
KAZAL	474	509	2.77e-1	SMART
low complexity region	574	589	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129292

Predicted Effect

unknown
Transcript: ENSMUST00000134539
AA Change: I127N

SMART Domains

Protein: ENSMUSP00000116946
Gene: ENSMUSG00000025790
AA Change: I127N

Domain	Start	End	E-Value	Type
Pfam:OATP	3	181	1.6e-56	PFAM
Pfam:MFS_1	6	183	3.3e-10	PFAM
Pfam:OATP	179	219	2.5e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136389

Predicted Effect

probably benign
Transcript: ENSMUST00000138099
AA Change: I137N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115279
Gene: ENSMUSG00000025790
AA Change: I137N

Domain	Start	End	E-Value	Type
Pfam:OATP	26	165	2.4e-47	PFAM

Meta Mutation Damage Score

0.042

Coding Region Coverage

1x: 85.5%
3x: 78.2%
10x: 46.7%
20x: 12.5%

Validation Efficiency

90% (62/69)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apba1	T	C	19: 23,915,951	S438P	possibly damaging	Het
Atp2a1	A	G	7: 126,457,897		probably benign	Het
Bicd2	T	A	13: 49,375,314	L184Q	probably damaging	Het
Bub1	G	A	2: 127,809,039	T618I	probably benign	Het
Dsp	A	G	13: 38,197,364	D2096G	possibly damaging	Het
Eno4	A	G	19: 58,968,553	D357G	probably damaging	Het
Fam214a	A	G	9: 75,018,983		probably benign	Het
Fcrls	A	T	3: 87,256,778	I348N	possibly damaging	Het
Fgl2	A	T	5: 21,375,349	S230C	probably damaging	Het
Ginm1	T	A	10: 7,779,306	E57D	possibly damaging	Het
Itga9	T	A	9: 118,636,549	I157N	probably damaging	Het
Kif21a	T	C	15: 90,970,857	E700G	probably damaging	Het
Mmd	C	T	11: 90,259,998		probably benign	Het
Morn3	T	C	5: 123,046,663	Y38C	probably damaging	Het
Prex2	T	A	1: 11,160,156	L802Q	probably damaging	Het
Psd3	A	G	8: 67,882,979		probably null	Het
Ralgds	T	A	2: 28,544,388		probably null	Het
Rmdn2	A	G	17: 79,650,331	E16G	probably damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc4a4	A	C	5: 89,156,336	H502P	possibly damaging	Het
Snx5	A	T	2: 144,259,192		probably null	Het
Srgap1	T	C	10: 121,800,827	D741G	possibly damaging	Het
St8sia2	G	T	7: 73,943,290	Y339*	probably null	Het
Tdo2	T	A	3: 81,967,025	N210I	probably benign	Het
Thada	A	T	17: 84,455,158	N104K	probably damaging	Het
Timm8b	A	T	9: 50,605,030	D61V	possibly damaging	Het
Trbv12-1	T	C	6: 41,113,916	F74S	possibly damaging	Het
Tshz1	G	A	18: 84,014,945	T446I	possibly damaging	Het
Ubap2l	T	C	3: 90,038,928	N123S	possibly damaging	Het
Usp12	A	G	5: 146,739,104	V336A	possibly damaging	Het
Xrn2	T	A	2: 147,040,965		probably benign	Het
Zfp14	G	T	7: 30,038,328	Q411K	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
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	intron	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
R3894:Slco3a1	UTSW	7	74284613	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
X0017:Slco3a1	UTSW	7	74284360	missense	probably benign	0.03

Posted On

2012-12-17