Incidental Mutation 'IGL01527:Ugt2b5'
| ID |
89597 |
| 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 # |
IGL01527
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
87272819-87288177 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87284068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 308
(V308A)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067790]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067790
AA Change: V297A
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000068282
Gene: ENSMUSG00000054630
AA Change: V297A
| 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 |
possibly damaging
Transcript: ENSMUST00000113327
AA Change: V308A
PolyPhen 2
Score 0.710 (Sensitivity: 0.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108953
Gene: ENSMUSG00000054630
AA Change: V308A
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
G |
T |
17: 35,878,730 (GRCm39) |
|
probably null |
Het |
| Abca13 |
T |
A |
11: 9,240,788 (GRCm39) |
W884R |
possibly damaging |
Het |
| Ahi1 |
T |
C |
10: 20,835,984 (GRCm39) |
|
probably benign |
Het |
| Ankfn1 |
G |
T |
11: 89,282,465 (GRCm39) |
P394Q |
probably benign |
Het |
| Cacnb2 |
T |
C |
2: 14,989,081 (GRCm39) |
I393T |
possibly damaging |
Het |
| Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,778,880 (GRCm39) |
E269G |
probably damaging |
Het |
| Cyp24a1 |
A |
G |
2: 170,338,486 (GRCm39) |
L70P |
probably damaging |
Het |
| Cyp8b1 |
T |
C |
9: 121,744,061 (GRCm39) |
K424E |
probably damaging |
Het |
| Dicer1 |
G |
A |
12: 104,657,869 (GRCm39) |
Q1902* |
probably null |
Het |
| Dst |
T |
A |
1: 34,286,734 (GRCm39) |
L544Q |
probably damaging |
Het |
| Esrp2 |
T |
C |
8: 106,858,865 (GRCm39) |
T591A |
probably benign |
Het |
| Gap43 |
C |
T |
16: 42,112,516 (GRCm39) |
E82K |
probably benign |
Het |
| Ift70a1 |
T |
C |
2: 75,810,860 (GRCm39) |
I408V |
probably benign |
Het |
| Kif17 |
G |
A |
4: 137,996,397 (GRCm39) |
V125I |
probably benign |
Het |
| Lancl2 |
T |
C |
6: 57,709,307 (GRCm39) |
S370P |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,386,953 (GRCm39) |
I203V |
possibly damaging |
Het |
| Mphosph9 |
A |
G |
5: 124,421,687 (GRCm39) |
|
probably benign |
Het |
| Ncapg |
A |
G |
5: 45,829,726 (GRCm39) |
I143V |
possibly damaging |
Het |
| Nr3c1 |
A |
G |
18: 39,619,690 (GRCm39) |
V199A |
probably benign |
Het |
| Obscn |
T |
A |
11: 58,955,243 (GRCm39) |
N3890I |
possibly damaging |
Het |
| Or2g7 |
A |
G |
17: 38,378,986 (GRCm39) |
N308S |
probably benign |
Het |
| Or2h2c |
A |
T |
17: 37,422,701 (GRCm39) |
Y58N |
probably damaging |
Het |
| Or52n5 |
T |
A |
7: 104,588,198 (GRCm39) |
V155E |
possibly damaging |
Het |
| Or8g32 |
A |
G |
9: 39,305,114 (GRCm39) |
H6R |
probably benign |
Het |
| Palmd |
C |
A |
3: 116,720,837 (GRCm39) |
E166* |
probably null |
Het |
| Pdzd2 |
T |
C |
15: 12,445,750 (GRCm39) |
E327G |
probably damaging |
Het |
| Pex13 |
T |
C |
11: 23,606,111 (GRCm39) |
T40A |
probably benign |
Het |
| Pkd2 |
T |
C |
5: 104,646,750 (GRCm39) |
|
probably benign |
Het |
| Plb1 |
A |
G |
5: 32,474,467 (GRCm39) |
T643A |
probably damaging |
Het |
| Prlr |
T |
A |
15: 10,329,257 (GRCm39) |
D577E |
probably benign |
Het |
| Rimoc1 |
T |
C |
15: 4,018,165 (GRCm39) |
Y170C |
probably damaging |
Het |
| Slc44a3 |
A |
G |
3: 121,320,777 (GRCm39) |
C75R |
probably damaging |
Het |
| Susd6 |
A |
T |
12: 80,921,093 (GRCm39) |
N230I |
possibly damaging |
Het |
| Tbx10 |
A |
G |
19: 4,048,227 (GRCm39) |
R251G |
probably damaging |
Het |
| Uap1l1 |
A |
G |
2: 25,253,816 (GRCm39) |
|
probably null |
Het |
| Usp28 |
C |
A |
9: 48,937,173 (GRCm39) |
H147Q |
probably benign |
Het |
| Vmn1r203 |
T |
C |
13: 22,708,447 (GRCm39) |
I76T |
possibly damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,263,158 (GRCm39) |
I101T |
possibly damaging |
Het |
| Vmn2r17 |
T |
A |
5: 109,601,006 (GRCm39) |
L768H |
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 |
|
IGL01530:Ugt2b5
|
APN |
5 |
87,285,104 (GRCm39) |
missense |
probably benign |
0.08 |
|
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 |
Incidental Mutation