Mutagenetix > Incidental Mutation

Incidental Mutation 'R8279:Slco3a1'

638113

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, Anr1, MJAM

MMRRC Submission

067702-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R8279 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73925167-74204528 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73934144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 676 (D676G)

Ref Sequence

ENSEMBL: ENSMUSP00000026897 (fasta)

Gene Model

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

AlphaFold

Q8R3L5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026897
AA Change: D676G

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026897
Gene: ENSMUSG00000025790
AA Change: D676G

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

SMART Domains

Protein: ENSMUSP00000095973
Gene: ENSMUSG00000025790

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,069,549 (GRCm39)	N1282S	probably benign	Het
Als2cl	A	G	9: 110,723,653 (GRCm39)	H683R	probably damaging	Het
Ank2	C	T	3: 126,726,820 (GRCm39)	D825N	probably benign	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
Axl	C	T	7: 25,463,379 (GRCm39)	D633N	probably benign	Het
C3	A	G	17: 57,522,809 (GRCm39)	V1025A	probably benign	Het
Cc2d2a	T	C	5: 43,893,487 (GRCm39)	S1489P	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cdk14	G	A	5: 5,316,125 (GRCm39)		probably benign	Het
Clpb	T	C	7: 101,355,695 (GRCm39)	V183A	possibly damaging	Het
Cpa3	C	T	3: 20,277,478 (GRCm39)	M232I	possibly damaging	Het
Cyp2j7	A	G	4: 96,116,796 (GRCm39)		probably null	Het
Dnah2	A	G	11: 69,366,399 (GRCm39)	I1907T	probably damaging	Het
Efemp1	T	C	11: 28,871,795 (GRCm39)	F437L	possibly damaging	Het
Fat1	T	A	8: 45,483,384 (GRCm39)		probably null	Het
Fry	A	T	5: 150,419,726 (GRCm39)	T599S		Het
Gm10142	T	A	10: 77,552,001 (GRCm39)	*121R	probably null	Het
Kcng3	A	C	17: 83,895,254 (GRCm39)	F404C	probably damaging	Het
Mefv	T	G	16: 3,533,086 (GRCm39)	H395P	unknown	Het
Mrc1	T	A	2: 14,271,168 (GRCm39)	D357E	possibly damaging	Het
Muc15	A	G	2: 110,562,052 (GRCm39)	T163A	probably benign	Het
Ncdn	T	C	4: 126,644,199 (GRCm39)	T208A	probably benign	Het
Or2q1	A	T	6: 42,794,557 (GRCm39)	I51F	probably damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Pdpk1	A	G	17: 24,307,147 (GRCm39)	S395P	probably benign	Het
Slc27a6	T	C	18: 58,705,251 (GRCm39)	V211A	probably benign	Het
Slfn4	T	G	11: 83,077,482 (GRCm39)	M90R	possibly damaging	Het
Ssbp4	T	C	8: 71,054,955 (GRCm39)	D68G	probably damaging	Het
Sval3	A	G	6: 41,949,371 (GRCm39)	T70A	possibly damaging	Het
Taf1c	C	T	8: 120,325,750 (GRCm39)	R704Q	probably benign	Het
Tex15	T	A	8: 34,061,765 (GRCm39)	D398E	probably damaging	Het
Tmprss3	A	T	17: 31,416,709 (GRCm39)	V9E	probably benign	Het
Vps35l	T	A	7: 118,345,722 (GRCm39)	M109K	probably benign	Het

Other mutations in Slco3a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Slco3a1	APN	7	74,153,931 (GRCm39)	missense	probably damaging	1.00
IGL01124:Slco3a1	APN	7	73,934,295 (GRCm39)	missense	probably damaging	1.00
IGL01583:Slco3a1	APN	7	73,934,198 (GRCm39)	missense	probably benign	0.01
IGL01929:Slco3a1	APN	7	73,968,353 (GRCm39)	splice site	probably benign
IGL01991:Slco3a1	APN	7	73,934,144 (GRCm39)	missense	possibly damaging	0.84
IGL02380:Slco3a1	APN	7	74,204,238 (GRCm39)	missense	probably damaging	1.00
IGL03269:Slco3a1	APN	7	73,968,280 (GRCm39)	missense	possibly damaging	0.58
R0052:Slco3a1	UTSW	7	74,154,074 (GRCm39)	missense	probably benign	0.00
R0052:Slco3a1	UTSW	7	74,154,074 (GRCm39)	missense	probably benign	0.00
R0317:Slco3a1	UTSW	7	74,154,174 (GRCm39)	missense	probably damaging	1.00
R0545:Slco3a1	UTSW	7	73,970,301 (GRCm39)	nonsense	probably null
R0613:Slco3a1	UTSW	7	73,996,382 (GRCm39)	unclassified	probably benign
R1488:Slco3a1	UTSW	7	73,996,449 (GRCm39)	missense	possibly damaging	0.94
R1506:Slco3a1	UTSW	7	74,009,683 (GRCm39)	splice site	probably null
R1571:Slco3a1	UTSW	7	74,154,128 (GRCm39)	missense	possibly damaging	0.92
R1912:Slco3a1	UTSW	7	74,154,359 (GRCm39)	missense	probably damaging	1.00
R2011:Slco3a1	UTSW	7	73,996,419 (GRCm39)	missense	probably benign	0.08
R2382:Slco3a1	UTSW	7	73,996,524 (GRCm39)	missense	probably benign	0.00
R3735:Slco3a1	UTSW	7	74,154,245 (GRCm39)	missense	probably damaging	1.00
R3894:Slco3a1	UTSW	7	73,934,361 (GRCm39)	missense	probably damaging	1.00
R4151:Slco3a1	UTSW	7	74,009,586 (GRCm39)	missense	probably damaging	1.00
R4175:Slco3a1	UTSW	7	73,968,302 (GRCm39)	missense	probably damaging	0.97
R4303:Slco3a1	UTSW	7	74,204,276 (GRCm39)	missense	probably benign	0.03
R4462:Slco3a1	UTSW	7	74,204,311 (GRCm39)	missense	probably benign	0.18
R4702:Slco3a1	UTSW	7	73,970,315 (GRCm39)	missense	probably damaging	0.98
R4896:Slco3a1	UTSW	7	73,970,304 (GRCm39)	missense	probably null	1.00
R5419:Slco3a1	UTSW	7	73,934,363 (GRCm39)	missense	possibly damaging	0.77
R5561:Slco3a1	UTSW	7	73,968,247 (GRCm39)	missense	possibly damaging	0.67
R5597:Slco3a1	UTSW	7	73,934,210 (GRCm39)	missense	probably benign	0.31
R5698:Slco3a1	UTSW	7	73,996,566 (GRCm39)	missense	probably damaging	1.00
R6086:Slco3a1	UTSW	7	73,968,338 (GRCm39)	missense	possibly damaging	0.64
R6117:Slco3a1	UTSW	7	73,968,254 (GRCm39)	missense	probably benign	0.02
R6118:Slco3a1	UTSW	7	73,968,254 (GRCm39)	missense	probably benign	0.02
R6123:Slco3a1	UTSW	7	73,968,254 (GRCm39)	missense	probably benign	0.02
R6124:Slco3a1	UTSW	7	73,968,254 (GRCm39)	missense	probably benign	0.02
R6125:Slco3a1	UTSW	7	73,968,254 (GRCm39)	missense	probably benign	0.02
R7147:Slco3a1	UTSW	7	74,154,042 (GRCm39)	missense	probably damaging	1.00
R7332:Slco3a1	UTSW	7	73,968,232 (GRCm39)	missense	possibly damaging	0.95
R7335:Slco3a1	UTSW	7	73,934,090 (GRCm39)	missense	probably damaging	0.99
R7646:Slco3a1	UTSW	7	74,154,344 (GRCm39)	missense	probably damaging	1.00
R7798:Slco3a1	UTSW	7	73,968,344 (GRCm39)	missense	probably benign	0.00
R8024:Slco3a1	UTSW	7	74,204,218 (GRCm39)	missense	probably benign	0.24
R8128:Slco3a1	UTSW	7	73,934,049 (GRCm39)	missense	probably damaging	1.00
R8184:Slco3a1	UTSW	7	74,009,577 (GRCm39)	missense	probably benign	0.01
R8192:Slco3a1	UTSW	7	73,970,338 (GRCm39)	missense	probably benign	0.13
R8511:Slco3a1	UTSW	7	73,952,990 (GRCm39)	missense	probably benign	0.33
R8732:Slco3a1	UTSW	7	73,934,054 (GRCm39)	missense	possibly damaging	0.47
R8933:Slco3a1	UTSW	7	73,934,248 (GRCm39)	nonsense	probably null
R8987:Slco3a1	UTSW	7	73,970,324 (GRCm39)	missense	possibly damaging	0.92
R9138:Slco3a1	UTSW	7	74,009,664 (GRCm39)	missense	probably damaging	1.00
R9177:Slco3a1	UTSW	7	73,952,946 (GRCm39)	missense	probably benign	0.40
R9268:Slco3a1	UTSW	7	73,952,946 (GRCm39)	missense	probably benign	0.40
R9310:Slco3a1	UTSW	7	74,204,236 (GRCm39)	missense	probably damaging	0.99
R9342:Slco3a1	UTSW	7	74,154,037 (GRCm39)	missense	probably damaging	1.00
R9347:Slco3a1	UTSW	7	73,934,153 (GRCm39)	missense	possibly damaging	0.89
R9422:Slco3a1	UTSW	7	73,946,996 (GRCm39)	missense	probably damaging	1.00
R9556:Slco3a1	UTSW	7	74,201,905 (GRCm39)	missense	probably benign	0.00
R9560:Slco3a1	UTSW	7	74,153,931 (GRCm39)	missense	probably damaging	1.00
R9709:Slco3a1	UTSW	7	73,952,957 (GRCm39)	missense	possibly damaging	0.62
X0017:Slco3a1	UTSW	7	73,934,108 (GRCm39)	missense	probably benign	0.03
Z1176:Slco3a1	UTSW	7	73,925,762 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTGAATCCTGACTGGCTCTGAG -3'
(R):5'- GACAATGTGGTCTACAGATACCTG -3'

Sequencing Primer
(F):5'- CTGGCTCTGAGTTTTAGAAAAAGGAC -3'
(R):5'- GATACCTGTACGTCAGCATCG -3'

Posted On

2020-07-28