Mutagenetix > Incidental Mutation

Incidental Mutation 'R4865:Slco4c1'

374801

Institutional Source

Beutler Lab

Gene Symbol

Slco4c1

Ensembl Gene

ENSMUSG00000040693

Gene Name

solute carrier organic anion transporter family, member 4C1

Synonyms

C330017E21Rik, SLC21A20, PRO2176, OATP4C1, OATP-M1, OATP-H

MMRRC Submission

042475-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.332) question?

Stock #

R4865 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96744918-96800027 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 96768953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 303 (P303L)

Ref Sequence

ENSEMBL: ENSMUSP00000071875 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071985]

AlphaFold

Q8BGD4

Predicted Effect

probably damaging
Transcript: ENSMUST00000071985
AA Change: P303L

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

SMART Domains

Protein: ENSMUSP00000071875
Gene: ENSMUSG00000040693
AA Change: P303L

Domain	Start	End	E-Value	Type
low complexity region	55	72	N/A	INTRINSIC
Pfam:MFS_1	102	483	1.3e-19	PFAM
KAZAL	503	547	1.67e-1	SMART
transmembrane domain	666	688	N/A	INTRINSIC

Meta Mutation Damage Score

0.1725

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

98% (86/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLCO4C1 belongs to the organic anion transporter (OATP) family. OATPs are involved in the membrane transport of bile acids, conjugated steroids, thyroid hormone, eicosanoids, peptides, and numerous drugs in many tissues (Mikkaichi et al., 2004 [PubMed 14993604]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	C	T	18: 61,938,157 (GRCm39)	V639M	probably damaging	Het
Adgrf4	A	G	17: 42,978,156 (GRCm39)	S396P	probably damaging	Het
Aldh3b2	T	A	19: 4,028,469 (GRCm39)	I123N	probably damaging	Het
Aldh5a1	A	G	13: 25,095,567 (GRCm39)	Y517H	probably damaging	Het
Aph1c	A	C	9: 66,735,120 (GRCm39)	I77S	probably damaging	Het
Armc8	A	G	9: 99,408,942 (GRCm39)		probably null	Het
Atp13a5	G	A	16: 29,066,912 (GRCm39)	P1020L	probably damaging	Het
BC024139	A	T	15: 76,010,266 (GRCm39)	M80K	possibly damaging	Het
Cdk5rap1	C	T	2: 154,212,876 (GRCm39)		probably null	Het
Cenpn	A	G	8: 117,661,512 (GRCm39)	I204V	probably damaging	Het
Ces4a	A	T	8: 105,873,790 (GRCm39)	M420L	probably benign	Het
Chdh	T	A	14: 29,755,681 (GRCm39)	D322E	probably benign	Het
Clcn6	A	T	4: 148,104,223 (GRCm39)	I223N	probably damaging	Het
Clec4b1	A	G	6: 123,045,428 (GRCm39)	K50E	possibly damaging	Het
Creg1	T	A	1: 165,597,432 (GRCm39)	C135*	probably null	Het
Cyp4f13	C	T	17: 33,144,678 (GRCm39)	R411Q	probably damaging	Het
Dnah7b	T	C	1: 46,234,234 (GRCm39)	F1426L	probably damaging	Het
Dock9	A	T	14: 121,780,917 (GRCm39)	*1917R	probably null	Het
Dync1h1	T	G	12: 110,606,235 (GRCm39)	L2435R	possibly damaging	Het
Eif3l	C	A	15: 78,965,849 (GRCm39)	Y166*	probably null	Het
Emilin1	T	A	5: 31,075,128 (GRCm39)	N456K	possibly damaging	Het
Fam83f	C	T	15: 80,576,650 (GRCm39)	R434C	probably damaging	Het
Fbxw9	A	G	8: 85,786,785 (GRCm39)	D10G	possibly damaging	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Fsip2	T	G	2: 82,821,295 (GRCm39)	V5676G	possibly damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gm11596	A	G	11: 99,684,064 (GRCm39)		probably benign	Het
Gm6522	T	C	3: 106,183,286 (GRCm39)		noncoding transcript	Het
Gm6728	A	G	6: 136,464,072 (GRCm39)		noncoding transcript	Het
Gria4	T	A	9: 4,464,295 (GRCm39)	I556F	possibly damaging	Het
Grp	A	T	18: 66,013,041 (GRCm39)	D69V	probably damaging	Het
Gucy1a1	G	T	3: 82,026,469 (GRCm39)		probably benign	Het
Haus5	A	T	7: 30,357,980 (GRCm39)	L376Q	probably damaging	Het
Ifne	A	T	4: 88,797,942 (GRCm39)	Y159N	probably damaging	Het
Ift80	A	G	3: 68,898,092 (GRCm39)	V81A	probably benign	Het
Inpp5b	T	C	4: 124,645,288 (GRCm39)	V192A	probably benign	Het
Kcnh4	A	G	11: 100,640,569 (GRCm39)	S486P	probably damaging	Het
Kif5b	A	G	18: 6,222,912 (GRCm39)		probably benign	Het
Macf1	T	A	4: 123,327,096 (GRCm39)	E4800D	probably damaging	Het
Mblac2	C	T	13: 81,860,095 (GRCm39)	Q150*	probably null	Het
Mc1r	A	T	8: 124,134,255 (GRCm39)	T3S	probably benign	Het
Med17	G	A	9: 15,176,668 (GRCm39)	Q70*	probably null	Het
Myocd	A	T	11: 65,069,856 (GRCm39)		probably null	Het
Nphp3	T	C	9: 103,909,169 (GRCm39)	L793P	probably benign	Het
Or1ad1	A	G	11: 50,876,370 (GRCm39)	T281A	probably damaging	Het
Or2m13	A	T	16: 19,226,051 (GRCm39)	F238L	probably damaging	Het
Or4a68	T	G	2: 89,270,003 (GRCm39)	T207P	possibly damaging	Het
Or5an10	T	C	19: 12,275,944 (GRCm39)	D184G	probably damaging	Het
Or5ap2	T	A	2: 85,680,060 (GRCm39)	M88K	probably damaging	Het
Or8c13	T	A	9: 38,091,196 (GRCm39)	T308S	possibly damaging	Het
Piezo1	A	T	8: 123,213,660 (GRCm39)	L1745Q	probably damaging	Het
Prdm10	T	A	9: 31,258,376 (GRCm39)	H600Q	probably damaging	Het
Psapl1	C	A	5: 36,362,211 (GRCm39)	L268M	probably damaging	Het
Psg23	T	C	7: 18,346,039 (GRCm39)	I219V	probably benign	Het
Rexo5	A	T	7: 119,400,553 (GRCm39)	R113*	probably null	Het
Rgs22	A	T	15: 36,100,358 (GRCm39)	I243N	probably damaging	Het
Rhbdf1	G	A	11: 32,164,517 (GRCm39)	T183I	probably damaging	Het
Rhobtb1	T	C	10: 69,106,554 (GRCm39)	M373T	probably benign	Het
Ros1	G	T	10: 52,048,966 (GRCm39)	A88E	probably damaging	Het
Sdr16c6	A	G	4: 4,058,834 (GRCm39)	F251L	probably benign	Het
Skil	A	G	3: 31,167,562 (GRCm39)	Y398C	probably damaging	Het
Slc22a3	A	T	17: 12,683,419 (GRCm39)	M148K	probably benign	Het
Sntn	A	T	14: 13,679,103 (GRCm38)	K92N	probably benign	Het
Spry4	A	T	18: 38,722,876 (GRCm39)	S296T	probably benign	Het
St8sia1	A	G	6: 142,774,796 (GRCm39)	F261S	probably damaging	Het
Stab2	C	T	10: 86,679,364 (GRCm39)		probably null	Het
Stk24	A	T	14: 121,530,866 (GRCm39)	C363*	probably null	Het
Tank	G	A	2: 61,408,979 (GRCm39)		probably benign	Het
Tmem67	T	C	4: 12,070,262 (GRCm39)	N387S	probably benign	Het
Treml1	A	T	17: 48,673,885 (GRCm39)	I304L	probably benign	Het
Trim13	A	G	14: 61,842,966 (GRCm39)	I328V	probably benign	Het
Upk2	A	G	9: 44,365,382 (GRCm39)	V62A	probably damaging	Het
Urb2	A	T	8: 124,756,374 (GRCm39)	K694*	probably null	Het
Vmn2r17	C	A	5: 109,574,985 (GRCm39)	N97K	probably damaging	Het
Vmn2r57	A	T	7: 41,049,892 (GRCm39)	V619D	probably damaging	Het
Vmn2r92	G	A	17: 18,387,634 (GRCm39)	R213Q	probably benign	Het
Wnt6	G	A	1: 74,821,788 (GRCm39)	C123Y	probably damaging	Het
Zfp292	A	G	4: 34,819,563 (GRCm39)	I253T	probably damaging	Het
Zfp52	C	T	17: 21,781,505 (GRCm39)	S451L	probably damaging	Het

Other mutations in Slco4c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:Slco4c1	APN	1	96,768,912 (GRCm39)	missense	probably damaging	0.99
IGL01510:Slco4c1	APN	1	96,795,678 (GRCm39)	missense	probably damaging	1.00
IGL01674:Slco4c1	APN	1	96,770,218 (GRCm39)	missense	probably damaging	1.00
IGL02444:Slco4c1	APN	1	96,772,234 (GRCm39)	missense	probably damaging	1.00
IGL03355:Slco4c1	APN	1	96,770,232 (GRCm39)	nonsense	probably null
H8562:Slco4c1	UTSW	1	96,770,210 (GRCm39)	missense	probably benign	0.01
H8786:Slco4c1	UTSW	1	96,768,876 (GRCm39)	missense	probably damaging	1.00
R0350:Slco4c1	UTSW	1	96,756,574 (GRCm39)	missense	probably benign	0.18
R0463:Slco4c1	UTSW	1	96,795,645 (GRCm39)	missense	possibly damaging	0.93
R0550:Slco4c1	UTSW	1	96,795,584 (GRCm39)	missense	probably damaging	1.00
R1122:Slco4c1	UTSW	1	96,756,561 (GRCm39)	missense	possibly damaging	0.89
R1205:Slco4c1	UTSW	1	96,795,613 (GRCm39)	missense	probably damaging	1.00
R1215:Slco4c1	UTSW	1	96,756,596 (GRCm39)	missense	probably damaging	1.00
R1466:Slco4c1	UTSW	1	96,768,897 (GRCm39)	missense	probably damaging	0.97
R1466:Slco4c1	UTSW	1	96,768,897 (GRCm39)	missense	probably damaging	0.97
R1907:Slco4c1	UTSW	1	96,770,224 (GRCm39)	missense	probably damaging	1.00
R1960:Slco4c1	UTSW	1	96,795,654 (GRCm39)	missense	probably benign	0.00
R2372:Slco4c1	UTSW	1	96,748,925 (GRCm39)	missense	probably benign	0.00
R3424:Slco4c1	UTSW	1	96,768,976 (GRCm39)	missense	probably benign	0.02
R3425:Slco4c1	UTSW	1	96,768,976 (GRCm39)	missense	probably benign	0.02
R4292:Slco4c1	UTSW	1	96,772,381 (GRCm39)	critical splice acceptor site	probably null
R4656:Slco4c1	UTSW	1	96,768,970 (GRCm39)	missense	probably benign	0.01
R4852:Slco4c1	UTSW	1	96,768,953 (GRCm39)	missense	probably damaging	1.00
R4854:Slco4c1	UTSW	1	96,768,953 (GRCm39)	missense	probably damaging	1.00
R4867:Slco4c1	UTSW	1	96,768,953 (GRCm39)	missense	probably damaging	1.00
R4898:Slco4c1	UTSW	1	96,765,237 (GRCm39)	missense	probably damaging	1.00
R4900:Slco4c1	UTSW	1	96,768,953 (GRCm39)	missense	probably damaging	1.00
R5023:Slco4c1	UTSW	1	96,768,953 (GRCm39)	missense	probably damaging	1.00
R5074:Slco4c1	UTSW	1	96,768,953 (GRCm39)	missense	probably damaging	1.00
R5348:Slco4c1	UTSW	1	96,770,254 (GRCm39)	missense	probably damaging	0.99
R5356:Slco4c1	UTSW	1	96,759,835 (GRCm39)	missense	probably damaging	1.00
R5471:Slco4c1	UTSW	1	96,799,770 (GRCm39)	missense	probably benign	0.34
R5683:Slco4c1	UTSW	1	96,795,559 (GRCm39)	missense	probably damaging	1.00
R5797:Slco4c1	UTSW	1	96,746,829 (GRCm39)	missense	probably benign	0.04
R5801:Slco4c1	UTSW	1	96,799,809 (GRCm39)	missense	probably damaging	0.96
R5837:Slco4c1	UTSW	1	96,746,707 (GRCm39)	missense	probably benign	0.40
R6242:Slco4c1	UTSW	1	96,767,008 (GRCm39)	missense	probably damaging	0.99
R7014:Slco4c1	UTSW	1	96,751,506 (GRCm39)	splice site	probably null
R7112:Slco4c1	UTSW	1	96,768,866 (GRCm39)	missense	probably damaging	1.00
R7174:Slco4c1	UTSW	1	96,765,323 (GRCm39)	missense	possibly damaging	0.87
R7265:Slco4c1	UTSW	1	96,799,518 (GRCm39)	missense	probably damaging	0.99
R7275:Slco4c1	UTSW	1	96,799,497 (GRCm39)	missense	probably benign	0.38
R7305:Slco4c1	UTSW	1	96,756,690 (GRCm39)	missense	probably damaging	1.00
R7428:Slco4c1	UTSW	1	96,765,245 (GRCm39)	missense	possibly damaging	0.68
R7649:Slco4c1	UTSW	1	96,756,667 (GRCm39)	missense	probably benign	0.03
R7980:Slco4c1	UTSW	1	96,764,650 (GRCm39)	missense	probably benign	0.20
R8137:Slco4c1	UTSW	1	96,748,970 (GRCm39)	missense	probably damaging	1.00
R8188:Slco4c1	UTSW	1	96,772,261 (GRCm39)	missense	probably damaging	1.00
R8488:Slco4c1	UTSW	1	96,759,736 (GRCm39)	missense	probably benign	0.02
R8956:Slco4c1	UTSW	1	96,765,242 (GRCm39)	missense	probably damaging	1.00
R8997:Slco4c1	UTSW	1	96,795,672 (GRCm39)	missense	probably damaging	0.99
R9001:Slco4c1	UTSW	1	96,748,956 (GRCm39)	missense	probably damaging	1.00
R9163:Slco4c1	UTSW	1	96,764,633 (GRCm39)	missense	probably damaging	1.00
R9263:Slco4c1	UTSW	1	96,799,509 (GRCm39)	missense	probably damaging	1.00
R9320:Slco4c1	UTSW	1	96,795,644 (GRCm39)	nonsense	probably null
R9513:Slco4c1	UTSW	1	96,799,643 (GRCm39)	missense	probably benign
Z1176:Slco4c1	UTSW	1	96,748,955 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGAATTGGGTGATTCTAGAGTTC -3'
(R):5'- ATGATGCTTTCTGGACCATTACTC -3'

Sequencing Primer
(F):5'- ACCTGGTAAATGCTTGGG -3'
(R):5'- TGTATGTCTCTGCATGCTATTTGAC -3'

Posted On

2016-03-17