Incidental Mutation 'IGL01331:Ugt2b36'
| ID |
74507 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ugt2b36
|
| Ensembl Gene |
ENSMUSG00000070704 |
| Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B36 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
IGL01331
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
87213786-87240414 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87238801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 131
(W131R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094649]
[ENSMUST00000132667]
[ENSMUST00000145617]
|
| AlphaFold |
Q3UEP4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094649
AA Change: W257R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092233
Gene: ENSMUSG00000070704
AA Change: W257R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
24 |
527 |
6.9e-260 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
339 |
448 |
2e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132667
AA Change: W131R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123024
Gene: ENSMUSG00000070704
AA Change: W131R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
24 |
105 |
1.1e-23 |
PFAM |
|
Pfam:UDPGT
|
99 |
265 |
7.4e-95 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145617
AA Change: W58R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120005
Gene: ENSMUSG00000070704
AA Change: W58R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UDPGT
|
22 |
249 |
2.1e-127 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
164 |
245 |
1.7e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154455
|
| SMART Domains |
Protein: ENSMUSP00000120633
Gene: ENSMUSG00000070704
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UDPGT
|
1 |
198 |
1.2e-117 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
109 |
194 |
1.7e-9 |
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 |
|---|
| Clca3a1 |
G |
A |
3: 144,453,273 (GRCm39) |
T517M |
probably damaging |
Het |
| Clec4g |
T |
C |
8: 3,767,190 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
C |
T |
13: 93,233,454 (GRCm39) |
E545K |
possibly damaging |
Het |
| Cntn6 |
A |
T |
6: 104,751,484 (GRCm39) |
D380V |
probably damaging |
Het |
| Col9a2 |
C |
T |
4: 120,902,389 (GRCm39) |
P209S |
possibly damaging |
Het |
| Cyp2b9 |
T |
C |
7: 25,887,140 (GRCm39) |
V183A |
probably damaging |
Het |
| Dpt |
T |
C |
1: 164,624,379 (GRCm39) |
Y27H |
unknown |
Het |
| Dusp16 |
T |
C |
6: 134,695,067 (GRCm39) |
Q588R |
possibly damaging |
Het |
| Emg1 |
A |
G |
6: 124,682,033 (GRCm39) |
S164P |
probably benign |
Het |
| Foxk1 |
G |
A |
5: 142,439,344 (GRCm39) |
R428Q |
probably damaging |
Het |
| Frmd4a |
T |
A |
2: 4,607,036 (GRCm39) |
M667K |
probably benign |
Het |
| Gpr55 |
T |
A |
1: 85,868,915 (GRCm39) |
|
probably benign |
Het |
| Gtpbp8 |
A |
G |
16: 44,560,494 (GRCm39) |
I162T |
probably benign |
Het |
| Ighv1-59 |
C |
T |
12: 115,298,992 (GRCm39) |
V21I |
possibly damaging |
Het |
| Ipo11 |
T |
A |
13: 106,932,254 (GRCm39) |
Y938F |
possibly damaging |
Het |
| Map4 |
G |
T |
9: 109,863,869 (GRCm39) |
V365L |
probably benign |
Het |
| Mboat1 |
C |
A |
13: 30,403,684 (GRCm39) |
|
probably benign |
Het |
| Med12 |
A |
G |
X: 100,324,360 (GRCm39) |
E649G |
possibly damaging |
Het |
| Nfkbie |
T |
C |
17: 45,869,495 (GRCm39) |
V150A |
probably benign |
Het |
| Or51ai2 |
A |
G |
7: 103,586,782 (GRCm39) |
Y65C |
possibly damaging |
Het |
| Or8k22 |
A |
C |
2: 86,163,048 (GRCm39) |
Y217* |
probably null |
Het |
| Prdm1 |
T |
A |
10: 44,317,970 (GRCm39) |
K299N |
possibly damaging |
Het |
| Ribc1 |
T |
C |
X: 150,788,102 (GRCm39) |
T291A |
probably benign |
Het |
| Rps6kc1 |
G |
T |
1: 190,532,549 (GRCm39) |
N484K |
possibly damaging |
Het |
| Serpina3k |
C |
A |
12: 104,309,369 (GRCm39) |
A271D |
probably benign |
Het |
| Spata18 |
G |
T |
5: 73,827,024 (GRCm39) |
R321L |
probably damaging |
Het |
| Styxl2 |
C |
A |
1: 165,935,749 (GRCm39) |
V150L |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 75,976,027 (GRCm39) |
|
probably benign |
Het |
| Syt17 |
T |
A |
7: 118,007,389 (GRCm39) |
I302F |
probably damaging |
Het |
| Tgm6 |
A |
G |
2: 129,985,538 (GRCm39) |
|
probably null |
Het |
| Tmc2 |
A |
G |
2: 130,074,276 (GRCm39) |
Y323C |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,901,112 (GRCm39) |
D1452G |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,620,022 (GRCm39) |
I7555T |
probably damaging |
Het |
| Vmn2r75 |
A |
T |
7: 85,820,870 (GRCm39) |
C21* |
probably null |
Het |
| Zfp592 |
T |
A |
7: 80,691,296 (GRCm39) |
C1158* |
probably null |
Het |
|
| Other mutations in Ugt2b36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00513:Ugt2b36
|
APN |
5 |
87,229,440 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01024:Ugt2b36
|
APN |
5 |
87,228,728 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01295:Ugt2b36
|
APN |
5 |
87,228,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02597:Ugt2b36
|
APN |
5 |
87,228,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02967:Ugt2b36
|
APN |
5 |
87,238,759 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL03053:Ugt2b36
|
APN |
5 |
87,239,933 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0370:Ugt2b36
|
UTSW |
5 |
87,239,834 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0616:Ugt2b36
|
UTSW |
5 |
87,237,336 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0827:Ugt2b36
|
UTSW |
5 |
87,214,234 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0885:Ugt2b36
|
UTSW |
5 |
87,239,848 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1471:Ugt2b36
|
UTSW |
5 |
87,239,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1567:Ugt2b36
|
UTSW |
5 |
87,240,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1782:Ugt2b36
|
UTSW |
5 |
87,229,440 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1974:Ugt2b36
|
UTSW |
5 |
87,228,727 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2065:Ugt2b36
|
UTSW |
5 |
87,240,100 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2066:Ugt2b36
|
UTSW |
5 |
87,240,100 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2068:Ugt2b36
|
UTSW |
5 |
87,240,100 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2111:Ugt2b36
|
UTSW |
5 |
87,240,100 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2272:Ugt2b36
|
UTSW |
5 |
87,214,114 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2696:Ugt2b36
|
UTSW |
5 |
87,237,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4626:Ugt2b36
|
UTSW |
5 |
87,239,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4700:Ugt2b36
|
UTSW |
5 |
87,240,301 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4731:Ugt2b36
|
UTSW |
5 |
87,229,397 (GRCm39) |
nonsense |
probably null |
|
|
R4732:Ugt2b36
|
UTSW |
5 |
87,229,397 (GRCm39) |
nonsense |
probably null |
|
|
R4733:Ugt2b36
|
UTSW |
5 |
87,229,397 (GRCm39) |
nonsense |
probably null |
|
|
R4922:Ugt2b36
|
UTSW |
5 |
87,214,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5217:Ugt2b36
|
UTSW |
5 |
87,214,114 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5244:Ugt2b36
|
UTSW |
5 |
87,239,765 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5341:Ugt2b36
|
UTSW |
5 |
87,240,087 (GRCm39) |
nonsense |
probably null |
|
|
R5478:Ugt2b36
|
UTSW |
5 |
87,237,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5572:Ugt2b36
|
UTSW |
5 |
87,237,341 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5722:Ugt2b36
|
UTSW |
5 |
87,240,297 (GRCm39) |
nonsense |
probably null |
|
|
R5961:Ugt2b36
|
UTSW |
5 |
87,228,724 (GRCm39) |
splice site |
probably null |
|
|
R6034:Ugt2b36
|
UTSW |
5 |
87,229,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Ugt2b36
|
UTSW |
5 |
87,229,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6139:Ugt2b36
|
UTSW |
5 |
87,240,030 (GRCm39) |
missense |
probably benign |
|
|
R6145:Ugt2b36
|
UTSW |
5 |
87,214,072 (GRCm39) |
missense |
probably benign |
|
|
R6226:Ugt2b36
|
UTSW |
5 |
87,239,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6531:Ugt2b36
|
UTSW |
5 |
87,229,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6704:Ugt2b36
|
UTSW |
5 |
87,239,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6895:Ugt2b36
|
UTSW |
5 |
87,240,157 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7218:Ugt2b36
|
UTSW |
5 |
87,229,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7258:Ugt2b36
|
UTSW |
5 |
87,228,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7310:Ugt2b36
|
UTSW |
5 |
87,214,138 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7650:Ugt2b36
|
UTSW |
5 |
87,228,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7707:Ugt2b36
|
UTSW |
5 |
87,229,367 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7866:Ugt2b36
|
UTSW |
5 |
87,240,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7967:Ugt2b36
|
UTSW |
5 |
87,214,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7985:Ugt2b36
|
UTSW |
5 |
87,239,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8098:Ugt2b36
|
UTSW |
5 |
87,240,252 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8123:Ugt2b36
|
UTSW |
5 |
87,240,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9294:Ugt2b36
|
UTSW |
5 |
87,228,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9577:Ugt2b36
|
UTSW |
5 |
87,228,784 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9630:Ugt2b36
|
UTSW |
5 |
87,239,773 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
| Posted On |
2013-10-07 |
Incidental Mutation