Mutagenetix > Incidental Mutation

Incidental Mutation 'R4462:Slco3a1'

330183

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

Accession Numbers

Essential gene?

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

Stock #

R4462 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

73925167-74204528 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 74204311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 10 (S10A)

Ref Sequence

ENSEMBL: ENSMUSP00000103077 (fasta)

Gene Model

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

AlphaFold

Q8R3L5

Predicted Effect

probably benign
Transcript: ENSMUST00000026897
AA Change: S10A

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000026897
Gene: ENSMUSG00000025790
AA Change: S10A

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: S10A

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000095973
Gene: ENSMUSG00000025790
AA Change: S10A

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 benign
Transcript: ENSMUST00000107453
AA Change: S10A

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103077
Gene: ENSMUSG00000025790
AA Change: S10A

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

probably benign
Transcript: ENSMUST00000134539

SMART Domains

Protein: ENSMUSP00000116946
Gene: ENSMUSG00000025790

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

probably benign
Transcript: ENSMUST00000138099

SMART Domains

Protein: ENSMUSP00000115279
Gene: ENSMUSG00000025790

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcyap1r1	A	T	6: 55,457,084 (GRCm39)	I272F	possibly damaging	Het
Adgrl3	C	T	5: 81,836,357 (GRCm39)	A705V	probably damaging	Het
Arhgef12	A	T	9: 42,893,278 (GRCm39)	V975E	probably damaging	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Btnl6	A	G	17: 34,727,031 (GRCm39)	S500P	probably damaging	Het
Ccdc39	C	T	3: 33,868,817 (GRCm39)	R798Q	probably damaging	Het
Cdkn2d	C	G	9: 21,202,185 (GRCm39)	V21L	probably benign	Het
Cdon	T	C	9: 35,368,876 (GRCm39)	V34A	probably damaging	Het
Defa17	A	G	8: 22,146,553 (GRCm39)	R60G	probably benign	Het
Egr2	GAA	GA	10: 67,375,733 (GRCm39)		probably null	Het
Fuca2	T	C	10: 13,378,979 (GRCm39)	V41A	probably damaging	Het
Ggt6	C	A	11: 72,328,654 (GRCm39)	H385N	possibly damaging	Het
Hgsnat	G	A	8: 26,444,664 (GRCm39)	T428I	probably damaging	Het
Nefh	A	G	11: 4,891,015 (GRCm39)	S535P	probably damaging	Het
Or2y6	T	A	11: 52,104,801 (GRCm39)	N5I	probably damaging	Het
Or8b1c	T	A	9: 38,384,360 (GRCm39)	F106I	probably benign	Het
Pkhd1l1	T	C	15: 44,445,200 (GRCm39)	F3691L	probably damaging	Het
Polr2a	T	C	11: 69,637,229 (GRCm39)	D282G	probably damaging	Het
Ranbp17	T	C	11: 33,167,421 (GRCm39)		probably null	Het
Slc13a2	T	C	11: 78,295,213 (GRCm39)	T187A	probably benign	Het
Snph	A	T	2: 151,436,035 (GRCm39)	S229T	probably damaging	Het
Trim38	A	G	13: 23,975,435 (GRCm39)	Y458C	probably null	Het
Ubr4	A	G	4: 139,145,813 (GRCm39)	M1537V	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- GAAACAGTTTCATGCCCACC -3'
(R):5'- GAGCCTTCAACCTCTCTAGC -3'

Sequencing Primer
(F):5'- GCGGCATCTCCTTTCAGG -3'
(R):5'- TCAACCTCTCTAGCCGCGG -3'

Posted On

2015-07-21