Incidental Mutation 'IGL03199:Ugt2b34'
| ID |
412934 |
| 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 # |
IGL03199
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
87037626-87054796 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87054739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 14
(L14P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108959
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031181]
[ENSMUST00000113333]
|
| AlphaFold |
Q8K154 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000031181
AA Change: L14P
|
| SMART Domains |
Protein: ENSMUSP00000031181
Gene: ENSMUSG00000029260
AA Change: L14P
| 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 |
unknown
Transcript: ENSMUST00000113333
AA Change: L14P
|
| SMART Domains |
Protein: ENSMUSP00000108959
Gene: ENSMUSG00000029260
AA Change: L14P
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
C |
15: 81,946,556 (GRCm39) |
I151T |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,599,479 (GRCm39) |
M1904K |
possibly damaging |
Het |
| Chsy3 |
T |
A |
18: 59,309,473 (GRCm39) |
F242Y |
probably damaging |
Het |
| Cwf19l2 |
G |
A |
9: 3,477,830 (GRCm39) |
G845D |
probably damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,167,670 (GRCm39) |
I244T |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,894,761 (GRCm39) |
Q3499L |
probably benign |
Het |
| Fat3 |
A |
G |
9: 16,288,344 (GRCm39) |
V393A |
possibly damaging |
Het |
| Fcamr |
T |
A |
1: 130,740,655 (GRCm39) |
V358D |
probably damaging |
Het |
| Fndc3c1 |
T |
A |
X: 105,479,993 (GRCm39) |
K696N |
possibly damaging |
Het |
| Igkv2-112 |
G |
A |
6: 68,197,000 (GRCm39) |
M12I |
probably benign |
Het |
| Macc1 |
T |
C |
12: 119,410,156 (GRCm39) |
M308T |
probably benign |
Het |
| Map4k1 |
A |
G |
7: 28,682,842 (GRCm39) |
E16G |
probably damaging |
Het |
| Myl7 |
C |
T |
11: 5,848,205 (GRCm39) |
G50R |
probably damaging |
Het |
| Ncapg2 |
T |
A |
12: 116,382,856 (GRCm39) |
L229H |
probably damaging |
Het |
| Or10d4b |
A |
G |
9: 39,535,240 (GRCm39) |
I272V |
probably benign |
Het |
| Prkcz |
A |
G |
4: 155,357,441 (GRCm39) |
F157L |
possibly damaging |
Het |
| Sult2a1 |
C |
A |
7: 13,566,585 (GRCm39) |
G130V |
probably damaging |
Het |
| Trim27 |
G |
A |
13: 21,375,421 (GRCm39) |
|
probably null |
Het |
| Trim43b |
T |
G |
9: 88,971,481 (GRCm39) |
Q225P |
probably damaging |
Het |
| Vmn1r209 |
A |
T |
13: 22,990,220 (GRCm39) |
S157T |
possibly damaging |
Het |
| Vmn2r38 |
A |
T |
7: 9,078,375 (GRCm39) |
V669D |
probably damaging |
Het |
| Vps35l |
T |
C |
7: 118,365,611 (GRCm39) |
S15P |
probably benign |
Het |
| Zfp422 |
T |
C |
6: 116,603,912 (GRCm39) |
Q29R |
probably benign |
Het |
| Zfp623 |
C |
T |
15: 75,819,119 (GRCm39) |
A25V |
probably benign |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation