Incidental Mutation 'R2272:Ugt2b36'
ID |
242549 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ugt2b36
|
Ensembl Gene |
ENSMUSG00000070704 |
Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B36 |
Synonyms |
|
MMRRC Submission |
040272-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R2272 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
87213786-87240414 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87214114 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 510
(V510A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092233
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094649]
[ENSMUST00000145617]
|
AlphaFold |
Q3UEP4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094649
AA Change: V510A
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000092233 Gene: ENSMUSG00000070704 AA Change: V510A
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: 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy10 |
A |
T |
1: 165,337,866 (GRCm39) |
E160V |
probably damaging |
Het |
Ago1 |
C |
A |
4: 126,347,443 (GRCm39) |
M435I |
probably benign |
Het |
Apol7b |
G |
A |
15: 77,307,910 (GRCm39) |
A195V |
probably damaging |
Het |
Arid3c |
T |
A |
4: 41,724,744 (GRCm39) |
I364F |
probably damaging |
Het |
Atg2b |
C |
T |
12: 105,604,267 (GRCm39) |
V1545I |
probably benign |
Het |
Atp4a |
C |
A |
7: 30,414,925 (GRCm39) |
S238* |
probably null |
Het |
Birc6 |
T |
C |
17: 74,909,966 (GRCm39) |
V1453A |
probably benign |
Het |
Bmal2 |
T |
C |
6: 146,723,612 (GRCm39) |
F314S |
probably damaging |
Het |
Brinp3 |
A |
G |
1: 146,777,142 (GRCm39) |
R530G |
possibly damaging |
Het |
Carnmt1 |
T |
C |
19: 18,680,734 (GRCm39) |
L336P |
probably damaging |
Het |
Cdh22 |
A |
T |
2: 164,985,767 (GRCm39) |
|
probably null |
Het |
Cdk5rap2 |
A |
C |
4: 70,184,915 (GRCm39) |
S1178R |
probably benign |
Het |
Cdkl3 |
T |
C |
11: 51,923,322 (GRCm39) |
V45A |
probably benign |
Het |
Cracr2a |
T |
A |
6: 127,584,261 (GRCm39) |
F107I |
probably damaging |
Het |
Cyfip1 |
G |
T |
7: 55,549,705 (GRCm39) |
R624L |
probably null |
Het |
Ddc |
T |
C |
11: 11,785,764 (GRCm39) |
N308D |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,808,530 (GRCm39) |
N195S |
probably benign |
Het |
Dnah9 |
T |
C |
11: 66,003,188 (GRCm39) |
D872G |
probably benign |
Het |
Fmo1 |
A |
T |
1: 162,661,424 (GRCm39) |
D286E |
probably damaging |
Het |
Fmo4 |
A |
T |
1: 162,626,616 (GRCm39) |
I310N |
possibly damaging |
Het |
Garin5b |
T |
A |
7: 4,761,186 (GRCm39) |
T509S |
probably benign |
Het |
Hydin |
A |
T |
8: 111,035,764 (GRCm39) |
I152L |
probably benign |
Het |
Itpr1 |
T |
A |
6: 108,470,716 (GRCm39) |
C2214S |
probably damaging |
Het |
Kcnq3 |
T |
A |
15: 65,900,529 (GRCm39) |
D242V |
probably damaging |
Het |
Klhl1 |
T |
C |
14: 96,755,344 (GRCm39) |
D137G |
probably benign |
Het |
Lama5 |
T |
C |
2: 179,820,396 (GRCm39) |
D3282G |
possibly damaging |
Het |
Lhx8 |
A |
G |
3: 154,022,399 (GRCm39) |
L254S |
probably damaging |
Het |
Lipa |
T |
A |
19: 34,488,290 (GRCm39) |
R119* |
probably null |
Het |
Matn4 |
A |
T |
2: 164,239,162 (GRCm39) |
C232S |
possibly damaging |
Het |
Mios |
C |
T |
6: 8,226,865 (GRCm39) |
R614C |
possibly damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Muc6 |
T |
A |
7: 141,217,423 (GRCm39) |
T2417S |
possibly damaging |
Het |
Mycbp2 |
T |
C |
14: 103,381,774 (GRCm39) |
H3612R |
probably null |
Het |
Myo5b |
G |
T |
18: 74,866,996 (GRCm39) |
L1382F |
probably damaging |
Het |
Myo7b |
C |
T |
18: 32,110,096 (GRCm39) |
S1122N |
probably benign |
Het |
Myo9a |
T |
A |
9: 59,722,584 (GRCm39) |
F549I |
probably damaging |
Het |
Ncbp2 |
T |
C |
16: 31,775,769 (GRCm39) |
Y138H |
probably damaging |
Het |
Neil1 |
A |
G |
9: 57,054,069 (GRCm39) |
S84P |
probably damaging |
Het |
Nfix |
A |
G |
8: 85,453,804 (GRCm39) |
I256T |
probably damaging |
Het |
Nlrp4f |
A |
T |
13: 65,342,222 (GRCm39) |
D474E |
probably benign |
Het |
Or5ac21 |
T |
G |
16: 59,123,807 (GRCm39) |
M98R |
possibly damaging |
Het |
Or8b12i |
T |
A |
9: 20,082,705 (GRCm39) |
H54L |
possibly damaging |
Het |
Pcnx1 |
T |
C |
12: 82,042,088 (GRCm39) |
V2240A |
probably benign |
Het |
Per3 |
T |
A |
4: 151,103,342 (GRCm39) |
Y530F |
probably damaging |
Het |
Pes1 |
C |
A |
11: 3,919,524 (GRCm39) |
L66I |
probably damaging |
Het |
Pramel22 |
G |
A |
4: 143,380,712 (GRCm39) |
T437I |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,472,681 (GRCm39) |
|
probably null |
Het |
Prpf8 |
T |
A |
11: 75,386,189 (GRCm39) |
V946E |
probably damaging |
Het |
Prrc1 |
G |
T |
18: 57,514,718 (GRCm39) |
D312Y |
probably damaging |
Het |
Prss54 |
C |
T |
8: 96,297,735 (GRCm39) |
W45* |
probably null |
Het |
Psg29 |
A |
T |
7: 16,944,621 (GRCm39) |
N377I |
probably benign |
Het |
Rab3gap2 |
T |
A |
1: 185,015,739 (GRCm39) |
|
probably null |
Het |
Serpinb9c |
C |
T |
13: 33,338,524 (GRCm39) |
G125E |
probably damaging |
Het |
Skint4 |
A |
G |
4: 111,977,065 (GRCm39) |
T152A |
probably benign |
Het |
Slc26a2 |
A |
G |
18: 61,331,650 (GRCm39) |
C594R |
possibly damaging |
Het |
Slc47a2 |
A |
T |
11: 61,219,352 (GRCm39) |
|
probably null |
Het |
Ttc39d |
A |
G |
17: 80,524,675 (GRCm39) |
K445E |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,594,864 (GRCm39) |
E20394V |
probably damaging |
Het |
Usf1 |
T |
C |
1: 171,245,628 (GRCm39) |
L291P |
possibly damaging |
Het |
Usp7 |
T |
C |
16: 8,516,333 (GRCm39) |
S649G |
probably benign |
Het |
Vmn1r172 |
A |
C |
7: 23,359,616 (GRCm39) |
D167A |
probably damaging |
Het |
Wnt10b |
T |
A |
15: 98,672,228 (GRCm39) |
Q163L |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGTAGCCCCAGAATTATATGTG -3'
(R):5'- TCACCATGACCAGCCTATGAAG -3'
Sequencing Primer
(F):5'- GTAGCCCCAGAATTATATGTGTTTTG -3'
(R):5'- CTATGAAGCCCCTGGACAGAG -3'
|
Posted On |
2014-10-16 |