Incidental Mutation 'IGL02994:Ubox5'
| ID |
407066 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ubox5
|
| Ensembl Gene |
ENSMUSG00000027300 |
| Gene Name |
U box domain containing 5 |
| Synonyms |
1500010O06Rik, UIP5, C330018L13Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02994
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
130431922-130471958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 130442237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 150
(L150R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028761]
[ENSMUST00000140581]
|
| AlphaFold |
Q925F4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028761
AA Change: L150R
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000028761
Gene: ENSMUSG00000027300
AA Change: L150R
| Domain | Start | End | E-Value | Type |
|---|
|
Ubox
|
262 |
331 |
4.47e-15 |
SMART |
|
low complexity region
|
371 |
395 |
N/A |
INTRINSIC |
|
RING
|
481 |
525 |
3.14e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140581
|
| SMART Domains |
Protein: ENSMUSP00000114878
Gene: ENSMUSG00000027300
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAST_1
|
474 |
546 |
2.6e-27 |
PFAM |
|
Pfam:FAST_2
|
553 |
598 |
2.1e-10 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a U-box domain containing protein. The encoded protein interacts with E2 enzymes and may play a role in the ubiquitination pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp3 |
T |
A |
9: 104,186,602 (GRCm39) |
|
probably benign |
Het |
| Ahnak2 |
A |
G |
12: 112,749,827 (GRCm39) |
V137A |
probably damaging |
Het |
| Alk |
G |
T |
17: 72,256,815 (GRCm39) |
F681L |
probably benign |
Het |
| Ankrd35 |
T |
C |
3: 96,590,307 (GRCm39) |
|
probably benign |
Het |
| Aqp3 |
A |
T |
4: 41,093,614 (GRCm39) |
C267S |
probably benign |
Het |
| Arl13b |
T |
A |
16: 62,632,366 (GRCm39) |
I76F |
probably damaging |
Het |
| Ccn2 |
T |
A |
10: 24,472,763 (GRCm39) |
N224K |
probably damaging |
Het |
| Cdc42bpa |
G |
T |
1: 179,827,002 (GRCm39) |
R85L |
probably damaging |
Het |
| Dock4 |
T |
G |
12: 40,829,159 (GRCm39) |
I1015R |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,268,333 (GRCm39) |
|
probably benign |
Het |
| Egfr |
T |
C |
11: 16,861,811 (GRCm39) |
Y1197H |
probably damaging |
Het |
| Endod1 |
A |
G |
9: 14,268,183 (GRCm39) |
V434A |
possibly damaging |
Het |
| Exosc9 |
A |
G |
3: 36,607,287 (GRCm39) |
|
probably benign |
Het |
| Fgg |
G |
T |
3: 82,915,781 (GRCm39) |
R74L |
probably benign |
Het |
| Fmo2 |
A |
T |
1: 162,708,189 (GRCm39) |
D315E |
probably damaging |
Het |
| H2-M3 |
G |
A |
17: 37,581,629 (GRCm39) |
S97N |
probably benign |
Het |
| Ighv14-2 |
T |
A |
12: 113,958,211 (GRCm39) |
T77S |
probably benign |
Het |
| Klhl9 |
A |
T |
4: 88,639,434 (GRCm39) |
L269* |
probably null |
Het |
| Lin37 |
G |
A |
7: 30,256,585 (GRCm39) |
R84W |
probably damaging |
Het |
| Macroh2a1 |
T |
C |
13: 56,252,112 (GRCm39) |
|
probably benign |
Het |
| Mkln1 |
T |
C |
6: 31,467,378 (GRCm39) |
S31P |
probably damaging |
Het |
| Nacad |
A |
G |
11: 6,549,528 (GRCm39) |
L1221P |
possibly damaging |
Het |
| Nbr1 |
A |
T |
11: 101,447,053 (GRCm39) |
N13I |
probably damaging |
Het |
| Ndfip1 |
T |
C |
18: 38,585,469 (GRCm39) |
I161T |
probably damaging |
Het |
| Nsg1 |
A |
G |
5: 38,312,946 (GRCm39) |
|
probably benign |
Het |
| Rsbn1l |
G |
T |
5: 21,113,232 (GRCm39) |
T430K |
probably damaging |
Het |
| Serpina6 |
A |
G |
12: 103,620,210 (GRCm39) |
S180P |
probably benign |
Het |
| Slc4a5 |
T |
C |
6: 83,249,106 (GRCm39) |
L570P |
probably damaging |
Het |
| Tank |
A |
G |
2: 61,480,636 (GRCm39) |
|
probably benign |
Het |
| Tpd52 |
A |
G |
3: 9,012,590 (GRCm39) |
F76L |
probably benign |
Het |
| Zfp710 |
T |
C |
7: 79,731,581 (GRCm39) |
S253P |
probably benign |
Het |
|
| Other mutations in Ubox5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00538:Ubox5
|
APN |
2 |
130,441,808 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01947:Ubox5
|
APN |
2 |
130,442,579 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01978:Ubox5
|
APN |
2 |
130,442,372 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02252:Ubox5
|
APN |
2 |
130,441,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03150:Ubox5
|
APN |
2 |
130,442,060 (GRCm39) |
missense |
probably benign |
0.44 |
|
PIT4403001:Ubox5
|
UTSW |
2 |
130,442,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0792:Ubox5
|
UTSW |
2 |
130,442,630 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1344:Ubox5
|
UTSW |
2 |
130,442,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1418:Ubox5
|
UTSW |
2 |
130,442,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1436:Ubox5
|
UTSW |
2 |
130,439,213 (GRCm39) |
unclassified |
probably benign |
|
|
R1608:Ubox5
|
UTSW |
2 |
130,439,376 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1650:Ubox5
|
UTSW |
2 |
130,442,345 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1772:Ubox5
|
UTSW |
2 |
130,433,794 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2495:Ubox5
|
UTSW |
2 |
130,441,441 (GRCm39) |
nonsense |
probably null |
|
|
R4767:Ubox5
|
UTSW |
2 |
130,433,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5107:Ubox5
|
UTSW |
2 |
130,441,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8271:Ubox5
|
UTSW |
2 |
130,441,629 (GRCm39) |
missense |
probably benign |
|
|
R8290:Ubox5
|
UTSW |
2 |
130,442,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9330:Ubox5
|
UTSW |
2 |
130,442,165 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9599:Ubox5
|
UTSW |
2 |
130,441,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation