Incidental Mutation 'IGL00571:Slco6c1'
ID 7404
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slco6c1
Ensembl Gene ENSMUSG00000026331
Gene Name solute carrier organic anion transporter family, member 6c1
Synonyms 4933404A18Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00571
Quality Score
Status
Chromosome 1
Chromosomal Location 96986763-97056026 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97015676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 372 (N372D)
Ref Sequence ENSEMBL: ENSMUSP00000140791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027569] [ENSMUST00000189547]
AlphaFold Q8C0X7
Predicted Effect probably benign
Transcript: ENSMUST00000027569
AA Change: N389D

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000027569
Gene: ENSMUSG00000026331
AA Change: N389D

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 benign
Transcript: ENSMUST00000189547
AA Change: N372D

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000140791
Gene: ENSMUSG00000026331
AA Change: N372D

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr T G 11: 76,359,566 (GRCm39) S180R probably benign Het
Atrn G T 2: 130,836,968 (GRCm39) R1144L probably damaging Het
Dsc1 G T 18: 20,243,195 (GRCm39) S86Y probably damaging Het
Ets2 C A 16: 95,513,185 (GRCm39) N120K probably benign Het
Fas A T 19: 34,296,018 (GRCm39) T154S probably damaging Het
Fbxo41 T C 6: 85,455,084 (GRCm39) probably null Het
Fzd8 A T 18: 9,213,068 (GRCm39) Y50F unknown Het
Hmcn1 C T 1: 150,514,750 (GRCm39) V3541I probably benign Het
Il6st G A 13: 112,624,394 (GRCm39) V215M probably damaging Het
Kif13b G A 14: 64,983,866 (GRCm39) V581M probably damaging Het
Liph A G 16: 21,786,890 (GRCm39) F242S probably damaging Het
Nacc2 T C 2: 25,979,702 (GRCm39) T245A probably benign Het
Nlrp1b C T 11: 71,054,799 (GRCm39) D889N probably null Het
Parp4 T A 14: 56,884,810 (GRCm39) S1296R unknown Het
Prr23a4 A C 9: 98,785,739 (GRCm39) T135P possibly damaging Het
Sec24a G A 11: 51,627,331 (GRCm39) Q194* probably null Het
Sprr2a3 T A 3: 92,196,074 (GRCm39) Y60* probably null Het
Tdrd6 T A 17: 43,939,051 (GRCm39) I666F probably damaging Het
Tlr1 T C 5: 65,083,777 (GRCm39) I267V probably benign Het
Tmtc2 A G 10: 105,157,307 (GRCm39) I633T possibly damaging Het
Ttc33 A G 15: 5,246,809 (GRCm39) D205G probably damaging Het
Uspl1 A G 5: 149,125,170 (GRCm39) K26E probably damaging Het
Zfp639 A G 3: 32,574,068 (GRCm39) D231G probably damaging Het
Other mutations in Slco6c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00547:Slco6c1 APN 1 97,015,674 (GRCm39) missense probably benign 0.00
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
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
Posted On 2012-04-20