Incidental Mutation 'R9403:Slco6c1'
| ID |
711326 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco6c1
|
| Ensembl Gene |
ENSMUSG00000026331 |
| Gene Name |
solute carrier organic anion transporter family, member 6c1 |
| Synonyms |
4933404A18Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9403 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
97059038-97128301 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 97062523 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 664
(S664R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027569
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027569]
[ENSMUST00000189547]
|
| AlphaFold |
Q8C0X7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027569
AA Change: S664R
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000027569
Gene: ENSMUSG00000026331
AA Change: S664R
| 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: S647R
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000140791
Gene: ENSMUSG00000026331
AA Change: S647R
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angpt4 |
C |
T |
2: 151,938,972 (GRCm38) |
T380M |
probably damaging |
Het |
| Apoa5 |
G |
C |
9: 46,270,646 (GRCm38) |
R340P |
probably damaging |
Het |
| Cyp3a41a |
T |
A |
5: 145,702,198 (GRCm38) |
Y320F |
probably damaging |
Het |
| Dmtf1 |
A |
G |
5: 9,121,927 (GRCm38) |
L503S |
possibly damaging |
Het |
| Dock1 |
T |
C |
7: 135,168,396 (GRCm38) |
V1795A |
probably benign |
Het |
| Dpys |
C |
G |
15: 39,828,071 (GRCm38) |
W285S |
probably damaging |
Het |
| Fam187b |
T |
C |
7: 30,977,090 (GRCm38) |
V8A |
|
Het |
| Fbn2 |
T |
C |
18: 58,066,107 (GRCm38) |
E1363G |
probably damaging |
Het |
| Glg1 |
C |
T |
8: 111,187,793 (GRCm38) |
R453Q |
probably benign |
Het |
| Gm5591 |
T |
A |
7: 38,520,148 (GRCm38) |
M434L |
probably benign |
Het |
| Gm5591 |
T |
C |
7: 38,522,256 (GRCm38) |
T130A |
probably damaging |
Het |
| Gpld1 |
G |
A |
13: 24,979,729 (GRCm38) |
V502I |
probably benign |
Het |
| Inhba |
A |
G |
13: 16,017,381 (GRCm38) |
H29R |
probably benign |
Het |
| Itga4 |
T |
A |
2: 79,325,660 (GRCm38) |
I990N |
possibly damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,543,077 (GRCm38) |
I280L |
probably benign |
Het |
| Malrd1 |
T |
C |
2: 15,614,177 (GRCm38) |
V284A |
|
Het |
| Maml2 |
C |
T |
9: 13,621,673 (GRCm38) |
Q728* |
probably null |
Het |
| Mkln1 |
T |
C |
6: 31,432,970 (GRCm38) |
L181P |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,580,204 (GRCm38) |
|
probably null |
Het |
| Muc16 |
A |
G |
9: 18,537,764 (GRCm38) |
|
probably null |
Het |
| Mylk |
C |
A |
16: 34,875,642 (GRCm38) |
S249* |
probably null |
Het |
| Naa35 |
G |
A |
13: 59,601,003 (GRCm38) |
A150T |
possibly damaging |
Het |
| Naip5 |
T |
A |
13: 100,219,830 (GRCm38) |
E1092D |
probably benign |
Het |
| Nup205 |
G |
A |
6: 35,199,974 (GRCm38) |
R635H |
probably benign |
Het |
| Nup50l |
T |
G |
6: 96,165,299 (GRCm38) |
T255P |
probably benign |
Het |
| Or2w1 |
T |
C |
13: 21,133,695 (GRCm38) |
F307L |
probably benign |
Het |
| Or4l1 |
T |
C |
14: 49,929,449 (GRCm38) |
T32A |
probably benign |
Het |
| Padi3 |
T |
C |
4: 140,810,532 (GRCm38) |
I26V |
probably benign |
Het |
| Polq |
T |
C |
16: 37,061,853 (GRCm38) |
S1460P |
probably benign |
Het |
| Ptgdr |
A |
G |
14: 44,853,258 (GRCm38) |
S348P |
|
Het |
| Qsox1 |
A |
G |
1: 155,782,597 (GRCm38) |
S409P |
probably damaging |
Het |
| Rergl |
T |
A |
6: 139,494,854 (GRCm38) |
Y99F |
possibly damaging |
Het |
| Rptn |
C |
A |
3: 93,395,042 (GRCm38) |
H22N |
probably benign |
Het |
| Semp2l2b |
C |
T |
10: 22,067,941 (GRCm38) |
D47N |
possibly damaging |
Het |
| Sh2b1 |
ACCAGCTCAGCCACGGGG |
ACCAGCTCAGCCACGGGGCCCAGCTCAGCCACGGGG |
7: 126,467,575 (GRCm38) |
|
probably benign |
Het |
| Sh2b1 |
GGACCAGCTCAG |
GGACCAGCTCAGTCACGGTGACCAGCTCAG |
7: 126,467,573 (GRCm38) |
|
probably null |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,467,570 (GRCm38) |
|
probably benign |
Het |
| Slc2a3 |
A |
C |
6: 122,736,610 (GRCm38) |
I214M |
probably damaging |
Het |
| Slc5a7 |
A |
T |
17: 54,276,641 (GRCm38) |
N540K |
probably benign |
Het |
| Tgm4 |
C |
A |
9: 123,052,772 (GRCm38) |
S344R |
probably damaging |
Het |
| Trim61 |
T |
A |
8: 65,014,576 (GRCm38) |
Q11L |
probably damaging |
Het |
| Trpm6 |
C |
A |
19: 18,832,652 (GRCm38) |
D1137E |
possibly damaging |
Het |
| Txndc2 |
G |
A |
17: 65,637,997 (GRCm38) |
T395I |
probably damaging |
Het |
| Txndc9 |
T |
C |
1: 37,995,778 (GRCm38) |
E15G |
probably benign |
Het |
| Vcpip1 |
A |
G |
1: 9,745,824 (GRCm38) |
I778T |
possibly damaging |
Het |
| Zfp383 |
T |
C |
7: 29,915,259 (GRCm38) |
F313S |
possibly damaging |
Het |
|
| Other mutations in Slco6c1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00547:Slco6c1
|
APN |
1 |
97,087,949 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00571:Slco6c1
|
APN |
1 |
97,087,951 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL01483:Slco6c1
|
APN |
1 |
97,128,107 (GRCm38) |
missense |
probably benign |
|
|
IGL01543:Slco6c1
|
APN |
1 |
97,125,828 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01860:Slco6c1
|
APN |
1 |
97,075,823 (GRCm38) |
splice site |
probably benign |
|
|
IGL03106:Slco6c1
|
APN |
1 |
97,066,023 (GRCm38) |
splice site |
probably benign |
|
|
R0087:Slco6c1
|
UTSW |
1 |
97,118,578 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0543:Slco6c1
|
UTSW |
1 |
97,127,898 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0674:Slco6c1
|
UTSW |
1 |
97,104,773 (GRCm38) |
splice site |
probably benign |
|
|
R0826:Slco6c1
|
UTSW |
1 |
97,128,101 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0928:Slco6c1
|
UTSW |
1 |
97,104,848 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R0969:Slco6c1
|
UTSW |
1 |
97,119,960 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1366:Slco6c1
|
UTSW |
1 |
97,128,203 (GRCm38) |
start gained |
probably null |
|
|
R1559:Slco6c1
|
UTSW |
1 |
97,098,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1594:Slco6c1
|
UTSW |
1 |
97,062,438 (GRCm38) |
missense |
probably benign |
0.36 |
|
R1901:Slco6c1
|
UTSW |
1 |
97,072,982 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2005:Slco6c1
|
UTSW |
1 |
97,081,489 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2101:Slco6c1
|
UTSW |
1 |
97,072,870 (GRCm38) |
nonsense |
probably null |
|
|
R2102:Slco6c1
|
UTSW |
1 |
97,127,931 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2120:Slco6c1
|
UTSW |
1 |
97,066,083 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R2135:Slco6c1
|
UTSW |
1 |
97,104,817 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2295:Slco6c1
|
UTSW |
1 |
97,125,748 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2437:Slco6c1
|
UTSW |
1 |
97,062,476 (GRCm38) |
missense |
probably benign |
0.22 |
|
R4004:Slco6c1
|
UTSW |
1 |
97,075,885 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4133:Slco6c1
|
UTSW |
1 |
97,081,493 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4643:Slco6c1
|
UTSW |
1 |
97,062,424 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4786:Slco6c1
|
UTSW |
1 |
97,087,995 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4942:Slco6c1
|
UTSW |
1 |
97,081,324 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5485:Slco6c1
|
UTSW |
1 |
97,125,756 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5573:Slco6c1
|
UTSW |
1 |
97,127,931 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5810:Slco6c1
|
UTSW |
1 |
97,075,873 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6033:Slco6c1
|
UTSW |
1 |
97,081,316 (GRCm38) |
splice site |
probably null |
|
|
R6033:Slco6c1
|
UTSW |
1 |
97,081,316 (GRCm38) |
splice site |
probably null |
|
|
R6191:Slco6c1
|
UTSW |
1 |
97,066,083 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R6197:Slco6c1
|
UTSW |
1 |
97,072,793 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6286:Slco6c1
|
UTSW |
1 |
97,125,720 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6404:Slco6c1
|
UTSW |
1 |
97,118,605 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6430:Slco6c1
|
UTSW |
1 |
97,075,974 (GRCm38) |
missense |
probably benign |
0.43 |
|
R6492:Slco6c1
|
UTSW |
1 |
97,125,813 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6649:Slco6c1
|
UTSW |
1 |
97,125,711 (GRCm38) |
missense |
probably benign |
0.44 |
|
R6940:Slco6c1
|
UTSW |
1 |
97,072,901 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R7138:Slco6c1
|
UTSW |
1 |
97,119,981 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7213:Slco6c1
|
UTSW |
1 |
97,127,946 (GRCm38) |
missense |
probably benign |
|
|
R7234:Slco6c1
|
UTSW |
1 |
97,125,741 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7320:Slco6c1
|
UTSW |
1 |
97,128,162 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R7375:Slco6c1
|
UTSW |
1 |
97,081,421 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R7383:Slco6c1
|
UTSW |
1 |
97,075,883 (GRCm38) |
nonsense |
probably null |
|
|
R7422:Slco6c1
|
UTSW |
1 |
97,081,482 (GRCm38) |
missense |
probably benign |
0.17 |
|
R7491:Slco6c1
|
UTSW |
1 |
97,127,854 (GRCm38) |
missense |
probably benign |
0.32 |
|
R7561:Slco6c1
|
UTSW |
1 |
97,072,966 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7890:Slco6c1
|
UTSW |
1 |
97,062,467 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R8115:Slco6c1
|
UTSW |
1 |
97,072,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8409:Slco6c1
|
UTSW |
1 |
97,075,938 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8422:Slco6c1
|
UTSW |
1 |
97,125,783 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8824:Slco6c1
|
UTSW |
1 |
97,128,159 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R8905:Slco6c1
|
UTSW |
1 |
97,125,666 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R9183:Slco6c1
|
UTSW |
1 |
97,069,050 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9300:Slco6c1
|
UTSW |
1 |
97,066,084 (GRCm38) |
missense |
probably benign |
0.37 |
|
R9359:Slco6c1
|
UTSW |
1 |
97,062,523 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9374:Slco6c1
|
UTSW |
1 |
97,128,102 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9499:Slco6c1
|
UTSW |
1 |
97,128,102 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9551:Slco6c1
|
UTSW |
1 |
97,128,102 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9674:Slco6c1
|
UTSW |
1 |
97,119,840 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATATTCCATTGACAAAGTGAAAGT -3'
(R):5'- TAGACATTACATCTGTGAGCTATATGA -3'
Sequencing Primer
(F):5'- GTTTTGCTCTCAGTGATTTC -3'
(R):5'- TGAAAAAGTGTGTAAGCATG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation