Mutagenetix > Incidental Mutation

Incidental Mutation 'R0545:Slco3a1'

44759

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

038737-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R0545 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74275419-74554780 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 74320553 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 435 (Y435*)

Ref Sequence

ENSEMBL: ENSMUSP00000103077 (fasta)

Gene Model

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

AlphaFold

Q8R3L5

Predicted Effect

probably null
Transcript: ENSMUST00000026897
AA Change: Y435*

SMART Domains

Protein: ENSMUSP00000026897
Gene: ENSMUSG00000025790
AA Change: Y435*

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 null
Transcript: ENSMUST00000098371
AA Change: Y435*

SMART Domains

Protein: ENSMUSP00000095973
Gene: ENSMUSG00000025790
AA Change: Y435*

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 null
Transcript: ENSMUST00000107453
AA Change: Y435*

SMART Domains

Protein: ENSMUSP00000103077
Gene: ENSMUSG00000025790
AA Change: Y435*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (66/67)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	C	T	2: 19,542,376	R76H	probably damaging	Het
4932438A13Rik	G	A	3: 36,987,690		probably benign	Het
Adnp2	T	C	18: 80,129,401	I598V	probably benign	Het
Ago3	T	C	4: 126,417,232	N63D	probably damaging	Het
Alkbh7	C	T	17: 56,999,012	R138*	probably null	Het
Atp6ap1l	T	C	13: 90,883,663	H300R	probably benign	Het
BC051076	C	T	5: 87,963,490		noncoding transcript	Het
Bpifb9a	T	A	2: 154,261,950	C104*	probably null	Het
Cacna2d2	T	C	9: 107,525,223	L826P	probably damaging	Het
Car5b	G	A	X: 163,979,301	R282C	probably damaging	Het
Ccdc88c	T	C	12: 100,947,188	D526G	probably damaging	Het
Cdh23	T	A	10: 60,331,291	T1861S	probably benign	Het
Ces2f	A	C	8: 104,950,036	M121L	possibly damaging	Het
Cfap58	G	A	19: 47,941,097		probably benign	Het
Chpf2	T	C	5: 24,590,324	S282P	possibly damaging	Het
Cluap1	C	T	16: 3,933,772	R332W	probably damaging	Het
Cma2	A	T	14: 55,973,113	M86L	probably benign	Het
Cog6	A	T	3: 52,996,075	M134K	probably damaging	Het
Col1a1	A	G	11: 94,951,594	D1446G	unknown	Het
Cpne8	T	A	15: 90,497,075	D512V	probably damaging	Het
Ctnna2	T	A	6: 77,605,182	N352I	probably damaging	Het
Cyp2c69	A	C	19: 39,886,661	L16R	probably damaging	Het
Dysf	T	C	6: 84,099,461	S603P	probably damaging	Het
Epha5	A	G	5: 84,067,358		probably null	Het
Ercc3	T	C	18: 32,245,902	S270P	probably damaging	Het
F10	T	A	8: 13,048,249	C151S	probably damaging	Het
Gpr180	T	G	14: 118,160,046	H317Q	possibly damaging	Het
Gstp2	T	C	19: 4,041,633	E32G	possibly damaging	Het
Ikzf5	T	C	7: 131,392,500	T133A	possibly damaging	Het
Itch	G	T	2: 155,182,298	G274*	probably null	Het
Jarid2	T	A	13: 44,902,831	N365K	probably benign	Het
Lama3	T	A	18: 12,561,701	S1295T	possibly damaging	Het
Lipc	A	G	9: 70,812,705	L255P	probably damaging	Het
Lrrc38	A	G	4: 143,350,758	D197G	probably benign	Het
Mfap2	A	G	4: 141,014,185		probably benign	Het
Mfhas1	A	G	8: 35,589,048	K226E	probably damaging	Het
Morc1	A	G	16: 48,565,657	R548G	probably benign	Het
Mrgprb5	T	C	7: 48,168,885	N34S	probably benign	Het
Mroh4	T	C	15: 74,625,427	T182A	probably benign	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Myo5a	T	C	9: 75,167,037	F743L	possibly damaging	Het
Notch4	A	C	17: 34,583,433	D1276A	probably damaging	Het
Olfr139	A	G	11: 74,045,047	C76R	possibly damaging	Het
Olfr215	T	A	6: 116,582,656	I97L	probably benign	Het
Olfr394	A	T	11: 73,888,017	Y118*	probably null	Het
Olfr799	T	A	10: 129,647,349	C74S	probably damaging	Het
Plin4	T	A	17: 56,106,567	T353S	probably damaging	Het
Ppp1r9a	A	G	6: 5,115,357	T827A	probably benign	Het
Prlr	C	T	15: 10,317,566	T40I	probably damaging	Het
Psme3	T	C	11: 101,319,904		probably benign	Het
Pygb	A	T	2: 150,815,706	D363V	probably benign	Het
Rsph6a	C	T	7: 19,054,946	Q68*	probably null	Het
Serpini2	A	G	3: 75,258,138	V178A	probably benign	Het
Sh2d2a	T	C	3: 87,851,888		probably benign	Het
Skint7	A	C	4: 111,980,198	M58L	probably benign	Het
Stk17b	T	C	1: 53,762,583		probably benign	Het
Tinag	T	A	9: 77,031,710	H162L	possibly damaging	Het
Ttc21a	T	A	9: 119,958,799	L811Q	probably damaging	Het
Ttc41	A	T	10: 86,759,097	M912L	probably benign	Het
Vmn2r98	G	T	17: 19,053,613	V41F	probably benign	Het
Washc5	C	T	15: 59,342,093	C838Y	possibly damaging	Het
Wrnip1	A	G	13: 32,806,813	T352A	probably damaging	Het
Zan	A	C	5: 137,396,177	C4467G	unknown	Het
Zc3h7a	T	C	16: 11,152,333		probably benign	Het
Zfp729a	C	A	13: 67,620,226	C628F	probably benign	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
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
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
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
R8732:Slco3a1	UTSW	7	74284306	missense	possibly damaging	0.47
R8933:Slco3a1	UTSW	7	74284500	nonsense	probably null
R8987:Slco3a1	UTSW	7	74320576	missense	possibly damaging	0.92
R9138:Slco3a1	UTSW	7	74359916	missense	probably damaging	1.00
R9177:Slco3a1	UTSW	7	74303198	missense	probably benign	0.40
R9268:Slco3a1	UTSW	7	74303198	missense	probably benign	0.40
R9310:Slco3a1	UTSW	7	74554488	missense	probably damaging	0.99
R9342:Slco3a1	UTSW	7	74504289	missense	probably damaging	1.00
R9347:Slco3a1	UTSW	7	74284405	missense	possibly damaging	0.89
R9422:Slco3a1	UTSW	7	74297248	missense	probably damaging	1.00
R9556:Slco3a1	UTSW	7	74552157	missense	probably benign	0.00
R9560:Slco3a1	UTSW	7	74504183	missense	probably damaging	1.00
R9709:Slco3a1	UTSW	7	74303209	missense	possibly damaging	0.62
X0017:Slco3a1	UTSW	7	74284360	missense	probably benign	0.03
Z1176:Slco3a1	UTSW	7	74276014	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTGAGCCTTCCAACTGCAAGTAAG -3'
(R):5'- TCTGGGATCAGACATAAGAGCCTCC -3'

Sequencing Primer
(F):5'- CTGCTCTGGATCACTAGAGAC -3'
(R):5'- AGAGCCTCCATGAAGACTTTAG -3'

Posted On

2013-06-11