Incidental Mutation 'R6491:Ugt2b5'
| ID |
522859 |
| 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 |
044623-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R6491 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
87272819-87288177 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 87273328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 446
(L446*)
|
| 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: L446*
|
| SMART Domains |
Protein: ENSMUSP00000068282
Gene: ENSMUSG00000054630
AA Change: L446*
| 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 |
0.9653 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
C |
13: 119,612,508 (GRCm39) |
L431P |
probably damaging |
Het |
| Acad10 |
A |
C |
5: 121,768,220 (GRCm39) |
W779G |
probably damaging |
Het |
| Acrbp |
A |
G |
6: 125,028,442 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,827,459 (GRCm39) |
A565T |
probably benign |
Het |
| Ap2a1 |
A |
T |
7: 44,565,588 (GRCm39) |
I93K |
probably damaging |
Het |
| Arnt |
T |
A |
3: 95,383,454 (GRCm39) |
M240K |
probably damaging |
Het |
| Ceacam12 |
A |
T |
7: 17,803,185 (GRCm39) |
K197M |
probably damaging |
Het |
| Cep41 |
T |
C |
6: 30,656,483 (GRCm39) |
N323S |
probably benign |
Het |
| Dst |
A |
G |
1: 34,232,093 (GRCm39) |
T2904A |
probably benign |
Het |
| Eml1 |
G |
A |
12: 108,479,330 (GRCm39) |
|
probably null |
Het |
| Fbln2 |
A |
G |
6: 91,236,732 (GRCm39) |
N749S |
possibly damaging |
Het |
| Irf2bpl |
A |
G |
12: 86,930,238 (GRCm39) |
V145A |
probably benign |
Het |
| Itga2b |
T |
C |
11: 102,350,695 (GRCm39) |
|
probably null |
Het |
| Itga8 |
T |
C |
2: 12,209,587 (GRCm39) |
D466G |
probably damaging |
Het |
| Kdm4c |
G |
T |
4: 74,291,873 (GRCm39) |
C830F |
probably damaging |
Het |
| Mrps27 |
T |
C |
13: 99,499,538 (GRCm39) |
S73P |
probably damaging |
Het |
| Mtdh |
T |
G |
15: 34,116,473 (GRCm39) |
N17K |
probably damaging |
Het |
| Muc3a |
A |
G |
5: 137,246,591 (GRCm39) |
S9P |
probably benign |
Het |
| Or8b46 |
A |
G |
9: 38,558,751 (GRCm39) |
L23P |
probably damaging |
Het |
| Oxgr1 |
T |
A |
14: 120,259,419 (GRCm39) |
I263F |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,311,923 (GRCm39) |
|
|
Het |
| Ppp2r5d |
A |
G |
17: 46,996,509 (GRCm39) |
F388S |
probably damaging |
Het |
| Pxmp4 |
A |
G |
2: 154,434,083 (GRCm39) |
|
probably null |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,267,109 (GRCm39) |
N270S |
possibly damaging |
Het |
| Slc7a14 |
T |
C |
3: 31,278,093 (GRCm39) |
Y504C |
probably damaging |
Het |
| Snx9 |
A |
G |
17: 5,970,437 (GRCm39) |
D391G |
probably benign |
Het |
| St18 |
T |
A |
1: 6,898,209 (GRCm39) |
Y670* |
probably null |
Het |
| Tjp1 |
A |
T |
7: 64,986,865 (GRCm39) |
F207I |
possibly damaging |
Het |
| Trappc3 |
A |
G |
4: 126,169,022 (GRCm39) |
I171V |
probably benign |
Het |
| Vmn2r105 |
A |
T |
17: 20,447,992 (GRCm39) |
Y277* |
probably null |
Het |
| Vmn2r11 |
A |
T |
5: 109,196,800 (GRCm39) |
N557K |
possibly damaging |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zfp938 |
A |
G |
10: 82,063,363 (GRCm39) |
*65Q |
probably null |
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 |
|
R4355:Ugt2b5
|
UTSW |
5 |
87,287,622 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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'- AAGAGGCACTTTACACTAAGGAC -3'
(R):5'- TGCTTCTCTGTAAAATTTGGACCCC -3'
Sequencing Primer
(F):5'- CACTAAGGACTATAGTGGTTGCC -3'
(R):5'- GGTCATAGGACAGCTCAAT -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation