Incidental Mutation 'IGL00498:Ugt2b34'
| ID |
6417 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ugt2b34
|
| Ensembl Gene |
ENSMUSG00000029260 |
| Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B34 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
IGL00498
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
87037626-87054796 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87049084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 314
(S314P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108959
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031181]
[ENSMUST00000113333]
|
| AlphaFold |
Q8K154 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031181
AA Change: S314P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031181
Gene: ENSMUSG00000029260
AA Change: S314P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
26 |
529 |
2.4e-253 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
331 |
456 |
3.2e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113333
AA Change: S314P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108959
Gene: ENSMUSG00000029260
AA Change: S314P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
26 |
440 |
5.7e-190 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
344 |
440 |
1.1e-8 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
G |
A |
2: 68,432,242 (GRCm39) |
G128R |
unknown |
Het |
| Acsm5 |
T |
C |
7: 119,141,661 (GRCm39) |
|
probably null |
Het |
| Atad2 |
A |
C |
15: 57,980,216 (GRCm39) |
F423V |
probably damaging |
Het |
| Carmil3 |
T |
A |
14: 55,739,352 (GRCm39) |
|
probably null |
Het |
| Cdc42bpa |
A |
C |
1: 179,933,686 (GRCm39) |
E775A |
probably damaging |
Het |
| Cfdp1 |
T |
C |
8: 112,567,110 (GRCm39) |
E133G |
probably benign |
Het |
| Chst3 |
A |
G |
10: 60,021,441 (GRCm39) |
F469L |
possibly damaging |
Het |
| Dbx1 |
T |
C |
7: 49,286,222 (GRCm39) |
D81G |
probably benign |
Het |
| Dmp1 |
A |
G |
5: 104,358,021 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,896,150 (GRCm39) |
T855A |
probably benign |
Het |
| Fbxw2 |
C |
T |
2: 34,695,953 (GRCm39) |
A250T |
probably damaging |
Het |
| Fcgbp |
T |
C |
7: 27,791,222 (GRCm39) |
C828R |
probably damaging |
Het |
| Gmfg |
G |
T |
7: 28,145,810 (GRCm39) |
R83L |
possibly damaging |
Het |
| Gpr37l1 |
A |
G |
1: 135,089,440 (GRCm39) |
|
probably benign |
Het |
| Hcfc1r1 |
G |
A |
17: 23,892,982 (GRCm39) |
R9Q |
probably damaging |
Het |
| Hsd17b1 |
A |
T |
11: 100,970,884 (GRCm39) |
H280L |
possibly damaging |
Het |
| Hsd17b12 |
A |
C |
2: 93,913,510 (GRCm39) |
|
probably null |
Het |
| Itga1 |
A |
G |
13: 115,167,729 (GRCm39) |
V99A |
probably benign |
Het |
| Kcnn1 |
A |
G |
8: 71,305,524 (GRCm39) |
S229P |
probably damaging |
Het |
| Klhdc8a |
A |
G |
1: 132,230,756 (GRCm39) |
N207S |
probably benign |
Het |
| Lrrtm4 |
T |
C |
6: 79,999,529 (GRCm39) |
W314R |
probably damaging |
Het |
| Malrd1 |
T |
C |
2: 16,146,997 (GRCm39) |
|
probably benign |
Het |
| Marcks |
T |
C |
10: 37,014,513 (GRCm39) |
K7E |
probably damaging |
Het |
| Mov10 |
A |
G |
3: 104,708,263 (GRCm39) |
|
probably benign |
Het |
| Pclo |
A |
T |
5: 14,590,753 (GRCm39) |
T1018S |
unknown |
Het |
| Sdk1 |
T |
C |
5: 142,071,361 (GRCm39) |
Y1184H |
probably damaging |
Het |
| Slc6a18 |
A |
T |
13: 73,819,838 (GRCm39) |
M244K |
possibly damaging |
Het |
| Snx19 |
C |
T |
9: 30,340,233 (GRCm39) |
T457I |
possibly damaging |
Het |
| Stard3 |
T |
A |
11: 98,267,356 (GRCm39) |
V158D |
possibly damaging |
Het |
| Tnks |
G |
T |
8: 35,328,843 (GRCm39) |
|
probably benign |
Het |
| Usp15 |
G |
A |
10: 122,949,501 (GRCm39) |
S952L |
probably benign |
Het |
| Utp11 |
A |
G |
4: 124,573,532 (GRCm39) |
V214A |
possibly damaging |
Het |
|
| Other mutations in Ugt2b34 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00488:Ugt2b34
|
APN |
5 |
87,040,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00710:Ugt2b34
|
APN |
5 |
87,054,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01089:Ugt2b34
|
APN |
5 |
87,054,185 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01090:Ugt2b34
|
APN |
5 |
87,041,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01152:Ugt2b34
|
APN |
5 |
87,049,062 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01343:Ugt2b34
|
APN |
5 |
87,052,247 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01410:Ugt2b34
|
APN |
5 |
87,040,689 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01419:Ugt2b34
|
APN |
5 |
87,039,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01986:Ugt2b34
|
APN |
5 |
87,049,111 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02702:Ugt2b34
|
APN |
5 |
87,040,750 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02725:Ugt2b34
|
APN |
5 |
87,054,284 (GRCm39) |
missense |
probably benign |
|
|
IGL02810:Ugt2b34
|
APN |
5 |
87,054,383 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03199:Ugt2b34
|
APN |
5 |
87,054,739 (GRCm39) |
missense |
unknown |
|
|
IGL03335:Ugt2b34
|
APN |
5 |
87,054,499 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL03355:Ugt2b34
|
APN |
5 |
87,054,544 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0624:Ugt2b34
|
UTSW |
5 |
87,041,591 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0707:Ugt2b34
|
UTSW |
5 |
87,040,758 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0825:Ugt2b34
|
UTSW |
5 |
87,054,560 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1029:Ugt2b34
|
UTSW |
5 |
87,052,246 (GRCm39) |
nonsense |
probably null |
|
|
R1857:Ugt2b34
|
UTSW |
5 |
87,052,241 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1982:Ugt2b34
|
UTSW |
5 |
87,054,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2032:Ugt2b34
|
UTSW |
5 |
87,039,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Ugt2b34
|
UTSW |
5 |
87,054,416 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4439:Ugt2b34
|
UTSW |
5 |
87,040,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4783:Ugt2b34
|
UTSW |
5 |
87,039,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5046:Ugt2b34
|
UTSW |
5 |
87,052,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5304:Ugt2b34
|
UTSW |
5 |
87,040,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5543:Ugt2b34
|
UTSW |
5 |
87,054,560 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6235:Ugt2b34
|
UTSW |
5 |
87,054,223 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6841:Ugt2b34
|
UTSW |
5 |
87,040,675 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7459:Ugt2b34
|
UTSW |
5 |
87,049,134 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7624:Ugt2b34
|
UTSW |
5 |
87,039,141 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8316:Ugt2b34
|
UTSW |
5 |
87,039,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8939:Ugt2b34
|
UTSW |
5 |
87,039,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9602:Ugt2b34
|
UTSW |
5 |
87,054,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V8831:Ugt2b34
|
UTSW |
5 |
87,054,533 (GRCm39) |
missense |
probably benign |
0.39 |
|
Z1177:Ugt2b34
|
UTSW |
5 |
87,054,578 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2012-04-20 |
Incidental Mutation