Incidental Mutation 'R4355:Ugt2b5'
| ID |
327481 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt2b5
|
| Ensembl Gene |
ENSMUSG00000054630 |
| Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B5 |
| Synonyms |
Udpgt-3, m-1 |
| MMRRC Submission |
041108-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R4355 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
87272819-87288177 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 87287622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 182
(E182*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067790]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000067790
AA Change: E182*
|
| SMART Domains |
Protein: ENSMUSP00000068282
Gene: ENSMUSG00000054630
AA Change: E182*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
24 |
527 |
7.9e-256 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
352 |
449 |
5.3e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.9715 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
T |
G |
8: 44,023,222 (GRCm39) |
Q89H |
probably benign |
Het |
| Adgrb1 |
T |
C |
15: 74,415,511 (GRCm39) |
F697S |
probably damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,544,788 (GRCm39) |
V769E |
probably damaging |
Het |
| Aldh7a1 |
A |
T |
18: 56,681,566 (GRCm39) |
F173L |
probably null |
Het |
| Bcl3 |
G |
T |
7: 19,545,505 (GRCm39) |
C208* |
probably null |
Het |
| Bmal1 |
A |
G |
7: 112,902,613 (GRCm39) |
I421V |
possibly damaging |
Het |
| Casz1 |
T |
C |
4: 149,036,792 (GRCm39) |
S1685P |
unknown |
Het |
| Cep250 |
A |
G |
2: 155,833,445 (GRCm39) |
E1789G |
probably damaging |
Het |
| Cep76 |
A |
T |
18: 67,759,710 (GRCm39) |
D334E |
probably benign |
Het |
| Clca3b |
A |
T |
3: 144,531,219 (GRCm39) |
|
probably null |
Het |
| Col9a3 |
A |
G |
2: 180,248,271 (GRCm39) |
S208G |
probably benign |
Het |
| Ddx47 |
T |
C |
6: 134,998,468 (GRCm39) |
V388A |
probably benign |
Het |
| Dync1h1 |
C |
T |
12: 110,599,333 (GRCm39) |
A1896V |
possibly damaging |
Het |
| Eif2ak2 |
T |
A |
17: 79,165,963 (GRCm39) |
R411S |
probably benign |
Het |
| F7 |
A |
G |
8: 13,084,774 (GRCm39) |
T267A |
probably benign |
Het |
| Fras1 |
C |
A |
5: 96,848,101 (GRCm39) |
D1770E |
probably benign |
Het |
| G2e3 |
T |
A |
12: 51,412,120 (GRCm39) |
Y387N |
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,256,729 (GRCm39) |
L1491F |
probably damaging |
Het |
| Ighv3-4 |
T |
C |
12: 114,217,260 (GRCm39) |
I110M |
probably benign |
Het |
| Itgb5 |
T |
A |
16: 33,665,367 (GRCm39) |
C28S |
probably damaging |
Het |
| Itprid2 |
A |
G |
2: 79,472,342 (GRCm39) |
N132S |
probably benign |
Het |
| Kbtbd11 |
C |
A |
8: 15,078,578 (GRCm39) |
N392K |
probably damaging |
Het |
| Kcnmb4 |
A |
G |
10: 116,309,189 (GRCm39) |
S80P |
possibly damaging |
Het |
| Kif21a |
C |
T |
15: 90,855,036 (GRCm39) |
C721Y |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klrc3 |
T |
C |
6: 129,616,125 (GRCm39) |
M189V |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,368,884 (GRCm39) |
E394V |
possibly damaging |
Het |
| Mrgprb4 |
C |
T |
7: 47,848,449 (GRCm39) |
G160R |
possibly damaging |
Het |
| Myb |
A |
G |
10: 21,028,516 (GRCm39) |
S116P |
probably damaging |
Het |
| Nf2 |
G |
A |
11: 4,730,613 (GRCm39) |
Q513* |
probably null |
Het |
| Nmnat3 |
C |
T |
9: 98,292,205 (GRCm39) |
T150M |
possibly damaging |
Het |
| Obi1 |
A |
G |
14: 104,716,693 (GRCm39) |
V560A |
probably benign |
Het |
| Or11g27 |
T |
C |
14: 50,771,216 (GRCm39) |
C116R |
possibly damaging |
Het |
| Or12k8 |
C |
A |
2: 36,974,942 (GRCm39) |
V273F |
probably benign |
Het |
| Patj |
T |
G |
4: 98,538,691 (GRCm39) |
C210W |
possibly damaging |
Het |
| Pde3b |
A |
G |
7: 114,015,522 (GRCm39) |
H246R |
probably benign |
Het |
| Pnp2 |
A |
G |
14: 51,197,082 (GRCm39) |
H56R |
probably benign |
Het |
| Prkg1 |
A |
G |
19: 30,546,629 (GRCm39) |
|
probably benign |
Het |
| Rhbdf1 |
C |
T |
11: 32,166,236 (GRCm39) |
S8N |
probably damaging |
Het |
| Rimbp3 |
A |
G |
16: 17,027,556 (GRCm39) |
K327E |
possibly damaging |
Het |
| Rsph6a |
T |
A |
7: 18,801,003 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,664,698 (GRCm39) |
N3535S |
probably benign |
Het |
| Ston1 |
T |
G |
17: 88,944,436 (GRCm39) |
V614G |
probably damaging |
Het |
| Svep1 |
T |
A |
4: 58,138,695 (GRCm39) |
T466S |
possibly damaging |
Het |
| Tas2r109 |
A |
T |
6: 132,957,144 (GRCm39) |
I262N |
probably benign |
Het |
| Tmtc1 |
T |
C |
6: 148,256,596 (GRCm39) |
|
probably benign |
Het |
| Tshz2 |
G |
A |
2: 169,726,858 (GRCm39) |
E16K |
possibly damaging |
Het |
| Ufsp2 |
T |
A |
8: 46,438,502 (GRCm39) |
S193R |
possibly damaging |
Het |
| Usp43 |
A |
G |
11: 67,782,290 (GRCm39) |
V376A |
probably benign |
Het |
| Utp15 |
A |
T |
13: 98,395,755 (GRCm39) |
F76I |
possibly damaging |
Het |
| Wdr62 |
A |
C |
7: 29,941,673 (GRCm39) |
L1141R |
probably damaging |
Het |
| Zfp418 |
T |
A |
7: 7,175,161 (GRCm39) |
M18K |
probably benign |
Het |
|
| Other mutations in Ugt2b5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00702:Ugt2b5
|
APN |
5 |
87,273,078 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00742:Ugt2b5
|
APN |
5 |
87,275,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01527:Ugt2b5
|
APN |
5 |
87,284,068 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01530:Ugt2b5
|
APN |
5 |
87,285,104 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01637:Ugt2b5
|
APN |
5 |
87,287,759 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02371:Ugt2b5
|
APN |
5 |
87,275,535 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02993:Ugt2b5
|
APN |
5 |
87,285,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03114:Ugt2b5
|
APN |
5 |
87,276,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0372:Ugt2b5
|
UTSW |
5 |
87,288,117 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0568:Ugt2b5
|
UTSW |
5 |
87,285,224 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R0650:Ugt2b5
|
UTSW |
5 |
87,287,627 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1660:Ugt2b5
|
UTSW |
5 |
87,287,477 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1907:Ugt2b5
|
UTSW |
5 |
87,287,489 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1955:Ugt2b5
|
UTSW |
5 |
87,275,631 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2389:Ugt2b5
|
UTSW |
5 |
87,275,541 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2435:Ugt2b5
|
UTSW |
5 |
87,287,465 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2919:Ugt2b5
|
UTSW |
5 |
87,273,266 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2920:Ugt2b5
|
UTSW |
5 |
87,273,266 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4342:Ugt2b5
|
UTSW |
5 |
87,287,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4343:Ugt2b5
|
UTSW |
5 |
87,287,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4344:Ugt2b5
|
UTSW |
5 |
87,287,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4380:Ugt2b5
|
UTSW |
5 |
87,275,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4789:Ugt2b5
|
UTSW |
5 |
87,287,550 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4993:Ugt2b5
|
UTSW |
5 |
87,287,532 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5731:Ugt2b5
|
UTSW |
5 |
87,288,111 (GRCm39) |
nonsense |
probably null |
|
|
R6035:Ugt2b5
|
UTSW |
5 |
87,287,541 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6035:Ugt2b5
|
UTSW |
5 |
87,287,541 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6491:Ugt2b5
|
UTSW |
5 |
87,273,328 (GRCm39) |
nonsense |
probably null |
|
|
R7015:Ugt2b5
|
UTSW |
5 |
87,287,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7203:Ugt2b5
|
UTSW |
5 |
87,276,258 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7212:Ugt2b5
|
UTSW |
5 |
87,273,131 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7750:Ugt2b5
|
UTSW |
5 |
87,288,108 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8384:Ugt2b5
|
UTSW |
5 |
87,287,924 (GRCm39) |
missense |
probably benign |
|
|
R8465:Ugt2b5
|
UTSW |
5 |
87,287,518 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9336:Ugt2b5
|
UTSW |
5 |
87,285,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9678:Ugt2b5
|
UTSW |
5 |
87,273,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9682:Ugt2b5
|
UTSW |
5 |
87,287,522 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9727:Ugt2b5
|
UTSW |
5 |
87,288,165 (GRCm39) |
start codon destroyed |
probably damaging |
0.97 |
|
X0004:Ugt2b5
|
UTSW |
5 |
87,276,230 (GRCm39) |
nonsense |
probably null |
|
|
X0021:Ugt2b5
|
UTSW |
5 |
87,284,070 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGACTGATACTGATACCTTCTC -3'
(R):5'- TGCCAAGGGATACATGTTTGTC -3'
Sequencing Primer
(F):5'- CACTTGTGAAACTTAGGTTTTCAAGC -3'
(R):5'- GGGATACATGTTTGTCATATTCTCC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation