Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03269:Slco3a1'

415207

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slco3a1

Ensembl Gene

ENSMUSG00000025790

Gene Name

solute carrier organic anion transporter family, member 3a1

Synonyms

OATP-D, Slc21a11, 5830414C08Rik, Anr1, MJAM

Accession Numbers

Essential gene?

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

Stock #

IGL03269

Quality Score

Status

Chromosome

Chromosomal Location

73925167-74204528 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73968280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 480 (D480G)

Ref Sequence

ENSEMBL: ENSMUSP00000103077 (fasta)

Gene Model

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

AlphaFold

Q8R3L5

Predicted Effect

probably benign
Transcript: ENSMUST00000026897
AA Change: D480G

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000026897
Gene: ENSMUSG00000025790
AA Change: D480G

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: D480G

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000095973
Gene: ENSMUSG00000025790
AA Change: D480G

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

possibly damaging
Transcript: ENSMUST00000107453
AA Change: D480G

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103077
Gene: ENSMUSG00000025790
AA Change: D480G

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	T	A	2: 26,998,367 (GRCm39)	C930*	probably null	Het
Ankar	A	T	1: 72,704,360 (GRCm39)	V854E	probably damaging	Het
Ceacam3	T	A	7: 16,895,767 (GRCm39)	L579Q	probably damaging	Het
Clip2	G	T	5: 134,545,748 (GRCm39)	H314Q	probably damaging	Het
Fbxo28	A	G	1: 182,144,583 (GRCm39)	V327A	possibly damaging	Het
Gdap1	T	A	1: 17,231,729 (GRCm39)	F358Y	probably benign	Het
Ift70a2	T	C	2: 75,808,479 (GRCm39)	D11G	possibly damaging	Het
Ighv1-18	T	C	12: 114,646,466 (GRCm39)	Y46C	probably damaging	Het
Il1rl2	T	A	1: 40,404,472 (GRCm39)	F531Y	probably damaging	Het
Irf6	A	G	1: 192,844,906 (GRCm39)		probably benign	Het
Ncoa6	T	C	2: 155,248,409 (GRCm39)	T1632A	probably damaging	Het
Odad3	A	G	9: 21,909,339 (GRCm39)		probably null	Het
Or4l1	T	A	14: 50,166,165 (GRCm39)	T279S	probably damaging	Het
Or5b3	T	A	19: 13,388,792 (GRCm39)	N286K	probably damaging	Het
Or8b43	A	G	9: 38,360,197 (GRCm39)	T10A	probably benign	Het
Osgepl1	C	A	1: 53,360,271 (GRCm39)	Y332*	probably null	Het
Pibf1	G	A	14: 99,425,171 (GRCm39)	A553T	probably damaging	Het
Prpf38b	A	G	3: 108,812,557 (GRCm39)	F219L	probably benign	Het
Pwp1	C	A	10: 85,718,768 (GRCm39)	Q312K	probably damaging	Het
Rnf17	T	C	14: 56,665,403 (GRCm39)	V185A	possibly damaging	Het
Serpina3k	T	C	12: 104,306,780 (GRCm39)	I4T	possibly damaging	Het
Slc33a1	A	G	3: 63,871,178 (GRCm39)	V145A	probably damaging	Het
Tdpoz4	G	A	3: 93,704,144 (GRCm39)	C147Y	probably damaging	Het
Tlr4	C	A	4: 66,759,033 (GRCm39)	P609T	probably damaging	Het
Trgv4	T	A	13: 19,369,622 (GRCm39)	I122K	probably damaging	Het
Unc79	A	G	12: 103,054,936 (GRCm39)	K927E	probably damaging	Het
Vmn1r71	G	A	7: 10,482,571 (GRCm39)	T39I	possibly damaging	Het
Vmn2r9	A	G	5: 108,995,820 (GRCm39)	L276P	probably damaging	Het
Zfp335	C	A	2: 164,742,274 (GRCm39)	R570L	probably damaging	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
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
R8279:Slco3a1	UTSW	7	73,934,144 (GRCm39)	missense	possibly damaging	0.84
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

Posted On

2016-08-02