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

97059038-97128301 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97128107 bp (GRCm38)

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: 90,554,313		noncoding transcript	Het
2410089E03Rik	T	G	15: 8,187,107	I603S	probably damaging	Het
Abcb4	T	C	5: 8,927,871	I483T	probably damaging	Het
Ank3	A	T	10: 69,874,809	H388L	probably damaging	Het
Arhgap24	T	C	5: 102,860,377	Y52H	possibly damaging	Het
Atf7ip	A	G	6: 136,587,459	N900S	probably damaging	Het
Bmp10	A	T	6: 87,433,951	D242V	probably damaging	Het
Ceacam12	A	G	7: 18,067,521	R142G	probably benign	Het
Cilp2	T	A	8: 69,882,846	I501F	probably damaging	Het
Dglucy	T	C	12: 100,853,217	V426A	probably damaging	Het
Dyrk1b	A	G	7: 28,182,676	D94G	probably damaging	Het
Erbb2	C	T	11: 98,434,539	R898C	probably damaging	Het
Fbxo7	T	C	10: 86,044,581	Y298H	probably damaging	Het
Gcg	T	C	2: 62,480,483	D25G	possibly damaging	Het
Gm11639	T	C	11: 104,739,347	V968A	probably benign	Het
Helb	A	G	10: 120,111,138	V90A	probably damaging	Het
Krt40	T	A	11: 99,542,727	E144D	probably damaging	Het
Lpo	G	A	11: 87,821,138	T31I	probably benign	Het
Mc5r	A	G	18: 68,339,244	I225V	probably damaging	Het
Mccc1	A	G	3: 35,989,860	F245L	probably damaging	Het
Mindy4	A	G	6: 55,216,685	D121G	probably damaging	Het
Nap1l4	A	T	7: 143,527,316		probably null	Het
Noc4l	T	A	5: 110,648,958	K486M	probably damaging	Het
Notum	T	C	11: 120,656,656	D271G	probably damaging	Het
Pan3	T	A	5: 147,529,973	L550Q	probably benign	Het
Pde4dip	A	G	3: 97,754,149	S594P	probably damaging	Het
Pramef8	A	T	4: 143,417,477	E131V	probably damaging	Het
Prr23a1	T	G	9: 98,843,316	S244A	probably benign	Het
Rarb	T	C	14: 16,432,273		probably benign	Het
Sh3d19	A	G	3: 86,114,796	D511G	probably benign	Het
Smarcc1	G	T	9: 110,222,060	G983*	probably null	Het
Tbc1d22a	A	T	15: 86,391,203	Q442L	probably benign	Het
Tuba1b	A	G	15: 98,932,457	Y161H	possibly damaging	Het
Zdhhc14	G	A	17: 5,712,458	M212I	probably benign	Het

Other mutations in Slco6c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00547:Slco6c1	APN	1	97087949	missense	probably benign	0.00
IGL00571:Slco6c1	APN	1	97087951	missense	probably benign	0.04
IGL01543:Slco6c1	APN	1	97125828	missense	possibly damaging	0.95
IGL01860:Slco6c1	APN	1	97075823	splice site	probably benign
IGL03106:Slco6c1	APN	1	97066023	splice site	probably benign
R0087:Slco6c1	UTSW	1	97118578	missense	probably benign	0.00
R0543:Slco6c1	UTSW	1	97127898	missense	probably damaging	0.99
R0674:Slco6c1	UTSW	1	97104773	splice site	probably benign
R0826:Slco6c1	UTSW	1	97128101	missense	probably benign	0.00
R0928:Slco6c1	UTSW	1	97104848	missense	possibly damaging	0.88
R0969:Slco6c1	UTSW	1	97119960	missense	probably benign	0.05
R1366:Slco6c1	UTSW	1	97128203	start gained	probably null
R1559:Slco6c1	UTSW	1	97098498	missense	probably damaging	1.00
R1594:Slco6c1	UTSW	1	97062438	missense	probably benign	0.36
R1901:Slco6c1	UTSW	1	97072982	missense	probably damaging	0.98
R2005:Slco6c1	UTSW	1	97081489	missense	probably damaging	0.99
R2101:Slco6c1	UTSW	1	97072870	nonsense	probably null
R2102:Slco6c1	UTSW	1	97127931	missense	probably benign	0.02
R2120:Slco6c1	UTSW	1	97066083	missense	possibly damaging	0.57
R2135:Slco6c1	UTSW	1	97104817	missense	probably benign	0.01
R2295:Slco6c1	UTSW	1	97125748	missense	probably damaging	1.00
R2437:Slco6c1	UTSW	1	97062476	missense	probably benign	0.22
R4004:Slco6c1	UTSW	1	97075885	missense	probably damaging	1.00
R4133:Slco6c1	UTSW	1	97081493	missense	probably benign	0.02
R4643:Slco6c1	UTSW	1	97062424	missense	probably benign	0.00
R4786:Slco6c1	UTSW	1	97087995	missense	probably benign	0.04
R4942:Slco6c1	UTSW	1	97081324	missense	probably damaging	1.00
R5485:Slco6c1	UTSW	1	97125756	missense	probably damaging	1.00
R5573:Slco6c1	UTSW	1	97127931	missense	probably benign	0.00
R5810:Slco6c1	UTSW	1	97075873	missense	probably damaging	1.00
R6033:Slco6c1	UTSW	1	97081316	splice site	probably null
R6033:Slco6c1	UTSW	1	97081316	splice site	probably null
R6191:Slco6c1	UTSW	1	97066083	missense	possibly damaging	0.57
R6197:Slco6c1	UTSW	1	97072793	critical splice donor site	probably null
R6286:Slco6c1	UTSW	1	97125720	missense	possibly damaging	0.90
R6404:Slco6c1	UTSW	1	97118605	missense	probably damaging	1.00
R6430:Slco6c1	UTSW	1	97075974	missense	probably benign	0.43
R6492:Slco6c1	UTSW	1	97125813	missense	probably damaging	0.99
R6649:Slco6c1	UTSW	1	97125711	missense	probably benign	0.44
R6940:Slco6c1	UTSW	1	97072901	missense	possibly damaging	0.80
R7138:Slco6c1	UTSW	1	97119981	missense	possibly damaging	0.95
R7213:Slco6c1	UTSW	1	97127946	missense	probably benign
R7234:Slco6c1	UTSW	1	97125741	missense	probably benign	0.06
R7320:Slco6c1	UTSW	1	97128162	missense	possibly damaging	0.83
R7375:Slco6c1	UTSW	1	97081421	missense	possibly damaging	0.58
R7383:Slco6c1	UTSW	1	97075883	nonsense	probably null
R7422:Slco6c1	UTSW	1	97081482	missense	probably benign	0.17
R7491:Slco6c1	UTSW	1	97127854	missense	probably benign	0.32
R7561:Slco6c1	UTSW	1	97072966	missense	probably damaging	1.00
R7890:Slco6c1	UTSW	1	97062467	missense	possibly damaging	0.59
R8115:Slco6c1	UTSW	1	97072961	missense	probably damaging	1.00
R8409:Slco6c1	UTSW	1	97075938	missense	probably damaging	0.99
R8422:Slco6c1	UTSW	1	97125783	missense	probably damaging	1.00
R8824:Slco6c1	UTSW	1	97128159	missense	possibly damaging	0.84
R8905:Slco6c1	UTSW	1	97125666	missense	possibly damaging	0.68
R9183:Slco6c1	UTSW	1	97069050	critical splice acceptor site	probably null
R9300:Slco6c1	UTSW	1	97066084	missense	probably benign	0.37
R9359:Slco6c1	UTSW	1	97062523	missense	possibly damaging	0.94
R9374:Slco6c1	UTSW	1	97128102	missense	probably benign	0.00
R9403:Slco6c1	UTSW	1	97062523	missense	possibly damaging	0.94
R9499:Slco6c1	UTSW	1	97128102	missense	probably benign	0.00
R9551:Slco6c1	UTSW	1	97128102	missense	probably benign	0.00
R9674:Slco6c1	UTSW	1	97119840	missense	probably damaging	1.00

Posted On

2013-11-18