Incidental Mutation 'R6649:Slco6c1'
| ID |
527665 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco6c1
|
| Ensembl Gene |
ENSMUSG00000026331 |
| Gene Name |
solute carrier organic anion transporter family, member 6c1 |
| Synonyms |
4933404A18Rik |
| MMRRC Submission |
044770-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6649 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
96986763-97056026 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 97053436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 155
(S155N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027569]
[ENSMUST00000189547]
|
| AlphaFold |
Q8C0X7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027569
AA Change: S155N
PolyPhen 2
Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000027569
Gene: ENSMUSG00000026331
AA Change: S155N
| 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 benign
Transcript: ENSMUST00000189547
AA Change: S155N
PolyPhen 2
Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000140791
Gene: ENSMUSG00000026331
AA Change: S155N
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
A |
19: 43,800,941 (GRCm39) |
H627Q |
probably benign |
Het |
| Abra |
G |
A |
15: 41,732,629 (GRCm39) |
L146F |
probably benign |
Het |
| Adamts7 |
T |
C |
9: 90,073,990 (GRCm39) |
C857R |
probably damaging |
Het |
| Ankhd1 |
A |
T |
18: 36,733,836 (GRCm39) |
|
probably null |
Het |
| Asb15 |
A |
G |
6: 24,562,632 (GRCm39) |
N198S |
probably benign |
Het |
| Asb16 |
A |
T |
11: 102,159,863 (GRCm39) |
Q72L |
possibly damaging |
Het |
| Atosa |
T |
G |
9: 74,917,432 (GRCm39) |
L677R |
probably damaging |
Het |
| Bbox1 |
G |
T |
2: 110,135,914 (GRCm39) |
H22N |
probably benign |
Het |
| Bcdin3d |
T |
C |
15: 99,368,696 (GRCm39) |
T168A |
probably damaging |
Het |
| Bmp1 |
A |
T |
14: 70,728,058 (GRCm39) |
W624R |
probably damaging |
Het |
| Cdh18 |
A |
T |
15: 23,436,620 (GRCm39) |
Y492F |
possibly damaging |
Het |
| Cep290 |
A |
C |
10: 100,354,393 (GRCm39) |
D848A |
probably benign |
Het |
| Cip2a |
A |
T |
16: 48,837,829 (GRCm39) |
Q843L |
probably damaging |
Het |
| Cmya5 |
G |
C |
13: 93,234,533 (GRCm39) |
S185C |
possibly damaging |
Het |
| Cops9 |
C |
T |
1: 92,568,136 (GRCm39) |
|
probably benign |
Het |
| Cutal |
C |
T |
2: 34,775,933 (GRCm39) |
T88I |
probably benign |
Het |
| Dlg4 |
G |
T |
11: 69,914,779 (GRCm39) |
|
probably benign |
Het |
| Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
| Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
| Erp44 |
T |
C |
4: 48,205,130 (GRCm39) |
I288V |
probably null |
Het |
| Fat3 |
T |
C |
9: 16,288,038 (GRCm39) |
D495G |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,798,161 (GRCm39) |
V485A |
possibly damaging |
Het |
| Gm14496 |
A |
T |
2: 181,639,269 (GRCm39) |
H453L |
possibly damaging |
Het |
| Gm17027 |
T |
C |
14: 41,981,236 (GRCm39) |
T207A |
unknown |
Het |
| Gm6902 |
T |
G |
7: 22,973,159 (GRCm39) |
T123P |
possibly damaging |
Het |
| Gpat2 |
T |
G |
2: 127,274,355 (GRCm39) |
W366G |
possibly damaging |
Het |
| Heatr6 |
A |
T |
11: 83,650,191 (GRCm39) |
T216S |
probably benign |
Het |
| Hsd17b14 |
T |
C |
7: 45,205,500 (GRCm39) |
V11A |
probably damaging |
Het |
| Jak2 |
T |
A |
19: 29,266,110 (GRCm39) |
I517N |
probably benign |
Het |
| Kmt5b |
G |
A |
19: 3,857,295 (GRCm39) |
G351R |
probably damaging |
Het |
| Mau2 |
G |
T |
8: 70,484,166 (GRCm39) |
Q141K |
possibly damaging |
Het |
| Mfsd13a |
T |
C |
19: 46,356,305 (GRCm39) |
F137L |
probably damaging |
Het |
| Mfsd13a |
A |
G |
19: 46,360,704 (GRCm39) |
H394R |
probably benign |
Het |
| Mfsd14b |
A |
T |
13: 65,214,599 (GRCm39) |
I451N |
probably damaging |
Het |
| Milr1 |
C |
T |
11: 106,648,537 (GRCm39) |
H143Y |
probably benign |
Het |
| Mon2 |
T |
G |
10: 122,874,385 (GRCm39) |
K321T |
possibly damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,070,747 (GRCm39) |
N945Y |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,882,527 (GRCm39) |
R60G |
possibly damaging |
Het |
| Or2z2 |
A |
T |
11: 58,346,394 (GRCm39) |
I127N |
probably damaging |
Het |
| Or52b2 |
T |
C |
7: 104,986,914 (GRCm39) |
H3R |
probably benign |
Het |
| Or8g20 |
A |
G |
9: 39,396,048 (GRCm39) |
V164A |
probably benign |
Het |
| Papola |
A |
T |
12: 105,778,566 (GRCm39) |
I315L |
possibly damaging |
Het |
| Phf3 |
A |
T |
1: 30,844,104 (GRCm39) |
S1618R |
possibly damaging |
Het |
| Phyhipl |
A |
G |
10: 70,404,843 (GRCm39) |
F77L |
probably damaging |
Het |
| Ppp3cb |
A |
G |
14: 20,581,094 (GRCm39) |
L110P |
probably damaging |
Het |
| Prss53 |
T |
G |
7: 127,485,747 (GRCm39) |
E531A |
probably benign |
Het |
| Raf1 |
A |
T |
6: 115,608,302 (GRCm39) |
H236Q |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,610,529 (GRCm39) |
V4099A |
probably damaging |
Het |
| Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
| Sh3pxd2b |
T |
C |
11: 32,365,978 (GRCm39) |
|
probably null |
Het |
| Speer4f2 |
A |
G |
5: 17,580,767 (GRCm39) |
T115A |
probably benign |
Het |
| Spry1 |
T |
C |
3: 37,696,871 (GRCm39) |
I38T |
probably damaging |
Het |
| Tagap |
T |
C |
17: 8,152,546 (GRCm39) |
V577A |
probably benign |
Het |
| Ubr4 |
C |
A |
4: 139,200,935 (GRCm39) |
H4706Q |
possibly damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,820,160 (GRCm39) |
L11Q |
probably null |
Het |
| Zfp60 |
T |
C |
7: 27,448,151 (GRCm39) |
F273S |
probably benign |
Het |
| Zfp938 |
A |
T |
10: 82,061,232 (GRCm39) |
Y463N |
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 |
|
|
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 |
|
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'- GAGCTACAGGTAGTTACTAAGTGTTG -3'
(R):5'- AGAGGGTTCAAATGTAGTTGATCTC -3'
Sequencing Primer
(F):5'- GGATACACAGATATACCCCACTATC -3'
(R):5'- GATCTCTATGACTACTAATACAGGT -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation