Incidental Mutation 'R6286:Slco6c1'
| ID |
508213 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco6c1
|
| Ensembl Gene |
ENSMUSG00000026331 |
| Gene Name |
solute carrier organic anion transporter family, member 6c1 |
| Synonyms |
4933404A18Rik |
| MMRRC Submission |
044456-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6286 (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 A
at 97053445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 152
(H152L)
|
| 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: H152L
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000027569
Gene: ENSMUSG00000026331
AA Change: H152L
| 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: H152L
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140791
Gene: ENSMUSG00000026331
AA Change: H152L
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alk |
T |
A |
17: 72,187,842 (GRCm39) |
M1300L |
probably damaging |
Het |
| C3 |
A |
T |
17: 57,531,118 (GRCm39) |
I356N |
probably damaging |
Het |
| Cntnap5b |
T |
A |
1: 100,182,798 (GRCm39) |
S276T |
possibly damaging |
Het |
| Cts7 |
C |
T |
13: 61,500,584 (GRCm39) |
G321E |
probably damaging |
Het |
| Cyp11a1 |
G |
A |
9: 57,924,701 (GRCm39) |
|
probably benign |
Het |
| Ddx4 |
T |
C |
13: 112,750,269 (GRCm39) |
T421A |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,078,049 (GRCm39) |
T694A |
probably damaging |
Het |
| Eif3b |
G |
T |
5: 140,405,566 (GRCm39) |
D151Y |
probably damaging |
Het |
| Fhad1 |
T |
A |
4: 141,648,209 (GRCm39) |
E219V |
probably damaging |
Het |
| Gdf2 |
C |
T |
14: 33,667,057 (GRCm39) |
R260C |
probably damaging |
Het |
| Gm14295 |
T |
C |
2: 176,501,361 (GRCm39) |
Y284H |
possibly damaging |
Het |
| Gm45861 |
A |
G |
8: 28,019,619 (GRCm39) |
T745A |
unknown |
Het |
| Grin2a |
G |
A |
16: 9,579,639 (GRCm39) |
T208I |
possibly damaging |
Het |
| Ide |
T |
A |
19: 37,255,409 (GRCm39) |
Y798F |
unknown |
Het |
| Llgl1 |
G |
A |
11: 60,600,358 (GRCm39) |
G569D |
probably damaging |
Het |
| Mrpl9 |
G |
C |
3: 94,351,097 (GRCm39) |
E92D |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,555,685 (GRCm39) |
H3536L |
unknown |
Het |
| Nasp |
T |
C |
4: 116,461,985 (GRCm39) |
Y526C |
probably damaging |
Het |
| Nfx1 |
A |
G |
4: 40,986,728 (GRCm39) |
N404D |
probably damaging |
Het |
| Nsrp1 |
A |
G |
11: 76,940,269 (GRCm39) |
I112T |
probably damaging |
Het |
| Or6c7 |
T |
C |
10: 129,323,497 (GRCm39) |
L206P |
probably damaging |
Het |
| Or8b8 |
A |
T |
9: 37,809,074 (GRCm39) |
I125F |
probably damaging |
Het |
| Oxsr1 |
A |
G |
9: 119,093,948 (GRCm39) |
V235A |
probably damaging |
Het |
| Pamr1 |
C |
T |
2: 102,471,293 (GRCm39) |
Q539* |
probably null |
Het |
| Pramel20 |
T |
A |
4: 143,297,796 (GRCm39) |
V72D |
probably benign |
Het |
| Ptpn4 |
A |
G |
1: 119,649,592 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
C |
T |
10: 58,315,394 (GRCm39) |
A2038V |
probably benign |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Septin5 |
A |
G |
16: 18,442,127 (GRCm39) |
V253A |
probably damaging |
Het |
| Skic3 |
T |
C |
13: 76,291,359 (GRCm39) |
L993P |
probably damaging |
Het |
| Slc22a13 |
C |
A |
9: 119,037,778 (GRCm39) |
E117* |
probably null |
Het |
| Slc9c1 |
T |
C |
16: 45,398,194 (GRCm39) |
I653T |
probably benign |
Het |
| Sp2 |
A |
C |
11: 96,852,372 (GRCm39) |
V184G |
probably benign |
Het |
| Taok1 |
T |
A |
11: 77,444,599 (GRCm39) |
H492L |
probably benign |
Het |
| Tas2r110 |
G |
A |
6: 132,845,490 (GRCm39) |
D174N |
probably benign |
Het |
| Trim24 |
G |
A |
6: 37,896,426 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
A |
2: 76,581,321 (GRCm39) |
R21445* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,605,967 (GRCm39) |
Y16502H |
probably damaging |
Het |
| Vmn2r84 |
A |
C |
10: 130,226,737 (GRCm39) |
M367R |
possibly damaging |
Het |
| Zfp46 |
T |
C |
4: 136,018,320 (GRCm39) |
S385P |
probably 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 |
|
|
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'- AGAGCTACAGGTAGTTACTAAGTGTTG -3'
(R):5'- AGAGGGTTCAAATGTAGTTGATCTC -3'
Sequencing Primer
(F):5'- GGATACACAGATATACCCCACTATC -3'
(R):5'- GTAGTTGATCTCTATGACTACT -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation