Incidental Mutation 'R7890:Slco6c1'
| ID |
609246 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco6c1
|
| Ensembl Gene |
ENSMUSG00000026331 |
| Gene Name |
solute carrier organic anion transporter family, member 6c1 |
| Synonyms |
4933404A18Rik |
| MMRRC Submission |
045942-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7890 (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 G
at 96990192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 683
(V683A)
|
| 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: V683A
PolyPhen 2
Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000027569
Gene: ENSMUSG00000026331
AA Change: V683A
| 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: V666A
PolyPhen 2
Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000140791
Gene: ENSMUSG00000026331
AA Change: V666A
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
A |
5: 77,031,969 (GRCm39) |
K551N |
probably benign |
Het |
| Acp4 |
A |
C |
7: 43,903,528 (GRCm39) |
L262R |
probably damaging |
Het |
| Acsf3 |
G |
T |
8: 123,512,704 (GRCm39) |
|
probably null |
Het |
| Ago4 |
T |
C |
4: 126,419,869 (GRCm39) |
Q36R |
probably benign |
Het |
| Ankrd31 |
T |
A |
13: 96,968,379 (GRCm39) |
I672K |
probably benign |
Het |
| Astn1 |
A |
T |
1: 158,407,903 (GRCm39) |
D628V |
probably damaging |
Het |
| Brca2 |
T |
C |
5: 150,462,846 (GRCm39) |
V870A |
possibly damaging |
Het |
| Camk4 |
T |
C |
18: 33,318,058 (GRCm39) |
V405A |
probably benign |
Het |
| Carmil1 |
A |
T |
13: 24,197,215 (GRCm39) |
S146T |
|
Het |
| Cflar |
T |
A |
1: 58,791,915 (GRCm39) |
L406Q |
|
Het |
| Clic6 |
T |
A |
16: 92,296,275 (GRCm39) |
S312T |
probably benign |
Het |
| Col5a2 |
T |
C |
1: 45,444,147 (GRCm39) |
|
probably null |
Het |
| Ctc1 |
C |
A |
11: 68,917,355 (GRCm39) |
Q384K |
probably damaging |
Het |
| Defa24 |
A |
G |
8: 22,224,556 (GRCm39) |
K2E |
probably damaging |
Het |
| Dis3l |
C |
A |
9: 64,229,753 (GRCm39) |
A309S |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,962,898 (GRCm39) |
S1806P |
probably damaging |
Het |
| Dolk |
C |
T |
2: 30,174,726 (GRCm39) |
V440I |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,762,298 (GRCm39) |
|
probably null |
Het |
| Fntb |
T |
C |
12: 76,920,224 (GRCm39) |
|
probably null |
Het |
| Gm4846 |
A |
T |
1: 166,322,228 (GRCm39) |
V113E |
probably benign |
Het |
| Gm5592 |
G |
T |
7: 40,936,183 (GRCm39) |
Q228H |
probably damaging |
Het |
| Gm5916 |
T |
A |
9: 36,032,291 (GRCm39) |
T48S |
possibly damaging |
Het |
| Ift172 |
G |
T |
5: 31,440,425 (GRCm39) |
Y287* |
probably null |
Het |
| Il27ra |
T |
C |
8: 84,760,614 (GRCm39) |
I450M |
probably damaging |
Het |
| Krtap31-2 |
T |
A |
11: 99,827,377 (GRCm39) |
C70S |
possibly damaging |
Het |
| Lipo4 |
T |
A |
19: 33,478,964 (GRCm39) |
H292L |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,915,154 (GRCm39) |
F3283L |
probably damaging |
Het |
| Mctp1 |
T |
G |
13: 76,975,876 (GRCm39) |
C750G |
probably damaging |
Het |
| Msantd5 |
C |
T |
11: 51,125,665 (GRCm39) |
S196L |
probably damaging |
Het |
| Mtmr7 |
T |
C |
8: 41,004,776 (GRCm39) |
D600G |
possibly damaging |
Het |
| Mylk |
C |
T |
16: 34,784,018 (GRCm39) |
Q1395* |
probably null |
Het |
| Nap1l5 |
T |
A |
6: 58,883,873 (GRCm39) |
D27V |
probably damaging |
Het |
| Nfkbib |
T |
C |
7: 28,461,512 (GRCm39) |
D75G |
probably damaging |
Het |
| Nlrc4 |
T |
A |
17: 74,744,503 (GRCm39) |
M793L |
probably benign |
Het |
| Or13m2-ps1 |
T |
A |
6: 42,778,426 (GRCm39) |
C250* |
probably null |
Het |
| Or52ab4 |
G |
T |
7: 102,987,537 (GRCm39) |
C92F |
probably benign |
Het |
| Or5p52 |
T |
C |
7: 107,502,250 (GRCm39) |
S109P |
probably benign |
Het |
| Or7g19 |
T |
C |
9: 18,856,799 (GRCm39) |
M285T |
probably benign |
Het |
| Or8g37 |
C |
T |
9: 39,731,310 (GRCm39) |
A125V |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,478,146 (GRCm39) |
R207Q |
probably damaging |
Het |
| Plek |
T |
C |
11: 16,945,238 (GRCm39) |
T54A |
probably benign |
Het |
| Pno1 |
C |
A |
11: 17,161,443 (GRCm39) |
R22L |
probably benign |
Het |
| Prkca |
A |
T |
11: 107,903,510 (GRCm39) |
N287K |
probably damaging |
Het |
| Rapgef6 |
C |
G |
11: 54,517,549 (GRCm39) |
H414D |
probably damaging |
Het |
| Rpa1 |
CA |
C |
11: 75,198,050 (GRCm39) |
|
probably null |
Het |
| Rpap2 |
T |
C |
5: 107,754,777 (GRCm39) |
C136R |
probably damaging |
Het |
| Rtl1 |
C |
T |
12: 109,559,251 (GRCm39) |
E863K |
possibly damaging |
Het |
| Ryr3 |
A |
T |
2: 112,757,257 (GRCm39) |
I366N |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,373,456 (GRCm39) |
I508V |
probably benign |
Het |
| Sec14l3 |
A |
G |
11: 4,024,795 (GRCm39) |
D248G |
probably damaging |
Het |
| Six6 |
A |
T |
12: 72,987,317 (GRCm39) |
Q163L |
probably benign |
Het |
| Smc1b |
A |
G |
15: 84,950,529 (GRCm39) |
V1165A |
probably damaging |
Het |
| Smgc |
A |
T |
15: 91,731,279 (GRCm39) |
Q241L |
possibly damaging |
Het |
| Tdrp |
A |
T |
8: 14,005,727 (GRCm39) |
S65T |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,555,663 (GRCm39) |
Y785F |
probably damaging |
Het |
| Themis2 |
T |
G |
4: 132,516,954 (GRCm39) |
Q182P |
probably damaging |
Het |
| Tmem86b |
G |
T |
7: 4,631,404 (GRCm39) |
S216* |
probably null |
Het |
| Ttyh2 |
T |
A |
11: 114,577,272 (GRCm39) |
I61N |
possibly damaging |
Het |
| Vmn2r97 |
A |
T |
17: 19,149,802 (GRCm39) |
T397S |
probably benign |
Het |
| Zfp141 |
C |
T |
7: 42,125,903 (GRCm39) |
D190N |
probably damaging |
Het |
| Zfp58 |
T |
C |
13: 67,640,114 (GRCm39) |
R126G |
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 |
|
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'- TGTGGGAGGATATGAGGCATATT -3'
(R):5'- AGACATTACATCTGTGAGCTATATGAT -3'
Sequencing Primer
(F):5'- TCCATTGACAAAGTGAAAGT -3'
(R):5'- GAAAAAGTGTGTAAGCATGT -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation