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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |