Incidental Mutation 'IGL02537:Ugt2b38'
| ID |
297551 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ugt2b38
|
| Ensembl Gene |
ENSMUSG00000061906 |
| Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B38 |
| Synonyms |
9430041C03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
IGL02537
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
87557801-87572062 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87569590 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 246
(T246A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072598
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072818]
|
| AlphaFold |
Q91WH2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072818
AA Change: T246A
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000072598
Gene: ENSMUSG00000061906
AA Change: T246A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
24 |
527 |
4.1e-255 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
330 |
444 |
1.2e-7 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
| Alx3 |
T |
A |
3: 107,512,175 (GRCm39) |
M271K |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,749,565 (GRCm39) |
E488G |
probably damaging |
Het |
| Arsk |
T |
A |
13: 76,223,025 (GRCm39) |
R191* |
probably null |
Het |
| B230217C12Rik |
T |
C |
11: 97,733,011 (GRCm39) |
S111P |
possibly damaging |
Het |
| Bckdhb |
A |
G |
9: 83,871,194 (GRCm39) |
I158V |
probably benign |
Het |
| Bub1 |
G |
A |
2: 127,643,267 (GRCm39) |
Q1026* |
probably null |
Het |
| C8a |
A |
G |
4: 104,703,148 (GRCm39) |
M303T |
probably damaging |
Het |
| Cftr |
A |
G |
6: 18,274,596 (GRCm39) |
T905A |
probably benign |
Het |
| Ciao3 |
C |
T |
17: 25,997,916 (GRCm39) |
|
probably benign |
Het |
| Col14a1 |
A |
T |
15: 55,208,310 (GRCm39) |
K132* |
probably null |
Het |
| Depdc5 |
T |
A |
5: 33,125,131 (GRCm39) |
L531Q |
probably damaging |
Het |
| Dzip1 |
G |
A |
14: 119,146,988 (GRCm39) |
|
probably benign |
Het |
| F5 |
C |
A |
1: 164,020,686 (GRCm39) |
L1054I |
probably benign |
Het |
| Gm4353 |
A |
T |
7: 115,682,987 (GRCm39) |
I198N |
probably damaging |
Het |
| Il1a |
T |
A |
2: 129,150,996 (GRCm39) |
E9V |
probably damaging |
Het |
| Irag1 |
A |
T |
7: 110,470,680 (GRCm39) |
Y678* |
probably null |
Het |
| Kif15 |
A |
G |
9: 122,822,914 (GRCm39) |
T432A |
probably benign |
Het |
| Kndc1 |
T |
C |
7: 139,490,326 (GRCm39) |
V276A |
probably benign |
Het |
| Or2aj5 |
A |
T |
16: 19,424,549 (GRCm39) |
Y290N |
probably damaging |
Het |
| Or4a74 |
A |
C |
2: 89,439,739 (GRCm39) |
S236A |
possibly damaging |
Het |
| Or6n2 |
A |
T |
1: 173,897,020 (GRCm39) |
D52V |
possibly damaging |
Het |
| Palld |
T |
C |
8: 62,137,968 (GRCm39) |
S596G |
probably benign |
Het |
| Pdc |
A |
T |
1: 150,208,760 (GRCm39) |
D81V |
possibly damaging |
Het |
| Plcd4 |
A |
G |
1: 74,595,209 (GRCm39) |
K361R |
possibly damaging |
Het |
| Plekhm1 |
T |
A |
11: 103,288,018 (GRCm39) |
D43V |
probably damaging |
Het |
| Prpf31 |
G |
T |
7: 3,641,750 (GRCm39) |
G356C |
probably damaging |
Het |
| Rbpj |
T |
A |
5: 53,799,485 (GRCm39) |
I100K |
probably damaging |
Het |
| Rufy3 |
A |
G |
5: 88,788,521 (GRCm39) |
|
probably benign |
Het |
| Slc40a1 |
C |
T |
1: 45,950,553 (GRCm39) |
V300I |
probably benign |
Het |
| Slc6a12 |
A |
T |
6: 121,337,473 (GRCm39) |
I386F |
probably benign |
Het |
| Strip1 |
C |
T |
3: 107,524,210 (GRCm39) |
R569H |
possibly damaging |
Het |
| Tep1 |
A |
T |
14: 51,073,570 (GRCm39) |
D1996E |
probably damaging |
Het |
| Tmem68 |
A |
G |
4: 3,569,649 (GRCm39) |
S14P |
possibly damaging |
Het |
| Trav12-1 |
C |
A |
14: 53,775,980 (GRCm39) |
C44* |
probably null |
Het |
| Uba1 |
G |
A |
X: 20,544,902 (GRCm39) |
R693H |
possibly damaging |
Het |
| Usp24 |
A |
G |
4: 106,249,564 (GRCm39) |
Y1427C |
probably damaging |
Het |
| Vmn2r78 |
A |
T |
7: 86,603,496 (GRCm39) |
Y558F |
probably damaging |
Het |
| Wdr54 |
A |
G |
6: 83,130,372 (GRCm39) |
W221R |
possibly damaging |
Het |
| Xpo4 |
T |
C |
14: 57,831,290 (GRCm39) |
T773A |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zfp518a |
T |
A |
19: 40,903,874 (GRCm39) |
S1268T |
probably benign |
Het |
| Znfx1 |
T |
C |
2: 166,898,087 (GRCm39) |
D279G |
probably benign |
Het |
|
| Other mutations in Ugt2b38 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00959:Ugt2b38
|
APN |
5 |
87,559,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02326:Ugt2b38
|
APN |
5 |
87,571,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02543:Ugt2b38
|
APN |
5 |
87,571,342 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02852:Ugt2b38
|
APN |
5 |
87,559,600 (GRCm39) |
missense |
probably benign |
|
|
IGL03008:Ugt2b38
|
APN |
5 |
87,560,282 (GRCm39) |
missense |
probably benign |
0.00 |
|
over_easy
|
UTSW |
5 |
87,571,601 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0089:Ugt2b38
|
UTSW |
5 |
87,568,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0647:Ugt2b38
|
UTSW |
5 |
87,571,328 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0731:Ugt2b38
|
UTSW |
5 |
87,568,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0837:Ugt2b38
|
UTSW |
5 |
87,559,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0966:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0969:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0970:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0971:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1068:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1070:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1071:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1073:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1133:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1134:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1367:Ugt2b38
|
UTSW |
5 |
87,571,973 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1383:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1565:Ugt2b38
|
UTSW |
5 |
87,559,773 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1691:Ugt2b38
|
UTSW |
5 |
87,571,991 (GRCm39) |
missense |
probably benign |
|
|
R1725:Ugt2b38
|
UTSW |
5 |
87,559,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1736:Ugt2b38
|
UTSW |
5 |
87,571,492 (GRCm39) |
missense |
probably benign |
|
|
R2230:Ugt2b38
|
UTSW |
5 |
87,569,527 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2419:Ugt2b38
|
UTSW |
5 |
87,571,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2496:Ugt2b38
|
UTSW |
5 |
87,569,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3196:Ugt2b38
|
UTSW |
5 |
87,558,078 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3773:Ugt2b38
|
UTSW |
5 |
87,571,954 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5125:Ugt2b38
|
UTSW |
5 |
87,559,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5224:Ugt2b38
|
UTSW |
5 |
87,571,601 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5516:Ugt2b38
|
UTSW |
5 |
87,559,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5765:Ugt2b38
|
UTSW |
5 |
87,571,954 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6352:Ugt2b38
|
UTSW |
5 |
87,571,860 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7166:Ugt2b38
|
UTSW |
5 |
87,558,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7210:Ugt2b38
|
UTSW |
5 |
87,558,284 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7291:Ugt2b38
|
UTSW |
5 |
87,559,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7483:Ugt2b38
|
UTSW |
5 |
87,571,973 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7969:Ugt2b38
|
UTSW |
5 |
87,571,891 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8118:Ugt2b38
|
UTSW |
5 |
87,571,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8239:Ugt2b38
|
UTSW |
5 |
87,571,659 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8676:Ugt2b38
|
UTSW |
5 |
87,559,681 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9178:Ugt2b38
|
UTSW |
5 |
87,568,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9193:Ugt2b38
|
UTSW |
5 |
87,571,729 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9566:Ugt2b38
|
UTSW |
5 |
87,558,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation