Incidental Mutation 'IGL01952:Slco1b2'
ID |
181066 |
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 # |
IGL01952
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
141575244-141632372 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 141616956 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Valine
at position 430
(F430V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044326
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042812]
[ENSMUST00000203597]
|
AlphaFold |
Q9JJL3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042812
AA Change: F430V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000044326 Gene: ENSMUSG00000030236 AA Change: F430V
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Astl |
T |
C |
2: 127,184,398 (GRCm39) |
|
probably null |
Het |
Bod1l |
C |
T |
5: 41,974,297 (GRCm39) |
C2339Y |
possibly damaging |
Het |
Celsr1 |
T |
A |
15: 85,847,424 (GRCm39) |
I1438F |
probably benign |
Het |
Dbr1 |
T |
A |
9: 99,464,465 (GRCm39) |
N297K |
possibly damaging |
Het |
Dmxl1 |
A |
G |
18: 50,023,721 (GRCm39) |
H1668R |
probably benign |
Het |
Dnai3 |
T |
C |
3: 145,802,918 (GRCm39) |
H91R |
probably damaging |
Het |
Dnajb11 |
A |
G |
16: 22,684,250 (GRCm39) |
E91G |
probably damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Grin2d |
C |
A |
7: 45,511,704 (GRCm39) |
R247L |
probably benign |
Het |
Gzf1 |
G |
A |
2: 148,525,981 (GRCm39) |
A151T |
probably benign |
Het |
Hacl1 |
C |
T |
14: 31,363,079 (GRCm39) |
|
probably benign |
Het |
Hivep2 |
C |
A |
10: 14,018,075 (GRCm39) |
T1854K |
possibly damaging |
Het |
Htr1d |
T |
C |
4: 136,170,872 (GRCm39) |
V367A |
probably benign |
Het |
Ifi208 |
T |
C |
1: 173,506,597 (GRCm39) |
S127P |
possibly damaging |
Het |
Ifngr2 |
C |
T |
16: 91,356,876 (GRCm39) |
P137S |
probably damaging |
Het |
Lcn9 |
T |
C |
2: 25,714,550 (GRCm39) |
L138P |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,723,657 (GRCm39) |
V2531A |
possibly damaging |
Het |
Meioc |
A |
T |
11: 102,563,011 (GRCm39) |
I70F |
possibly damaging |
Het |
Mideas |
G |
A |
12: 84,220,040 (GRCm39) |
P305S |
probably benign |
Het |
Mlph |
A |
C |
1: 90,861,193 (GRCm39) |
D276A |
probably benign |
Het |
Myh1 |
T |
A |
11: 67,111,218 (GRCm39) |
|
probably null |
Het |
Nlrp9a |
G |
A |
7: 26,257,444 (GRCm39) |
S265N |
probably benign |
Het |
Ofcc1 |
G |
A |
13: 40,434,337 (GRCm39) |
A22V |
probably damaging |
Het |
Or11j4 |
T |
A |
14: 50,630,860 (GRCm39) |
F216I |
probably benign |
Het |
Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
Prlr |
A |
G |
15: 10,328,428 (GRCm39) |
D301G |
possibly damaging |
Het |
Ptk2 |
T |
C |
15: 73,101,780 (GRCm39) |
E810G |
probably damaging |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Supt6 |
T |
C |
11: 78,116,586 (GRCm39) |
K646R |
probably benign |
Het |
Tmem260 |
C |
T |
14: 48,709,933 (GRCm39) |
A52V |
probably damaging |
Het |
Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
Tulp1 |
G |
A |
17: 28,575,398 (GRCm39) |
T103M |
probably damaging |
Het |
Vwa5b1 |
G |
A |
4: 138,308,528 (GRCm39) |
P770S |
probably benign |
Het |
Zfp639 |
A |
G |
3: 32,569,496 (GRCm39) |
Y18C |
probably damaging |
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 |
IGL02186:Slco1b2
|
APN |
6 |
141,580,271 (GRCm39) |
splice site |
probably benign |
|
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 |
2014-05-07 |