Incidental Mutation 'IGL00488:Ugt2b34'
| ID |
6418 |
| 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: 0.132)
|
| Stock # |
IGL00488
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
87037626-87054796 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87040818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 368
(H368L)
|
| 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: H368L
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000031181
Gene: ENSMUSG00000029260
AA Change: H368L
| 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: H368L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108959
Gene: ENSMUSG00000029260
AA Change: H368L
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
A |
3: 151,248,478 (GRCm39) |
S717T |
probably damaging |
Het |
| Bcorl1 |
T |
G |
X: 47,494,919 (GRCm39) |
V1730G |
probably damaging |
Het |
| Cchcr1 |
A |
G |
17: 35,839,469 (GRCm39) |
D585G |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,063,190 (GRCm39) |
N2637K |
possibly damaging |
Het |
| Erg |
C |
A |
16: 95,170,848 (GRCm39) |
|
probably benign |
Het |
| Mak |
C |
T |
13: 41,209,165 (GRCm39) |
|
probably benign |
Het |
| Max |
T |
C |
12: 76,985,404 (GRCm39) |
S132G |
probably damaging |
Het |
| Nfam1 |
T |
C |
15: 82,907,185 (GRCm39) |
Y4C |
probably benign |
Het |
| Orc5 |
G |
T |
5: 22,721,771 (GRCm39) |
D360E |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,593,711 (GRCm39) |
|
probably null |
Het |
| Ptpn18 |
G |
A |
1: 34,502,200 (GRCm39) |
R72K |
probably damaging |
Het |
| R3hcc1l |
A |
G |
19: 42,552,391 (GRCm39) |
I463V |
probably benign |
Het |
| Rapgef2 |
T |
C |
3: 78,999,332 (GRCm39) |
E480G |
possibly damaging |
Het |
| Rictor |
T |
A |
15: 6,816,071 (GRCm39) |
D1114E |
probably damaging |
Het |
| Sestd1 |
A |
G |
2: 77,042,796 (GRCm39) |
S253P |
possibly damaging |
Het |
| Slk |
C |
T |
19: 47,608,148 (GRCm39) |
T367I |
probably benign |
Het |
| Tasl |
T |
A |
X: 84,931,985 (GRCm39) |
Y184N |
possibly damaging |
Het |
| Tcirg1 |
T |
G |
19: 3,949,108 (GRCm39) |
I394L |
possibly damaging |
Het |
| Ubn1 |
T |
C |
16: 4,899,778 (GRCm39) |
S1097P |
probably benign |
Het |
| Wdr20rt |
T |
C |
12: 65,272,744 (GRCm39) |
V69A |
possibly damaging |
Het |
| Wnt16 |
T |
C |
6: 22,291,012 (GRCm39) |
S147P |
probably damaging |
Het |
|
| Other mutations in Ugt2b34 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00498:Ugt2b34
|
APN |
5 |
87,049,084 (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