Incidental Mutation 'R6492:Slco6c1'
ID 522911
Institutional Source Beutler Lab
Gene Symbol Slco6c1
Ensembl Gene ENSMUSG00000026331
Gene Name solute carrier organic anion transporter family, member 6c1
Synonyms 4933404A18Rik
MMRRC Submission 044624-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6492 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 96986763-97056026 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 97053538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 121 (Y121S)
Ref Sequence ENSEMBL: ENSMUSP00000140791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027569] [ENSMUST00000189547]
AlphaFold Q8C0X7
Predicted Effect probably damaging
Transcript: ENSMUST00000027569
AA Change: Y121S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027569
Gene: ENSMUSG00000026331
AA Change: Y121S

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 probably damaging
Transcript: ENSMUST00000189547
AA Change: Y121S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140791
Gene: ENSMUSG00000026331
AA Change: Y121S

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.5%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,631,464 (GRCm39) T587I probably benign Het
Abl1 T A 2: 31,691,667 (GRCm39) M1062K probably benign Het
Agbl4 G A 4: 111,404,469 (GRCm39) D272N probably damaging Het
Apob A T 12: 8,058,261 (GRCm39) I2215F probably damaging Het
Atp10b A T 11: 43,109,784 (GRCm39) Q821H probably damaging Het
Atp1a3 T C 7: 24,678,729 (GRCm39) Y971C probably damaging Het
Atp6ap1l A T 13: 91,031,841 (GRCm39) H280Q probably damaging Het
B4galt2 A T 4: 117,734,164 (GRCm39) M291K probably damaging Het
Cachd1 G T 4: 100,809,315 (GRCm39) V267F possibly damaging Het
Cadm2 G T 16: 66,581,715 (GRCm39) L188M probably damaging Het
Ccn6 C T 10: 39,030,983 (GRCm39) G180D probably benign Het
Ceacam19 T C 7: 19,616,517 (GRCm39) N199S probably benign Het
Chrna5 A G 9: 54,905,347 (GRCm39) D53G probably benign Het
Clca4a T A 3: 144,663,059 (GRCm39) T597S probably benign Het
Cluap1 T A 16: 3,746,476 (GRCm39) M279K probably benign Het
Cngb1 T A 8: 95,991,052 (GRCm39) M717L probably benign Het
Cp T C 3: 20,036,186 (GRCm39) V777A probably benign Het
Drosha A G 15: 12,861,792 (GRCm39) D594G probably benign Het
Exo5 A G 4: 120,778,734 (GRCm39) probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gprc5b A G 7: 118,583,800 (GRCm39) I23T possibly damaging Het
Ikbke T C 1: 131,186,955 (GRCm39) Y579C probably damaging Het
Ikzf2 T C 1: 69,578,201 (GRCm39) Y362C probably damaging Het
Itfg1 A G 8: 86,466,978 (GRCm39) V365A probably benign Het
Josd2 T C 7: 44,120,578 (GRCm39) I105T probably damaging Het
Mc3r G A 2: 172,091,074 (GRCm39) A99T possibly damaging Het
Mettl22 T A 16: 8,306,755 (GRCm39) probably null Het
Mgat5 A G 1: 127,399,301 (GRCm39) I619V probably benign Het
Nin T C 12: 70,101,308 (GRCm39) I430V probably benign Het
Or52n2c C A 7: 104,574,852 (GRCm39) A40S possibly damaging Het
Or5au1 A G 14: 52,272,902 (GRCm39) F222S probably benign Het
Or5j3 T C 2: 86,128,990 (GRCm39) F277L probably benign Het
Or5w22 C G 2: 87,363,085 (GRCm39) A236G possibly damaging Het
Or8k3 T A 2: 86,058,731 (GRCm39) I195F possibly damaging Het
Parvb T C 15: 84,188,073 (GRCm39) L272P probably damaging Het
Pde2a A G 7: 101,149,649 (GRCm39) K180E possibly damaging Het
Pik3c3 C T 18: 30,457,615 (GRCm39) T736M probably damaging Het
Plcb4 C T 2: 135,814,991 (GRCm39) R760* probably null Het
Pramel6 C T 2: 87,340,766 (GRCm39) T366I probably benign Het
Prr29 C T 11: 106,266,062 (GRCm39) R42W probably damaging Het
Prss12 A G 3: 123,241,048 (GRCm39) I81V probably benign Het
Ptpn13 A G 5: 103,649,478 (GRCm39) T294A probably benign Het
Ptprc A T 1: 138,041,300 (GRCm39) probably null Het
Sin3b T A 8: 73,460,118 (GRCm39) probably null Het
Slco5a1 T C 1: 13,060,151 (GRCm39) Y190C probably damaging Het
Srcap G T 7: 127,121,317 (GRCm39) G217* probably null Het
Ss18 A T 18: 14,784,145 (GRCm39) M181K probably damaging Het
Synm T C 7: 67,385,809 (GRCm39) T176A probably benign Het
Taf3 T C 2: 9,955,971 (GRCm39) E579G probably damaging Het
Taf7 A G 18: 37,776,159 (GRCm39) I136T probably damaging Het
Tfap2d G C 1: 19,174,702 (GRCm39) G52R probably benign Het
Tyrp1 A G 4: 80,759,018 (GRCm39) D297G probably null Het
Uox C T 3: 146,330,332 (GRCm39) R163* probably null Het
Wwp1 G A 4: 19,650,299 (GRCm39) S289L possibly damaging Het
Xbp1 T C 11: 5,471,005 (GRCm39) V4A probably benign Het
Zbtb17 G A 4: 141,190,694 (GRCm39) G171S probably benign Het
Zbtb2 T C 10: 4,319,711 (GRCm39) Y105C probably damaging Het
Zeb2 T C 2: 45,000,508 (GRCm39) probably benign Het
Zkscan8 A T 13: 21,709,397 (GRCm39) I167N probably benign 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
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
R9359:Slco6c1 UTSW 1 96,990,248 (GRCm39) missense possibly damaging 0.94
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'- AACAGTATCTCACCTATGCTTTGTC -3'
(R):5'- GAGGGTTCAAATGTAGTTGATCTC -3'

Sequencing Primer
(F):5'- ACCTATGCTTTGTCTTCCCGG -3'
(R):5'- CTCTATGACTACTAATACAGGTACT -3'
Posted On 2018-06-06