Incidental Mutation 'R0568:Ugt2b5'
| ID |
46255 |
| 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 |
038759-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R0568 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
87272819-87288177 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
G to A
at 87285224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067790]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067790
|
| SMART Domains |
Protein: ENSMUSP00000068282
Gene: ENSMUSG00000054630
| 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 benign
Transcript: ENSMUST00000113327
|
| SMART Domains |
Protein: ENSMUSP00000108953
Gene: ENSMUSG00000054630
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.4%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat1 |
G |
A |
4: 49,451,003 (GRCm39) |
T36I |
possibly damaging |
Het |
| Adamts20 |
T |
C |
15: 94,189,594 (GRCm39) |
|
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 86,336,789 (GRCm39) |
L1558S |
probably damaging |
Het |
| Ap3b2 |
A |
G |
7: 81,114,377 (GRCm39) |
|
probably null |
Het |
| Bag2 |
T |
C |
1: 33,786,059 (GRCm39) |
M88V |
probably benign |
Het |
| Brms1l |
A |
G |
12: 55,908,173 (GRCm39) |
|
probably null |
Het |
| C8b |
A |
G |
4: 104,650,577 (GRCm39) |
I462V |
probably benign |
Het |
| Cfap410 |
C |
T |
10: 77,818,872 (GRCm39) |
T181I |
possibly damaging |
Het |
| Cfap410 |
A |
T |
10: 77,820,381 (GRCm39) |
*250C |
probably null |
Het |
| Cnpy4 |
A |
G |
5: 138,190,839 (GRCm39) |
E167G |
probably damaging |
Het |
| Copa |
T |
C |
1: 171,939,704 (GRCm39) |
V624A |
possibly damaging |
Het |
| Gm4553 |
G |
T |
7: 141,719,357 (GRCm39) |
P24T |
unknown |
Het |
| Gna12 |
A |
G |
5: 140,746,638 (GRCm39) |
V269A |
possibly damaging |
Het |
| Gtf2ird2 |
G |
T |
5: 134,240,083 (GRCm39) |
E302* |
probably null |
Het |
| Hmcn2 |
C |
A |
2: 31,305,248 (GRCm39) |
S3140R |
probably benign |
Het |
| Hspa4 |
A |
G |
11: 53,153,703 (GRCm39) |
|
probably benign |
Het |
| Hspbp1 |
A |
T |
7: 4,687,431 (GRCm39) |
L60* |
probably null |
Het |
| Lats1 |
A |
T |
10: 7,588,292 (GRCm39) |
I970F |
possibly damaging |
Het |
| Lipo3 |
T |
C |
19: 33,559,442 (GRCm39) |
|
probably benign |
Het |
| Lrrc3 |
T |
A |
10: 77,737,419 (GRCm39) |
R6W |
probably damaging |
Het |
| Lxn |
C |
T |
3: 67,368,335 (GRCm39) |
A143T |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,765,903 (GRCm39) |
I1390T |
probably damaging |
Het |
| Ncapg2 |
T |
A |
12: 116,386,835 (GRCm39) |
I286N |
probably damaging |
Het |
| Or4c107 |
T |
A |
2: 88,789,387 (GRCm39) |
Y192* |
probably null |
Het |
| Pitpnm2 |
A |
G |
5: 124,278,580 (GRCm39) |
|
probably benign |
Het |
| Plxna2 |
T |
C |
1: 194,433,694 (GRCm39) |
V581A |
probably benign |
Het |
| Polr3d |
A |
T |
14: 70,676,959 (GRCm39) |
H378Q |
possibly damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,637,631 (GRCm39) |
V173A |
probably damaging |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Smc4 |
T |
C |
3: 68,929,794 (GRCm39) |
|
probably null |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Syngr3 |
C |
T |
17: 24,905,555 (GRCm39) |
A140T |
probably benign |
Het |
| Tent2 |
A |
G |
13: 93,291,500 (GRCm39) |
S381P |
probably benign |
Het |
| Tprn |
T |
C |
2: 25,154,333 (GRCm39) |
V545A |
probably damaging |
Het |
| Trim66 |
T |
C |
7: 109,059,902 (GRCm39) |
H828R |
probably benign |
Het |
| Vps9d1 |
A |
G |
8: 123,973,487 (GRCm39) |
V432A |
probably damaging |
Het |
| Zswim9 |
A |
T |
7: 12,994,952 (GRCm39) |
D401E |
probably damaging |
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 |
|
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 |
|
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'- CCTTAGGCAAGGGTTTAGCAGGTTT -3'
(R):5'- GCCAGGATCAAGAGCATGTGAGAAT -3'
Sequencing Primer
(F):5'- TTGCAATGGAGTCCTCCAACATAG -3'
(R):5'- tgtgagtttgaagccagcc -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation