Mutagenetix > Incidental Mutation

Incidental Mutation 'R1366:Slco6c1'

156021

Institutional Source

Beutler Lab

Gene Symbol

Slco6c1

Ensembl Gene

ENSMUSG00000026331

Gene Name

solute carrier organic anion transporter family, member 6c1

Synonyms

4933404A18Rik

MMRRC Submission

039431-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1366 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96986763-97056026 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

T to A at 97055928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027569 (fasta)

Gene Model

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

AlphaFold

Q8C0X7

Predicted Effect

probably null
Transcript: ENSMUST00000027569

SMART Domains

Protein: ENSMUSP00000027569
Gene: ENSMUSG00000026331

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

SMART Domains

Protein: ENSMUSP00000140791
Gene: ENSMUSG00000026331

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.6%
3x: 97.1%
10x: 92.3%
20x: 80.8%

Validation Efficiency

93% (43/46)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 77,036,651 (GRCm39)	S297T	probably benign	Het
Acsm1	T	C	7: 119,257,511 (GRCm39)		probably benign	Het
Ankar	T	A	1: 72,737,808 (GRCm39)	N125Y	probably damaging	Het
Ccdc121	T	A	5: 31,644,861 (GRCm39)	C205S	probably benign	Het
Chd1l	T	C	3: 97,488,465 (GRCm39)	D517G	probably damaging	Het
Cir1	A	T	2: 73,136,757 (GRCm39)		probably benign	Het
Cpxm1	G	A	2: 130,238,042 (GRCm39)	R136W	probably damaging	Het
Dnah10	A	T	5: 124,830,390 (GRCm39)	E761D	probably benign	Het
Fam186a	T	A	15: 99,841,270 (GRCm39)	E1658V	possibly damaging	Het
Fam98a	A	G	17: 75,846,381 (GRCm39)		probably benign	Het
Fanca	G	A	8: 124,031,020 (GRCm39)		probably benign	Het
Frmd6	T	C	12: 70,934,663 (GRCm39)		probably benign	Het
Gmpr2	T	C	14: 55,914,200 (GRCm39)		probably benign	Het
Hck	G	A	2: 152,980,215 (GRCm39)	G348D	probably damaging	Het
Ifnab	T	A	4: 88,609,337 (GRCm39)	Q43L	possibly damaging	Het
Ilkap	A	G	1: 91,314,937 (GRCm39)	I142T	possibly damaging	Het
Lamc3	T	C	2: 31,818,859 (GRCm39)	S1206P	probably damaging	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mid1	A	C	X: 168,769,090 (GRCm39)	N215H	probably damaging	Het
Mkrn1	T	C	6: 39,382,851 (GRCm39)	T134A	probably benign	Het
Mmp9	T	A	2: 164,795,262 (GRCm39)	V628E	probably damaging	Het
Msi2	A	T	11: 88,607,406 (GRCm39)	V67D	probably damaging	Het
Ncapd3	T	A	9: 26,969,236 (GRCm39)	V630E	probably damaging	Het
Nkain1	A	G	4: 130,537,316 (GRCm38)	V73A	probably damaging	Het
Nphp4	T	A	4: 152,587,383 (GRCm39)	D245E	probably damaging	Het
Or14j3	T	C	17: 37,900,655 (GRCm39)	I196M	probably benign	Het
Or7a41	T	G	10: 78,870,876 (GRCm39)	M82R	probably damaging	Het
Or9g8	G	A	2: 85,607,348 (GRCm39)	C140Y	probably benign	Het
Pkd1l1	T	C	11: 8,891,038 (GRCm39)		probably benign	Het
Plcxd1	A	C	5: 110,250,096 (GRCm39)	I184L	probably damaging	Het
Prl3b1	G	A	13: 27,427,848 (GRCm39)	A53T	probably benign	Het
Rasl10b	G	A	11: 83,308,665 (GRCm39)		probably null	Het
Scube2	A	G	7: 109,403,821 (GRCm39)	Y890H	probably damaging	Het
Tnfaip2	T	G	12: 111,415,756 (GRCm39)	F485V	probably benign	Het
Tpd52	T	C	3: 9,028,993 (GRCm39)	D17G	probably damaging	Het
Ube4b	T	C	4: 149,419,606 (GRCm39)	D1034G	probably damaging	Het
Vmn2r118	G	A	17: 55,900,237 (GRCm39)	Q556*	probably null	Het
Zftraf1	T	C	15: 76,533,169 (GRCm39)	R190G	probably damaging	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
IGL01483:Slco6c1	APN	1	97,055,832 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CCCTCCTTGGAAGCACTGTATCTTG -3'
(R):5'- AGACTTGGAACTTCTGCCGCATC -3'

Sequencing Primer
(F):5'- CAACAGTTCGGCACTTGTAG -3'
(R):5'- GAACTTCTGCCGCATCATTCTG -3'

Posted On

2014-02-11