Mutagenetix > Incidental Mutations

Incidental Mutation 'R0317:Slco3a1'

25453

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

038527-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R0317 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74275419-74554780 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 74504426 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 104 (Y104D)

Ref Sequence

ENSEMBL: ENSMUSP00000115279 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000026897
AA Change: Y133D

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

SMART Domains

Protein: ENSMUSP00000026897
Gene: ENSMUSG00000025790
AA Change: Y133D

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: Y133D

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

SMART Domains

Protein: ENSMUSP00000095973
Gene: ENSMUSG00000025790
AA Change: Y133D

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 damaging
Transcript: ENSMUST00000107453
AA Change: Y133D

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

SMART Domains

Protein: ENSMUSP00000103077
Gene: ENSMUSG00000025790
AA Change: Y133D

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: Y94D

SMART Domains

Protein: ENSMUSP00000116946
Gene: ENSMUSG00000025790
AA Change: Y94D

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 damaging
Transcript: ENSMUST00000138099
AA Change: Y104D

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

SMART Domains

Protein: ENSMUSP00000115279
Gene: ENSMUSG00000025790
AA Change: Y104D

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,293,459	V1774A	probably damaging	Het
Adam34	G	A	8: 43,652,251	P119L	probably benign	Het
Ap3b2	T	C	7: 81,463,681		probably null	Het
Arfip2	G	A	7: 105,637,223	T124M	probably damaging	Het
Arhgef26	T	C	3: 62,423,544	S560P	probably damaging	Het
Bcl11a	A	T	11: 24,172,697		probably null	Het
Cab39	A	G	1: 85,849,160	E322G	probably damaging	Het
Cad	C	A	5: 31,072,321	P1382Q	probably benign	Het
Cc2d2a	T	C	5: 43,706,901		probably null	Het
Cela2a	A	T	4: 141,821,700		probably null	Het
Ces1e	A	C	8: 93,224,039	I38S	probably benign	Het
Ces1f	A	T	8: 93,263,391	F364I	probably benign	Het
Chgb	A	G	2: 132,793,811	T558A	probably benign	Het
Cnpy4	C	T	5: 138,192,812	Q217*	probably null	Het
Col4a3bp	C	T	13: 96,634,121	R487*	probably null	Het
Crlf1	A	G	8: 70,498,599	T43A	probably benign	Het
Dnah7b	T	A	1: 46,134,656	M707K	probably damaging	Het
Ets2	G	A	16: 95,712,149	S123N	probably damaging	Het
Fam196b	C	A	11: 34,402,826	D289E	possibly damaging	Het
Fry	T	C	5: 150,471,468	F304S	probably damaging	Het
Gadd45gip1	G	A	8: 84,834,116	R120H	probably benign	Het
Gbf1	A	G	19: 46,254,020	T96A	probably benign	Het
Ggn	T	A	7: 29,171,090	M1K	probably null	Het
Gm5239	A	G	18: 35,536,916	T112A	probably benign	Het
Kif1bp	A	T	10: 62,578,082		probably null	Het
Lrrc15	A	T	16: 30,273,743	H259Q	probably benign	Het
Lysmd4	A	G	7: 67,226,297	Y236C	probably damaging	Het
Med29	T	C	7: 28,386,859	T175A	possibly damaging	Het
Mfsd12	G	T	10: 81,357,799	D68Y	probably damaging	Het
Myh1	T	C	11: 67,217,512	L1308P	probably damaging	Het
Nphp4	T	A	4: 152,551,931		probably null	Het
Olfr948	A	G	9: 39,319,461	I51T	probably benign	Het
Pdhx	A	G	2: 103,028,280	V393A	probably benign	Het
Pgm5	A	G	19: 24,824,399	I155T	possibly damaging	Het
Pgr	A	T	9: 8,965,022	I889F	probably benign	Het
Phactr4	T	A	4: 132,386,930	K51I	probably damaging	Het
Pum2	T	A	12: 8,728,754	I468K	possibly damaging	Het
Rab11a	A	G	9: 64,725,553	S24P	probably damaging	Het
Rasef	T	C	4: 73,748,562	Q160R	probably damaging	Het
Rbl2	A	G	8: 91,087,144	D339G	probably benign	Het
Recql5	A	G	11: 115,894,673	S666P	probably benign	Het
Rfc1	A	T	5: 65,296,052		probably null	Het
Scarb1	A	G	5: 125,289,692	V59A	probably damaging	Het
Slc2a4	C	T	11: 69,946,356	V85M	probably damaging	Het
Slc6a12	A	G	6: 121,358,625	I291V	possibly damaging	Het
Suz12	T	A	11: 79,999,078	D13E	probably damaging	Het
Tlr1	G	T	5: 64,925,967	C422*	probably null	Het
Tmco1	T	C	1: 167,325,893	V114A	probably damaging	Het
Trpa1	T	C	1: 14,881,632	T948A	probably benign	Het
Tub	A	T	7: 109,020,927	N93Y	probably damaging	Het
Ufsp2	G	A	8: 45,992,233		probably null	Het
Veph1	T	C	3: 66,171,975	D373G	probably benign	Het
Vmn1r206	A	G	13: 22,620,960	S26P	possibly damaging	Het
Vmn2r1	T	C	3: 64,081,819	S60P	possibly damaging	Het
Wdcp	A	G	12: 4,851,583	S480G	probably benign	Het
Wnk4	T	C	11: 101,268,804	S612P	probably benign	Het
Zfp503	T	C	14: 21,986,459	K130E	probably benign	Het
Zkscan16	G	A	4: 58,957,602	C628Y	possibly 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
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
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
X0017:Slco3a1	UTSW	7	74284360	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GGGTCCAACTTTGCACCACTACAC -3'
(R):5'- ATCGCCAGCAGCTTTGAGATCG -3'

Sequencing Primer
(F):5'- TGGTCGTCAATATAGGAGACCC -3'
(R):5'- CAGCTTTGAGATCGGCAAC -3'

Posted On

2013-04-16