Mutagenetix > Incidental Mutation

Incidental Mutation 'R7561:Slco6c1'

585088

Institutional Source

Beutler Lab

Gene Symbol

Slco6c1

Ensembl Gene

ENSMUSG00000026331

Gene Name

solute carrier organic anion transporter family, member 6c1

Synonyms

4933404A18Rik

MMRRC Submission

045654-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7561 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96986763-97056026 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 97000691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Tyrosine at position 537 (S537Y)

Ref Sequence

ENSEMBL: ENSMUSP00000027569 (fasta)

Gene Model

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

AlphaFold

Q8C0X7

Predicted Effect

probably damaging
Transcript: ENSMUST00000027569
AA Change: S537Y

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

SMART Domains

Protein: ENSMUSP00000027569
Gene: ENSMUSG00000026331
AA Change: S537Y

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: S520Y

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

SMART Domains

Protein: ENSMUSP00000140791
Gene: ENSMUSG00000026331
AA Change: S520Y

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	A	13: 77,341,314 (GRCm39)	N314K	probably benign	Het
A430005L14Rik	T	A	4: 154,045,097 (GRCm39)	I80N	probably benign	Het
Abca2	A	G	2: 25,336,707 (GRCm39)	H2271R	probably damaging	Het
Acad8	T	C	9: 26,890,538 (GRCm39)	I257V	probably benign	Het
Acot12	A	T	13: 91,918,243 (GRCm39)	T179S	probably damaging	Het
Adcy10	A	G	1: 165,386,741 (GRCm39)	R1155G	possibly damaging	Het
Adcy9	C	T	16: 4,236,028 (GRCm39)	C461Y	probably damaging	Het
Adgrf1	G	A	17: 43,622,000 (GRCm39)	V746I	possibly damaging	Het
Agbl1	C	A	7: 76,348,509 (GRCm39)	Q869K	unknown	Het
AI837181	T	G	19: 5,476,491 (GRCm39)	V218G	probably damaging	Het
Alg9	T	C	9: 50,754,074 (GRCm39)	S585P	possibly damaging	Het
Arhgef38	T	C	3: 132,866,489 (GRCm39)	Q216R		Het
Asb4	A	T	6: 5,430,968 (GRCm39)	H401L	possibly damaging	Het
Atg7	G	T	6: 114,650,002 (GRCm39)	A60S	possibly damaging	Het
Atp10a	T	A	7: 58,476,881 (GRCm39)	C1199S	probably damaging	Het
Blm	G	A	7: 80,152,276 (GRCm39)	A557V	probably damaging	Het
Cbln1	A	T	8: 88,198,624 (GRCm39)	M82K	probably benign	Het
Ccdc183	T	G	2: 25,501,529 (GRCm39)	I293L	probably benign	Het
Col6a3	A	G	1: 90,703,463 (GRCm39)	S3035P	unknown	Het
Cux2	A	T	5: 122,017,931 (GRCm39)	S206T	probably benign	Het
Cyfip2	T	C	11: 46,161,425 (GRCm39)	D355G	probably benign	Het
Dhrs2	A	G	14: 55,474,698 (GRCm39)	H111R	probably benign	Het
Eif3b	T	G	5: 140,428,109 (GRCm39)	D781E	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fermt1	A	T	2: 132,758,008 (GRCm39)	I469N	probably benign	Het
Fgf20	G	T	8: 40,732,975 (GRCm39)	N154K	possibly damaging	Het
Fndc10	T	A	4: 155,779,328 (GRCm39)	V124E	probably damaging	Het
Fra10ac1	T	C	19: 38,210,324 (GRCm39)	D13G	probably damaging	Het
Gpatch1	A	G	7: 35,008,800 (GRCm39)	S74P	probably damaging	Het
Gramd1b	G	A	9: 40,312,911 (GRCm39)	T19I	unknown	Het
Grm8	T	C	6: 27,429,524 (GRCm39)	T457A	probably benign	Het
Gucy2g	C	A	19: 55,194,772 (GRCm39)	V882L	probably benign	Het
Hectd4	G	A	5: 121,429,288 (GRCm39)	R811H	possibly damaging	Het
Hk1	C	T	10: 62,116,807 (GRCm39)		probably null	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Il10ra	T	A	9: 45,167,117 (GRCm39)	D480V	probably benign	Het
Il18rap	A	T	1: 40,563,537 (GRCm39)	H22L	probably benign	Het
Inpp5a	T	A	7: 139,147,338 (GRCm39)	I321N	probably damaging	Het
Insyn1	A	G	9: 58,406,687 (GRCm39)	D199G	probably damaging	Het
Kat2b	T	G	17: 53,948,286 (GRCm39)	L352R	probably benign	Het
Katnip	C	T	7: 125,441,894 (GRCm39)	S627L	probably benign	Het
Kcna1	A	T	6: 126,619,108 (GRCm39)	V404E	probably damaging	Het
Mcm3ap	T	A	10: 76,328,712 (GRCm39)	V1110E	possibly damaging	Het
Moxd2	C	T	6: 40,864,337 (GRCm39)	R31H	probably damaging	Het
Mpdz	A	T	4: 81,225,388 (GRCm39)	N1368K	probably damaging	Het
Mpzl3	G	T	9: 44,966,610 (GRCm39)	V24F	probably benign	Het
Mybph	G	A	1: 134,121,465 (GRCm39)		probably null	Het
Ncam1	G	T	9: 49,476,242 (GRCm39)	D282E	probably damaging	Het
Ntrk2	G	A	13: 59,009,202 (GRCm39)	C331Y	probably benign	Het
Nwd2	T	A	5: 63,964,434 (GRCm39)	C1339*	probably null	Het
Or3a1d	T	C	11: 74,238,436 (GRCm39)		probably benign	Het
Or5b98	T	C	19: 12,931,403 (GRCm39)	V150A	probably benign	Het
Or8k33	T	C	2: 86,383,661 (GRCm39)	D269G	probably benign	Het
Osbpl6	C	A	2: 76,416,498 (GRCm39)	T672N	probably damaging	Het
Pds5b	T	C	5: 150,662,783 (GRCm39)		probably null	Het
Perm1	A	G	4: 156,303,217 (GRCm39)	N587S	probably benign	Het
Pex7	A	T	10: 19,770,012 (GRCm39)	C165*	probably null	Het
Pik3r4	A	G	9: 105,564,446 (GRCm39)	T1347A	possibly damaging	Het
Pitpnm3	T	C	11: 71,942,008 (GRCm39)	D933G	probably benign	Het
Rnf213	T	A	11: 119,332,545 (GRCm39)	F2586I		Het
Scn10a	A	G	9: 119,523,390 (GRCm39)	M1T	probably null	Het
Sdhaf3	T	A	6: 6,956,079 (GRCm39)	L18Q	not run	Het
Septin7	A	G	9: 25,209,151 (GRCm39)	E256G	possibly damaging	Het
Slc35b2	A	G	17: 45,877,727 (GRCm39)	T236A	probably damaging	Het
Slc4a4	G	A	5: 89,347,556 (GRCm39)	G766R	probably damaging	Het
Srp68	T	C	11: 116,139,593 (GRCm39)	E452G	probably damaging	Het
Taf2	A	T	15: 54,919,229 (GRCm39)	M382K	probably benign	Het
Tas2r131	A	G	6: 132,933,921 (GRCm39)	L296P	probably benign	Het
Tlr9	A	G	9: 106,103,148 (GRCm39)	E813G	probably benign	Het
Trmt44	T	C	5: 35,715,336 (GRCm39)	E659G	possibly damaging	Het
Ttc21b	G	A	2: 66,047,548 (GRCm39)	A849V	possibly damaging	Het
Unc45a	G	T	7: 79,981,334 (GRCm39)	S489R	possibly damaging	Het
Xrn1	T	C	9: 95,881,511 (GRCm39)	V795A	probably benign	Het
Zbtb22	A	T	17: 34,136,952 (GRCm39)	T366S	probably benign	Het
Zcchc10	T	A	11: 53,215,545 (GRCm39)	H6Q	probably benign	Het
Zfp60	A	G	7: 27,447,955 (GRCm39)	K208E	probably damaging	Het
Zfp780b	A	T	7: 27,664,037 (GRCm39)	C173S	possibly damaging	Het
Zfp786	C	A	6: 47,796,667 (GRCm39)	R757L	probably benign	Het
Zfp936	G	A	7: 42,839,339 (GRCm39)	A269T	probably damaging	Het
Zfp976	T	C	7: 42,265,701 (GRCm39)	Y29C	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
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
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'- GTTCCTTAATCGTGTGTAGATACCTAC -3'
(R):5'- TAGGGACACATAGAAGGCTTTG -3'

Sequencing Primer
(F):5'- AGTGAGACTAACTGTAGCATCTATAC -3'
(R):5'- GGGGAAAAGACATGATTACATATCAC -3'

Posted On

2019-10-17