Incidental Mutation 'R4867:Slco4c1'
ID 376195
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 042477-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.319) question?
Stock # R4867 (G1)
Quality Score 225
Status Not validated
Chromosome 1
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

DomainStartEndE-ValueType
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 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik T C 8: 125,366,099 (GRCm39) I215V probably damaging Het
4921509C19Rik A T 2: 151,314,742 (GRCm39) L312* probably null Het
9930111J21Rik1 T A 11: 48,839,375 (GRCm39) probably null Het
Abca6 C A 11: 110,093,205 (GRCm39) V1023F probably benign Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Acsbg2 A G 17: 57,169,914 (GRCm39) I151T possibly damaging Het
Arid1a G A 4: 133,448,168 (GRCm39) S115L probably benign Het
B4galnt2 T C 11: 95,759,252 (GRCm39) D344G probably damaging Het
Ccdc40 T C 11: 119,122,614 (GRCm39) S139P probably benign Het
Ccnjl T C 11: 43,474,055 (GRCm39) V210A possibly damaging Het
Cdk5rap1 C T 2: 154,212,876 (GRCm39) probably null Het
Cfhr4 A T 1: 139,702,213 (GRCm39) probably null Het
Cog4 T C 8: 111,593,242 (GRCm39) V451A probably damaging Het
Crb1 A T 1: 139,170,752 (GRCm39) N818K probably damaging Het
Crtc1 T C 8: 70,855,164 (GRCm39) D152G probably damaging Het
Cse1l T A 2: 166,768,323 (GRCm39) I207N possibly damaging Het
Cux1 TGGCAGGCGCG TG 5: 136,303,815 (GRCm39) probably benign Het
Cyp2j13 T C 4: 95,947,235 (GRCm39) Y272C possibly damaging Het
Cyp4f16 T C 17: 32,769,724 (GRCm39) F445L possibly damaging Het
Dlc1 T C 8: 37,051,799 (GRCm39) H644R probably benign Het
Ecm2 A T 13: 49,684,821 (GRCm39) I643F probably damaging Het
Eogt A T 6: 97,097,108 (GRCm39) probably benign Het
Fbxo41 A C 6: 85,452,176 (GRCm39) S777A probably benign Het
Fga T A 3: 82,935,951 (GRCm39) D59E probably benign Het
Flt3 A T 5: 147,271,250 (GRCm39) V897D probably damaging Het
Fmn1 G T 2: 113,414,465 (GRCm39) probably null Het
Frem3 T C 8: 81,339,912 (GRCm39) L735P probably damaging Het
Ftmt A T 18: 52,465,125 (GRCm39) D147V possibly damaging Het
Gabpa T A 16: 84,654,356 (GRCm39) D344E probably benign Het
Gtf3a C T 5: 146,888,723 (GRCm39) Q145* probably null Het
Il36rn A T 2: 24,170,847 (GRCm39) N48I probably damaging Het
Iqca1 A G 1: 90,017,226 (GRCm39) L403S probably benign Het
Jrk C T 15: 74,579,069 (GRCm39) R72Q probably benign Het
Kif19a G A 11: 114,658,053 (GRCm39) M37I probably benign Het
Krt12 T C 11: 99,307,789 (GRCm39) D433G possibly damaging Het
Lce1h A T 3: 92,670,770 (GRCm39) S127R unknown Het
Lrrc7 T G 3: 157,866,642 (GRCm39) Y1033S probably damaging Het
Macf1 A G 4: 123,365,993 (GRCm39) S1358P probably damaging Het
Mfsd1 T A 3: 67,495,320 (GRCm39) probably null Het
Mki67 T C 7: 135,301,585 (GRCm39) T1150A probably damaging Het
Nadk2 A G 15: 9,098,946 (GRCm39) I291M possibly damaging Het
Or13g1 T C 7: 85,955,491 (GRCm39) T277A probably benign Het
Or1j12 A C 2: 36,343,211 (GRCm39) M205L probably benign Het
Or2r2 A G 6: 42,464,031 (GRCm39) V32A probably benign Het
Or6e1 T A 14: 54,520,086 (GRCm39) T89S probably benign Het
Or7g17 A T 9: 18,768,862 (GRCm39) I305F probably benign Het
Parp14 T A 16: 35,677,697 (GRCm39) Y757F probably benign Het
Pcdh18 T C 3: 49,709,113 (GRCm39) Y734C probably damaging Het
Pcnx4 T C 12: 72,620,726 (GRCm39) S849P probably benign Het
Pds5a T C 5: 65,801,463 (GRCm39) K595E probably damaging Het
Prkg2 T A 5: 99,172,568 (GRCm39) Y49F probably benign Het
Prr5 G T 15: 84,624,967 (GRCm39) L46F probably benign Het
Ptgdr G T 14: 45,096,253 (GRCm39) P153Q probably damaging Het
Rbm12b2 T C 4: 12,094,805 (GRCm39) S555P probably damaging Het
Rhog T G 7: 101,889,357 (GRCm39) Y32S probably damaging Het
Rnf141 T C 7: 110,415,975 (GRCm39) T209A probably damaging Het
Rtkn2 T C 10: 67,837,757 (GRCm39) I103T probably damaging Het
Scn5a G T 9: 119,379,737 (GRCm39) C182* probably null Het
Sema3a A G 5: 13,501,208 (GRCm39) N84D probably benign Het
Sema5a G T 15: 32,550,436 (GRCm39) M158I possibly damaging Het
Shprh T A 10: 11,040,301 (GRCm39) D71E probably benign Het
Slc26a8 A G 17: 28,882,608 (GRCm39) I239T probably benign Het
Ston1 C T 17: 88,943,122 (GRCm39) A176V probably damaging Het
Sult2a5 T C 7: 13,357,976 (GRCm39) S3P probably benign Het
Tango6 T A 8: 107,545,158 (GRCm39) V1007E probably damaging Het
Tank G A 2: 61,408,979 (GRCm39) probably benign Het
Tas2r124 A G 6: 132,732,156 (GRCm39) Y155C probably damaging Het
Tenm3 G A 8: 48,688,856 (GRCm39) R2244W probably damaging Het
Thoc2l T C 5: 104,668,868 (GRCm39) I1130T possibly damaging Het
Tlk1 A T 2: 70,551,915 (GRCm39) Y585* probably null Het
Tmem221 C T 8: 72,007,784 (GRCm39) E214K probably benign Het
Tmem38a T C 8: 73,335,077 (GRCm39) V172A possibly damaging Het
Tspo2 C T 17: 48,755,705 (GRCm39) A146T possibly damaging Het
Ttc3 G A 16: 94,255,374 (GRCm39) A1268T probably damaging Het
Usp25 T A 16: 76,847,355 (GRCm39) D154E probably damaging Het
Usp34 T C 11: 23,401,999 (GRCm39) F2410L probably benign Het
Vmn1r128 T A 7: 21,083,939 (GRCm39) H214Q possibly damaging Het
Vmn1r24 A C 6: 57,933,421 (GRCm39) C32W probably damaging Het
Zfp931 T A 2: 177,709,855 (GRCm39) H177L probably damaging Het
Znrf1 T C 8: 112,264,198 (GRCm39) probably null Het
Other mutations in Slco4c1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R4865: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'- GTATGTACATCTATGACAGGAATTGGG -3'
(R):5'- GTTATACTTGTATGTCTCTGCATGC -3'

Sequencing Primer
(F):5'- CATCTATGACAGGAATTGGGTGATTC -3'
(R):5'- CATGCTATTTGACTCGTGATGGC -3'
Posted On 2016-03-17