Incidental Mutation 'IGL02993:Ugt2b5'
| ID |
407015 |
| 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: 0.054)
|
| Stock # |
IGL02993
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
87124960-87140318 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 87137232 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Proline
at position 282
(H282P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067790]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067790
AA Change: H282P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000068282
Gene: ENSMUSG00000054630
AA Change: H282P
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700022I11Rik |
T |
C |
4: 42,971,719 (GRCm38) |
Y351H |
probably damaging |
Het |
| 5830411N06Rik |
A |
G |
7: 140,296,573 (GRCm38) |
T537A |
probably benign |
Het |
| Abcd3 |
A |
C |
3: 121,774,010 (GRCm38) |
I434S |
probably benign |
Het |
| Actr2 |
C |
T |
11: 20,072,514 (GRCm38) |
R319Q |
probably damaging |
Het |
| Atp13a5 |
G |
T |
16: 29,293,504 (GRCm38) |
Y606* |
probably null |
Het |
| Baiap3 |
C |
T |
17: 25,250,082 (GRCm38) |
|
probably null |
Het |
| Cers2 |
A |
G |
3: 95,320,085 (GRCm38) |
Y8C |
probably benign |
Het |
| Ces1g |
T |
A |
8: 93,317,079 (GRCm38) |
M411L |
probably benign |
Het |
| Chd6 |
A |
G |
2: 161,052,384 (GRCm38) |
|
probably benign |
Het |
| Cyp2d40 |
C |
A |
15: 82,761,521 (GRCm38) |
K94N |
probably benign |
Het |
| Ddx51 |
T |
C |
5: 110,655,621 (GRCm38) |
V323A |
possibly damaging |
Het |
| Dock1 |
G |
A |
7: 134,744,298 (GRCm38) |
V190I |
probably benign |
Het |
| Evc2 |
A |
G |
5: 37,419,157 (GRCm38) |
T1042A |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,957,155 (GRCm38) |
S2135T |
probably damaging |
Het |
| Gpat2 |
T |
C |
2: 127,427,566 (GRCm38) |
F46S |
probably damaging |
Het |
| Klhl38 |
T |
A |
15: 58,322,455 (GRCm38) |
K293* |
probably null |
Het |
| Map4k4 |
T |
C |
1: 40,014,188 (GRCm38) |
I916T |
probably damaging |
Het |
| Nrap |
T |
A |
19: 56,345,533 (GRCm38) |
K964M |
probably damaging |
Het |
| Osbpl5 |
T |
C |
7: 143,699,334 (GRCm38) |
|
probably null |
Het |
| Perm1 |
A |
G |
4: 156,217,779 (GRCm38) |
Q260R |
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,437,394 (GRCm38) |
N133K |
possibly damaging |
Het |
| Slfn9 |
T |
C |
11: 82,981,196 (GRCm38) |
S905G |
probably benign |
Het |
| Ssh2 |
C |
T |
11: 77,453,544 (GRCm38) |
T785I |
probably damaging |
Het |
| Stk16 |
C |
A |
1: 75,213,004 (GRCm38) |
Q69K |
probably damaging |
Het |
| Stk36 |
T |
C |
1: 74,622,287 (GRCm38) |
L491P |
probably benign |
Het |
| Stxbp2 |
A |
T |
8: 3,641,971 (GRCm38) |
I538F |
probably benign |
Het |
| Tcp11 |
T |
C |
17: 28,070,516 (GRCm38) |
N194D |
probably damaging |
Het |
| Trio |
C |
A |
15: 27,830,239 (GRCm38) |
|
probably benign |
Het |
| Ugt2b1 |
A |
G |
5: 86,921,991 (GRCm38) |
V297A |
possibly damaging |
Het |
| Usp53 |
A |
G |
3: 122,933,843 (GRCm38) |
M1030T |
probably damaging |
Het |
| Vmn1r234 |
T |
A |
17: 21,229,703 (GRCm38) |
I293N |
probably damaging |
Het |
| Vmn2r57 |
T |
A |
7: 41,428,074 (GRCm38) |
T223S |
probably benign |
Het |
| Wdr20 |
G |
T |
12: 110,794,308 (GRCm38) |
E543* |
probably null |
Het |
| Zbtb25 |
T |
A |
12: 76,349,417 (GRCm38) |
N344Y |
probably damaging |
Het |
| Zcchc2 |
T |
C |
1: 106,030,168 (GRCm38) |
F790L |
probably damaging |
Het |
|
| Other mutations in Ugt2b5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00702:Ugt2b5
|
APN |
5 |
87,125,219 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL00742:Ugt2b5
|
APN |
5 |
87,127,814 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01527:Ugt2b5
|
APN |
5 |
87,136,209 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL01530:Ugt2b5
|
APN |
5 |
87,137,245 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL01637:Ugt2b5
|
APN |
5 |
87,139,900 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02371:Ugt2b5
|
APN |
5 |
87,127,676 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03114:Ugt2b5
|
APN |
5 |
87,128,350 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0372:Ugt2b5
|
UTSW |
5 |
87,140,258 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0568:Ugt2b5
|
UTSW |
5 |
87,137,365 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R0650:Ugt2b5
|
UTSW |
5 |
87,139,768 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1660:Ugt2b5
|
UTSW |
5 |
87,139,618 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1907:Ugt2b5
|
UTSW |
5 |
87,139,630 (GRCm38) |
missense |
probably benign |
0.19 |
|
R1955:Ugt2b5
|
UTSW |
5 |
87,127,772 (GRCm38) |
missense |
probably benign |
0.18 |
|
R2389:Ugt2b5
|
UTSW |
5 |
87,127,682 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2435:Ugt2b5
|
UTSW |
5 |
87,139,606 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2919:Ugt2b5
|
UTSW |
5 |
87,125,407 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R2920:Ugt2b5
|
UTSW |
5 |
87,125,407 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R4342:Ugt2b5
|
UTSW |
5 |
87,139,723 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4343:Ugt2b5
|
UTSW |
5 |
87,139,723 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4344:Ugt2b5
|
UTSW |
5 |
87,139,723 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4355:Ugt2b5
|
UTSW |
5 |
87,139,763 (GRCm38) |
nonsense |
probably null |
|
|
R4380:Ugt2b5
|
UTSW |
5 |
87,127,894 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4789:Ugt2b5
|
UTSW |
5 |
87,139,691 (GRCm38) |
missense |
probably benign |
0.14 |
|
R4993:Ugt2b5
|
UTSW |
5 |
87,139,673 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5731:Ugt2b5
|
UTSW |
5 |
87,140,252 (GRCm38) |
nonsense |
probably null |
|
|
R6035:Ugt2b5
|
UTSW |
5 |
87,139,682 (GRCm38) |
missense |
probably benign |
0.09 |
|
R6035:Ugt2b5
|
UTSW |
5 |
87,139,682 (GRCm38) |
missense |
probably benign |
0.09 |
|
R6491:Ugt2b5
|
UTSW |
5 |
87,125,469 (GRCm38) |
nonsense |
probably null |
|
|
R7015:Ugt2b5
|
UTSW |
5 |
87,139,796 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7203:Ugt2b5
|
UTSW |
5 |
87,128,399 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R7212:Ugt2b5
|
UTSW |
5 |
87,125,272 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7750:Ugt2b5
|
UTSW |
5 |
87,140,249 (GRCm38) |
missense |
probably benign |
0.11 |
|
R8384:Ugt2b5
|
UTSW |
5 |
87,140,065 (GRCm38) |
missense |
probably benign |
|
|
R8465:Ugt2b5
|
UTSW |
5 |
87,139,659 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R9336:Ugt2b5
|
UTSW |
5 |
87,137,271 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9678:Ugt2b5
|
UTSW |
5 |
87,125,327 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9682:Ugt2b5
|
UTSW |
5 |
87,139,663 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9727:Ugt2b5
|
UTSW |
5 |
87,140,306 (GRCm38) |
start codon destroyed |
probably damaging |
0.97 |
|
X0004:Ugt2b5
|
UTSW |
5 |
87,128,371 (GRCm38) |
nonsense |
probably null |
|
|
X0021:Ugt2b5
|
UTSW |
5 |
87,136,211 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2016-08-02 |
Incidental Mutation