Incidental Mutation 'R2101:Slco6c1'
| ID |
230473 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco6c1
|
| Ensembl Gene |
ENSMUSG00000026331 |
| Gene Name |
solute carrier organic anion transporter family, member 6c1 |
| Synonyms |
4933404A18Rik |
| MMRRC Submission |
040105-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2101 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
96986763-97056026 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 97000595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 552
(L552*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027569]
[ENSMUST00000189547]
|
| AlphaFold |
Q8C0X7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027569
AA Change: L569*
|
| SMART Domains |
Protein: ENSMUSP00000027569
Gene: ENSMUSG00000026331
AA Change: L569*
| 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: L552*
|
| SMART Domains |
Protein: ENSMUSP00000140791
Gene: ENSMUSG00000026331
AA Change: L552*
| 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 |
0.9712 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
G |
A |
2: 103,397,207 (GRCm39) |
A46T |
probably benign |
Het |
| Agap3 |
T |
A |
5: 24,692,797 (GRCm39) |
L47Q |
probably damaging |
Het |
| Apaf1 |
T |
G |
10: 90,895,942 (GRCm39) |
I377L |
probably benign |
Het |
| Astn2 |
G |
A |
4: 65,499,923 (GRCm39) |
R937* |
probably null |
Het |
| Cacnb1 |
A |
C |
11: 97,896,554 (GRCm39) |
V369G |
probably damaging |
Het |
| Cdc42bpa |
G |
T |
1: 179,974,533 (GRCm39) |
V1464L |
probably benign |
Het |
| Cdkn2aip |
A |
T |
8: 48,166,036 (GRCm39) |
M90K |
probably damaging |
Het |
| Chd3 |
A |
T |
11: 69,239,877 (GRCm39) |
D1650E |
probably benign |
Het |
| Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,783,699 (GRCm39) |
T639A |
probably damaging |
Het |
| Cluh |
G |
T |
11: 74,551,328 (GRCm39) |
|
probably benign |
Het |
| Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
| Col11a2 |
A |
T |
17: 34,271,143 (GRCm39) |
D528V |
probably damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,133,270 (GRCm39) |
L810P |
probably damaging |
Het |
| D430041D05Rik |
A |
G |
2: 103,979,175 (GRCm39) |
V2084A |
probably damaging |
Het |
| Dcc |
G |
A |
18: 71,943,941 (GRCm39) |
H237Y |
possibly damaging |
Het |
| Ddx60 |
T |
A |
8: 62,393,679 (GRCm39) |
F38L |
probably damaging |
Het |
| Dio2 |
T |
C |
12: 90,696,597 (GRCm39) |
*130W |
probably null |
Het |
| Dock5 |
G |
T |
14: 68,031,459 (GRCm39) |
F990L |
probably benign |
Het |
| Dpy19l1 |
A |
T |
9: 24,393,331 (GRCm39) |
V146E |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,411,549 (GRCm39) |
T1776A |
probably benign |
Het |
| Enpep |
C |
T |
3: 129,092,587 (GRCm39) |
S532N |
probably benign |
Het |
| Gdf6 |
A |
G |
4: 9,860,025 (GRCm39) |
D369G |
probably damaging |
Het |
| Gtf2b |
T |
C |
3: 142,477,144 (GRCm39) |
|
probably benign |
Het |
| Hmbox1 |
A |
G |
14: 65,066,028 (GRCm39) |
|
probably benign |
Het |
| Hps3 |
C |
A |
3: 20,066,947 (GRCm39) |
V540F |
possibly damaging |
Het |
| Hsd3b6 |
T |
A |
3: 98,713,553 (GRCm39) |
I249F |
possibly damaging |
Het |
| Hunk |
T |
A |
16: 90,229,388 (GRCm39) |
|
probably null |
Het |
| Kidins220 |
T |
A |
12: 25,107,422 (GRCm39) |
L1625Q |
probably damaging |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Myo10 |
T |
A |
15: 25,722,345 (GRCm39) |
L186Q |
probably benign |
Het |
| N4bp2 |
T |
A |
5: 65,948,224 (GRCm39) |
W285R |
probably damaging |
Het |
| Nat8l |
T |
C |
5: 34,155,716 (GRCm39) |
L124P |
probably damaging |
Het |
| Nemp2 |
T |
C |
1: 52,680,225 (GRCm39) |
|
probably null |
Het |
| Nkain2 |
G |
A |
10: 32,205,813 (GRCm39) |
T74I |
possibly damaging |
Het |
| Nol4 |
A |
G |
18: 22,956,466 (GRCm39) |
S239P |
probably damaging |
Het |
| Or4c118 |
T |
A |
2: 88,975,301 (GRCm39) |
E22V |
probably benign |
Het |
| Pcbp3 |
T |
C |
10: 76,625,589 (GRCm39) |
I152V |
possibly damaging |
Het |
| Pcp4l1 |
G |
T |
1: 171,003,174 (GRCm39) |
P10Q |
probably damaging |
Het |
| Pla1a |
T |
C |
16: 38,235,730 (GRCm39) |
N135D |
probably damaging |
Het |
| Plb1 |
T |
A |
5: 32,507,004 (GRCm39) |
M1193K |
probably damaging |
Het |
| Prc1 |
T |
C |
7: 79,962,032 (GRCm39) |
V73A |
probably benign |
Het |
| Prkd2 |
T |
A |
7: 16,603,490 (GRCm39) |
W807R |
probably damaging |
Het |
| Prp2rt |
G |
T |
13: 97,235,730 (GRCm39) |
R6S |
probably damaging |
Het |
| Ptprb |
C |
T |
10: 116,150,943 (GRCm39) |
|
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,319,559 (GRCm39) |
I993V |
probably benign |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,704,092 (GRCm39) |
V2046A |
probably benign |
Het |
| Rnpep |
G |
T |
1: 135,199,355 (GRCm39) |
N334K |
probably damaging |
Het |
| Sarm1 |
G |
A |
11: 78,366,115 (GRCm39) |
P695S |
probably damaging |
Het |
| Sf3a3 |
C |
T |
4: 124,612,136 (GRCm39) |
T131I |
possibly damaging |
Het |
| Slc38a10 |
A |
T |
11: 120,023,567 (GRCm39) |
V283E |
probably damaging |
Het |
| Tas2r136 |
T |
C |
6: 132,754,495 (GRCm39) |
M211V |
probably benign |
Het |
| Tax1bp3 |
G |
A |
11: 73,071,947 (GRCm39) |
D65N |
probably damaging |
Het |
| Tdrd5 |
A |
G |
1: 156,129,209 (GRCm39) |
F167S |
probably damaging |
Het |
| Tfeb |
G |
A |
17: 48,100,590 (GRCm39) |
V269M |
probably damaging |
Het |
| Tspan12 |
A |
T |
6: 21,799,887 (GRCm39) |
F153L |
probably benign |
Het |
| Txnrd1 |
T |
G |
10: 82,717,573 (GRCm39) |
L186V |
probably damaging |
Het |
| Upk1b |
A |
T |
16: 38,600,499 (GRCm39) |
C160* |
probably null |
Het |
| Uty |
T |
C |
Y: 1,176,541 (GRCm39) |
Q172R |
probably damaging |
Het |
| Vmn1r23 |
T |
C |
6: 57,903,437 (GRCm39) |
K114E |
possibly damaging |
Het |
| Vmn2r99 |
T |
G |
17: 19,598,253 (GRCm39) |
N92K |
probably damaging |
Het |
| Vstm2a |
T |
A |
11: 16,213,191 (GRCm39) |
M192K |
probably benign |
Het |
| Zc3h12c |
A |
G |
9: 52,027,721 (GRCm39) |
V547A |
probably benign |
Het |
| Zfp944 |
T |
A |
17: 22,558,809 (GRCm39) |
N146I |
probably benign |
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 |
|
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'- CTGTTCCTTAATCGTGTGTAGATAC -3'
(R):5'- GCTGGGAAATCTCTGTTGGATAC -3'
Sequencing Primer
(F):5'- AGTGAGACTAACTGTAGCATCTATAC -3'
(R):5'- AGGCTATTATCTCCTGGTTC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation