Incidental Mutation 'IGL01089:Ugt2b34'
ID |
51080 |
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 # |
IGL01089
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
87037626-87054796 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 87054185 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 199
(V199I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031181
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031181]
[ENSMUST00000113333]
|
AlphaFold |
Q8K154 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031181
AA Change: V199I
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000031181 Gene: ENSMUSG00000029260 AA Change: V199I
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: V199I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000108959 Gene: ENSMUSG00000029260 AA Change: V199I
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr8 |
T |
C |
14: 29,710,292 (GRCm39) |
L353S |
probably damaging |
Het |
Adgrf2 |
G |
A |
17: 43,021,049 (GRCm39) |
P592S |
probably damaging |
Het |
Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
Afap1l2 |
A |
C |
19: 56,901,843 (GRCm39) |
|
probably null |
Het |
Asnsd1 |
G |
A |
1: 53,387,436 (GRCm39) |
P64S |
probably damaging |
Het |
Bmt2 |
A |
G |
6: 13,663,270 (GRCm39) |
M76T |
probably damaging |
Het |
Clca3b |
A |
T |
3: 144,529,283 (GRCm39) |
V797D |
probably benign |
Het |
Cog2 |
T |
C |
8: 125,271,982 (GRCm39) |
S499P |
probably benign |
Het |
Cyp27a1 |
A |
T |
1: 74,771,097 (GRCm39) |
Y94F |
possibly damaging |
Het |
D630045J12Rik |
A |
G |
6: 38,113,898 (GRCm39) |
S1765P |
probably benign |
Het |
Fam149a |
A |
G |
8: 45,801,564 (GRCm39) |
L519P |
possibly damaging |
Het |
Fam171a2 |
G |
A |
11: 102,328,674 (GRCm39) |
A695V |
possibly damaging |
Het |
Fat1 |
T |
A |
8: 45,470,894 (GRCm39) |
V1566E |
probably damaging |
Het |
Flvcr1 |
T |
G |
1: 190,745,587 (GRCm39) |
N361H |
probably damaging |
Het |
Gm1110 |
T |
C |
9: 26,793,156 (GRCm39) |
N540S |
probably benign |
Het |
Katnip |
A |
G |
7: 125,394,485 (GRCm39) |
E187G |
probably damaging |
Het |
Kcns3 |
T |
A |
12: 11,141,572 (GRCm39) |
T376S |
possibly damaging |
Het |
Krt32 |
A |
G |
11: 99,978,605 (GRCm39) |
S150P |
probably benign |
Het |
Liat1 |
A |
G |
11: 75,894,163 (GRCm39) |
E180G |
possibly damaging |
Het |
Lrtm2 |
C |
T |
6: 119,297,753 (GRCm39) |
R96Q |
possibly damaging |
Het |
Mctp1 |
A |
G |
13: 77,168,917 (GRCm39) |
E838G |
probably damaging |
Het |
Mios |
T |
C |
6: 8,234,363 (GRCm39) |
|
probably null |
Het |
Or1j10 |
A |
T |
2: 36,267,178 (GRCm39) |
Y130F |
probably damaging |
Het |
Phldb1 |
T |
A |
9: 44,619,184 (GRCm39) |
K167* |
probably null |
Het |
Pkhd1l1 |
A |
G |
15: 44,347,265 (GRCm39) |
|
probably benign |
Het |
Plaa |
A |
G |
4: 94,462,284 (GRCm39) |
V531A |
probably benign |
Het |
Psmb2 |
A |
G |
4: 126,577,999 (GRCm39) |
Y59C |
probably damaging |
Het |
Ptprg |
A |
G |
14: 12,215,286 (GRCm38) |
H1091R |
probably damaging |
Het |
Rbm44 |
T |
A |
1: 91,096,419 (GRCm39) |
V926D |
possibly damaging |
Het |
Rgma |
G |
T |
7: 73,059,462 (GRCm39) |
V189L |
possibly damaging |
Het |
Sbf2 |
A |
T |
7: 109,948,169 (GRCm39) |
I1227K |
probably damaging |
Het |
Slc8a1 |
T |
C |
17: 81,955,710 (GRCm39) |
T443A |
probably damaging |
Het |
Slc8a1 |
A |
G |
17: 81,696,310 (GRCm39) |
V896A |
probably damaging |
Het |
Taf2 |
T |
C |
15: 54,879,977 (GRCm39) |
M1120V |
probably benign |
Het |
Unc5c |
C |
A |
3: 141,523,963 (GRCm39) |
|
probably benign |
Het |
Usp37 |
G |
A |
1: 74,532,205 (GRCm39) |
R63* |
probably null |
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 |
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 |
2013-06-21 |