Incidental Mutation 'R4344:Ugt2b5'
| ID |
324259 |
| 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 |
041101-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R4344 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
87124960-87140318 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87139723 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 195
(V195E)
|
| 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: V195E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000068282
Gene: ENSMUSG00000054630
AA Change: V195E
| 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 |
0.7022 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (39/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
G |
T |
1: 25,826,748 |
R5S |
possibly damaging |
Het |
| Ccdc187 |
T |
A |
2: 26,280,669 |
K599I |
probably damaging |
Het |
| Cd38 |
A |
C |
5: 43,869,089 |
I72L |
probably benign |
Het |
| Cep19 |
C |
T |
16: 32,107,065 |
T97M |
probably damaging |
Het |
| Ces2a |
T |
G |
8: 104,737,134 |
D159E |
probably damaging |
Het |
| Dcc |
G |
A |
18: 71,374,490 |
A917V |
probably damaging |
Het |
| Dennd6b |
G |
A |
15: 89,188,663 |
A196V |
probably benign |
Het |
| Dlgap3 |
T |
C |
4: 127,214,348 |
S475P |
possibly damaging |
Het |
| Doc2a |
C |
T |
7: 126,851,149 |
P156S |
probably damaging |
Het |
| Elmo1 |
T |
A |
13: 20,261,552 |
|
probably null |
Het |
| Fbf1 |
A |
G |
11: 116,147,742 |
V851A |
probably benign |
Het |
| Fhdc1 |
C |
A |
3: 84,444,826 |
V1031F |
probably benign |
Het |
| Gm5878 |
G |
A |
6: 85,125,651 |
R31* |
probably null |
Het |
| Gm8251 |
G |
A |
1: 44,060,991 |
L316F |
possibly damaging |
Het |
| Klk1b8 |
C |
A |
7: 43,945,762 |
|
probably benign |
Het |
| Lmcd1 |
T |
A |
6: 112,288,007 |
|
probably benign |
Het |
| Lyst |
T |
A |
13: 13,698,466 |
I2750K |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,770,292 |
N2958S |
possibly damaging |
Het |
| Plod3 |
G |
C |
5: 136,988,146 |
A50P |
probably benign |
Het |
| Ppp1r16b |
G |
A |
2: 158,749,186 |
V163I |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,768,022 |
W2475R |
probably damaging |
Het |
| Rad54l |
C |
T |
4: 116,097,354 |
C684Y |
probably damaging |
Het |
| Ralgds |
T |
C |
2: 28,552,095 |
L96P |
probably damaging |
Het |
| Rasef |
T |
A |
4: 73,745,089 |
H167L |
probably damaging |
Het |
| Sh3bp2 |
T |
C |
5: 34,555,542 |
F165L |
possibly damaging |
Het |
| Slc38a9 |
T |
C |
13: 112,729,215 |
I482T |
probably benign |
Het |
| Tmprss6 |
T |
A |
15: 78,459,427 |
|
probably null |
Het |
| Trpm3 |
A |
T |
19: 22,897,697 |
S568C |
probably damaging |
Het |
| Ttc39c |
T |
A |
18: 12,728,610 |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,811,243 |
L5176Q |
possibly damaging |
Het |
| Vmn2r22 |
C |
T |
6: 123,637,797 |
G278D |
probably damaging |
Het |
| Wisp2 |
G |
A |
2: 163,828,986 |
V138M |
probably damaging |
Het |
| Yme1l1 |
G |
A |
2: 23,173,061 |
A215T |
probably benign |
Het |
| Zmynd15 |
C |
T |
11: 70,461,068 |
R38* |
probably null |
Het |
|
| Other mutations in Ugt2b5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00702:Ugt2b5
|
APN |
5 |
87,125,219 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL00742:Ugt2b5
|
APN |
5 |
87,127,814 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01527:Ugt2b5
|
APN |
5 |
87,136,209 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL01530:Ugt2b5
|
APN |
5 |
87,137,245 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL01637:Ugt2b5
|
APN |
5 |
87,139,900 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02371:Ugt2b5
|
APN |
5 |
87,127,676 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02993:Ugt2b5
|
APN |
5 |
87,137,232 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03114:Ugt2b5
|
APN |
5 |
87,128,350 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0372:Ugt2b5
|
UTSW |
5 |
87,140,258 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0568:Ugt2b5
|
UTSW |
5 |
87,137,365 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R0650:Ugt2b5
|
UTSW |
5 |
87,139,768 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1660:Ugt2b5
|
UTSW |
5 |
87,139,618 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1907:Ugt2b5
|
UTSW |
5 |
87,139,630 (GRCm38) |
missense |
probably benign |
0.19 |
|
R1955:Ugt2b5
|
UTSW |
5 |
87,127,772 (GRCm38) |
missense |
probably benign |
0.18 |
|
R2389:Ugt2b5
|
UTSW |
5 |
87,127,682 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2435:Ugt2b5
|
UTSW |
5 |
87,139,606 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2919:Ugt2b5
|
UTSW |
5 |
87,125,407 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R2920:Ugt2b5
|
UTSW |
5 |
87,125,407 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R4342:Ugt2b5
|
UTSW |
5 |
87,139,723 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4343:Ugt2b5
|
UTSW |
5 |
87,139,723 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4355:Ugt2b5
|
UTSW |
5 |
87,139,763 (GRCm38) |
nonsense |
probably null |
|
|
R4380:Ugt2b5
|
UTSW |
5 |
87,127,894 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4789:Ugt2b5
|
UTSW |
5 |
87,139,691 (GRCm38) |
missense |
probably benign |
0.14 |
|
R4993:Ugt2b5
|
UTSW |
5 |
87,139,673 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5731:Ugt2b5
|
UTSW |
5 |
87,140,252 (GRCm38) |
nonsense |
probably null |
|
|
R6035:Ugt2b5
|
UTSW |
5 |
87,139,682 (GRCm38) |
missense |
probably benign |
0.09 |
|
R6035:Ugt2b5
|
UTSW |
5 |
87,139,682 (GRCm38) |
missense |
probably benign |
0.09 |
|
R6491:Ugt2b5
|
UTSW |
5 |
87,125,469 (GRCm38) |
nonsense |
probably null |
|
|
R7015:Ugt2b5
|
UTSW |
5 |
87,139,796 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7203:Ugt2b5
|
UTSW |
5 |
87,128,399 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R7212:Ugt2b5
|
UTSW |
5 |
87,125,272 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7750:Ugt2b5
|
UTSW |
5 |
87,140,249 (GRCm38) |
missense |
probably benign |
0.11 |
|
R8384:Ugt2b5
|
UTSW |
5 |
87,140,065 (GRCm38) |
missense |
probably benign |
|
|
R8465:Ugt2b5
|
UTSW |
5 |
87,139,659 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R9336:Ugt2b5
|
UTSW |
5 |
87,137,271 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9678:Ugt2b5
|
UTSW |
5 |
87,125,327 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9682:Ugt2b5
|
UTSW |
5 |
87,139,663 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9727:Ugt2b5
|
UTSW |
5 |
87,140,306 (GRCm38) |
start codon destroyed |
probably damaging |
0.97 |
|
X0004:Ugt2b5
|
UTSW |
5 |
87,128,371 (GRCm38) |
nonsense |
probably null |
|
|
X0021:Ugt2b5
|
UTSW |
5 |
87,136,211 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGACTGATACTGATACCTTCTCCTG -3'
(R):5'- GCTCATGACAAAGCTACAGGAATCC -3'
Sequencing Primer
(F):5'- CACTTGTGAAACTTAGGTTTTCAAGC -3'
(R):5'- GCTACAGGAATCCAAGTTTGATGTCC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation