Mutagenetix > Incidental Mutation

Incidental Mutation 'R0674:Slco6c1'

218567

Institutional Source

Beutler Lab

Gene Symbol

Slco6c1

Ensembl Gene

ENSMUSG00000026331

Gene Name

solute carrier organic anion transporter family, member 6c1

Synonyms

4933404A18Rik

MMRRC Submission

038859-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0674 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

97059038-97128301 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 97104773 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140791 (fasta)

Gene Model

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

AlphaFold

Q8C0X7

Predicted Effect

probably benign
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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.3%
20x: 90.4%

Validation Efficiency

97% (124/128)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 37,044,626	V1134E	possibly damaging	Het
Adar	A	G	3: 89,749,823		probably benign	Het
Adgrl2	A	T	3: 148,837,679	M803K	possibly damaging	Het
Atp13a5	T	C	16: 29,248,350		probably benign	Het
Atp2a3	T	C	11: 72,981,885	I753T	probably damaging	Het
Bace2	G	A	16: 97,436,749	V467M	possibly damaging	Het
Ccser2	A	G	14: 36,918,591	C11R	possibly damaging	Het
Cd2ap	T	A	17: 42,845,392	I85F	possibly damaging	Het
Cd2bp2	C	T	7: 127,194,836	E94K	probably damaging	Het
Chrna3	C	A	9: 55,015,172	A451S	probably damaging	Het
Cmya5	C	A	13: 93,092,791	V1930F	probably damaging	Het
Csmd1	T	C	8: 16,000,550	T2229A	probably benign	Het
Csrnp2	A	T	15: 100,487,991	L122H	probably damaging	Het
Cyp11b2	G	A	15: 74,855,544	P96L	probably damaging	Het
Ddr1	G	T	17: 35,689,669	S368*	probably null	Het
E2f1	T	C	2: 154,564,109	K115E	probably damaging	Het
Erlec1	A	T	11: 30,935,073		probably benign	Het
Fus	T	A	7: 127,972,776		probably benign	Het
Gml	G	A	15: 74,813,860	T92I	probably damaging	Het
Herc1	T	C	9: 66,501,192	S4567P	probably damaging	Het
Iglc2	A	G	16: 19,198,841	S5P	probably benign	Het
Itgam	T	C	7: 128,116,218	V1028A	possibly damaging	Het
Krt222	T	A	11: 99,236,260	N178I	probably benign	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Luzp1	C	T	4: 136,543,457	T997I	possibly damaging	Het
Maml1	G	T	11: 50,258,058	Q952K	probably benign	Het
Map2	A	G	1: 66,413,202	E499G	probably damaging	Het
Map4k4	A	T	1: 40,003,815	H118L	probably damaging	Het
Myzap	T	C	9: 71,515,144	D382G	probably damaging	Het
Naip5	T	C	13: 100,223,199	T510A	probably benign	Het
Nek6	G	C	2: 38,558,904	G95R	possibly damaging	Het
Nphp3	T	C	9: 104,036,282		probably null	Het
Nr1d2	T	C	14: 18,215,086	S309G	probably benign	Het
Nrcam	A	T	12: 44,564,322	I570F	probably benign	Het
Oas1d	T	C	5: 120,919,986	I331T	probably benign	Het
Olfr1306	A	T	2: 111,912,673	F86I	probably benign	Het
Olfr65	T	C	7: 103,907,255	V272A	probably benign	Het
Olfr92	G	C	17: 37,111,455	L176V	probably benign	Het
Pex5l	A	T	3: 32,952,616	W535R	probably damaging	Het
Pisd	C	T	5: 32,774,437	R202H	probably benign	Het
Plxna2	A	G	1: 194,649,475	N403S	probably benign	Het
Prdm12	A	G	2: 31,643,912	I180M	probably benign	Het
Prpf6	A	G	2: 181,631,974	T304A	probably benign	Het
Ptprm	G	A	17: 67,191,341	T35I	possibly damaging	Het
Ptx3	T	A	3: 66,224,727	I223N	probably damaging	Het
Pygb	G	A	2: 150,815,134		probably null	Het
Qrsl1	A	G	10: 43,896,001		probably benign	Het
Rad51ap2	T	C	12: 11,458,817		probably null	Het
Ralbp1	C	T	17: 65,852,753	R505H	probably benign	Het
Rimbp3	T	C	16: 17,212,737	S1342P	probably benign	Het
Slc22a14	C	A	9: 119,178,542	R267L	probably damaging	Het
Tcp1	T	C	17: 12,923,244	I375T	probably damaging	Het
Tiparp	T	C	3: 65,553,165	I525T	probably benign	Het
Tjp2	A	G	19: 24,131,316	L144P	probably benign	Het
Tssk2	A	G	16: 17,899,066	D111G	probably benign	Het
Ttn	T	C	2: 76,945,479	T1740A	possibly damaging	Het
Vmn2r102	T	A	17: 19,677,867	D381E	probably benign	Het
Vsig10	C	T	5: 117,343,846	T367M	probably damaging	Het
Wnt11	T	C	7: 98,846,528	C80R	probably damaging	Het
Zar1	T	A	5: 72,580,300		probably null	Het
Zfp52	A	T	17: 21,561,846	H652L	probably damaging	Het
Zpr1	T	A	9: 46,275,449	L194Q	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
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

Predicted Primers

PCR Primer
(F):5'- TGTTACAGAGCAAAACCAGTAGGAAAGC -3'
(R):5'- AGACATTGTCATTCAGAGTGGGCAC -3'

Sequencing Primer
(F):5'- cccccatacccacctacc -3'
(R):5'- aagaagttagactccagagaacc -3'

Posted On

2014-08-18