Incidental Mutation 'R8384:Ugt2b5'
ID |
647071 |
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 |
067750-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R8384 (G1)
|
Quality Score |
151.008 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
87272819-87288177 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87287924 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 81
(V81A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068282
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067790]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067790
AA Change: V81A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000068282 Gene: ENSMUSG00000054630 AA Change: V81A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
T |
C |
11: 72,057,591 (GRCm39) |
D736G |
probably benign |
Het |
Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
Col6a6 |
C |
T |
9: 105,632,893 (GRCm39) |
G1457D |
probably damaging |
Het |
Colec11 |
A |
T |
12: 28,644,658 (GRCm39) |
*279R |
probably null |
Het |
Ctnnbl1 |
A |
T |
2: 157,659,980 (GRCm39) |
E278V |
probably benign |
Het |
Cyp24a1 |
A |
G |
2: 170,328,689 (GRCm39) |
|
probably null |
Het |
Dpp6 |
A |
T |
5: 27,923,472 (GRCm39) |
Y694F |
probably benign |
Het |
Eif5 |
A |
G |
12: 111,506,239 (GRCm39) |
E26G |
possibly damaging |
Het |
Fhdc1 |
T |
C |
3: 84,362,306 (GRCm39) |
I305V |
possibly damaging |
Het |
Flvcr2 |
T |
C |
12: 85,842,967 (GRCm39) |
F347S |
possibly damaging |
Het |
Hacl1 |
A |
G |
14: 31,356,154 (GRCm39) |
|
probably null |
Het |
Hells |
A |
G |
19: 38,947,566 (GRCm39) |
T667A |
probably benign |
Het |
Idua |
A |
G |
5: 108,829,305 (GRCm39) |
T416A |
possibly damaging |
Het |
Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
Lnx2 |
G |
A |
5: 146,966,138 (GRCm39) |
A327V |
probably benign |
Het |
Macir |
A |
G |
1: 97,573,655 (GRCm39) |
C137R |
possibly damaging |
Het |
Mdn1 |
T |
C |
4: 32,765,680 (GRCm39) |
V5220A |
probably benign |
Het |
Mpst |
T |
A |
15: 78,297,775 (GRCm39) |
C264* |
probably null |
Het |
Msh5 |
A |
G |
17: 35,249,613 (GRCm39) |
L644P |
probably damaging |
Het |
Myo5b |
A |
G |
18: 74,875,273 (GRCm39) |
Y1533C |
probably damaging |
Het |
Naa38 |
A |
G |
11: 69,286,752 (GRCm39) |
E12G |
probably benign |
Het |
Obscn |
C |
A |
11: 58,975,935 (GRCm39) |
C2064F |
probably damaging |
Het |
Or5p51 |
A |
T |
7: 107,444,465 (GRCm39) |
N158K |
possibly damaging |
Het |
Or6c6 |
A |
T |
10: 129,186,695 (GRCm39) |
K88* |
probably null |
Het |
Pam16l |
A |
T |
10: 43,400,347 (GRCm39) |
I34F |
probably damaging |
Het |
Ralgds |
G |
T |
2: 28,437,182 (GRCm39) |
A534S |
probably damaging |
Het |
Rgs22 |
A |
T |
15: 36,046,158 (GRCm39) |
|
probably null |
Het |
Serpinb3c |
T |
C |
1: 107,199,697 (GRCm39) |
T275A |
probably benign |
Het |
Slc7a13 |
T |
C |
4: 19,823,984 (GRCm39) |
V251A |
probably damaging |
Het |
Snx14 |
C |
A |
9: 88,285,333 (GRCm39) |
E444* |
probably null |
Het |
Sspo |
G |
T |
6: 48,459,598 (GRCm39) |
W3319L |
probably damaging |
Het |
Usp6nl |
A |
G |
2: 6,432,604 (GRCm39) |
I326V |
possibly damaging |
Het |
Zcchc17 |
T |
C |
4: 130,210,526 (GRCm39) |
K214E |
possibly damaging |
Het |
Zfp638 |
C |
A |
6: 83,956,747 (GRCm39) |
H1785N |
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 |
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 |
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 |
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'- TCCTGTAGCTTTGTCATGAGC -3'
(R):5'- TGCTGCTGCAGATAAGTTGC -3'
Sequencing Primer
(F):5'- TGTCATGAGCTCTTTGTTTGAAAC -3'
(R):5'- CTGCAGATAAGTTGCTGCTTCAGATC -3'
|
Posted On |
2020-09-02 |