Incidental Mutation 'R5043:Ugt2b1'
| ID |
393294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt2b1
|
| Ensembl Gene |
ENSMUSG00000035836 |
| Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B1 |
| Synonyms |
1300012D20Rik |
| MMRRC Submission |
042633-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R5043 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
87064498-87074362 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 87065503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 512
(C512S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031183
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031183]
|
| AlphaFold |
Q8R084 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031183
AA Change: C512S
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000031183
Gene: ENSMUSG00000035836
AA Change: C512S
| 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: ENSMUST00000177553
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.4%
|
| Validation Efficiency |
98% (44/45) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
A |
5: 144,980,910 (GRCm39) |
Y106* |
probably null |
Het |
| Acsbg3 |
A |
G |
17: 57,192,198 (GRCm39) |
Y587C |
probably damaging |
Het |
| Akap12 |
G |
C |
10: 4,305,047 (GRCm39) |
G619A |
probably damaging |
Het |
| Arhgap29 |
A |
G |
3: 121,767,653 (GRCm39) |
K32E |
probably benign |
Het |
| Capg |
T |
A |
6: 72,535,237 (GRCm39) |
Y253* |
probably null |
Het |
| Cntnap3 |
A |
T |
13: 64,942,162 (GRCm39) |
F189L |
probably damaging |
Het |
| Cp |
T |
C |
3: 20,028,081 (GRCm39) |
S496P |
probably benign |
Het |
| Cxcl11 |
T |
C |
5: 92,511,011 (GRCm39) |
|
probably null |
Het |
| Dennd3 |
T |
C |
15: 73,399,785 (GRCm39) |
L217P |
probably benign |
Het |
| Dip2c |
G |
T |
13: 9,601,863 (GRCm39) |
R274L |
possibly damaging |
Het |
| Dnah12 |
C |
T |
14: 26,606,147 (GRCm39) |
S3776L |
probably damaging |
Het |
| Emcn |
A |
G |
3: 137,097,362 (GRCm39) |
T94A |
possibly damaging |
Het |
| Fnip2 |
A |
T |
3: 79,400,174 (GRCm39) |
Y397* |
probably null |
Het |
| Gabrp |
T |
C |
11: 33,518,072 (GRCm39) |
N79D |
probably benign |
Het |
| Glmp |
T |
G |
3: 88,233,983 (GRCm39) |
|
probably benign |
Het |
| Gm5921 |
C |
T |
9: 115,267,087 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6483 |
A |
G |
8: 19,743,686 (GRCm39) |
T104A |
probably benign |
Het |
| Ifi206 |
A |
T |
1: 173,314,284 (GRCm39) |
M52K |
probably damaging |
Het |
| Iqcc |
T |
C |
4: 129,512,070 (GRCm39) |
|
probably benign |
Het |
| Klra2 |
T |
A |
6: 131,197,135 (GRCm39) |
H288L |
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,771,224 (GRCm39) |
|
probably null |
Het |
| Nisch |
A |
G |
14: 30,898,422 (GRCm39) |
|
probably benign |
Het |
| Nlrp4c |
A |
G |
7: 6,069,824 (GRCm39) |
N575S |
probably benign |
Het |
| Or1n2 |
A |
C |
2: 36,796,977 (GRCm39) |
R6S |
probably benign |
Het |
| Or8b49 |
A |
G |
9: 38,506,137 (GRCm39) |
I207V |
probably damaging |
Het |
| Phlda1 |
T |
A |
10: 111,343,152 (GRCm39) |
L296Q |
unknown |
Het |
| Pramel19 |
T |
C |
4: 101,797,721 (GRCm39) |
F40L |
possibly damaging |
Het |
| Rab36 |
G |
A |
10: 74,886,837 (GRCm39) |
E182K |
probably benign |
Het |
| Rasa3 |
G |
A |
8: 13,620,368 (GRCm39) |
T767M |
possibly damaging |
Het |
| Serpinb11 |
G |
A |
1: 107,297,195 (GRCm39) |
V24M |
probably damaging |
Het |
| Slc7a14 |
T |
G |
3: 31,291,615 (GRCm39) |
N221T |
probably damaging |
Het |
| Smg6 |
T |
C |
11: 74,820,721 (GRCm39) |
S331P |
possibly damaging |
Het |
| Snx1 |
C |
T |
9: 66,004,718 (GRCm39) |
A183T |
probably benign |
Het |
| Srpk2 |
T |
C |
5: 23,729,515 (GRCm39) |
T375A |
probably benign |
Het |
| Tecpr1 |
T |
C |
5: 144,134,672 (GRCm39) |
|
probably null |
Het |
| Topaz1 |
A |
T |
9: 122,577,469 (GRCm39) |
E126D |
probably benign |
Het |
| Ugt2b37 |
C |
T |
5: 87,399,719 (GRCm39) |
W263* |
probably null |
Het |
| Utp20 |
A |
T |
10: 88,634,608 (GRCm39) |
M750K |
possibly damaging |
Het |
| Yeats2 |
A |
T |
16: 20,027,215 (GRCm39) |
Q822L |
probably damaging |
Het |
| Zfp609 |
T |
C |
9: 65,608,109 (GRCm39) |
Y1257C |
probably damaging |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGTCCTGACCCTGTCTTG -3'
(R):5'- TCCTTTCAGCTATAAAGAGAATGCC -3'
Sequencing Primer
(F):5'- CTTGTTTCAGAGGGAAGGCACC -3'
(R):5'- TGCCATGAGATTATCCAGAATCC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation