Mutagenetix > Incidental Mutation

Incidental Mutation 'R8824:Slco6c1'

673302

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8824 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97059038-97128301 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97128159 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 6 (N6Y)

Ref Sequence

ENSEMBL: ENSMUSP00000027569 (fasta)

Gene Model

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

AlphaFold

Q8C0X7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027569
AA Change: N6Y

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027569
Gene: ENSMUSG00000026331
AA Change: N6Y

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

possibly damaging
Transcript: ENSMUST00000189547
AA Change: N6Y

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140791
Gene: ENSMUSG00000026331
AA Change: N6Y

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

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,862,850	V260D	probably damaging	Het
Adora2a	G	A	10: 75,326,179	A51T	probably damaging	Het
Afg1l	G	A	10: 42,438,387	P128S	possibly damaging	Het
Ago4	C	A	4: 126,507,184	V623L	probably benign	Het
Akap11	A	T	14: 78,516,347	N112K		Het
C1ra	A	T	6: 124,517,695	I306F	probably damaging	Het
Ccdc73	A	G	2: 104,991,877	N724D	possibly damaging	Het
Cd248	A	G	19: 5,069,617	I498V	probably benign	Het
Clrn1	A	T	3: 58,884,893	S50T	probably benign	Het
Col7a1	A	G	9: 108,967,025	K1553R	unknown	Het
Cxcr6	A	C	9: 123,810,941	T343P	probably benign	Het
Cyp11b2	T	A	15: 74,856,065	Q56L	probably damaging	Het
Dip2a	A	G	10: 76,278,486		probably null	Het
Dnmbp	A	G	19: 43,849,837	V742A	probably benign	Het
Dusp16	A	T	6: 134,739,769	S192T	probably benign	Het
Ehbp1	A	T	11: 22,232,053	D87E	probably damaging	Het
Fgl1	A	G	8: 41,199,711	V150A	probably benign	Het
Flt3	T	C	5: 147,334,863	D873G	probably damaging	Het
Gart	T	C	16: 91,630,703	D469G	possibly damaging	Het
Gm28168	T	G	1: 117,947,895	S85A	probably benign	Het
Golgb1	A	G	16: 36,915,689	D1807G	probably benign	Het
Grm8	A	G	6: 27,761,352	L291S	probably damaging	Het
Gucy2d	C	T	7: 98,443,469	P18S	possibly damaging	Het
Ifna15	C	T	4: 88,557,761	C162Y	probably damaging	Het
Iqub	C	A	6: 24,479,308	E412*	probably null	Het
Krt4	T	A	15: 101,920,642	D312V		Het
Krtap26-1	A	T	16: 88,647,415	I106N	probably damaging	Het
Krtap26-1	T	C	16: 88,647,436	Y99C	probably damaging	Het
Lipn	T	C	19: 34,084,716	I357T	probably benign	Het
Lrrc14b	A	G	13: 74,363,949	L4P	probably damaging	Het
Mrgpra9	A	T	7: 47,235,293	C209S	probably benign	Het
Myh7b	A	G	2: 155,630,381	N1291D	probably benign	Het
Myo5a	A	G	9: 75,167,046	T746A	probably damaging	Het
Myom2	A	C	8: 15,114,169	E1021D	possibly damaging	Het
Ncoa2	C	T	1: 13,177,185	R338H	probably benign	Het
Ncor2	A	G	5: 125,118,757	F91L		Het
Neb	C	G	2: 52,216,911	A4407P	probably damaging	Het
Olfr1135	T	C	2: 87,671,960	M136V	possibly damaging	Het
Olfr1272	A	G	2: 90,296,012	I283T	probably damaging	Het
Olfr347	A	T	2: 36,735,191	Y290F	probably damaging	Het
Olfr502	T	G	7: 108,523,143	Y269S	probably benign	Het
Olfr74	A	G	2: 87,974,003	F221L	probably benign	Het
Olfr819	C	T	10: 129,965,792	V297M	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451		probably benign	Het
Piwil4	C	A	9: 14,727,475	K298N	probably benign	Het
Prkcz	G	A	4: 155,344,828		probably benign	Het
Prkg2	G	A	5: 98,942,208	P691L	possibly damaging	Het
Ptprc	T	A	1: 138,113,708	K89*	probably null	Het
Rapgef3	C	T	15: 97,766,908	A25T	probably benign	Het
Rreb1	C	T	13: 37,930,516	T617I	probably damaging	Het
Rsph1	A	C	17: 31,273,376	V72G	possibly damaging	Het
Shc2	A	G	10: 79,637,702	V50A	probably benign	Het
Slc38a9	G	A	13: 112,701,487	R262H	probably benign	Het
Smarca5	A	G	8: 80,705,332	F886L	probably benign	Het
Tas1r2	A	G	4: 139,653,763		probably benign	Het
Tnrc6c	T	A	11: 117,739,854		probably benign	Het
Trim30b	T	A	7: 104,357,906		probably benign	Het
Trim55	T	C	3: 19,672,962	S398P	probably benign	Het
Ttc39c	T	A	18: 12,686,946		probably benign	Het
Ubxn10	A	G	4: 138,735,867		probably null	Het
Usf3	A	G	16: 44,215,613	N152S	probably benign	Het
Vps13b	T	A	15: 35,533,299	V839E	probably damaging	Het
Zeb1	T	A	18: 5,748,680		probably benign	Het
Zfp780b	T	C	7: 27,963,468	Y554C	probably benign	Het
Zhx2	C	T	15: 57,821,280	T15I	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
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
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'- CCTTGGAAGCACTGTATCTTGG -3'
(R):5'- ACTTGGAACTTCTGCCGCATC -3'

Sequencing Primer
(F):5'- GGATCTATTAACAACAGTTCGGCAC -3'
(R):5'- TGCCGCATCATTCTGTAGGGAC -3'

Posted On

2021-07-15