Incidental Mutation 'R7383:Slco6c1'
| ID |
572843 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco6c1
|
| Ensembl Gene |
ENSMUSG00000026331 |
| Gene Name |
solute carrier organic anion transporter family, member 6c1 |
| Synonyms |
4933404A18Rik |
| MMRRC Submission |
045465-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7383 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
96986763-97056026 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 97003608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 513
(Y513*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027569
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027569]
[ENSMUST00000189547]
|
| AlphaFold |
Q8C0X7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027569
AA Change: Y513*
|
| SMART Domains |
Protein: ENSMUSP00000027569
Gene: ENSMUSG00000026331
AA Change: Y513*
| 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
AA Change: Y496*
|
| SMART Domains |
Protein: ENSMUSP00000140791
Gene: ENSMUSG00000026331
AA Change: Y496*
| 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: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp1 |
T |
A |
11: 5,818,548 (GRCm39) |
I511N |
probably damaging |
Het |
| Ap5m1 |
T |
G |
14: 49,311,653 (GRCm39) |
V241G |
possibly damaging |
Het |
| BC049715 |
T |
A |
6: 136,817,453 (GRCm39) |
I231N |
probably damaging |
Het |
| Bckdhb |
T |
G |
9: 83,835,766 (GRCm39) |
V90G |
possibly damaging |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Chd8 |
T |
C |
14: 52,452,776 (GRCm39) |
I1248V |
probably damaging |
Het |
| Ckap2l |
A |
T |
2: 129,111,172 (GRCm39) |
M675K |
possibly damaging |
Het |
| Ckap4 |
A |
T |
10: 84,364,148 (GRCm39) |
V305E |
probably damaging |
Het |
| Clasrp |
C |
A |
7: 19,319,198 (GRCm39) |
R489L |
unknown |
Het |
| Col24a1 |
A |
G |
3: 145,004,599 (GRCm39) |
I26V |
probably benign |
Het |
| Cort |
C |
T |
4: 149,209,861 (GRCm39) |
A64T |
possibly damaging |
Het |
| Dmkn |
T |
A |
7: 30,464,793 (GRCm39) |
N255K |
unknown |
Het |
| Dph2 |
A |
T |
4: 117,748,566 (GRCm39) |
L69Q |
probably damaging |
Het |
| Fbxo11 |
A |
G |
17: 88,310,282 (GRCm39) |
I432T |
|
Het |
| Fgd3 |
T |
C |
13: 49,421,785 (GRCm39) |
K531R |
possibly damaging |
Het |
| Fgd5 |
A |
G |
6: 91,964,099 (GRCm39) |
K111E |
probably benign |
Het |
| Gdf6 |
T |
A |
4: 9,859,537 (GRCm39) |
D206E |
probably benign |
Het |
| Gtpbp1 |
T |
A |
15: 79,600,354 (GRCm39) |
L429Q |
probably damaging |
Het |
| Hk2 |
A |
G |
6: 82,726,276 (GRCm39) |
F90S |
probably damaging |
Het |
| Hrnr |
A |
T |
3: 93,239,098 (GRCm39) |
Q3112L |
unknown |
Het |
| Hsd17b4 |
A |
C |
18: 50,297,917 (GRCm39) |
K402T |
probably benign |
Het |
| Htr1f |
T |
C |
16: 64,747,206 (GRCm39) |
T29A |
probably benign |
Het |
| Ikbkb |
C |
A |
8: 23,159,066 (GRCm39) |
A471S |
probably benign |
Het |
| Inpp5f |
A |
G |
7: 128,296,310 (GRCm39) |
D887G |
probably damaging |
Het |
| Ipo9 |
A |
G |
1: 135,316,411 (GRCm39) |
L805P |
probably damaging |
Het |
| Jmjd1c |
A |
T |
10: 67,025,537 (GRCm39) |
N118I |
probably benign |
Het |
| Kif26b |
T |
G |
1: 178,358,275 (GRCm39) |
C129G |
probably damaging |
Het |
| Mga |
G |
A |
2: 119,790,821 (GRCm39) |
A2236T |
probably damaging |
Het |
| Micu2 |
T |
C |
14: 58,154,810 (GRCm39) |
Q405R |
possibly damaging |
Het |
| Myo1e |
T |
A |
9: 70,204,577 (GRCm39) |
V59D |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,552,532 (GRCm39) |
I1770T |
probably damaging |
Het |
| Ndufa10 |
A |
T |
1: 92,392,183 (GRCm39) |
I190N |
probably damaging |
Het |
| Niban3 |
A |
C |
8: 72,056,470 (GRCm39) |
E390A |
possibly damaging |
Het |
| Npat |
T |
A |
9: 53,474,078 (GRCm39) |
H623Q |
probably benign |
Het |
| Npc1l1 |
T |
C |
11: 6,167,777 (GRCm39) |
T1005A |
probably benign |
Het |
| Or10ag58 |
A |
G |
2: 87,265,721 (GRCm39) |
S297G |
possibly damaging |
Het |
| Or14c39 |
A |
T |
7: 86,343,960 (GRCm39) |
I99F |
probably damaging |
Het |
| Or1e22 |
A |
G |
11: 73,376,715 (GRCm39) |
*312Q |
probably null |
Het |
| Or2b4 |
A |
G |
17: 38,116,972 (GRCm39) |
K312R |
probably benign |
Het |
| Or2w3 |
T |
C |
11: 58,557,011 (GRCm39) |
S209P |
possibly damaging |
Het |
| Or5t7 |
A |
G |
2: 86,507,263 (GRCm39) |
V138A |
possibly damaging |
Het |
| Or8s8 |
C |
G |
15: 98,354,578 (GRCm39) |
P129R |
probably damaging |
Het |
| Pafah1b2 |
C |
T |
9: 45,880,147 (GRCm39) |
G177R |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,300,317 (GRCm39) |
S521P |
unknown |
Het |
| Plpp2 |
A |
T |
10: 79,366,841 (GRCm39) |
L25Q |
probably null |
Het |
| Plxna4 |
A |
G |
6: 32,129,734 (GRCm39) |
|
probably null |
Het |
| Ppl |
G |
T |
16: 4,915,835 (GRCm39) |
P576Q |
probably damaging |
Het |
| Rab38 |
T |
C |
7: 88,079,637 (GRCm39) |
Y10H |
possibly damaging |
Het |
| Rbfox1 |
G |
A |
16: 6,887,899 (GRCm39) |
G13S |
probably benign |
Het |
| Rhot1 |
C |
G |
11: 80,114,760 (GRCm39) |
P56R |
probably damaging |
Het |
| Sipa1l2 |
A |
G |
8: 126,174,385 (GRCm39) |
W1298R |
probably damaging |
Het |
| Slc16a14 |
G |
A |
1: 84,890,292 (GRCm39) |
H338Y |
probably damaging |
Het |
| Slc8a3 |
T |
G |
12: 81,362,579 (GRCm39) |
Y80S |
probably damaging |
Het |
| Smarcd2 |
A |
G |
11: 106,155,602 (GRCm39) |
C405R |
probably damaging |
Het |
| Szt2 |
G |
A |
4: 118,222,411 (GRCm39) |
R3198* |
probably null |
Het |
| Tmeff1 |
T |
A |
4: 48,636,841 (GRCm39) |
C180S |
probably damaging |
Het |
| Tmem132a |
A |
T |
19: 10,844,358 (GRCm39) |
M80K |
probably benign |
Het |
| Tnfsf12 |
A |
G |
11: 69,577,892 (GRCm39) |
V175A |
probably damaging |
Het |
| Tnpo2 |
G |
A |
8: 85,776,748 (GRCm39) |
R485H |
probably damaging |
Het |
| Togaram2 |
A |
T |
17: 72,007,512 (GRCm39) |
I354F |
probably damaging |
Het |
| Uchl5 |
T |
A |
1: 143,659,753 (GRCm39) |
S42R |
probably benign |
Het |
| Virma |
C |
A |
4: 11,514,026 (GRCm39) |
L627I |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,240,684 (GRCm39) |
I143K |
probably benign |
Het |
| Vmn2r95 |
T |
G |
17: 18,660,734 (GRCm39) |
V382G |
probably benign |
Het |
| Wipf3 |
G |
T |
6: 54,462,263 (GRCm39) |
A158S |
probably benign |
Het |
| Ylpm1 |
T |
G |
12: 85,091,242 (GRCm39) |
S1809A |
possibly damaging |
Het |
| Zdhhc5 |
A |
T |
2: 84,524,748 (GRCm39) |
C191S |
probably benign |
Het |
| Zer1 |
G |
A |
2: 30,001,253 (GRCm39) |
R84C |
probably damaging |
Het |
| Zfhx2 |
A |
T |
14: 55,305,710 (GRCm39) |
V991D |
probably benign |
Het |
| Zscan4b |
C |
A |
7: 10,637,960 (GRCm39) |
M61I |
possibly damaging |
Het |
| Zswim2 |
A |
T |
2: 83,745,672 (GRCm39) |
S589T |
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 |
|
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'- TGAGTGACGTTCTTGCATGTAAAAG -3'
(R):5'- GATGGAACTTGTGGATATCTAATGTAC -3'
Sequencing Primer
(F):5'- CAAAGTACAGTGGGTGTTGC -3'
(R):5'- ACAGCTGACTGCAATGAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation