Mutagenetix > Incidental Mutation

Incidental Mutation 'R8933:Slco3a1'

680446

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R8933 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74275419-74554780 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 74284500 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 641 (Y641*)

Ref Sequence

ENSEMBL: ENSMUSP00000095973 (fasta)

Gene Model

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

AlphaFold

Q8R3L5

Predicted Effect

probably null
Transcript: ENSMUST00000026897
AA Change: Y641*

SMART Domains

Protein: ENSMUSP00000026897
Gene: ENSMUSG00000025790
AA Change: Y641*

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: Y641*

SMART Domains

Protein: ENSMUSP00000095973
Gene: ENSMUSG00000025790
AA Change: Y641*

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: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (86/86)

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,128,137	I1114N	probably damaging	Het
Ache	C	A	5: 137,290,187	R52S	possibly damaging	Het
AI182371	A	T	2: 35,085,702		probably null	Het
Ankrd17	T	C	5: 90,258,466	S1453G	probably damaging	Het
Arvcf	A	G	16: 18,400,095	N508S	probably damaging	Het
Aurkc	A	C	7: 7,002,797	D136A	possibly damaging	Het
Bfsp2	A	G	9: 103,448,649	M265T	probably benign	Het
Bmpr1b	T	C	3: 141,856,608	T273A	probably damaging	Het
Cacnb1	T	C	11: 98,005,752	K406R	probably damaging	Het
Calcoco2	C	T	11: 96,107,426		probably benign	Het
Capza1	T	C	3: 104,840,893		probably null	Het
Ccdc63	T	A	5: 122,113,202	I382F	probably damaging	Het
Cep350	A	T	1: 155,863,415	N2227K	probably benign	Het
Chia1	T	A	3: 106,129,017	Y304*	probably null	Het
Col5a2	G	A	1: 45,421,963	P258L		Het
Cyp21a1	A	G	17: 34,804,311	L30P	probably damaging	Het
Dennd4b	T	A	3: 90,279,216	H1351Q	probably benign	Het
Dnah9	T	A	11: 65,855,252	I4012F	possibly damaging	Het
Drd1	A	G	13: 54,053,271	I301T	possibly damaging	Het
Dzip1	T	A	14: 118,906,914	H369L	probably damaging	Het
Fgfrl1	T	A	5: 108,703,391	M58K	probably damaging	Het
Ftsj3	G	T	11: 106,250,834	D529E	probably benign	Het
Fut9	A	T	4: 25,619,861	W318R	probably damaging	Het
Gabrg3	A	G	7: 56,984,958	I159T	probably damaging	Het
Gabrr1	A	T	4: 33,146,972	D53V	probably benign	Het
Ggps1	A	G	13: 14,054,343	V85A	probably benign	Het
Gm5141	C	T	13: 62,777,040	W18*	probably null	Het
Grik5	T	A	7: 25,023,318	T518S	probably benign	Het
Hapln3	A	T	7: 79,117,630		probably benign	Het
Hbs1l	C	T	10: 21,367,685	Q646*	probably null	Het
Hmox1	T	C	8: 75,097,016	I104T	probably benign	Het
Ifit1bl1	T	C	19: 34,594,013	Y348C	probably damaging	Het
Igf2r	A	T	17: 12,701,244	S1403T	probably damaging	Het
Igf2r	G	A	17: 12,704,637	T1186M	probably damaging	Het
Igfbp1	T	C	11: 7,198,333		probably null	Het
Ikbip	C	A	10: 91,083,230	A35E	probably benign	Het
Isca1	C	T	13: 59,769,683	A8T	probably damaging	Het
Itgb2	T	C	10: 77,565,188	L754P	probably damaging	Het
Itgb6	C	T	2: 60,627,903	C502Y	probably damaging	Het
Kdm3a	A	G	6: 71,600,108	V741A	probably benign	Het
Kdsr	T	C	1: 106,753,219	D83G	possibly damaging	Het
Kiz	T	A	2: 146,942,117	N523K		Het
Kmt2a	T	C	9: 44,822,505		probably benign	Het
Krt25	T	C	11: 99,321,238	E191G	probably benign	Het
Lipn	A	G	19: 34,069,480	I61V	probably damaging	Het
Lmbr1l	T	A	15: 98,909,269		probably null	Het
Lrrc4c	A	G	2: 97,629,481	K151E	probably benign	Het
Mab21l3	T	C	3: 101,823,458	Q155R	probably benign	Het
Mtfr2	G	A	10: 20,357,528	R281H	possibly damaging	Het
Muc5ac	A	G	7: 141,789,756	Y35C	possibly damaging	Het
Myadm	C	T	7: 3,296,917	T65I	probably benign	Het
Nap1l1	T	C	10: 111,492,849	V213A	probably benign	Het
Nav2	A	G	7: 49,461,957	D737G	probably damaging	Het
Ndst4	T	A	3: 125,611,506	V470D	probably damaging	Het
Nek5	T	A	8: 22,111,210	Y165F	probably damaging	Het
Nek5	A	T	8: 22,120,843	V48E	probably damaging	Het
Nr6a1	T	C	2: 38,760,388	I77V	probably damaging	Het
Nvl	A	T	1: 181,139,073	D93E	probably benign	Het
Olfr450	A	G	6: 42,818,016	T182A	probably benign	Het
Olfr552	A	T	7: 102,604,430	L25F	probably damaging	Het
Olfr656	A	T	7: 104,617,666	T4S	probably benign	Het
Olfr678	A	G	7: 105,069,392		probably benign	Het
Olfr780	A	T	10: 129,322,390	I256F	probably damaging	Het
Olfr96	C	A	17: 37,225,455	T110K	possibly damaging	Het
Pla2g4c	G	A	7: 13,339,702	V225I	probably benign	Het
Plppr4	T	A	3: 117,323,041	N331I	probably damaging	Het
Ptpn13	A	G	5: 103,579,805	R2051G	probably benign	Het
Rbm45	T	C	2: 76,378,724	S346P	probably damaging	Het
Samd14	A	C	11: 95,021,201	D168A	probably damaging	Het
Slc15a1	C	T	14: 121,486,679	G172R	probably benign	Het
Srcap	G	A	7: 127,552,394	R2027H	probably damaging	Het
Stra8	A	T	6: 34,927,689		probably benign	Het
Syt11	T	C	3: 88,747,704	Y430C	probably damaging	Het
Tanc1	T	G	2: 59,785,456	V269G	possibly damaging	Het
Tead1	A	G	7: 112,898,611	N342S	probably benign	Het
Tenm3	C	T	8: 48,279,060	A1254T	possibly damaging	Het
Txlnb	A	T	10: 17,806,798	N156I	probably damaging	Het
Ufl1	A	T	4: 25,262,258	S409R	possibly damaging	Het
Usp17la	A	G	7: 104,861,100	H304R	probably benign	Het
Vmn1r203	T	A	13: 22,524,521	H157Q	possibly damaging	Het
Vmn1r37	C	T	6: 66,732,247	R249*	probably null	Het
Vmn2r96	A	G	17: 18,583,979	Q497R	probably benign	Het
Vps39	A	G	2: 120,338,585	S292P	probably benign	Het
Wnk1	A	G	6: 120,036,998	V212A	probably damaging	Het
Xbp1	T	C	11: 5,524,741	V161A	probably benign	Het
Zfp113	T	C	5: 138,144,830	Q386R	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
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
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'- ACAGATTCCATGTTTTCACACCAC -3'
(R):5'- ATTCTCTCCCAGAGCCAGAG -3'

Sequencing Primer
(F):5'- GATTCCATGTTTTCACACCACTCATG -3'
(R):5'- TCTCCCAGAGCCAGAGTTTGAAATG -3'

Posted On

2021-08-31