Incidental Mutation 'R2389:Ugt2b5'
| ID |
247733 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt2b5
|
| Ensembl Gene |
ENSMUSG00000054630 |
| Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B5 |
| Synonyms |
Udpgt-3, m-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R2389 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
87272819-87288177 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87275541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 437
(P437S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067790]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067790
AA Change: P437S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000068282
Gene: ENSMUSG00000054630
AA Change: P437S
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113327
AA Change: P448S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108953
Gene: ENSMUSG00000054630
AA Change: P448S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UDPGT
|
35 |
538 |
1.3e-259 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
341 |
460 |
4.3e-8 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr5 |
T |
C |
2: 158,467,132 (GRCm39) |
V24A |
probably benign |
Het |
| Adrm1 |
C |
A |
2: 179,816,116 (GRCm39) |
|
probably benign |
Het |
| Cdk13 |
T |
A |
13: 17,926,361 (GRCm39) |
H813L |
probably damaging |
Het |
| Cdkal1 |
T |
A |
13: 29,736,219 (GRCm39) |
H300L |
probably damaging |
Het |
| Cnksr1 |
T |
C |
4: 133,961,057 (GRCm39) |
I235V |
probably benign |
Het |
| Ctnnd1 |
T |
A |
2: 84,454,615 (GRCm39) |
Q11L |
probably null |
Het |
| Dync2h1 |
T |
C |
9: 7,122,618 (GRCm39) |
I2113V |
possibly damaging |
Het |
| Eng |
T |
C |
2: 32,547,684 (GRCm39) |
|
probably null |
Het |
| Gria2 |
A |
G |
3: 80,609,932 (GRCm39) |
W626R |
probably damaging |
Het |
| Kctd1 |
A |
G |
18: 15,195,268 (GRCm39) |
S452P |
possibly damaging |
Het |
| Kdm4c |
T |
C |
4: 74,252,107 (GRCm39) |
|
probably null |
Het |
| Kntc1 |
C |
T |
5: 123,919,255 (GRCm39) |
L845F |
probably damaging |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Nat8f7 |
C |
A |
6: 85,684,476 (GRCm39) |
M121I |
probably benign |
Het |
| Ppfibp1 |
A |
T |
6: 146,923,669 (GRCm39) |
H667L |
probably damaging |
Het |
| Pramel31 |
T |
A |
4: 144,089,983 (GRCm39) |
L341H |
probably damaging |
Het |
| Prss12 |
A |
G |
3: 123,280,670 (GRCm39) |
N452D |
possibly damaging |
Het |
| Rab17 |
T |
C |
1: 90,891,926 (GRCm39) |
T33A |
probably benign |
Het |
| Rxfp3 |
A |
G |
15: 11,036,770 (GRCm39) |
C201R |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 100,014,153 (GRCm39) |
Y2142C |
probably benign |
Het |
| Stx6 |
T |
C |
1: 155,073,164 (GRCm39) |
V225A |
possibly damaging |
Het |
| Usp13 |
A |
G |
3: 32,959,613 (GRCm39) |
K568R |
probably benign |
Het |
| Zan |
A |
G |
5: 137,474,642 (GRCm39) |
|
probably null |
Het |
| Zbtb8b |
T |
C |
4: 129,327,066 (GRCm39) |
E33G |
probably benign |
Het |
| Zcchc17 |
T |
A |
4: 130,220,997 (GRCm39) |
K185* |
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 |
|
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 |
|
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'- TAGTGAGGTAACCCAATCACAAAAG -3'
(R):5'- AGCCTTTGTAACTCATGGTGG -3'
Sequencing Primer
(F):5'- cccagaaacatagaacaacc -3'
(R):5'- GGGCCAATGGTGTCTACGAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation