Incidental Mutation 'IGL00556:Ugt2b1'
| ID |
6415 |
| 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 # |
IGL00556
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
87064498-87074362 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87074055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 101
(L101F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031183
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031183]
|
| AlphaFold |
Q8R084 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031183
AA Change: L101F
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000031183
Gene: ENSMUSG00000035836
AA Change: L101F
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,392,916 (GRCm39) |
I108V |
probably benign |
Het |
| Atad2 |
A |
G |
15: 57,963,476 (GRCm39) |
I723T |
probably damaging |
Het |
| Cct4 |
T |
A |
11: 22,947,656 (GRCm39) |
V233E |
possibly damaging |
Het |
| Ces1a |
A |
G |
8: 93,771,687 (GRCm39) |
Y37H |
probably benign |
Het |
| Cgnl1 |
C |
T |
9: 71,563,338 (GRCm39) |
R863Q |
probably benign |
Het |
| Dnaaf9 |
T |
C |
2: 130,626,377 (GRCm39) |
D225G |
probably benign |
Het |
| Fam13b |
T |
C |
18: 34,630,488 (GRCm39) |
D90G |
probably damaging |
Het |
| Fhdc1 |
A |
T |
3: 84,364,549 (GRCm39) |
D232E |
possibly damaging |
Het |
| Gm6370 |
A |
G |
5: 146,430,723 (GRCm39) |
T303A |
probably benign |
Het |
| Gsdmc2 |
A |
G |
15: 63,700,120 (GRCm39) |
|
probably benign |
Het |
| Kif13b |
T |
A |
14: 64,982,337 (GRCm39) |
N516K |
probably damaging |
Het |
| Med1 |
A |
G |
11: 98,046,510 (GRCm39) |
|
probably benign |
Het |
| Med4 |
T |
C |
14: 73,754,707 (GRCm39) |
M190T |
probably damaging |
Het |
| Myo15b |
T |
C |
11: 115,782,742 (GRCm39) |
V1534A |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,081,961 (GRCm39) |
R1722G |
probably benign |
Het |
| Obp2b |
A |
T |
2: 25,628,593 (GRCm39) |
I116F |
probably damaging |
Het |
| Rims2 |
A |
G |
15: 39,320,070 (GRCm39) |
|
probably null |
Het |
| Siglecg |
A |
T |
7: 43,061,219 (GRCm39) |
I431F |
probably benign |
Het |
| Thap12 |
T |
A |
7: 98,365,344 (GRCm39) |
V504D |
possibly damaging |
Het |
| Tlr7 |
A |
C |
X: 166,091,471 (GRCm39) |
M5R |
possibly damaging |
Het |
| Tubgcp6 |
A |
G |
15: 88,985,165 (GRCm39) |
V1641A |
probably damaging |
Het |
| Xdh |
A |
T |
17: 74,191,430 (GRCm39) |
*1336R |
probably null |
Het |
|
| Other mutations in Ugt2b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Ugt2b1
|
APN |
5 |
87,073,817 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
Incidental Mutation