Incidental Mutation 'R6940:Slco6c1'
| ID |
540476 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco6c1
|
| Ensembl Gene |
ENSMUSG00000026331 |
| Gene Name |
solute carrier organic anion transporter family, member 6c1 |
| Synonyms |
4933404A18Rik |
| MMRRC Submission |
045054-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6940 (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 C
at 97000626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 542
(T542A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027569]
[ENSMUST00000189547]
|
| AlphaFold |
Q8C0X7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027569
AA Change: T559A
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027569
Gene: ENSMUSG00000026331
AA Change: T559A
| 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: T542A
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140791
Gene: ENSMUSG00000026331
AA Change: T542A
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
C |
A |
9: 54,516,381 (GRCm39) |
A667S |
probably benign |
Het |
| Ank2 |
G |
A |
3: 126,735,621 (GRCm39) |
|
probably benign |
Het |
| Arhgef28 |
A |
G |
13: 98,102,038 (GRCm39) |
L812P |
possibly damaging |
Het |
| Armc5 |
C |
T |
7: 127,839,470 (GRCm39) |
R263* |
probably null |
Het |
| Cadps2 |
A |
T |
6: 23,302,491 (GRCm39) |
V740E |
probably damaging |
Het |
| Cckbr |
T |
C |
7: 105,084,103 (GRCm39) |
V279A |
probably benign |
Het |
| Cd101 |
T |
C |
3: 100,911,018 (GRCm39) |
D880G |
probably damaging |
Het |
| Cep350 |
A |
T |
1: 155,804,297 (GRCm39) |
S929T |
probably benign |
Het |
| Chaf1b |
G |
A |
16: 93,702,853 (GRCm39) |
R556H |
probably benign |
Het |
| Csn1s1 |
A |
T |
5: 87,822,882 (GRCm39) |
Q69L |
possibly damaging |
Het |
| Dennd1b |
T |
C |
1: 138,981,155 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
T |
C |
12: 118,162,503 (GRCm39) |
D22G |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,670,836 (GRCm39) |
H472R |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,158,428 (GRCm39) |
R337H |
probably benign |
Het |
| Eif2ak3 |
T |
C |
6: 70,869,386 (GRCm39) |
V691A |
possibly damaging |
Het |
| Ern2 |
T |
C |
7: 121,785,369 (GRCm39) |
R3G |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,828,096 (GRCm39) |
|
probably null |
Het |
| Fnbp4 |
T |
C |
2: 90,575,858 (GRCm39) |
F20L |
unknown |
Het |
| Gtf2b |
C |
A |
3: 142,484,016 (GRCm39) |
D63E |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,217,243 (GRCm39) |
Y1377C |
probably damaging |
Het |
| Klf1 |
A |
G |
8: 85,628,724 (GRCm39) |
T41A |
possibly damaging |
Het |
| Lce3d |
G |
A |
3: 92,865,541 (GRCm39) |
S52N |
unknown |
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Lrrfip1 |
T |
A |
1: 91,050,135 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
A |
C |
7: 27,008,369 (GRCm39) |
V1313G |
probably damaging |
Het |
| Morc1 |
C |
A |
16: 48,300,208 (GRCm39) |
S235* |
probably null |
Het |
| Mr1 |
T |
G |
1: 155,005,014 (GRCm39) |
*342S |
probably null |
Het |
| Muc21 |
C |
A |
17: 35,934,118 (GRCm39) |
|
probably benign |
Het |
| Nol4l |
T |
A |
2: 153,253,684 (GRCm39) |
S630C |
probably benign |
Het |
| Nr4a3 |
C |
T |
4: 48,051,486 (GRCm39) |
P80L |
probably benign |
Het |
| Or51a43 |
A |
G |
7: 103,717,620 (GRCm39) |
I206T |
possibly damaging |
Het |
| Otof |
A |
G |
5: 30,528,987 (GRCm39) |
V1807A |
probably damaging |
Het |
| Pde5a |
T |
A |
3: 122,572,681 (GRCm39) |
V354E |
possibly damaging |
Het |
| Pmfbp1 |
A |
T |
8: 110,251,823 (GRCm39) |
E355D |
probably damaging |
Het |
| Ppp2r2c |
A |
G |
5: 37,084,875 (GRCm39) |
D112G |
probably damaging |
Het |
| Prkacb |
A |
T |
3: 146,457,254 (GRCm39) |
I37N |
probably damaging |
Het |
| Prox2 |
T |
C |
12: 85,141,348 (GRCm39) |
D285G |
probably benign |
Het |
| Ranbp3l |
A |
G |
15: 9,041,792 (GRCm39) |
S61G |
probably benign |
Het |
| Rnf214 |
T |
A |
9: 45,802,196 (GRCm39) |
T289S |
probably damaging |
Het |
| Rnf217 |
G |
T |
10: 31,381,973 (GRCm39) |
|
probably null |
Het |
| Sc5d |
A |
T |
9: 42,166,723 (GRCm39) |
M272K |
probably benign |
Het |
| Sord |
T |
A |
2: 122,094,536 (GRCm39) |
I308N |
probably damaging |
Het |
| Syvn1 |
A |
T |
19: 6,101,214 (GRCm39) |
|
probably benign |
Het |
| Tas2r134 |
A |
G |
2: 51,518,148 (GRCm39) |
H209R |
probably benign |
Het |
| Trak1 |
T |
C |
9: 121,272,784 (GRCm39) |
V214A |
possibly damaging |
Het |
| Trpm5 |
C |
A |
7: 142,638,547 (GRCm39) |
E322* |
probably null |
Het |
| Ttf2 |
T |
C |
3: 100,876,831 (GRCm39) |
T17A |
probably damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,316,343 (GRCm39) |
E492G |
probably benign |
Het |
| Xndc1 |
T |
C |
7: 101,727,094 (GRCm39) |
V161A |
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 |
|
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 |
|
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'- CTGTTCCTTAATCGTGTGTAGATACC -3'
(R):5'- TGCTGGGAAATCTCTGTTGGATAC -3'
Sequencing Primer
(F):5'- AGTGAGACTAACTGTAGCATCTATAC -3'
(R):5'- GGCTATTATCTCCTGGTTCT -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation