Incidental Mutation 'IGL01024:Ugt2b36'
ID |
53601 |
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: 0.097)
|
Stock # |
IGL01024
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
87213786-87240414 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 87228728 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120005
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094649]
[ENSMUST00000094649]
[ENSMUST00000132667]
[ENSMUST00000145617]
[ENSMUST00000145617]
|
AlphaFold |
Q3UEP4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000094649
|
SMART Domains |
Protein: ENSMUSP00000092233 Gene: ENSMUSG00000070704
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 null
Transcript: ENSMUST00000094649
|
SMART Domains |
Protein: ENSMUSP00000092233 Gene: ENSMUSG00000070704
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 benign
Transcript: ENSMUST00000132667
|
SMART Domains |
Protein: ENSMUSP00000123024 Gene: ENSMUSG00000070704
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 null
Transcript: ENSMUST00000145617
|
SMART Domains |
Protein: ENSMUSP00000120005 Gene: ENSMUSG00000070704
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 |
probably null
Transcript: ENSMUST00000145617
|
SMART Domains |
Protein: ENSMUSP00000120005 Gene: ENSMUSG00000070704
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810055G02Rik |
T |
C |
19: 3,767,040 (GRCm39) |
V209A |
probably benign |
Het |
Abca6 |
T |
A |
11: 110,087,968 (GRCm39) |
Y1053F |
probably benign |
Het |
Acot12 |
C |
T |
13: 91,929,330 (GRCm39) |
Q386* |
probably null |
Het |
Adamts16 |
A |
G |
13: 70,943,603 (GRCm39) |
V336A |
probably benign |
Het |
Ankrd49 |
A |
G |
9: 14,694,099 (GRCm39) |
F23L |
probably damaging |
Het |
Aspm |
A |
T |
1: 139,405,862 (GRCm39) |
H1583L |
possibly damaging |
Het |
Atp6v0a1 |
A |
G |
11: 100,939,265 (GRCm39) |
I677V |
probably benign |
Het |
Brinp1 |
A |
T |
4: 68,680,731 (GRCm39) |
W600R |
probably damaging |
Het |
Ccdc185 |
T |
C |
1: 182,574,988 (GRCm39) |
E567G |
possibly damaging |
Het |
Clip2 |
T |
C |
5: 134,539,066 (GRCm39) |
D445G |
probably damaging |
Het |
Elp5 |
T |
C |
11: 69,859,248 (GRCm39) |
|
probably benign |
Het |
Gm9376 |
A |
G |
14: 118,504,570 (GRCm39) |
M1V |
probably null |
Het |
Gtf2a1l |
A |
G |
17: 88,978,719 (GRCm39) |
K40R |
probably damaging |
Het |
Hdc |
A |
G |
2: 126,445,766 (GRCm39) |
V246A |
probably benign |
Het |
Hectd2 |
T |
A |
19: 36,583,793 (GRCm39) |
F479L |
probably damaging |
Het |
Hipk1 |
G |
T |
3: 103,667,952 (GRCm39) |
N538K |
probably benign |
Het |
Kif27 |
T |
A |
13: 58,436,015 (GRCm39) |
E1259D |
possibly damaging |
Het |
Klhdc2 |
T |
A |
12: 69,352,610 (GRCm39) |
N256K |
probably benign |
Het |
Krt71 |
C |
T |
15: 101,645,109 (GRCm39) |
A401T |
probably damaging |
Het |
Mapk3 |
A |
T |
7: 126,363,946 (GRCm39) |
K312* |
probably null |
Het |
Med12l |
G |
T |
3: 58,980,762 (GRCm39) |
S365I |
probably damaging |
Het |
Mgam |
A |
G |
6: 40,619,944 (GRCm39) |
K11R |
probably benign |
Het |
Nox3 |
A |
T |
17: 3,733,290 (GRCm39) |
I187N |
probably damaging |
Het |
Nudcd1 |
T |
A |
15: 44,284,222 (GRCm39) |
M55L |
probably benign |
Het |
Or1a1b |
A |
T |
11: 74,097,481 (GRCm39) |
L187Q |
probably damaging |
Het |
Or4f59 |
A |
T |
2: 111,872,716 (GRCm39) |
F220L |
probably benign |
Het |
Or8b57 |
A |
G |
9: 40,004,029 (GRCm39) |
S78P |
probably damaging |
Het |
Pard6g |
T |
C |
18: 80,123,037 (GRCm39) |
|
probably benign |
Het |
Pbrm1 |
G |
A |
14: 30,774,217 (GRCm39) |
R461H |
probably damaging |
Het |
Ppm1f |
C |
A |
16: 16,741,633 (GRCm39) |
T369K |
probably benign |
Het |
Ppp1r16b |
C |
T |
2: 158,582,736 (GRCm39) |
|
probably benign |
Het |
Pramel29 |
A |
T |
4: 143,935,045 (GRCm39) |
I232K |
possibly damaging |
Het |
Prom2 |
T |
C |
2: 127,383,059 (GRCm39) |
N61S |
probably benign |
Het |
Psmc2 |
T |
C |
5: 22,006,196 (GRCm39) |
|
probably benign |
Het |
Psme2 |
A |
G |
14: 55,825,893 (GRCm39) |
|
probably benign |
Het |
Ptprc |
T |
C |
1: 138,008,650 (GRCm39) |
H655R |
probably damaging |
Het |
Pxdn |
A |
C |
12: 30,037,098 (GRCm39) |
N292T |
probably damaging |
Het |
Rapgef2 |
T |
C |
3: 78,977,445 (GRCm39) |
I1301V |
probably benign |
Het |
Rnase11 |
T |
C |
14: 51,287,321 (GRCm39) |
I78V |
probably benign |
Het |
Rpl41 |
A |
G |
10: 128,384,246 (GRCm39) |
|
probably benign |
Het |
Sgf29 |
G |
A |
7: 126,264,103 (GRCm39) |
R56Q |
possibly damaging |
Het |
Sis |
A |
G |
3: 72,819,209 (GRCm39) |
L1449S |
probably damaging |
Het |
Slc34a2 |
T |
A |
5: 53,224,972 (GRCm39) |
V371D |
possibly damaging |
Het |
Son |
C |
A |
16: 91,452,798 (GRCm39) |
T515K |
probably damaging |
Het |
Tbx15 |
A |
T |
3: 99,223,562 (GRCm39) |
D250V |
probably damaging |
Het |
Thoc2l |
T |
G |
5: 104,669,612 (GRCm39) |
V1378G |
probably benign |
Het |
Tmem171 |
T |
A |
13: 98,823,026 (GRCm39) |
|
probably null |
Het |
Vill |
G |
A |
9: 118,899,418 (GRCm39) |
|
probably null |
Het |
Vmn2r22 |
A |
G |
6: 123,615,012 (GRCm39) |
F193L |
probably damaging |
Het |
Vmn2r95 |
C |
T |
17: 18,672,590 (GRCm39) |
|
probably benign |
Het |
Vstm2a |
T |
A |
11: 16,231,874 (GRCm39) |
V223D |
possibly damaging |
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 |
IGL01295:Ugt2b36
|
APN |
5 |
87,228,744 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01331:Ugt2b36
|
APN |
5 |
87,238,801 (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 |
2013-06-28 |