Incidental Mutation 'R4115:Ugt2b1'
ID |
314579 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ugt2b1
|
Ensembl Gene |
ENSMUSG00000035836 |
Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B1 |
Synonyms |
1300012D20Rik |
MMRRC Submission |
041630-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R4115 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
87064498-87074362 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87074273 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 29
(W29R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031183
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031183]
|
AlphaFold |
Q8R084 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031183
AA Change: W29R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000031183 Gene: ENSMUSG00000035836 AA Change: W29R
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.3%
- 20x: 95.3%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd34c |
A |
G |
9: 89,611,927 (GRCm39) |
L138P |
probably damaging |
Het |
Aplp2 |
C |
T |
9: 31,069,122 (GRCm39) |
R569Q |
probably benign |
Het |
BC035044 |
C |
T |
6: 128,867,813 (GRCm39) |
|
probably benign |
Het |
Camta2 |
T |
C |
11: 70,567,300 (GRCm39) |
M626V |
possibly damaging |
Het |
Cdh20 |
G |
A |
1: 110,066,039 (GRCm39) |
R771Q |
probably benign |
Het |
Chd3 |
T |
G |
11: 69,248,343 (GRCm39) |
I850L |
possibly damaging |
Het |
Cspg4 |
T |
A |
9: 56,805,678 (GRCm39) |
L2163Q |
probably damaging |
Het |
Cyp2c66 |
A |
G |
19: 39,165,003 (GRCm39) |
D328G |
possibly damaging |
Het |
Dcun1d3 |
T |
C |
7: 119,458,957 (GRCm39) |
N26S |
probably benign |
Het |
Dmxl2 |
A |
T |
9: 54,354,272 (GRCm39) |
Y391* |
probably null |
Het |
Gnl3 |
T |
G |
14: 30,738,813 (GRCm39) |
K79Q |
probably damaging |
Het |
Hat1 |
A |
G |
2: 71,271,566 (GRCm39) |
T380A |
probably benign |
Het |
Hectd1 |
A |
T |
12: 51,815,506 (GRCm39) |
L1527* |
probably null |
Het |
Ighv11-1 |
A |
G |
12: 113,945,685 (GRCm39) |
V56A |
probably benign |
Het |
Ism2 |
A |
G |
12: 87,333,805 (GRCm39) |
I80T |
probably benign |
Het |
Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
Kif1a |
T |
A |
1: 92,980,260 (GRCm39) |
E823V |
probably damaging |
Het |
Letm2 |
T |
A |
8: 26,070,343 (GRCm39) |
K432* |
probably null |
Het |
LTO1 |
G |
A |
7: 144,473,383 (GRCm39) |
V142M |
possibly damaging |
Het |
Mc4r |
T |
A |
18: 66,993,050 (GRCm39) |
Y21F |
probably benign |
Het |
Morc3 |
G |
A |
16: 93,670,227 (GRCm39) |
D801N |
probably benign |
Het |
Mycbpap |
C |
A |
11: 94,403,051 (GRCm39) |
|
probably null |
Het |
Nfkbil1 |
A |
G |
17: 35,440,286 (GRCm39) |
M129T |
probably damaging |
Het |
Notch3 |
C |
A |
17: 32,377,407 (GRCm39) |
C223F |
probably damaging |
Het |
Nrcam |
T |
C |
12: 44,613,109 (GRCm39) |
V606A |
possibly damaging |
Het |
Nudcd2 |
T |
C |
11: 40,627,434 (GRCm39) |
M118T |
probably damaging |
Het |
Or1j13 |
A |
T |
2: 36,369,797 (GRCm39) |
L115Q |
probably damaging |
Het |
Pcsk5 |
C |
T |
19: 17,410,783 (GRCm39) |
D1870N |
unknown |
Het |
Pde3b |
T |
C |
7: 114,120,962 (GRCm39) |
F696L |
probably damaging |
Het |
Pde8a |
T |
A |
7: 80,932,555 (GRCm39) |
|
probably null |
Het |
Pgm1 |
C |
T |
4: 99,819,348 (GRCm39) |
Q191* |
probably null |
Het |
Pramel21 |
A |
G |
4: 143,344,026 (GRCm39) |
D442G |
probably benign |
Het |
Psg20 |
A |
G |
7: 18,419,905 (GRCm39) |
S5P |
probably damaging |
Het |
Reps1 |
C |
T |
10: 17,979,955 (GRCm39) |
P397S |
possibly damaging |
Het |
Sec22a |
A |
G |
16: 35,139,202 (GRCm39) |
F232S |
probably damaging |
Het |
Spata13 |
G |
T |
14: 60,929,927 (GRCm39) |
G168V |
probably damaging |
Het |
Spta1 |
T |
C |
1: 174,067,923 (GRCm39) |
W2117R |
probably damaging |
Het |
Sptbn4 |
C |
T |
7: 27,090,995 (GRCm39) |
E1399K |
probably damaging |
Het |
Tek |
T |
C |
4: 94,737,920 (GRCm39) |
S657P |
probably damaging |
Het |
Thoc2l |
T |
C |
5: 104,667,299 (GRCm39) |
L607S |
probably damaging |
Het |
Trpm6 |
T |
C |
19: 18,809,921 (GRCm39) |
W1106R |
probably damaging |
Het |
Tssk3 |
T |
C |
4: 129,383,300 (GRCm39) |
Y124C |
probably damaging |
Het |
Vmn2r97 |
T |
C |
17: 19,148,332 (GRCm39) |
F76L |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGGCTCTTGTTCCAAACTACTG -3'
(R):5'- ACTCATCTAGTCAGTGATGTGG -3'
Sequencing Primer
(F):5'- GCTTTGCAGAAACTTTCAATCATGTC -3'
(R):5'- CATCTAGTCAGTGATGTGGTTAGAAG -3'
|
Posted On |
2015-05-14 |