Incidental Mutation 'R6197:Slco6c1'
ID |
502957 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slco6c1
|
Ensembl Gene |
ENSMUSG00000026331 |
Gene Name |
solute carrier organic anion transporter family, member 6c1 |
Synonyms |
4933404A18Rik |
MMRRC Submission |
044337-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6197 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
96986763-97056026 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 97000518 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140791
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027569]
[ENSMUST00000189547]
|
AlphaFold |
Q8C0X7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000027569
|
SMART Domains |
Protein: ENSMUSP00000027569 Gene: ENSMUSG00000026331
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 |
probably null
Transcript: ENSMUST00000189547
|
SMART Domains |
Protein: ENSMUSP00000140791 Gene: ENSMUSG00000026331
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: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
92% (49/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700109H08Rik |
T |
A |
5: 3,630,442 (GRCm39) |
Y119* |
probably null |
Het |
Abcb9 |
C |
A |
5: 124,209,812 (GRCm39) |
E664* |
probably null |
Het |
Adgrl2 |
T |
C |
3: 148,564,578 (GRCm39) |
D334G |
probably damaging |
Het |
Ak9 |
T |
G |
10: 41,193,826 (GRCm39) |
C57G |
probably damaging |
Het |
Als2cl |
A |
G |
9: 110,724,952 (GRCm39) |
K809E |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atp11a |
A |
G |
8: 12,896,099 (GRCm39) |
I223V |
probably benign |
Het |
Cacna2d3 |
A |
T |
14: 28,630,278 (GRCm39) |
V1022E |
probably benign |
Het |
Cc2d1b |
C |
T |
4: 108,490,422 (GRCm39) |
R825W |
probably damaging |
Het |
Cd37 |
A |
G |
7: 44,886,598 (GRCm39) |
C85R |
probably damaging |
Het |
Ces1g |
T |
C |
8: 94,063,764 (GRCm39) |
S7G |
probably benign |
Het |
Cltc |
T |
C |
11: 86,611,188 (GRCm39) |
N561S |
probably benign |
Het |
Cnbd2 |
A |
G |
2: 156,217,494 (GRCm39) |
E661G |
possibly damaging |
Het |
Col6a3 |
A |
T |
1: 90,750,063 (GRCm39) |
F257Y |
probably damaging |
Het |
Cpt1b |
T |
C |
15: 89,309,037 (GRCm39) |
Y55C |
possibly damaging |
Het |
Csmd1 |
A |
G |
8: 15,976,611 (GRCm39) |
V2869A |
probably benign |
Het |
Dnah11 |
T |
C |
12: 118,143,482 (GRCm39) |
E387G |
probably benign |
Het |
Eny2 |
T |
A |
15: 44,292,949 (GRCm39) |
|
probably null |
Het |
Fbxo10 |
G |
T |
4: 45,043,857 (GRCm39) |
H655Q |
probably benign |
Het |
Gm14403 |
AAACCCTA |
AA |
2: 177,201,448 (GRCm39) |
|
probably benign |
Het |
Gpx2 |
C |
T |
12: 76,842,068 (GRCm39) |
G28S |
probably damaging |
Het |
H2-Q5 |
G |
T |
17: 35,613,918 (GRCm39) |
A156S |
probably benign |
Het |
Hoxd4 |
A |
G |
2: 74,558,807 (GRCm39) |
D210G |
possibly damaging |
Het |
Hoxd9 |
A |
G |
2: 74,529,166 (GRCm39) |
Q256R |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,346,085 (GRCm39) |
V2571A |
probably damaging |
Het |
Mtus1 |
A |
G |
8: 41,537,074 (GRCm39) |
V214A |
possibly damaging |
Het |
Myh1 |
C |
T |
11: 67,111,793 (GRCm39) |
A1716V |
probably benign |
Het |
Nbeal1 |
A |
G |
1: 60,261,287 (GRCm39) |
D249G |
probably damaging |
Het |
Nup54 |
TCTGCTGCTGCTGCTGCTGCTGCTG |
TCTGCTGCTGCTGCTGCTGCTG |
5: 92,578,663 (GRCm39) |
|
probably benign |
Het |
Or10v9 |
G |
T |
19: 11,833,148 (GRCm39) |
H56Q |
probably damaging |
Het |
Or4c124 |
A |
T |
2: 89,155,677 (GRCm39) |
N282K |
probably damaging |
Het |
Or5w17 |
C |
T |
2: 87,583,696 (GRCm39) |
V214I |
probably benign |
Het |
Or7a37 |
T |
G |
10: 78,805,974 (GRCm39) |
L164V |
probably damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Pramel23 |
T |
C |
4: 143,423,886 (GRCm39) |
Y301C |
possibly damaging |
Het |
Prss59 |
A |
G |
6: 40,897,939 (GRCm39) |
I248T |
probably benign |
Het |
Pwwp2a |
A |
G |
11: 43,595,423 (GRCm39) |
D196G |
probably benign |
Het |
Rarg |
A |
T |
15: 102,150,327 (GRCm39) |
C93S |
possibly damaging |
Het |
Rcc1 |
T |
C |
4: 132,065,073 (GRCm39) |
D150G |
possibly damaging |
Het |
Ripk2 |
A |
G |
4: 16,163,330 (GRCm39) |
Y23H |
probably damaging |
Het |
Rragc |
A |
G |
4: 123,811,340 (GRCm39) |
Y5C |
possibly damaging |
Het |
Rubcnl |
G |
A |
14: 75,269,369 (GRCm39) |
G9D |
probably damaging |
Het |
Sephs2 |
A |
T |
7: 126,872,073 (GRCm39) |
V340E |
probably damaging |
Het |
Slc22a3 |
C |
T |
17: 12,677,438 (GRCm39) |
M243I |
probably benign |
Het |
Sncaip |
T |
G |
18: 53,039,966 (GRCm39) |
I308R |
probably damaging |
Het |
Supt16 |
G |
A |
14: 52,408,338 (GRCm39) |
T869M |
probably damaging |
Het |
Tanc1 |
G |
A |
2: 59,674,366 (GRCm39) |
E1817K |
possibly damaging |
Het |
Usp4 |
C |
A |
9: 108,248,154 (GRCm39) |
Q395K |
probably damaging |
Het |
Usp49 |
T |
A |
17: 47,984,272 (GRCm39) |
S210T |
possibly damaging |
Het |
Virma |
A |
G |
4: 11,505,498 (GRCm39) |
I124M |
probably damaging |
Het |
Vmn1r234 |
G |
A |
17: 21,449,589 (GRCm39) |
V168I |
probably benign |
Het |
Vnn3 |
T |
A |
10: 23,732,187 (GRCm39) |
C146S |
probably damaging |
Het |
Ylpm1 |
A |
G |
12: 85,088,953 (GRCm39) |
D1234G |
probably damaging |
Het |
Zfp617 |
T |
A |
8: 72,687,098 (GRCm39) |
V476E |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTTAATCGTGTGTAGATACCTAC -3'
(R):5'- CTTGCATTAAAGAAGGATTGGCAG -3'
Sequencing Primer
(F):5'- AGTGAGACTAACTGTAGCATCTATAC -3'
(R):5'- AGGATTGGCAGCTTCAGATG -3'
|
Posted On |
2018-02-27 |