Mutagenetix > Incidental Mutation

Incidental Mutation 'R1901:Slco6c1'

212174

Institutional Source

Beutler Lab

Gene Symbol

Slco6c1

Ensembl Gene

ENSMUSG00000026331

Gene Name

solute carrier organic anion transporter family, member 6c1

Synonyms

4933404A18Rik

MMRRC Submission

039921-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1901 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97059038-97128301 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97072982 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 515 (T515S)

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: T532S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027569
Gene: ENSMUSG00000026331
AA Change: T532S

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: T515S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140791
Gene: ENSMUSG00000026331
AA Change: T515S

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: 97.3%
3x: 96.8%
10x: 95.2%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 120,346,099	E466G	probably damaging	Het
Acacb	A	T	5: 114,165,734	R73*	probably null	Het
Acta1	A	T	8: 123,893,161	S147T	probably benign	Het
Adh1	G	A	3: 138,288,797	V293I	probably benign	Het
Aldh3b3	T	C	19: 3,965,130	Y170H	probably damaging	Het
Ank3	A	T	10: 69,822,337	T198S	probably damaging	Het
Ankrd12	A	T	17: 65,986,703	N578K	possibly damaging	Het
Ano2	A	T	6: 125,872,684	E126D	probably damaging	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Arhgef7	C	A	8: 11,808,713		probably null	Het
Cfap44	A	C	16: 44,422,374	T714P	probably benign	Het
Cnot1	T	C	8: 95,743,121	I1369V	possibly damaging	Het
Col19a1	A	T	1: 24,536,997	I88K	unknown	Het
Col1a1	G	A	11: 94,946,632		probably null	Het
Col5a1	A	G	2: 27,960,444	T518A	unknown	Het
Cul7	T	C	17: 46,655,740	L365P	probably damaging	Het
Dlec1	T	C	9: 119,102,644	S44P	probably damaging	Het
Dock9	T	C	14: 121,625,153		probably null	Het
Flrt2	C	A	12: 95,779,130	P81T	probably damaging	Het
Flrt2	C	T	12: 95,779,131	P81L	probably damaging	Het
Ginm1	A	G	10: 7,775,216		probably null	Het
Glis3	T	C	19: 28,531,585	N333S	probably damaging	Het
Glo1	T	G	17: 30,596,408	E144D	probably benign	Het
Golga1	A	T	2: 39,047,780		probably null	Het
H2-Aa	A	G	17: 34,283,233	I155T	possibly damaging	Het
Haus5	A	G	7: 30,657,245	S479P	probably damaging	Het
Il10ra	A	T	9: 45,256,356	V299D	probably benign	Het
Il17re	T	C	6: 113,469,704	V472A	probably damaging	Het
Il22ra1	A	T	4: 135,750,908	Q430L	probably damaging	Het
Il23r	A	C	6: 67,423,734	D537E	probably benign	Het
Inppl1	T	C	7: 101,823,377	E1237G	possibly damaging	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Klhl35	T	C	7: 99,470,220	L304P	probably damaging	Het
Krt78	A	T	15: 101,946,963	C804*	probably null	Het
Lrrc29	T	C	8: 105,313,075	N556S	probably damaging	Het
Med15	G	T	16: 17,673,154		probably benign	Het
Mettl25	A	G	10: 105,826,087	S341P	probably damaging	Het
Mroh1	A	G	15: 76,436,049	T1008A	probably benign	Het
Mug1	A	G	6: 121,881,821	D1166G	probably benign	Het
Mug2	C	A	6: 122,071,842	H856N	probably benign	Het
Naca	T	A	10: 128,043,721		probably benign	Het
Nagk	G	T	6: 83,799,354	V184F	probably damaging	Het
Nav1	T	G	1: 135,472,410	N474T	probably benign	Het
Ncor2	T	A	5: 125,025,425	H2089L	probably benign	Het
Nek6	A	G	2: 38,582,446	I261V	probably damaging	Het
Neurod2	G	A	11: 98,327,732	T202M	probably damaging	Het
Nlgn2	A	G	11: 69,825,900	V605A	probably damaging	Het
Nlrp5	A	C	7: 23,423,910	E732A	possibly damaging	Het
Nt5dc1	A	T	10: 34,313,671	V340D	probably damaging	Het
Ntn4	A	G	10: 93,707,372	D320G	possibly damaging	Het
Olfr119	T	A	17: 37,701,421	H250Q	probably damaging	Het
Olfr209	A	T	16: 59,362,163	D18E	probably benign	Het
Olfr417	A	T	1: 174,369,168	I84L	probably benign	Het
Olfr625-ps1	T	C	7: 103,683,543	I265T	probably damaging	Het
Olfr685	A	G	7: 105,180,872	I162T	possibly damaging	Het
Osbpl5	T	C	7: 143,703,181	D404G	possibly damaging	Het
Pcdhb12	T	A	18: 37,437,630	W610R	possibly damaging	Het
Pias2	T	A	18: 77,097,443	C66*	probably null	Het
Plec	T	A	15: 76,175,551	E3417D	probably damaging	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,937,781		probably benign	Het
Ppp1r12a	T	A	10: 108,198,891	I99N	probably damaging	Het
Prpf8	T	G	11: 75,504,744	V1899G	probably damaging	Het
Prr13	C	A	15: 102,460,698		probably benign	Het
Ptchd4	A	T	17: 42,503,616	I803L	probably benign	Het
R3hdm2	T	C	10: 127,498,468	I947T	possibly damaging	Het
Raet1d	A	G	10: 22,371,451	D142G	probably damaging	Het
Rbbp8nl	C	T	2: 180,283,313	R33Q	probably damaging	Het
Robo1	A	G	16: 72,960,204	Q351R	probably null	Het
Rptn	A	T	3: 93,396,710	H450L	possibly damaging	Het
Scn11a	T	A	9: 119,779,036	K1010*	probably null	Het
Slc16a10	G	A	10: 40,056,606	Q33*	probably null	Het
Slc31a1	C	T	4: 62,385,605		probably benign	Het
Slc34a1	A	T	13: 55,401,150	K138*	probably null	Het
Slc6a18	T	A	13: 73,670,043	E285V	probably benign	Het
Snrnp40	T	A	4: 130,385,975	S295T	probably damaging	Het
Snx4	A	T	16: 33,284,438	Y252F	possibly damaging	Het
Spata18	T	A	5: 73,671,139	F348I	probably damaging	Het
Spef2	G	T	15: 9,607,377	R1319S	probably damaging	Het
Tas2r125	T	C	6: 132,910,176	F176L	probably benign	Het
Tcp10b	A	G	17: 13,081,626	K399E	possibly damaging	Het
Tcstv3	A	G	13: 120,317,724	H53R	probably damaging	Het
Tnrc6c	A	G	11: 117,723,005	K823R	probably damaging	Het
Trim31	A	G	17: 36,901,800	E221G	probably benign	Het
Trim47	T	A	11: 116,107,779	Q338L	probably damaging	Het
Tubgcp6	C	A	15: 89,116,241	R307L	possibly damaging	Het
Usp9y	A	G	Y: 1,303,371		probably null	Het
Utp20	G	T	10: 88,753,026	T2427K	probably benign	Het
Vldlr	T	C	19: 27,241,309	V147A	probably damaging	Het
Vmn1r115	C	T	7: 20,844,273	R238H	probably benign	Het
Vmn1r175	C	A	7: 23,808,793	R136S	probably benign	Het
Vmn1r53	A	G	6: 90,224,286	S19P	possibly damaging	Het
Vwa5b2	G	T	16: 20,604,832	S1165I	possibly damaging	Het
Zfp362	G	T	4: 128,790,276	P13T	probably damaging	Het
Zfp825	A	G	13: 74,480,945	C151R	probably damaging	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
IGL01483:Slco6c1	APN	1	97128107	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CTTACTGGAGGATAATTGAGATGACAG -3'
(R):5'- GCCTTCTTAAAGAAATGCTGAAACAGC -3'

Sequencing Primer
(F):5'- CTTAAGACAGTCGCTGTC -3'
(R):5'- GGGATTTCTCCATGAAGAGCACATC -3'

Posted On

2014-06-30