Incidental Mutation 'R5961:Ugt2b36'
| ID |
471821 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt2b36
|
| Ensembl Gene |
ENSMUSG00000070704 |
| Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B36 |
| Synonyms |
|
| MMRRC Submission |
043247-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R5961 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
87213786-87240414 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 87228724 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]
[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 |
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr4 |
A |
G |
9: 103,976,338 (GRCm39) |
L203P |
probably damaging |
Het |
| Aen |
C |
G |
7: 78,556,907 (GRCm39) |
H252D |
probably damaging |
Het |
| Alkbh6 |
T |
A |
7: 30,013,617 (GRCm39) |
|
probably null |
Het |
| Birc6 |
T |
C |
17: 74,953,596 (GRCm39) |
V3286A |
probably damaging |
Het |
| Cacna1h |
A |
G |
17: 25,596,246 (GRCm39) |
M1925T |
probably benign |
Het |
| Caprin2 |
A |
C |
6: 148,765,038 (GRCm39) |
S554R |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,708,993 (GRCm39) |
S1280P |
probably damaging |
Het |
| Cfap57 |
T |
C |
4: 118,428,942 (GRCm39) |
E1008G |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,120,366 (GRCm39) |
I1813T |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,888,546 (GRCm39) |
E3050G |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,321,974 (GRCm39) |
F3782S |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dnajc17 |
T |
C |
2: 119,016,527 (GRCm39) |
T64A |
possibly damaging |
Het |
| Dvl3 |
T |
G |
16: 20,349,729 (GRCm39) |
S567R |
possibly damaging |
Het |
| Epb41l1 |
T |
A |
2: 156,363,706 (GRCm39) |
S738R |
probably benign |
Het |
| Exph5 |
T |
C |
9: 53,288,555 (GRCm39) |
W1879R |
probably damaging |
Het |
| Fam83a |
T |
A |
15: 57,872,992 (GRCm39) |
F274I |
possibly damaging |
Het |
| Ggt1 |
A |
G |
10: 75,421,736 (GRCm39) |
|
probably null |
Het |
| Ido2 |
C |
T |
8: 25,023,786 (GRCm39) |
V351M |
probably damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,435,440 (GRCm39) |
E469G |
possibly damaging |
Het |
| Kdm2b |
A |
G |
5: 123,070,724 (GRCm39) |
S403P |
probably benign |
Het |
| Klhl2 |
C |
T |
8: 65,202,818 (GRCm39) |
R460H |
probably damaging |
Het |
| Mfsd6l |
A |
G |
11: 68,447,368 (GRCm39) |
Y73C |
possibly damaging |
Het |
| Mlec |
A |
T |
5: 115,288,159 (GRCm39) |
C205* |
probably null |
Het |
| Mlx |
T |
C |
11: 100,980,053 (GRCm39) |
Y129H |
probably damaging |
Het |
| Mmadhc |
T |
C |
2: 50,181,421 (GRCm39) |
H83R |
probably damaging |
Het |
| Mmp16 |
T |
C |
4: 17,853,842 (GRCm39) |
F41S |
probably benign |
Het |
| Mroh6 |
G |
A |
15: 75,759,617 (GRCm39) |
Q187* |
probably null |
Het |
| Myh14 |
T |
A |
7: 44,272,518 (GRCm39) |
E1437V |
probably damaging |
Het |
| Nrxn1 |
A |
C |
17: 90,762,371 (GRCm39) |
L37R |
probably damaging |
Het |
| Or6c209 |
T |
C |
10: 129,483,723 (GRCm39) |
M242T |
possibly damaging |
Het |
| Pkhd1l1 |
A |
C |
15: 44,322,859 (GRCm39) |
R48S |
probably damaging |
Het |
| Prokr2 |
A |
G |
2: 132,215,595 (GRCm39) |
Y128H |
possibly damaging |
Het |
| Prtg |
T |
C |
9: 72,764,228 (GRCm39) |
V567A |
probably benign |
Het |
| Rbis |
T |
C |
3: 14,676,124 (GRCm39) |
T26A |
possibly damaging |
Het |
| Srrm2 |
G |
A |
17: 24,039,083 (GRCm39) |
|
probably benign |
Het |
| Stat4 |
A |
T |
1: 52,104,543 (GRCm39) |
I115L |
possibly damaging |
Het |
| Tnxb |
G |
A |
17: 34,937,609 (GRCm39) |
V3833M |
probably damaging |
Het |
| Usp45 |
A |
C |
4: 21,810,797 (GRCm39) |
D331A |
probably damaging |
Het |
| Usp47 |
T |
C |
7: 111,652,523 (GRCm39) |
S47P |
probably damaging |
Het |
| Vps53 |
A |
G |
11: 75,939,316 (GRCm39) |
Y696H |
probably damaging |
Het |
| Zfp384 |
T |
C |
6: 125,000,997 (GRCm39) |
I23T |
probably damaging |
Het |
| Zfp804a |
A |
G |
2: 82,088,346 (GRCm39) |
Y725C |
probably benign |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTCAAGCAGTGTAGAGGATG -3'
(R):5'- CTCTACGAGGCGATCCATCATG -3'
Sequencing Primer
(F):5'- GCAGAGTTTTATATTTAAGATGGTGC -3'
(R):5'- CATCATGGAATCCCTATGATTGGC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation