Mutagenetix > Incidental Mutation

Incidental Mutation 'R4004:Slco6c1'

311372

Institutional Source

Beutler Lab

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 #

R4004 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96986763-97056026 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97003610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 496 (Y496H)

Ref Sequence

ENSEMBL: ENSMUSP00000140791 (fasta)

Gene Model

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

AlphaFold

Q8C0X7

Predicted Effect

probably damaging
Transcript: ENSMUST00000027569
AA Change: Y513H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027569
Gene: ENSMUSG00000026331
AA Change: Y513H

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 damaging
Transcript: ENSMUST00000189547
AA Change: Y496H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140791
Gene: ENSMUSG00000026331
AA Change: Y496H

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

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	C	7: 78,750,435 (GRCm39)	E1735D	probably damaging	Het
Ano2	A	G	6: 125,990,242 (GRCm39)	R788G	probably damaging	Het
Atg9a	T	C	1: 75,163,095 (GRCm39)	Y335C	probably damaging	Het
Capn10	T	A	1: 92,868,313 (GRCm39)	L260Q	probably damaging	Het
Cblif	T	G	19: 11,736,371 (GRCm39)	V314G	probably damaging	Het
Ces1d	A	T	8: 93,904,720 (GRCm39)	F340Y	probably benign	Het
Cspg4b	A	G	13: 113,454,914 (GRCm39)	Q320R	probably benign	Het
Ctbp2	C	A	7: 132,593,502 (GRCm39)	R733L	probably benign	Het
Dgkd	T	C	1: 87,863,145 (GRCm39)	I64T	possibly damaging	Het
Dmxl2	T	C	9: 54,353,674 (GRCm39)	I765V	probably benign	Het
Dync2h1	C	A	9: 7,117,404 (GRCm39)	C62F	probably damaging	Het
F2	T	C	2: 91,458,741 (GRCm39)	N523S	possibly damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fcgr1	A	G	3: 96,191,668 (GRCm39)	V380A	probably benign	Het
Herc2	C	A	7: 55,756,213 (GRCm39)	P751Q	possibly damaging	Het
Ikzf3	C	T	11: 98,379,843 (GRCm39)	E142K	probably damaging	Het
Kctd3	A	G	1: 188,724,940 (GRCm39)	S214P	probably benign	Het
Lrpap1	T	A	5: 35,262,888 (GRCm39)	K50*	probably null	Het
Naa11	A	T	5: 97,539,652 (GRCm39)	Y169N	probably benign	Het
Nup42	T	C	5: 24,387,434 (GRCm39)	I408T	probably damaging	Het
Or1af1	A	T	2: 37,109,960 (GRCm39)	H153L	probably benign	Het
Or2t35	C	T	14: 14,408,152 (GRCm38)	A308V	probably benign	Het
Plxnc1	G	A	10: 94,630,459 (GRCm39)	Q1512*	probably null	Het
Ptpn14	A	G	1: 189,582,707 (GRCm39)	N518S	probably benign	Het
Rapgef5	A	G	12: 117,712,132 (GRCm39)	I740V	probably damaging	Het
Ric1	C	T	19: 29,557,201 (GRCm39)	R429C	probably benign	Het
Rpn2	T	C	2: 157,159,928 (GRCm39)	L548P	probably damaging	Het
Ryr3	C	G	2: 112,506,218 (GRCm39)	R3443P	probably damaging	Het
Slc28a1	T	C	7: 80,818,786 (GRCm39)	S580P	probably damaging	Het
Spag5	T	C	11: 78,212,355 (GRCm39)	M1101T	probably benign	Het
Utp11	A	T	4: 124,576,230 (GRCm39)	F138I	probably damaging	Het
Vcp	G	A	4: 42,983,028 (GRCm39)	T606I	probably damaging	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp316	A	G	5: 143,240,874 (GRCm39)	S382P	possibly 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
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
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'- CACTGAGTGACGTTCTTGCATG -3'
(R):5'- GATGGAACTTGTGGATATCTAATGTAC -3'

Sequencing Primer
(F):5'- CTGAGTGACGTTCTTGCATGTAAAAG -3'
(R):5'- ACAGCTGACTGCAATGAG -3'

Posted On

2015-04-29