Incidental Mutation 'IGL00493:Ugt2b1'
ID |
6416 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ugt2b1
|
Ensembl Gene |
ENSMUSG00000035836 |
Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B1 |
Synonyms |
1300012D20Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
IGL00493
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
87064498-87074362 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87073817 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 181
(C181R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031183
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031183]
|
AlphaFold |
Q8R084 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031183
AA Change: C181R
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000031183 Gene: ENSMUSG00000035836 AA Change: C181R
Domain | Start | End | E-Value | Type |
Pfam:UDPGT
|
24 |
527 |
4.7e-260 |
PFAM |
Pfam:Glyco_tran_28_C
|
343 |
454 |
1.7e-7 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000102029
|
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 member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Copy number variation in this gene is associated with susceptibility to osteoporosis.[provided by RefSeq, Apr 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb2 |
A |
G |
13: 8,751,761 (GRCm39) |
T509A |
probably benign |
Het |
Arhgap23 |
T |
C |
11: 97,337,379 (GRCm39) |
|
probably null |
Het |
Astn1 |
A |
T |
1: 158,427,889 (GRCm39) |
I687F |
possibly damaging |
Het |
Atg4d |
T |
C |
9: 21,178,217 (GRCm39) |
F112L |
probably damaging |
Het |
Bltp3b |
A |
C |
10: 89,615,846 (GRCm39) |
D163A |
probably damaging |
Het |
Cd200 |
T |
A |
16: 45,217,409 (GRCm39) |
D94V |
probably damaging |
Het |
Cfap46 |
T |
C |
7: 139,194,359 (GRCm39) |
K2285R |
probably benign |
Het |
Clhc1 |
T |
A |
11: 29,521,745 (GRCm39) |
I426N |
probably damaging |
Het |
Cnnm2 |
T |
A |
19: 46,751,659 (GRCm39) |
V483E |
probably damaging |
Het |
Dennd2b |
G |
A |
7: 109,126,915 (GRCm39) |
A932V |
possibly damaging |
Het |
Dlc1 |
A |
T |
8: 37,037,436 (GRCm39) |
|
probably benign |
Het |
Fpgs |
T |
C |
2: 32,578,009 (GRCm39) |
I138V |
possibly damaging |
Het |
Gpr152 |
T |
C |
19: 4,193,506 (GRCm39) |
V349A |
probably benign |
Het |
Hk1 |
C |
A |
10: 62,122,127 (GRCm39) |
E523* |
probably null |
Het |
Ift70a1 |
C |
A |
2: 75,812,085 (GRCm39) |
|
probably benign |
Het |
Krt6a |
T |
G |
15: 101,601,229 (GRCm39) |
K241N |
probably damaging |
Het |
Mcm3ap |
A |
G |
10: 76,307,011 (GRCm39) |
S375G |
probably benign |
Het |
Meikin |
C |
T |
11: 54,289,320 (GRCm39) |
P231L |
probably damaging |
Het |
Micall1 |
G |
A |
15: 78,999,221 (GRCm39) |
|
probably benign |
Het |
Mvk |
G |
A |
5: 114,583,502 (GRCm39) |
V14I |
probably benign |
Het |
Myo6 |
C |
T |
9: 80,199,754 (GRCm39) |
S1021L |
probably damaging |
Het |
N4bp2l2 |
G |
A |
5: 150,585,401 (GRCm39) |
T193M |
probably benign |
Het |
Naip5 |
G |
T |
13: 100,367,279 (GRCm39) |
D272E |
probably damaging |
Het |
Nptn |
T |
A |
9: 58,550,922 (GRCm39) |
N316K |
probably damaging |
Het |
Pde6c |
T |
C |
19: 38,151,324 (GRCm39) |
|
probably benign |
Het |
Prg4 |
T |
A |
1: 150,327,671 (GRCm39) |
I850L |
probably damaging |
Het |
Rdm1 |
T |
G |
11: 101,526,580 (GRCm39) |
C251G |
possibly damaging |
Het |
Relch |
A |
G |
1: 105,624,324 (GRCm39) |
|
probably benign |
Het |
Rps6kl1 |
G |
A |
12: 85,186,157 (GRCm39) |
P291L |
probably benign |
Het |
Sel1l |
A |
G |
12: 91,781,387 (GRCm39) |
|
probably benign |
Het |
Serpinb1b |
T |
C |
13: 33,277,850 (GRCm39) |
F361S |
probably damaging |
Het |
Sirpb1a |
G |
A |
3: 15,475,788 (GRCm39) |
|
probably benign |
Het |
Smpd1 |
T |
G |
7: 105,205,848 (GRCm39) |
V405G |
probably damaging |
Het |
Spmip11 |
T |
C |
15: 98,486,425 (GRCm39) |
|
probably benign |
Het |
Tead3 |
T |
C |
17: 28,551,780 (GRCm39) |
T438A |
possibly damaging |
Het |
Treh |
A |
T |
9: 44,595,197 (GRCm39) |
D89V |
probably damaging |
Het |
Trim10 |
A |
T |
17: 37,188,140 (GRCm39) |
H452L |
probably benign |
Het |
Xdh |
A |
T |
17: 74,230,101 (GRCm39) |
F277I |
possibly damaging |
Het |
Zswim4 |
T |
G |
8: 84,938,769 (GRCm39) |
T1038P |
probably damaging |
Het |
|
Other mutations in Ugt2b1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00556:Ugt2b1
|
APN |
5 |
87,074,055 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02591:Ugt2b1
|
APN |
5 |
87,065,563 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02795:Ugt2b1
|
APN |
5 |
87,065,560 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02993:Ugt2b1
|
APN |
5 |
87,069,850 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL03057:Ugt2b1
|
APN |
5 |
87,074,200 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL03084:Ugt2b1
|
APN |
5 |
87,074,243 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4531001:Ugt2b1
|
UTSW |
5 |
87,074,342 (GRCm39) |
missense |
probably benign |
0.00 |
R0125:Ugt2b1
|
UTSW |
5 |
87,073,961 (GRCm39) |
missense |
probably benign |
|
R0480:Ugt2b1
|
UTSW |
5 |
87,074,315 (GRCm39) |
missense |
probably benign |
0.00 |
R0551:Ugt2b1
|
UTSW |
5 |
87,073,943 (GRCm39) |
missense |
probably benign |
0.01 |
R0601:Ugt2b1
|
UTSW |
5 |
87,065,539 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0626:Ugt2b1
|
UTSW |
5 |
87,073,720 (GRCm39) |
missense |
probably null |
0.13 |
R1238:Ugt2b1
|
UTSW |
5 |
87,073,988 (GRCm39) |
missense |
probably benign |
0.00 |
R1623:Ugt2b1
|
UTSW |
5 |
87,074,267 (GRCm39) |
missense |
probably benign |
0.25 |
R1919:Ugt2b1
|
UTSW |
5 |
87,073,859 (GRCm39) |
missense |
probably benign |
0.00 |
R1930:Ugt2b1
|
UTSW |
5 |
87,065,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R1931:Ugt2b1
|
UTSW |
5 |
87,065,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R1955:Ugt2b1
|
UTSW |
5 |
87,065,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R3973:Ugt2b1
|
UTSW |
5 |
87,065,534 (GRCm39) |
missense |
probably benign |
0.19 |
R3976:Ugt2b1
|
UTSW |
5 |
87,065,534 (GRCm39) |
missense |
probably benign |
0.19 |
R4115:Ugt2b1
|
UTSW |
5 |
87,074,273 (GRCm39) |
missense |
probably damaging |
0.99 |
R5018:Ugt2b1
|
UTSW |
5 |
87,073,821 (GRCm39) |
nonsense |
probably null |
|
R5043:Ugt2b1
|
UTSW |
5 |
87,065,503 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5765:Ugt2b1
|
UTSW |
5 |
87,067,265 (GRCm39) |
missense |
probably benign |
0.32 |
R5959:Ugt2b1
|
UTSW |
5 |
87,073,813 (GRCm39) |
missense |
probably benign |
0.42 |
R5985:Ugt2b1
|
UTSW |
5 |
87,067,527 (GRCm39) |
missense |
possibly damaging |
0.56 |
R6791:Ugt2b1
|
UTSW |
5 |
87,067,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R7380:Ugt2b1
|
UTSW |
5 |
87,065,578 (GRCm39) |
missense |
not run |
|
R7414:Ugt2b1
|
UTSW |
5 |
87,073,693 (GRCm39) |
missense |
probably damaging |
0.97 |
R8519:Ugt2b1
|
UTSW |
5 |
87,074,326 (GRCm39) |
missense |
probably damaging |
0.99 |
R9473:Ugt2b1
|
UTSW |
5 |
87,065,539 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9540:Ugt2b1
|
UTSW |
5 |
87,069,771 (GRCm39) |
missense |
possibly damaging |
0.94 |
X0017:Ugt2b1
|
UTSW |
5 |
87,074,188 (GRCm39) |
missense |
probably benign |
|
X0027:Ugt2b1
|
UTSW |
5 |
87,073,657 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2012-04-20 |