Incidental Mutation 'R3424:Slco4c1'
ID 267836
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 040642-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.319) question?
Stock # R3424 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 96744918-96800027 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96768976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 295 (S295R)
Ref Sequence ENSEMBL: ENSMUSP00000071875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071985]
AlphaFold Q8BGD4
Predicted Effect probably benign
Transcript: ENSMUST00000071985
AA Change: S295R

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000071875
Gene: ENSMUSG00000040693
AA Change: S295R

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030469F06Rik G T 12: 31,234,632 (GRCm39) noncoding transcript Het
Atp8b3 T C 10: 80,372,181 (GRCm39) E16G probably benign Het
BC016579 T A 16: 45,449,846 (GRCm39) I191F probably damaging Het
Cdh23 T G 10: 60,212,660 (GRCm39) I1584L possibly damaging Het
Cep250 G A 2: 155,823,381 (GRCm39) D1011N probably benign Het
Coro2b A T 9: 62,336,590 (GRCm39) probably null Het
Csf3r A G 4: 125,937,549 (GRCm39) D811G probably damaging Het
Dst T G 1: 34,237,586 (GRCm39) probably benign Het
Gabrr1 T C 4: 33,158,058 (GRCm39) L227P probably damaging Het
Galnt10 T C 11: 57,536,539 (GRCm39) V52A probably benign Het
Golga4 A C 9: 118,363,715 (GRCm39) D229A probably benign Het
Heatr5b G A 17: 79,075,833 (GRCm39) T1495I possibly damaging Het
Hoxd4 A G 2: 74,557,657 (GRCm39) Y12C probably damaging Het
Hps1 A T 19: 42,748,952 (GRCm39) M522K possibly damaging Het
Lrrc8e A T 8: 4,284,611 (GRCm39) I279F probably damaging Het
Mettl24 C T 10: 40,559,637 (GRCm39) Q96* probably null Het
Muc2 A G 7: 141,279,595 (GRCm39) N193S probably damaging Het
Mysm1 A G 4: 94,853,558 (GRCm39) L347P probably benign Het
Or10g9 T A 9: 39,911,830 (GRCm39) E231V probably damaging Het
Oxtr G T 6: 112,454,191 (GRCm39) H24Q probably benign Het
Paxip1 A G 5: 27,980,671 (GRCm39) probably benign Het
Pclo C T 5: 14,730,432 (GRCm39) probably benign Het
Ros1 C A 10: 52,004,512 (GRCm39) probably null Het
Slc18b1 T G 10: 23,698,874 (GRCm39) M348R probably damaging Het
Tmeff2 A G 1: 51,018,776 (GRCm39) probably benign Het
Tspan31 T A 10: 126,904,371 (GRCm39) Q141L probably benign Het
Virma G T 4: 11,513,177 (GRCm39) E344* probably null Het
Zbtb17 G T 4: 141,192,299 (GRCm39) G415C probably damaging 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
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
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'- TATGATGCTTTCTGGACCATTACTC -3'

Sequencing Primer
(F):5'- TCTTGAAACCAACTGATCTAGACG -3'
(R):5'- GCTTTCTGGACCATTACTCTTAATTC -3'
Posted On 2015-02-18