Incidental Mutation 'R1559:Slco6c1'
| ID |
170464 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco6c1
|
| Ensembl Gene |
ENSMUSG00000026331 |
| Gene Name |
solute carrier organic anion transporter family, member 6c1 |
| Synonyms |
4933404A18Rik |
| MMRRC Submission |
039598-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1559 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
96986763-97056026 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 97026223 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 334
(D334V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027569]
[ENSMUST00000189547]
|
| AlphaFold |
Q8C0X7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027569
AA Change: D351V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027569
Gene: ENSMUSG00000026331
AA Change: D351V
| 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 damaging
Transcript: ENSMUST00000189547
AA Change: D334V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140791
Gene: ENSMUSG00000026331
AA Change: D334V
| 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 |
0.6829 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.0%
- 20x: 84.8%
|
| Validation Efficiency |
95% (73/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,349,180 (GRCm39) |
W3585R |
probably null |
Het |
| Ajm1 |
G |
T |
2: 25,467,043 (GRCm39) |
S956* |
probably null |
Het |
| Babam1 |
G |
C |
8: 71,850,424 (GRCm39) |
E18Q |
probably damaging |
Het |
| Bcan |
G |
T |
3: 87,901,519 (GRCm39) |
S394R |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,999,232 (GRCm39) |
F4653L |
probably damaging |
Het |
| Camsap2 |
A |
T |
1: 136,209,832 (GRCm39) |
H559Q |
probably benign |
Het |
| Cars2 |
G |
T |
8: 11,580,430 (GRCm39) |
|
probably null |
Het |
| Ccdc93 |
T |
A |
1: 121,389,712 (GRCm39) |
|
probably benign |
Het |
| Ccna2 |
C |
A |
3: 36,624,879 (GRCm39) |
|
probably benign |
Het |
| Cdc6 |
T |
A |
11: 98,803,037 (GRCm39) |
L326I |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,255,478 (GRCm39) |
|
probably benign |
Het |
| Cenpe |
T |
A |
3: 134,976,661 (GRCm39) |
S2423T |
probably benign |
Het |
| Cftr |
A |
G |
6: 18,225,936 (GRCm39) |
M295V |
probably benign |
Het |
| Cxcl2 |
A |
G |
5: 91,051,871 (GRCm39) |
H23R |
probably benign |
Het |
| Cyp4a12b |
A |
G |
4: 115,291,181 (GRCm39) |
T370A |
probably damaging |
Het |
| Daam2 |
A |
G |
17: 49,803,148 (GRCm39) |
|
probably benign |
Het |
| Dclk3 |
T |
C |
9: 111,298,276 (GRCm39) |
F607L |
probably damaging |
Het |
| Des |
T |
G |
1: 75,337,230 (GRCm39) |
S57A |
probably benign |
Het |
| Drd1 |
A |
T |
13: 54,206,964 (GRCm39) |
S410T |
probably damaging |
Het |
| Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
| Fanci |
T |
C |
7: 79,082,941 (GRCm39) |
L639P |
probably damaging |
Het |
| Fancm |
A |
G |
12: 65,140,463 (GRCm39) |
E395G |
probably benign |
Het |
| Grik3 |
A |
G |
4: 125,601,790 (GRCm39) |
D889G |
probably benign |
Het |
| Heyl |
A |
G |
4: 123,135,192 (GRCm39) |
S62G |
probably damaging |
Het |
| Hmox1 |
C |
T |
8: 75,826,577 (GRCm39) |
P267L |
probably damaging |
Het |
| Ifi213 |
A |
C |
1: 173,394,784 (GRCm39) |
S584A |
probably benign |
Het |
| Il12rb2 |
G |
T |
6: 67,333,576 (GRCm39) |
F234L |
probably benign |
Het |
| Il4i1 |
T |
A |
7: 44,488,811 (GRCm39) |
S233T |
probably damaging |
Het |
| Itga4 |
A |
G |
2: 79,146,032 (GRCm39) |
S745G |
probably benign |
Het |
| Kalrn |
T |
A |
16: 33,830,918 (GRCm39) |
I734F |
possibly damaging |
Het |
| Klk1b16 |
T |
C |
7: 43,790,425 (GRCm39) |
I200T |
probably benign |
Het |
| Lrrc4c |
T |
A |
2: 97,461,117 (GRCm39) |
M581K |
probably benign |
Het |
| M6pr |
A |
T |
6: 122,292,033 (GRCm39) |
I122L |
probably benign |
Het |
| Magi3 |
T |
C |
3: 103,954,169 (GRCm39) |
|
probably benign |
Het |
| Mybpc2 |
T |
G |
7: 44,163,111 (GRCm39) |
T480P |
probably benign |
Het |
| Or14c44 |
T |
C |
7: 86,061,575 (GRCm39) |
S43P |
probably benign |
Het |
| Or1j17 |
A |
G |
2: 36,578,770 (GRCm39) |
Y252C |
probably damaging |
Het |
| Or51ab3 |
A |
T |
7: 103,201,372 (GRCm39) |
I127F |
possibly damaging |
Het |
| Or8g23 |
T |
C |
9: 38,971,437 (GRCm39) |
N175S |
probably benign |
Het |
| Pcx |
T |
A |
19: 4,669,114 (GRCm39) |
I704N |
probably damaging |
Het |
| Pde3a |
G |
T |
6: 141,404,824 (GRCm39) |
A350S |
probably damaging |
Het |
| Ppox |
A |
T |
1: 171,107,580 (GRCm39) |
|
probably benign |
Het |
| Prb1a |
T |
A |
6: 132,185,507 (GRCm39) |
Y42F |
unknown |
Het |
| Rsph4a |
T |
A |
10: 33,785,727 (GRCm39) |
V546E |
probably damaging |
Het |
| Saxo4 |
T |
C |
19: 10,458,770 (GRCm39) |
T87A |
probably benign |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Sh3tc1 |
A |
G |
5: 35,860,693 (GRCm39) |
|
probably null |
Het |
| Slc22a2 |
T |
C |
17: 12,803,298 (GRCm39) |
F44S |
probably damaging |
Het |
| Smim19 |
T |
C |
8: 22,953,352 (GRCm39) |
D105G |
probably damaging |
Het |
| Smpdl3a |
A |
G |
10: 57,683,588 (GRCm39) |
T233A |
probably damaging |
Het |
| St8sia5 |
G |
A |
18: 77,299,460 (GRCm39) |
|
probably null |
Het |
| Stk32a |
C |
A |
18: 43,376,149 (GRCm39) |
Q73K |
probably benign |
Het |
| Tmem129 |
G |
T |
5: 33,815,100 (GRCm39) |
|
probably null |
Het |
| Traf3ip3 |
A |
T |
1: 192,860,599 (GRCm39) |
L441Q |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,731,305 (GRCm39) |
|
probably benign |
Het |
| Unc45b |
T |
C |
11: 82,808,672 (GRCm39) |
S253P |
possibly damaging |
Het |
| Vars2 |
A |
G |
17: 35,977,150 (GRCm39) |
|
probably benign |
Het |
| Vmn2r51 |
C |
T |
7: 9,836,372 (GRCm39) |
M136I |
possibly damaging |
Het |
| Vmn2r51 |
A |
G |
7: 9,836,373 (GRCm39) |
M136T |
possibly damaging |
Het |
| Zfp595 |
T |
C |
13: 67,465,127 (GRCm39) |
I379V |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAATCGGACTAGAGCATTGGAAGG -3'
(R):5'- ACAAAGTACAACTGTTGTTGAAGAATTTGCAT -3'
Sequencing Primer
(F):5'- GTCTTTAGCATTATCAAAGAAGGGG -3'
(R):5'- ACATAACTCACTTTAACTTCCATGAC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation