Incidental Mutation 'IGL01530:Ugt2b5'
ID |
89706 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ugt2b5
|
Ensembl Gene |
ENSMUSG00000054630 |
Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B5 |
Synonyms |
Udpgt-3, m-1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
IGL01530
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
87272819-87288177 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 87285104 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 278
(V278I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068282
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067790]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067790
AA Change: V278I
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000068282 Gene: ENSMUSG00000054630 AA Change: V278I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
24 |
527 |
7.9e-256 |
PFAM |
Pfam:Glyco_tran_28_C
|
352 |
449 |
5.3e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113327
AA Change: V289I
PolyPhen 2
Score 0.030 (Sensitivity: 0.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108953 Gene: ENSMUSG00000054630 AA Change: V289I
Domain | Start | End | E-Value | Type |
Pfam:UDPGT
|
35 |
538 |
1.3e-259 |
PFAM |
Pfam:Glyco_tran_28_C
|
341 |
460 |
4.3e-8 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acin1 |
G |
A |
14: 54,881,443 (GRCm39) |
R1117W |
probably damaging |
Het |
Acox2 |
T |
G |
14: 8,246,363 (GRCm38) |
Y476S |
probably damaging |
Het |
Arl6ip5 |
G |
A |
6: 97,187,785 (GRCm39) |
D2N |
possibly damaging |
Het |
Ces2h |
A |
G |
8: 105,741,116 (GRCm39) |
H36R |
probably benign |
Het |
Cfap44 |
C |
A |
16: 44,269,530 (GRCm39) |
A1178E |
probably damaging |
Het |
Clmn |
T |
A |
12: 104,758,115 (GRCm39) |
I134F |
probably damaging |
Het |
Col6a5 |
A |
G |
9: 105,792,385 (GRCm39) |
|
probably benign |
Het |
Csmd1 |
C |
T |
8: 15,953,195 (GRCm39) |
E3429K |
probably damaging |
Het |
Csmd2 |
A |
G |
4: 128,308,094 (GRCm39) |
D1284G |
possibly damaging |
Het |
Csmd3 |
C |
T |
15: 47,701,833 (GRCm39) |
G1750E |
possibly damaging |
Het |
Csmd3 |
T |
G |
15: 47,533,013 (GRCm39) |
D2516A |
probably damaging |
Het |
Depdc1a |
C |
T |
3: 159,229,560 (GRCm39) |
H631Y |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,174,213 (GRCm39) |
S2167T |
probably benign |
Het |
Flii |
G |
A |
11: 60,611,008 (GRCm39) |
R474* |
probably null |
Het |
Hmcn2 |
A |
C |
2: 31,244,276 (GRCm39) |
D687A |
possibly damaging |
Het |
Hrh4 |
A |
G |
18: 13,149,004 (GRCm39) |
|
probably benign |
Het |
Hsd3b5 |
G |
A |
3: 98,526,439 (GRCm39) |
R336C |
probably damaging |
Het |
Igkv5-39 |
T |
A |
6: 69,877,459 (GRCm39) |
E79V |
probably damaging |
Het |
Iqgap3 |
G |
A |
3: 88,019,610 (GRCm39) |
|
probably null |
Het |
Irak3 |
G |
A |
10: 119,978,699 (GRCm39) |
S492F |
probably benign |
Het |
Kif14 |
T |
A |
1: 136,406,157 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,518,498 (GRCm39) |
I2394V |
probably benign |
Het |
Lama1 |
C |
T |
17: 68,103,785 (GRCm39) |
A2002V |
probably benign |
Het |
Map3k19 |
T |
C |
1: 127,749,841 (GRCm39) |
E1170G |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,711,938 (GRCm39) |
|
probably benign |
Het |
Mpo |
G |
T |
11: 87,692,017 (GRCm39) |
M483I |
probably benign |
Het |
Neu3 |
T |
C |
7: 99,462,953 (GRCm39) |
S257G |
probably benign |
Het |
Nhsl3 |
G |
A |
4: 129,116,589 (GRCm39) |
|
probably null |
Het |
Niban3 |
A |
T |
8: 72,056,561 (GRCm39) |
|
probably benign |
Het |
Nup214 |
A |
G |
2: 31,923,733 (GRCm39) |
T1421A |
probably benign |
Het |
Pbx1 |
T |
C |
1: 168,018,873 (GRCm39) |
N324S |
probably benign |
Het |
Pcbp2 |
T |
C |
15: 102,392,601 (GRCm39) |
S5P |
probably benign |
Het |
Pds5b |
A |
G |
5: 150,715,640 (GRCm39) |
I511V |
probably benign |
Het |
Pdzph1 |
C |
T |
17: 59,229,710 (GRCm39) |
D983N |
probably damaging |
Het |
Phldb2 |
A |
C |
16: 45,623,092 (GRCm39) |
D651E |
probably damaging |
Het |
Pkhd1 |
A |
G |
1: 20,629,643 (GRCm39) |
|
probably null |
Het |
Plxnb1 |
A |
G |
9: 108,939,473 (GRCm39) |
D1406G |
probably benign |
Het |
Rhebl1 |
T |
C |
15: 98,777,367 (GRCm39) |
D65G |
probably damaging |
Het |
Smpdl3a |
A |
G |
10: 57,683,989 (GRCm39) |
H249R |
probably damaging |
Het |
Sorbs1 |
T |
C |
19: 40,365,091 (GRCm39) |
T231A |
probably benign |
Het |
Tmem232 |
G |
A |
17: 65,563,543 (GRCm39) |
Q617* |
probably null |
Het |
Trim62 |
A |
G |
4: 128,778,252 (GRCm39) |
D97G |
probably benign |
Het |
Tsc2 |
T |
C |
17: 24,841,636 (GRCm39) |
T328A |
possibly damaging |
Het |
Usp4 |
T |
C |
9: 108,240,099 (GRCm39) |
|
probably null |
Het |
Vdac3-ps1 |
C |
T |
13: 18,206,091 (GRCm39) |
|
noncoding transcript |
Het |
Wwc2 |
T |
A |
8: 48,316,974 (GRCm39) |
R706S |
unknown |
Het |
Xpot |
A |
C |
10: 121,447,433 (GRCm39) |
I114S |
probably damaging |
Het |
Zfp777 |
T |
A |
6: 48,020,918 (GRCm39) |
S279C |
probably damaging |
Het |
|
Other mutations in Ugt2b5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00702:Ugt2b5
|
APN |
5 |
87,273,078 (GRCm39) |
missense |
probably benign |
0.02 |
IGL00742:Ugt2b5
|
APN |
5 |
87,275,673 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01527:Ugt2b5
|
APN |
5 |
87,284,068 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01637:Ugt2b5
|
APN |
5 |
87,287,759 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02371:Ugt2b5
|
APN |
5 |
87,275,535 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02993:Ugt2b5
|
APN |
5 |
87,285,091 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03114:Ugt2b5
|
APN |
5 |
87,276,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R0372:Ugt2b5
|
UTSW |
5 |
87,288,117 (GRCm39) |
missense |
probably benign |
0.05 |
R0568:Ugt2b5
|
UTSW |
5 |
87,285,224 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R0650:Ugt2b5
|
UTSW |
5 |
87,287,627 (GRCm39) |
missense |
probably benign |
0.00 |
R1660:Ugt2b5
|
UTSW |
5 |
87,287,477 (GRCm39) |
missense |
probably benign |
0.00 |
R1907:Ugt2b5
|
UTSW |
5 |
87,287,489 (GRCm39) |
missense |
probably benign |
0.19 |
R1955:Ugt2b5
|
UTSW |
5 |
87,275,631 (GRCm39) |
missense |
probably benign |
0.18 |
R2389:Ugt2b5
|
UTSW |
5 |
87,275,541 (GRCm39) |
missense |
probably damaging |
0.98 |
R2435:Ugt2b5
|
UTSW |
5 |
87,287,465 (GRCm39) |
missense |
probably damaging |
0.99 |
R2919:Ugt2b5
|
UTSW |
5 |
87,273,266 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2920:Ugt2b5
|
UTSW |
5 |
87,273,266 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4342:Ugt2b5
|
UTSW |
5 |
87,287,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R4343:Ugt2b5
|
UTSW |
5 |
87,287,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R4344:Ugt2b5
|
UTSW |
5 |
87,287,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R4355:Ugt2b5
|
UTSW |
5 |
87,287,622 (GRCm39) |
nonsense |
probably null |
|
R4380:Ugt2b5
|
UTSW |
5 |
87,275,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R4789:Ugt2b5
|
UTSW |
5 |
87,287,550 (GRCm39) |
missense |
probably benign |
0.14 |
R4993:Ugt2b5
|
UTSW |
5 |
87,287,532 (GRCm39) |
missense |
probably benign |
0.00 |
R5731:Ugt2b5
|
UTSW |
5 |
87,288,111 (GRCm39) |
nonsense |
probably null |
|
R6035:Ugt2b5
|
UTSW |
5 |
87,287,541 (GRCm39) |
missense |
probably benign |
0.09 |
R6035:Ugt2b5
|
UTSW |
5 |
87,287,541 (GRCm39) |
missense |
probably benign |
0.09 |
R6491:Ugt2b5
|
UTSW |
5 |
87,273,328 (GRCm39) |
nonsense |
probably null |
|
R7015:Ugt2b5
|
UTSW |
5 |
87,287,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R7203:Ugt2b5
|
UTSW |
5 |
87,276,258 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7212:Ugt2b5
|
UTSW |
5 |
87,273,131 (GRCm39) |
missense |
probably benign |
0.06 |
R7750:Ugt2b5
|
UTSW |
5 |
87,288,108 (GRCm39) |
missense |
probably benign |
0.11 |
R8384:Ugt2b5
|
UTSW |
5 |
87,287,924 (GRCm39) |
missense |
probably benign |
|
R8465:Ugt2b5
|
UTSW |
5 |
87,287,518 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9336:Ugt2b5
|
UTSW |
5 |
87,285,130 (GRCm39) |
missense |
probably benign |
0.00 |
R9678:Ugt2b5
|
UTSW |
5 |
87,273,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R9682:Ugt2b5
|
UTSW |
5 |
87,287,522 (GRCm39) |
missense |
probably damaging |
0.97 |
R9727:Ugt2b5
|
UTSW |
5 |
87,288,165 (GRCm39) |
start codon destroyed |
probably damaging |
0.97 |
X0004:Ugt2b5
|
UTSW |
5 |
87,276,230 (GRCm39) |
nonsense |
probably null |
|
X0021:Ugt2b5
|
UTSW |
5 |
87,284,070 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2013-12-03 |