Incidental Mutation 'IGL02186:Slco1b2'
ID |
283673 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slco1b2
|
Ensembl Gene |
ENSMUSG00000030236 |
Gene Name |
solute carrier organic anion transporter family, member 1b2 |
Synonyms |
Slc21a6, Oatp1b2, 7330442B20Rik, mlst-1, Slc21a10 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02186
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
141575244-141632372 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 141580271 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144747
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042812]
[ENSMUST00000203597]
|
AlphaFold |
Q9JJL3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042812
|
SMART Domains |
Protein: ENSMUSP00000044326 Gene: ENSMUSG00000030236
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
27 |
443 |
6.1e-21 |
PFAM |
KAZAL
|
457 |
501 |
8.81e-4 |
SMART |
transmembrane domain
|
620 |
642 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203597
|
SMART Domains |
Protein: ENSMUSP00000144747 Gene: ENSMUSG00000030236
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
27 |
405 |
8.4e-19 |
PFAM |
KAZAL
|
422 |
466 |
5.7e-6 |
SMART |
transmembrane domain
|
497 |
519 |
N/A |
INTRINSIC |
transmembrane domain
|
534 |
556 |
N/A |
INTRINSIC |
transmembrane domain
|
585 |
607 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. [provided by RefSeq, Feb 2012] PHENOTYPE: Mice homozygous for a null mutation display slight abnormalities in blood chemistry and are resistant to injury induced by some classes of hepatotoxins. [provided by MGI curators]
|
Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Targeted, other(2) |
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130230L23Rik |
A |
G |
5: 66,145,811 (GRCm39) |
F100S |
unknown |
Het |
Abca3 |
A |
G |
17: 24,596,714 (GRCm39) |
Y389C |
possibly damaging |
Het |
Acrbp |
G |
T |
6: 125,031,773 (GRCm39) |
|
probably null |
Het |
Adam21 |
G |
A |
12: 81,605,983 (GRCm39) |
T593I |
possibly damaging |
Het |
Adipor1 |
T |
A |
1: 134,353,698 (GRCm39) |
M161K |
probably benign |
Het |
Agrp |
A |
T |
8: 106,293,821 (GRCm39) |
N48K |
probably benign |
Het |
Asprv1 |
A |
T |
6: 86,605,900 (GRCm39) |
M249L |
probably damaging |
Het |
Begain |
A |
G |
12: 108,999,278 (GRCm39) |
Y703H |
probably damaging |
Het |
Bspry |
T |
A |
4: 62,414,226 (GRCm39) |
|
probably benign |
Het |
Cct8l1 |
T |
G |
5: 25,721,836 (GRCm39) |
S184A |
probably benign |
Het |
Cdk13 |
C |
T |
13: 17,947,112 (GRCm39) |
V549I |
probably benign |
Het |
Cdyl2 |
C |
T |
8: 117,306,025 (GRCm39) |
R412Q |
possibly damaging |
Het |
Celf6 |
T |
C |
9: 59,510,808 (GRCm39) |
S205P |
probably damaging |
Het |
Cltc |
G |
A |
11: 86,595,811 (GRCm39) |
A1263V |
possibly damaging |
Het |
Cltc |
C |
A |
11: 86,595,812 (GRCm39) |
A1263S |
possibly damaging |
Het |
Ctnnd2 |
T |
A |
15: 30,480,939 (GRCm39) |
F62L |
probably damaging |
Het |
Dlec1 |
T |
A |
9: 118,972,695 (GRCm39) |
C1473S |
probably benign |
Het |
Dmbt1 |
T |
A |
7: 130,694,986 (GRCm39) |
|
probably benign |
Het |
Dnase1 |
G |
A |
16: 3,856,896 (GRCm39) |
V176I |
probably benign |
Het |
Dusp1 |
G |
T |
17: 26,726,032 (GRCm39) |
Y220* |
probably null |
Het |
Enpp3 |
A |
C |
10: 24,667,881 (GRCm39) |
|
probably benign |
Het |
Exosc10 |
T |
C |
4: 148,649,755 (GRCm39) |
L395P |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,677,693 (GRCm39) |
K533R |
probably damaging |
Het |
Gcm2 |
T |
A |
13: 41,258,125 (GRCm39) |
T168S |
possibly damaging |
Het |
Gm9924 |
C |
A |
5: 31,252,491 (GRCm39) |
|
probably benign |
Het |
Ifrd1 |
A |
G |
12: 40,264,092 (GRCm39) |
V101A |
probably benign |
Het |
Iqsec1 |
G |
T |
6: 90,653,859 (GRCm39) |
Q629K |
probably damaging |
Het |
Kcnma1 |
T |
A |
14: 23,576,881 (GRCm39) |
M254L |
probably benign |
Het |
Krit1 |
T |
C |
5: 3,859,733 (GRCm39) |
|
probably benign |
Het |
Letm1 |
T |
C |
5: 33,902,391 (GRCm39) |
K633E |
probably benign |
Het |
Mfsd1 |
A |
G |
3: 67,503,928 (GRCm39) |
I307V |
probably benign |
Het |
Mtrr |
T |
C |
13: 68,712,476 (GRCm39) |
T637A |
probably benign |
Het |
Naxe |
C |
A |
3: 87,964,305 (GRCm39) |
D212Y |
probably damaging |
Het |
Nlk |
A |
T |
11: 78,477,762 (GRCm39) |
V327D |
probably damaging |
Het |
Or2f1b |
A |
G |
6: 42,739,880 (GRCm39) |
K298R |
probably null |
Het |
Or5w11 |
A |
T |
2: 87,459,715 (GRCm39) |
I187F |
probably benign |
Het |
Pdzd8 |
C |
T |
19: 59,289,060 (GRCm39) |
G780D |
probably damaging |
Het |
Prune1 |
T |
C |
3: 95,166,548 (GRCm39) |
|
probably benign |
Het |
Qser1 |
A |
T |
2: 104,618,606 (GRCm39) |
H645Q |
probably damaging |
Het |
Rd3l |
A |
G |
12: 111,945,901 (GRCm39) |
Y193H |
probably benign |
Het |
Reln |
A |
G |
5: 22,114,956 (GRCm39) |
Y3119H |
probably damaging |
Het |
Scel |
C |
T |
14: 103,802,257 (GRCm39) |
A219V |
probably benign |
Het |
Skint11 |
A |
T |
4: 114,101,833 (GRCm39) |
Q91L |
possibly damaging |
Het |
Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
Slc5a5 |
C |
A |
8: 71,338,764 (GRCm39) |
D516Y |
possibly damaging |
Het |
Slc8b1 |
G |
A |
5: 120,665,928 (GRCm39) |
|
probably null |
Het |
Slc9a3 |
A |
G |
13: 74,311,233 (GRCm39) |
E576G |
possibly damaging |
Het |
Smc5 |
A |
G |
19: 23,209,223 (GRCm39) |
V647A |
probably damaging |
Het |
Snph |
T |
C |
2: 151,436,263 (GRCm39) |
N222D |
possibly damaging |
Het |
Srbd1 |
A |
G |
17: 86,416,659 (GRCm39) |
F500L |
probably benign |
Het |
Stxbp6 |
T |
C |
12: 44,948,806 (GRCm39) |
D101G |
probably damaging |
Het |
Taar7b |
A |
G |
10: 23,875,879 (GRCm39) |
I15V |
probably benign |
Het |
Tdrd12 |
G |
T |
7: 35,200,826 (GRCm39) |
N338K |
probably damaging |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Tmem219 |
A |
T |
7: 126,495,988 (GRCm39) |
D128E |
probably benign |
Het |
Togaram2 |
A |
G |
17: 71,992,166 (GRCm39) |
T3A |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,724,627 (GRCm39) |
|
probably benign |
Het |
Uchl1 |
C |
A |
5: 66,834,382 (GRCm39) |
C47* |
probably null |
Het |
Unc79 |
T |
G |
12: 102,977,542 (GRCm39) |
S182A |
probably benign |
Het |
Vmn2r1 |
A |
G |
3: 63,989,138 (GRCm39) |
T26A |
probably benign |
Het |
Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
Vps54 |
T |
C |
11: 21,256,947 (GRCm39) |
V685A |
probably damaging |
Het |
Zcchc7 |
T |
G |
4: 44,762,250 (GRCm39) |
V126G |
possibly damaging |
Het |
Zmym2 |
A |
G |
14: 57,180,808 (GRCm39) |
T907A |
probably benign |
Het |
|
Other mutations in Slco1b2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00703:Slco1b2
|
APN |
6 |
141,601,078 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01583:Slco1b2
|
APN |
6 |
141,609,398 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL01909:Slco1b2
|
APN |
6 |
141,594,312 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01943:Slco1b2
|
APN |
6 |
141,622,012 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01952:Slco1b2
|
APN |
6 |
141,616,956 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02309:Slco1b2
|
APN |
6 |
141,618,007 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02352:Slco1b2
|
APN |
6 |
141,631,251 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02359:Slco1b2
|
APN |
6 |
141,631,251 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02524:Slco1b2
|
APN |
6 |
141,616,798 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02701:Slco1b2
|
APN |
6 |
141,631,271 (GRCm39) |
missense |
probably benign |
0.35 |
IGL02962:Slco1b2
|
APN |
6 |
141,594,279 (GRCm39) |
missense |
probably damaging |
0.99 |
3-1:Slco1b2
|
UTSW |
6 |
141,615,189 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03052:Slco1b2
|
UTSW |
6 |
141,594,311 (GRCm39) |
missense |
probably benign |
0.13 |
R0112:Slco1b2
|
UTSW |
6 |
141,616,837 (GRCm39) |
missense |
probably benign |
0.30 |
R0116:Slco1b2
|
UTSW |
6 |
141,615,114 (GRCm39) |
missense |
probably benign |
0.22 |
R0515:Slco1b2
|
UTSW |
6 |
141,615,136 (GRCm39) |
missense |
possibly damaging |
0.74 |
R0831:Slco1b2
|
UTSW |
6 |
141,631,172 (GRCm39) |
missense |
probably benign |
0.01 |
R0965:Slco1b2
|
UTSW |
6 |
141,631,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R1115:Slco1b2
|
UTSW |
6 |
141,628,980 (GRCm39) |
missense |
probably benign |
0.03 |
R1452:Slco1b2
|
UTSW |
6 |
141,617,926 (GRCm39) |
missense |
probably benign |
0.02 |
R1630:Slco1b2
|
UTSW |
6 |
141,602,547 (GRCm39) |
missense |
probably damaging |
0.99 |
R1885:Slco1b2
|
UTSW |
6 |
141,628,951 (GRCm39) |
missense |
probably damaging |
0.96 |
R1886:Slco1b2
|
UTSW |
6 |
141,628,951 (GRCm39) |
missense |
probably damaging |
0.96 |
R1975:Slco1b2
|
UTSW |
6 |
141,628,951 (GRCm39) |
missense |
probably damaging |
0.96 |
R2394:Slco1b2
|
UTSW |
6 |
141,615,100 (GRCm39) |
missense |
probably damaging |
0.99 |
R3408:Slco1b2
|
UTSW |
6 |
141,621,982 (GRCm39) |
missense |
probably benign |
0.01 |
R3793:Slco1b2
|
UTSW |
6 |
141,622,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R4560:Slco1b2
|
UTSW |
6 |
141,616,893 (GRCm39) |
missense |
probably benign |
0.15 |
R4561:Slco1b2
|
UTSW |
6 |
141,616,893 (GRCm39) |
missense |
probably benign |
0.15 |
R4563:Slco1b2
|
UTSW |
6 |
141,616,893 (GRCm39) |
missense |
probably benign |
0.15 |
R4807:Slco1b2
|
UTSW |
6 |
141,615,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R4820:Slco1b2
|
UTSW |
6 |
141,631,158 (GRCm39) |
missense |
probably benign |
0.05 |
R4861:Slco1b2
|
UTSW |
6 |
141,616,948 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4861:Slco1b2
|
UTSW |
6 |
141,616,948 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4889:Slco1b2
|
UTSW |
6 |
141,602,469 (GRCm39) |
intron |
probably benign |
|
R4914:Slco1b2
|
UTSW |
6 |
141,615,096 (GRCm39) |
missense |
probably benign |
0.14 |
R4918:Slco1b2
|
UTSW |
6 |
141,615,096 (GRCm39) |
missense |
probably benign |
0.14 |
R4977:Slco1b2
|
UTSW |
6 |
141,603,283 (GRCm39) |
missense |
probably benign |
0.01 |
R5607:Slco1b2
|
UTSW |
6 |
141,631,312 (GRCm39) |
missense |
probably benign |
|
R6082:Slco1b2
|
UTSW |
6 |
141,609,396 (GRCm39) |
missense |
probably benign |
0.08 |
R6118:Slco1b2
|
UTSW |
6 |
141,603,236 (GRCm39) |
missense |
probably benign |
0.03 |
R6522:Slco1b2
|
UTSW |
6 |
141,601,145 (GRCm39) |
critical splice donor site |
probably null |
|
R7054:Slco1b2
|
UTSW |
6 |
141,617,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R7182:Slco1b2
|
UTSW |
6 |
141,602,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R7763:Slco1b2
|
UTSW |
6 |
141,621,950 (GRCm39) |
nonsense |
probably null |
|
R8891:Slco1b2
|
UTSW |
6 |
141,628,993 (GRCm39) |
missense |
probably benign |
0.34 |
R8977:Slco1b2
|
UTSW |
6 |
141,628,980 (GRCm39) |
missense |
probably benign |
|
R9012:Slco1b2
|
UTSW |
6 |
141,602,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R9106:Slco1b2
|
UTSW |
6 |
141,617,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R9176:Slco1b2
|
UTSW |
6 |
141,598,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R9366:Slco1b2
|
UTSW |
6 |
141,602,552 (GRCm39) |
nonsense |
probably null |
|
R9425:Slco1b2
|
UTSW |
6 |
141,603,249 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9648:Slco1b2
|
UTSW |
6 |
141,602,655 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9652:Slco1b2
|
UTSW |
6 |
141,594,358 (GRCm39) |
critical splice donor site |
probably null |
|
R9798:Slco1b2
|
UTSW |
6 |
141,601,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |