Mutagenetix > Incidental Mutations

Incidental Mutation 'R8422:Slco6c1'

653232

Institutional Source

Beutler Lab

Gene Symbol

Slco6c1

Ensembl Gene

ENSMUSG00000026331

Gene Name

solute carrier organic anion transporter family, member 6c1

Synonyms

4933404A18Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8422 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97059038-97128301 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97125783 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 131 (E131G)

Ref Sequence

ENSEMBL: ENSMUSP00000027569 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000027569
AA Change: E131G

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

SMART Domains

Protein: ENSMUSP00000027569
Gene: ENSMUSG00000026331
AA Change: E131G

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: E131G

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

SMART Domains

Protein: ENSMUSP00000140791
Gene: ENSMUSG00000026331
AA Change: E131G

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,662,297	S570R	possibly damaging	Het
4921517D22Rik	T	C	13: 59,691,629	M1V	probably null	Het
4921524J17Rik	T	G	8: 85,412,289	K57T	possibly damaging	Het
4930596D02Rik	G	T	14: 35,810,052	Q189K	probably benign	Het
Anapc1	T	C	2: 128,675,837	T296A	probably benign	Het
Aqp7	T	A	4: 41,035,622	M78L	probably benign	Het
C1qtnf5	C	A	9: 44,108,664	A195E	possibly damaging	Het
Calhm2	T	C	19: 47,133,140	I197V	probably benign	Het
Ccdc186	G	A	19: 56,813,185	L167F	probably benign	Het
Ccr3	T	C	9: 124,028,762	Y45H	probably damaging	Het
Cct3	G	C	3: 88,300,819	R38P	probably damaging	Het
Clstn2	T	C	9: 97,458,186	D711G	probably benign	Het
Dab2ip	T	A	2: 35,707,755	I157N	probably damaging	Het
Dchs2	T	C	3: 83,325,263	V2185A	probably benign	Het
Dis3l2	A	G	1: 86,854,377	T219A	probably benign	Het
F2rl3	G	T	8: 72,763,185	V347L	probably benign	Het
Fastkd1	A	G	2: 69,702,434	S530P	probably damaging	Het
Fgfr3	T	A	5: 33,734,905	Y689*	probably null	Het
Gm10521	A	G	1: 171,896,459	I112M	unknown	Het
Gm9736	C	A	10: 77,750,880	V159F	unknown	Het
Hba-x	A	T	11: 32,277,736	H88L	probably benign	Het
Il12rb2	A	T	6: 67,360,816	V27E	probably benign	Het
Imp4	G	T	1: 34,443,916	G196V	probably damaging	Het
Itga11	A	C	9: 62,767,678	I831L	probably benign	Het
Macf1	C	T	4: 123,409,486	V408I	possibly damaging	Het
Nedd4	T	A	9: 72,742,682	D771E	probably damaging	Het
Noc3l	T	C	19: 38,807,103	Y413C	probably benign	Het
Npas3	C	A	12: 54,068,509	T738K	probably benign	Het
Ntrk2	A	T	13: 58,985,901	D498V	probably damaging	Het
Nyap1	T	C	5: 137,735,821	T317A	probably benign	Het
Olfr1212	T	C	2: 88,958,997	M177T	probably benign	Het
Olfr294	T	A	7: 86,616,258	H129L	probably benign	Het
Olfr74	T	A	2: 87,973,799	I289L	probably benign	Het
Olfr978	T	C	9: 39,994,554	L248P	probably damaging	Het
Pcdhb20	A	T	18: 37,504,796	D125V	probably damaging	Het
Phc3	G	A	3: 30,929,890	Q692*	probably null	Het
Plat	G	T	8: 22,772,232	G91W	probably damaging	Het
Ppp1r12a	T	A	10: 108,241,181	H339Q	probably benign	Het
Ppp1r3a	G	A	6: 14,718,435	Q827*	probably null	Het
Ptpra	T	A	2: 130,532,171	I265N	possibly damaging	Het
Rabggta	G	T	14: 55,718,458	H447Q	probably benign	Het
Ralgps1	T	C	2: 33,172,430	D277G	possibly damaging	Het
Riok3	A	T	18: 12,136,812	E100V	probably null	Het
Rtcb	C	T	10: 85,943,304	V362M	probably benign	Het
Scd2	G	T	19: 44,301,304	C246F	probably benign	Het
Tanc2	A	G	11: 105,835,188	M393V	probably benign	Het
Tas2r136	A	T	6: 132,777,327	I279N	probably damaging	Het
Tbx3	G	T	5: 119,680,516	K405N	possibly damaging	Het
Thumpd2	A	T	17: 81,026,944	V405D	probably damaging	Het
Tlr12	A	G	4: 128,616,634	S608P	probably damaging	Het
Wfs1	T	C	5: 36,973,875	K165E	probably benign	Het
Zfp810	C	A	9: 22,283,222	E57*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- AACAGTATCTCACCTATGCTTTGTC -3'
(R):5'- GAGGGTTCAAATGTAGTTGATCTC -3'

Sequencing Primer
(F):5'- ACCTATGCTTTGTCTTCCCGG -3'
(R):5'- CTCTATGACTACTAATACAGGTACT -3'

Posted On

2020-10-20