Incidental Mutation 'R7234:Slco6c1'
| ID |
562672 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco6c1
|
| Ensembl Gene |
ENSMUSG00000026331 |
| Gene Name |
solute carrier organic anion transporter family, member 6c1 |
| Synonyms |
4933404A18Rik |
| MMRRC Submission |
045304-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7234 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
96986763-97056026 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97053466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 145
(V145A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027569
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027569]
[ENSMUST00000189547]
|
| AlphaFold |
Q8C0X7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027569
AA Change: V145A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000027569
Gene: ENSMUSG00000026331
AA Change: V145A
| 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: V145A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000140791
Gene: ENSMUSG00000026331
AA Change: V145A
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy3 |
T |
A |
19: 4,037,758 (GRCm39) |
Y88* |
probably null |
Het |
| AI606181 |
T |
A |
19: 41,582,076 (GRCm39) |
I82N |
unknown |
Het |
| Akap1 |
T |
C |
11: 88,729,808 (GRCm39) |
Y638C |
probably damaging |
Het |
| Angpt1 |
T |
C |
15: 42,323,121 (GRCm39) |
N383D |
probably benign |
Het |
| Ank |
T |
C |
15: 27,571,742 (GRCm39) |
|
probably null |
Het |
| Aoc1 |
C |
T |
6: 48,882,750 (GRCm39) |
Q209* |
probably null |
Het |
| Apol7c |
A |
T |
15: 77,409,875 (GRCm39) |
L357* |
probably null |
Het |
| Atxn2l |
A |
G |
7: 126,092,373 (GRCm39) |
L958P |
probably damaging |
Het |
| Cab39l |
T |
A |
14: 59,734,395 (GRCm39) |
|
probably null |
Het |
| Cdk5rap2 |
A |
G |
4: 70,295,024 (GRCm39) |
|
probably null |
Het |
| Cdkn3 |
T |
C |
14: 47,008,918 (GRCm39) |
S204P |
unknown |
Het |
| Cds2 |
T |
C |
2: 132,146,400 (GRCm39) |
|
probably null |
Het |
| Cideb |
C |
T |
14: 55,992,017 (GRCm39) |
R179H |
probably benign |
Het |
| Cped1 |
A |
G |
6: 22,254,625 (GRCm39) |
Q1006R |
probably damaging |
Het |
| Csmd2 |
A |
G |
4: 128,350,572 (GRCm39) |
Y1547C |
|
Het |
| Dicer1 |
A |
G |
12: 104,675,108 (GRCm39) |
L718S |
probably damaging |
Het |
| Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
| Dyrk2 |
T |
C |
10: 118,696,136 (GRCm39) |
H374R |
possibly damaging |
Het |
| Edem2 |
A |
T |
2: 155,552,886 (GRCm39) |
Y283N |
probably benign |
Het |
| Ero1b |
A |
T |
13: 12,615,203 (GRCm39) |
S345C |
possibly damaging |
Het |
| Fam83g |
T |
C |
11: 61,593,342 (GRCm39) |
V292A |
possibly damaging |
Het |
| Farp2 |
A |
G |
1: 93,507,841 (GRCm39) |
D513G |
possibly damaging |
Het |
| Fbxl5 |
A |
G |
5: 43,915,562 (GRCm39) |
W617R |
probably benign |
Het |
| Fzd7 |
G |
A |
1: 59,522,443 (GRCm39) |
V109M |
probably damaging |
Het |
| Gbp5 |
A |
T |
3: 142,226,898 (GRCm39) |
H583L |
probably benign |
Het |
| Gm10306 |
T |
A |
4: 94,445,032 (GRCm39) |
L84M |
unknown |
Het |
| Gsap |
A |
G |
5: 21,391,433 (GRCm39) |
T25A |
probably benign |
Het |
| Hectd4 |
G |
T |
5: 121,467,136 (GRCm39) |
R2466L |
possibly damaging |
Het |
| Ide |
C |
A |
19: 37,268,184 (GRCm39) |
C557F |
|
Het |
| Ift70a2 |
A |
T |
2: 75,806,540 (GRCm39) |
Y657* |
probably null |
Het |
| Igdcc4 |
T |
A |
9: 65,042,750 (GRCm39) |
C1234* |
probably null |
Het |
| Ints4 |
A |
G |
7: 97,179,507 (GRCm39) |
I701V |
probably benign |
Het |
| Kalrn |
T |
A |
16: 33,996,792 (GRCm39) |
I1467F |
possibly damaging |
Het |
| Kcnip3 |
C |
A |
2: 127,363,256 (GRCm39) |
R2M |
unknown |
Het |
| Kcnrg |
A |
T |
14: 61,845,531 (GRCm39) |
E190D |
unknown |
Het |
| Klk13 |
T |
C |
7: 43,370,841 (GRCm39) |
L131P |
probably damaging |
Het |
| Lhcgr |
A |
T |
17: 89,099,359 (GRCm39) |
L14Q |
possibly damaging |
Het |
| Mdm4 |
A |
T |
1: 132,938,853 (GRCm39) |
D80E |
probably damaging |
Het |
| Mib2 |
G |
T |
4: 155,742,350 (GRCm39) |
Q311K |
probably damaging |
Het |
| Msantd5f9 |
G |
T |
4: 73,835,808 (GRCm39) |
L219M |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,452,773 (GRCm39) |
S1703T |
probably damaging |
Het |
| Naip6 |
A |
T |
13: 100,452,011 (GRCm39) |
C200* |
probably null |
Het |
| Ncapd3 |
T |
A |
9: 26,961,655 (GRCm39) |
I361N |
probably damaging |
Het |
| Nom1 |
A |
G |
5: 29,640,451 (GRCm39) |
E259G |
probably benign |
Het |
| Or10j5 |
T |
A |
1: 172,784,673 (GRCm39) |
F104I |
probably damaging |
Het |
| Or51v14 |
A |
G |
7: 103,261,089 (GRCm39) |
L157P |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,488,698 (GRCm39) |
H1658L |
probably damaging |
Het |
| Ranbp6 |
T |
C |
19: 29,789,462 (GRCm39) |
T297A |
possibly damaging |
Het |
| Rap1gap |
T |
A |
4: 137,455,851 (GRCm39) |
C722* |
probably null |
Het |
| Ribc2 |
A |
G |
15: 85,019,733 (GRCm39) |
K172E |
probably benign |
Het |
| Scamp5 |
C |
A |
9: 57,354,423 (GRCm39) |
W77L |
probably damaging |
Het |
| Scin |
T |
A |
12: 40,130,957 (GRCm39) |
K319* |
probably null |
Het |
| Sec16a |
G |
T |
2: 26,329,780 (GRCm39) |
T745K |
probably damaging |
Het |
| Slc15a2 |
G |
A |
16: 36,578,173 (GRCm39) |
A403V |
probably benign |
Het |
| Sncaip |
C |
T |
18: 53,048,416 (GRCm39) |
H951Y |
probably benign |
Het |
| Spem1 |
A |
G |
11: 69,712,630 (GRCm39) |
|
probably null |
Het |
| Spen |
C |
T |
4: 141,206,446 (GRCm39) |
R727Q |
unknown |
Het |
| Thra |
T |
C |
11: 98,654,544 (GRCm39) |
S305P |
probably damaging |
Het |
| Tlr1 |
A |
G |
5: 65,084,067 (GRCm39) |
V170A |
probably damaging |
Het |
| Tmem260 |
T |
A |
14: 48,742,786 (GRCm39) |
C388* |
probably null |
Het |
| Tmem60 |
T |
A |
5: 21,091,619 (GRCm39) |
V128D |
possibly damaging |
Het |
| Tpo |
G |
A |
12: 30,142,685 (GRCm39) |
P680S |
probably benign |
Het |
| Umodl1 |
A |
G |
17: 31,205,595 (GRCm39) |
E730G |
possibly damaging |
Het |
| Vmn2r69 |
T |
C |
7: 85,056,315 (GRCm39) |
T608A |
probably benign |
Het |
| Xrra1 |
G |
A |
7: 99,563,456 (GRCm39) |
S481N |
possibly damaging |
Het |
| Zc3h4 |
G |
A |
7: 16,162,961 (GRCm39) |
V446I |
unknown |
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 |
|
|
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'- AGCTACAGGTAGTTACTAAGTGTTG -3'
(R):5'- AGAGGGTTCAAATGTAGTTGATCTC -3'
Sequencing Primer
(F):5'- GGATACACAGATATACCCCACTATC -3'
(R):5'- GATCTCTATGACTACTAATACAGGT -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation