Incidental Mutation 'R9359:Slco6c1'
ID 708563
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 # R9359 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 96986763-97056026 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96990248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 664 (S664R)
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: S664R

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027569
Gene: ENSMUSG00000026331
AA Change: S664R

DomainStartEndE-ValueType
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: S647R

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140791
Gene: ENSMUSG00000026331
AA Change: S647R

DomainStartEndE-ValueType
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: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (45/45)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angpt4 C T 2: 151,780,892 (GRCm39) T380M probably damaging Het
Ankrd50 A T 3: 38,537,172 (GRCm39) N60K probably damaging Het
Atp6v0a4 G A 6: 38,059,048 (GRCm39) T245I probably benign Het
Calcoco2 TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,862 (GRCm39) probably null Het
Cyp2j13 T C 4: 95,950,170 (GRCm39) D277G probably damaging Het
Def8 A T 8: 124,185,105 (GRCm39) I310F probably benign Het
Dmtf1 A G 5: 9,171,927 (GRCm39) L503S possibly damaging Het
Dock1 T C 7: 134,770,125 (GRCm39) V1795A probably benign Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Gabbr1 A G 17: 37,381,605 (GRCm39) T790A probably damaging Het
Glg1 C T 8: 111,914,425 (GRCm39) R453Q probably benign Het
Gm10549 C T 18: 33,597,375 (GRCm39) P54S unknown Het
Gpld1 G A 13: 25,163,712 (GRCm39) V502I probably benign Het
Ifnar1 C T 16: 91,292,367 (GRCm39) P207L probably benign Het
Inhba A G 13: 16,191,966 (GRCm39) H29R probably benign Het
Insr G C 8: 3,208,717 (GRCm39) P1248R probably damaging Het
Ipcef1 C T 10: 6,840,663 (GRCm39) D349N probably damaging Het
Itga4 T A 2: 79,156,004 (GRCm39) I990N possibly damaging Het
Malrd1 T C 2: 15,618,988 (GRCm39) V284A Het
Maml2 C T 9: 13,532,969 (GRCm39) Q728* probably null Het
Mex3d A T 10: 80,217,581 (GRCm39) N545K Het
Mios T A 6: 8,214,894 (GRCm39) V30E probably benign Het
Muc16 A G 9: 18,449,060 (GRCm39) probably null Het
Naxd A G 8: 11,562,968 (GRCm39) K303E possibly damaging Het
Or2w1 T C 13: 21,317,865 (GRCm39) F307L probably benign Het
Or4l1 T C 14: 50,166,906 (GRCm39) T32A probably benign Het
Or5a21 T A 19: 12,310,803 (GRCm39) H139L possibly damaging Het
Or9q2 C T 19: 13,772,200 (GRCm39) M258I probably damaging Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Pknox1 C T 17: 31,822,229 (GRCm39) T332M possibly damaging Het
Ptgdr A G 14: 45,090,715 (GRCm39) S348P Het
Ptpdc1 T A 13: 48,740,030 (GRCm39) E467V probably benign Het
Qsox1 A G 1: 155,658,343 (GRCm39) S409P probably damaging Het
Rfx4 A G 10: 84,740,921 (GRCm39) T680A probably benign Het
Slc30a5 T C 13: 100,949,970 (GRCm39) T371A probably damaging Het
Slc5a7 A T 17: 54,583,669 (GRCm39) N540K probably benign Het
Tbxa2r A G 10: 81,168,958 (GRCm39) S216G probably damaging Het
Tgm4 C A 9: 122,881,837 (GRCm39) S344R probably damaging Het
Thoc6 A G 17: 23,887,823 (GRCm39) V328A possibly damaging Het
Trim61 T A 8: 65,467,228 (GRCm39) Q11L probably damaging Het
Txndc2 G A 17: 65,944,992 (GRCm39) T395I probably damaging Het
Txndc9 T C 1: 38,034,859 (GRCm39) E15G probably benign Het
Unc93a2 G T 17: 7,641,842 (GRCm39) T202K probably damaging Het
Uspl1 G A 5: 149,146,481 (GRCm39) V411M probably damaging Het
Vcpip1 A G 1: 9,816,049 (GRCm39) I778T possibly damaging Het
Vps54 A G 11: 21,242,108 (GRCm39) T408A probably benign Het
Wscd1 T C 11: 71,650,799 (GRCm39) L42P possibly damaging Het
Other mutations in Slco6c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00547:Slco6c1 APN 1 97,015,674 (GRCm39) missense probably benign 0.00
IGL00571:Slco6c1 APN 1 97,015,676 (GRCm39) missense probably benign 0.04
IGL01483:Slco6c1 APN 1 97,055,832 (GRCm39) missense probably benign
IGL01543:Slco6c1 APN 1 97,053,553 (GRCm39) missense possibly damaging 0.95
IGL01860:Slco6c1 APN 1 97,003,548 (GRCm39) splice site probably benign
IGL03106:Slco6c1 APN 1 96,993,748 (GRCm39) splice site probably benign
R0087:Slco6c1 UTSW 1 97,046,303 (GRCm39) missense probably benign 0.00
R0543:Slco6c1 UTSW 1 97,055,623 (GRCm39) missense probably damaging 0.99
R0674:Slco6c1 UTSW 1 97,032,498 (GRCm39) splice site probably benign
R0826:Slco6c1 UTSW 1 97,055,826 (GRCm39) missense probably benign 0.00
R0928:Slco6c1 UTSW 1 97,032,573 (GRCm39) missense possibly damaging 0.88
R0969:Slco6c1 UTSW 1 97,047,685 (GRCm39) missense probably benign 0.05
R1366:Slco6c1 UTSW 1 97,055,928 (GRCm39) start gained probably null
R1559:Slco6c1 UTSW 1 97,026,223 (GRCm39) missense probably damaging 1.00
R1594:Slco6c1 UTSW 1 96,990,163 (GRCm39) missense probably benign 0.36
R1901:Slco6c1 UTSW 1 97,000,707 (GRCm39) missense probably damaging 0.98
R2005:Slco6c1 UTSW 1 97,009,214 (GRCm39) missense probably damaging 0.99
R2101:Slco6c1 UTSW 1 97,000,595 (GRCm39) nonsense probably null
R2102:Slco6c1 UTSW 1 97,055,656 (GRCm39) missense probably benign 0.02
R2120:Slco6c1 UTSW 1 96,993,808 (GRCm39) missense possibly damaging 0.57
R2135:Slco6c1 UTSW 1 97,032,542 (GRCm39) missense probably benign 0.01
R2295:Slco6c1 UTSW 1 97,053,473 (GRCm39) missense probably damaging 1.00
R2437:Slco6c1 UTSW 1 96,990,201 (GRCm39) missense probably benign 0.22
R4004:Slco6c1 UTSW 1 97,003,610 (GRCm39) missense probably damaging 1.00
R4133:Slco6c1 UTSW 1 97,009,218 (GRCm39) missense probably benign 0.02
R4643:Slco6c1 UTSW 1 96,990,149 (GRCm39) missense probably benign 0.00
R4786:Slco6c1 UTSW 1 97,015,720 (GRCm39) missense probably benign 0.04
R4942:Slco6c1 UTSW 1 97,009,049 (GRCm39) missense probably damaging 1.00
R5485:Slco6c1 UTSW 1 97,053,481 (GRCm39) missense probably damaging 1.00
R5573:Slco6c1 UTSW 1 97,055,656 (GRCm39) missense probably benign 0.00
R5810:Slco6c1 UTSW 1 97,003,598 (GRCm39) missense probably damaging 1.00
R6033:Slco6c1 UTSW 1 97,009,041 (GRCm39) splice site probably null
R6033:Slco6c1 UTSW 1 97,009,041 (GRCm39) splice site probably null
R6191:Slco6c1 UTSW 1 96,993,808 (GRCm39) missense possibly damaging 0.57
R6197:Slco6c1 UTSW 1 97,000,518 (GRCm39) critical splice donor site probably null
R6286:Slco6c1 UTSW 1 97,053,445 (GRCm39) missense possibly damaging 0.90
R6404:Slco6c1 UTSW 1 97,046,330 (GRCm39) missense probably damaging 1.00
R6430:Slco6c1 UTSW 1 97,003,699 (GRCm39) missense probably benign 0.43
R6492:Slco6c1 UTSW 1 97,053,538 (GRCm39) missense probably damaging 0.99
R6649:Slco6c1 UTSW 1 97,053,436 (GRCm39) missense probably benign 0.44
R6940:Slco6c1 UTSW 1 97,000,626 (GRCm39) missense possibly damaging 0.80
R7138:Slco6c1 UTSW 1 97,047,706 (GRCm39) missense possibly damaging 0.95
R7213:Slco6c1 UTSW 1 97,055,671 (GRCm39) missense probably benign
R7234:Slco6c1 UTSW 1 97,053,466 (GRCm39) missense probably benign 0.06
R7320:Slco6c1 UTSW 1 97,055,887 (GRCm39) missense possibly damaging 0.83
R7375:Slco6c1 UTSW 1 97,009,146 (GRCm39) missense possibly damaging 0.58
R7383:Slco6c1 UTSW 1 97,003,608 (GRCm39) nonsense probably null
R7422:Slco6c1 UTSW 1 97,009,207 (GRCm39) missense probably benign 0.17
R7491:Slco6c1 UTSW 1 97,055,579 (GRCm39) missense probably benign 0.32
R7561:Slco6c1 UTSW 1 97,000,691 (GRCm39) missense probably damaging 1.00
R7890:Slco6c1 UTSW 1 96,990,192 (GRCm39) missense possibly damaging 0.59
R8115:Slco6c1 UTSW 1 97,000,686 (GRCm39) missense probably damaging 1.00
R8409:Slco6c1 UTSW 1 97,003,663 (GRCm39) missense probably damaging 0.99
R8422:Slco6c1 UTSW 1 97,053,508 (GRCm39) missense probably damaging 1.00
R8824:Slco6c1 UTSW 1 97,055,884 (GRCm39) missense possibly damaging 0.84
R8905:Slco6c1 UTSW 1 97,053,391 (GRCm39) missense possibly damaging 0.68
R9183:Slco6c1 UTSW 1 96,996,775 (GRCm39) critical splice acceptor site probably null
R9300:Slco6c1 UTSW 1 96,993,809 (GRCm39) missense probably benign 0.37
R9374:Slco6c1 UTSW 1 97,055,827 (GRCm39) missense probably benign 0.00
R9403:Slco6c1 UTSW 1 96,990,248 (GRCm39) missense possibly damaging 0.94
R9499:Slco6c1 UTSW 1 97,055,827 (GRCm39) missense probably benign 0.00
R9551:Slco6c1 UTSW 1 97,055,827 (GRCm39) missense probably benign 0.00
R9674:Slco6c1 UTSW 1 97,047,565 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCATTGACAAAGTGAAAGTATACAA -3'
(R):5'- TGTACTTGCAATTTAGCATAGTTCA -3'

Sequencing Primer
(F):5'- CTCTCAGTGATTTCTCCATG -3'
(R):5'- GACATTACATCTGTGAGCTAT -3'
Posted On 2022-04-18