Incidental Mutation 'IGL02810:Ugt2b34'
ID |
360546 |
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 # |
IGL02810
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
87037626-87054796 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 87054383 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 133
(V133L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108959
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031181]
[ENSMUST00000113333]
|
AlphaFold |
Q8K154 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031181
AA Change: V133L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000031181 Gene: ENSMUSG00000029260 AA Change: V133L
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 benign
Transcript: ENSMUST00000113333
AA Change: V133L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000108959 Gene: ENSMUSG00000029260 AA Change: V133L
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
T |
C |
5: 113,249,401 (GRCm39) |
K1491E |
probably damaging |
Het |
Abi3bp |
T |
C |
16: 56,498,138 (GRCm39) |
S696P |
probably damaging |
Het |
Ago1 |
A |
G |
4: 126,336,886 (GRCm39) |
V273A |
probably benign |
Het |
Atosb |
C |
A |
4: 43,034,429 (GRCm39) |
V389F |
probably damaging |
Het |
Bbs2 |
A |
G |
8: 94,813,539 (GRCm39) |
Y213H |
probably benign |
Het |
Car10 |
T |
A |
11: 93,469,522 (GRCm39) |
Y142N |
probably damaging |
Het |
Eml6 |
T |
C |
11: 29,799,016 (GRCm39) |
K415E |
possibly damaging |
Het |
Exoc3l |
A |
T |
8: 106,021,980 (GRCm39) |
I41N |
probably damaging |
Het |
Fat3 |
T |
C |
9: 16,288,146 (GRCm39) |
D459G |
probably damaging |
Het |
Gabbr1 |
T |
C |
17: 37,373,654 (GRCm39) |
F401L |
probably damaging |
Het |
Galnt10 |
G |
A |
11: 57,616,412 (GRCm39) |
R109Q |
probably damaging |
Het |
Gpr108 |
C |
T |
17: 57,549,742 (GRCm39) |
D265N |
probably benign |
Het |
Helb |
T |
C |
10: 119,927,608 (GRCm39) |
N834S |
possibly damaging |
Het |
Igkv8-30 |
A |
G |
6: 70,094,342 (GRCm39) |
V23A |
probably benign |
Het |
Iqck |
A |
T |
7: 118,570,662 (GRCm39) |
K271N |
possibly damaging |
Het |
Klhl17 |
T |
C |
4: 156,318,514 (GRCm39) |
E36G |
possibly damaging |
Het |
Klrb1b |
A |
G |
6: 128,795,430 (GRCm39) |
|
probably null |
Het |
Mybl1 |
G |
A |
1: 9,743,340 (GRCm39) |
P571S |
probably damaging |
Het |
Mybl1 |
T |
C |
1: 9,748,613 (GRCm39) |
T328A |
probably benign |
Het |
Nav3 |
A |
T |
10: 109,652,135 (GRCm39) |
D873E |
probably damaging |
Het |
Nms |
T |
C |
1: 38,987,725 (GRCm39) |
Y147H |
possibly damaging |
Het |
Nrde2 |
A |
T |
12: 100,110,017 (GRCm39) |
M338K |
possibly damaging |
Het |
Oasl2 |
T |
A |
5: 115,035,852 (GRCm39) |
F43I |
probably damaging |
Het |
Oxr1 |
G |
A |
15: 41,676,979 (GRCm39) |
V91I |
probably benign |
Het |
Pcnx2 |
C |
T |
8: 126,613,942 (GRCm39) |
C503Y |
probably benign |
Het |
Polr2m |
A |
T |
9: 71,390,848 (GRCm39) |
I14K |
probably benign |
Het |
Ppara |
T |
C |
15: 85,661,878 (GRCm39) |
S40P |
probably damaging |
Het |
Shisa6 |
T |
A |
11: 66,115,774 (GRCm39) |
T288S |
possibly damaging |
Het |
Slc26a5 |
T |
C |
5: 22,018,381 (GRCm39) |
|
probably benign |
Het |
Spag1 |
A |
G |
15: 36,234,693 (GRCm39) |
N818D |
probably damaging |
Het |
Srcap |
T |
C |
7: 127,120,835 (GRCm39) |
|
probably null |
Het |
Tctn1 |
C |
T |
5: 122,380,664 (GRCm39) |
|
probably null |
Het |
Triobp |
A |
G |
15: 78,886,403 (GRCm39) |
N507S |
possibly damaging |
Het |
Tut7 |
A |
G |
13: 59,929,830 (GRCm39) |
|
probably null |
Het |
Yju2b |
A |
G |
8: 84,990,997 (GRCm39) |
|
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 |
|
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 |
2015-12-18 |