Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01483:Slco6c1'

88674

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slco6c1

Ensembl Gene

ENSMUSG00000026331

Gene Name

solute carrier organic anion transporter family, member 6c1

Synonyms

4933404A18Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01483

Quality Score

Status

Chromosome

Chromosomal Location

96986763-97056026 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97055832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 23 (N23S)

Ref Sequence

ENSEMBL: ENSMUSP00000140791 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027569] [ENSMUST00000189547]

AlphaFold

Q8C0X7

Predicted Effect

probably benign
Transcript: ENSMUST00000027569
AA Change: N23S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027569
Gene: ENSMUSG00000026331
AA Change: N23S

Domain	Start	End	E-Value	Type
low complexity region	44	55	N/A	INTRINSIC
Pfam:OATP	95	654	3e-101	PFAM
Pfam:MFS_1	207	474	6.5e-14	PFAM
Pfam:Kazal_2	497	538	7.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189547
AA Change: N23S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140791
Gene: ENSMUSG00000026331
AA Change: N23S

Domain	Start	End	E-Value	Type
low complexity region	44	55	N/A	INTRINSIC
Pfam:OATP	93	197	7.4e-12	PFAM
Pfam:MFS_1	99	457	2.2e-15	PFAM
Pfam:OATP	192	638	2.5e-64	PFAM
Pfam:Kazal_2	480	521	2.1e-8	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008E08Rik	G	T	16: 90,351,201 (GRCm39)		noncoding transcript	Het
Abcb4	T	C	5: 8,977,871 (GRCm39)	I483T	probably damaging	Het
Ank3	A	T	10: 69,710,639 (GRCm39)	H388L	probably damaging	Het
Arhgap24	T	C	5: 103,008,243 (GRCm39)	Y52H	possibly damaging	Het
Atf7ip	A	G	6: 136,564,457 (GRCm39)	N900S	probably damaging	Het
Bmp10	A	T	6: 87,410,933 (GRCm39)	D242V	probably damaging	Het
Ceacam12	A	G	7: 17,801,446 (GRCm39)	R142G	probably benign	Het
Cilp2	T	A	8: 70,335,496 (GRCm39)	I501F	probably damaging	Het
Cplane1	T	G	15: 8,216,591 (GRCm39)	I603S	probably damaging	Het
Dglucy	T	C	12: 100,819,476 (GRCm39)	V426A	probably damaging	Het
Dyrk1b	A	G	7: 27,882,101 (GRCm39)	D94G	probably damaging	Het
Efcab3	T	C	11: 104,630,173 (GRCm39)	V968A	probably benign	Het
Erbb2	C	T	11: 98,325,365 (GRCm39)	R898C	probably damaging	Het
Fbxo7	T	C	10: 85,880,445 (GRCm39)	Y298H	probably damaging	Het
Gcg	T	C	2: 62,310,827 (GRCm39)	D25G	possibly damaging	Het
Helb	A	G	10: 119,947,043 (GRCm39)	V90A	probably damaging	Het
Krt40	T	A	11: 99,433,553 (GRCm39)	E144D	probably damaging	Het
Lpo	G	A	11: 87,711,964 (GRCm39)	T31I	probably benign	Het
Mc5r	A	G	18: 68,472,315 (GRCm39)	I225V	probably damaging	Het
Mccc1	A	G	3: 36,044,009 (GRCm39)	F245L	probably damaging	Het
Mindy4	A	G	6: 55,193,670 (GRCm39)	D121G	probably damaging	Het
Nap1l4	A	T	7: 143,081,053 (GRCm39)		probably null	Het
Noc4l	T	A	5: 110,796,824 (GRCm39)	K486M	probably damaging	Het
Notum	T	C	11: 120,547,482 (GRCm39)	D271G	probably damaging	Het
Pan3	T	A	5: 147,466,783 (GRCm39)	L550Q	probably benign	Het
Pde4dip	A	G	3: 97,661,465 (GRCm39)	S594P	probably damaging	Het
Pramel12	A	T	4: 143,144,047 (GRCm39)	E131V	probably damaging	Het
Prr23a1	T	G	9: 98,725,369 (GRCm39)	S244A	probably benign	Het
Rarb	T	C	14: 16,432,273 (GRCm38)		probably benign	Het
Sh3d19	A	G	3: 86,022,103 (GRCm39)	D511G	probably benign	Het
Smarcc1	G	T	9: 110,051,128 (GRCm39)	G983*	probably null	Het
Tbc1d22a	A	T	15: 86,275,404 (GRCm39)	Q442L	probably benign	Het
Tuba1b	A	G	15: 98,830,338 (GRCm39)	Y161H	possibly damaging	Het
Zdhhc14	G	A	17: 5,762,733 (GRCm39)	M212I	probably benign	Het

Other mutations in Slco6c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00547:Slco6c1	APN	1	97,015,674 (GRCm39)	missense	probably benign	0.00
IGL00571:Slco6c1	APN	1	97,015,676 (GRCm39)	missense	probably benign	0.04
IGL01543:Slco6c1	APN	1	97,053,553 (GRCm39)	missense	possibly damaging	0.95
IGL01860:Slco6c1	APN	1	97,003,548 (GRCm39)	splice site	probably benign
IGL03106:Slco6c1	APN	1	96,993,748 (GRCm39)	splice site	probably benign
R0087:Slco6c1	UTSW	1	97,046,303 (GRCm39)	missense	probably benign	0.00
R0543:Slco6c1	UTSW	1	97,055,623 (GRCm39)	missense	probably damaging	0.99
R0674:Slco6c1	UTSW	1	97,032,498 (GRCm39)	splice site	probably benign
R0826:Slco6c1	UTSW	1	97,055,826 (GRCm39)	missense	probably benign	0.00
R0928:Slco6c1	UTSW	1	97,032,573 (GRCm39)	missense	possibly damaging	0.88
R0969:Slco6c1	UTSW	1	97,047,685 (GRCm39)	missense	probably benign	0.05
R1366:Slco6c1	UTSW	1	97,055,928 (GRCm39)	start gained	probably null
R1559:Slco6c1	UTSW	1	97,026,223 (GRCm39)	missense	probably damaging	1.00
R1594:Slco6c1	UTSW	1	96,990,163 (GRCm39)	missense	probably benign	0.36
R1901:Slco6c1	UTSW	1	97,000,707 (GRCm39)	missense	probably damaging	0.98
R2005:Slco6c1	UTSW	1	97,009,214 (GRCm39)	missense	probably damaging	0.99
R2101:Slco6c1	UTSW	1	97,000,595 (GRCm39)	nonsense	probably null
R2102:Slco6c1	UTSW	1	97,055,656 (GRCm39)	missense	probably benign	0.02
R2120:Slco6c1	UTSW	1	96,993,808 (GRCm39)	missense	possibly damaging	0.57
R2135:Slco6c1	UTSW	1	97,032,542 (GRCm39)	missense	probably benign	0.01
R2295:Slco6c1	UTSW	1	97,053,473 (GRCm39)	missense	probably damaging	1.00
R2437:Slco6c1	UTSW	1	96,990,201 (GRCm39)	missense	probably benign	0.22
R4004:Slco6c1	UTSW	1	97,003,610 (GRCm39)	missense	probably damaging	1.00
R4133:Slco6c1	UTSW	1	97,009,218 (GRCm39)	missense	probably benign	0.02
R4643:Slco6c1	UTSW	1	96,990,149 (GRCm39)	missense	probably benign	0.00
R4786:Slco6c1	UTSW	1	97,015,720 (GRCm39)	missense	probably benign	0.04
R4942:Slco6c1	UTSW	1	97,009,049 (GRCm39)	missense	probably damaging	1.00
R5485:Slco6c1	UTSW	1	97,053,481 (GRCm39)	missense	probably damaging	1.00
R5573:Slco6c1	UTSW	1	97,055,656 (GRCm39)	missense	probably benign	0.00
R5810:Slco6c1	UTSW	1	97,003,598 (GRCm39)	missense	probably damaging	1.00
R6033:Slco6c1	UTSW	1	97,009,041 (GRCm39)	splice site	probably null
R6033:Slco6c1	UTSW	1	97,009,041 (GRCm39)	splice site	probably null
R6191:Slco6c1	UTSW	1	96,993,808 (GRCm39)	missense	possibly damaging	0.57
R6197:Slco6c1	UTSW	1	97,000,518 (GRCm39)	critical splice donor site	probably null
R6286:Slco6c1	UTSW	1	97,053,445 (GRCm39)	missense	possibly damaging	0.90
R6404:Slco6c1	UTSW	1	97,046,330 (GRCm39)	missense	probably damaging	1.00
R6430:Slco6c1	UTSW	1	97,003,699 (GRCm39)	missense	probably benign	0.43
R6492:Slco6c1	UTSW	1	97,053,538 (GRCm39)	missense	probably damaging	0.99
R6649:Slco6c1	UTSW	1	97,053,436 (GRCm39)	missense	probably benign	0.44
R6940:Slco6c1	UTSW	1	97,000,626 (GRCm39)	missense	possibly damaging	0.80
R7138:Slco6c1	UTSW	1	97,047,706 (GRCm39)	missense	possibly damaging	0.95
R7213:Slco6c1	UTSW	1	97,055,671 (GRCm39)	missense	probably benign
R7234:Slco6c1	UTSW	1	97,053,466 (GRCm39)	missense	probably benign	0.06
R7320:Slco6c1	UTSW	1	97,055,887 (GRCm39)	missense	possibly damaging	0.83
R7375:Slco6c1	UTSW	1	97,009,146 (GRCm39)	missense	possibly damaging	0.58
R7383:Slco6c1	UTSW	1	97,003,608 (GRCm39)	nonsense	probably null
R7422:Slco6c1	UTSW	1	97,009,207 (GRCm39)	missense	probably benign	0.17
R7491:Slco6c1	UTSW	1	97,055,579 (GRCm39)	missense	probably benign	0.32
R7561:Slco6c1	UTSW	1	97,000,691 (GRCm39)	missense	probably damaging	1.00
R7890:Slco6c1	UTSW	1	96,990,192 (GRCm39)	missense	possibly damaging	0.59
R8115:Slco6c1	UTSW	1	97,000,686 (GRCm39)	missense	probably damaging	1.00
R8409:Slco6c1	UTSW	1	97,003,663 (GRCm39)	missense	probably damaging	0.99
R8422:Slco6c1	UTSW	1	97,053,508 (GRCm39)	missense	probably damaging	1.00
R8824:Slco6c1	UTSW	1	97,055,884 (GRCm39)	missense	possibly damaging	0.84
R8905:Slco6c1	UTSW	1	97,053,391 (GRCm39)	missense	possibly damaging	0.68
R9183:Slco6c1	UTSW	1	96,996,775 (GRCm39)	critical splice acceptor site	probably null
R9300:Slco6c1	UTSW	1	96,993,809 (GRCm39)	missense	probably benign	0.37
R9359:Slco6c1	UTSW	1	96,990,248 (GRCm39)	missense	possibly damaging	0.94
R9374:Slco6c1	UTSW	1	97,055,827 (GRCm39)	missense	probably benign	0.00
R9403:Slco6c1	UTSW	1	96,990,248 (GRCm39)	missense	possibly damaging	0.94
R9499:Slco6c1	UTSW	1	97,055,827 (GRCm39)	missense	probably benign	0.00
R9551:Slco6c1	UTSW	1	97,055,827 (GRCm39)	missense	probably benign	0.00
R9674:Slco6c1	UTSW	1	97,047,565 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-18