Incidental Mutation 'IGL03150:Ubox5'
| ID |
411068 |
| 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 # |
IGL03150
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
130431922-130471958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 130442060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 209
(V209A)
|
| 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: V209A
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000028761
Gene: ENSMUSG00000027300
AA Change: V209A
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
C |
T |
8: 60,996,596 (GRCm39) |
S399L |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,002,215 (GRCm39) |
S1387P |
probably damaging |
Het |
| Corin |
T |
C |
5: 72,460,201 (GRCm39) |
D886G |
probably damaging |
Het |
| Cracd |
G |
A |
5: 77,015,097 (GRCm39) |
E57K |
probably damaging |
Het |
| Eif2ak3 |
A |
T |
6: 70,869,420 (GRCm39) |
K702N |
possibly damaging |
Het |
| Ercc6 |
G |
T |
14: 32,280,531 (GRCm39) |
M709I |
probably damaging |
Het |
| Foxa1 |
T |
A |
12: 57,589,082 (GRCm39) |
E379D |
probably benign |
Het |
| Fscb |
C |
T |
12: 64,519,204 (GRCm39) |
G754D |
unknown |
Het |
| Gzmb |
C |
T |
14: 56,497,839 (GRCm39) |
V134I |
probably benign |
Het |
| Iho1 |
G |
T |
9: 108,282,155 (GRCm39) |
T511K |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,419,246 (GRCm39) |
T4010A |
possibly damaging |
Het |
| Necab3 |
A |
G |
2: 154,396,662 (GRCm39) |
Y55H |
probably damaging |
Het |
| Nova1 |
T |
C |
12: 46,747,455 (GRCm39) |
N274S |
possibly damaging |
Het |
| Nup54 |
C |
A |
5: 92,576,023 (GRCm39) |
G156V |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,942,549 (GRCm39) |
C4317S |
probably damaging |
Het |
| Papln |
T |
A |
12: 83,829,758 (GRCm39) |
W960R |
probably damaging |
Het |
| Pax4 |
C |
A |
6: 28,444,338 (GRCm39) |
G239W |
probably null |
Het |
| Pcdhb15 |
C |
A |
18: 37,608,067 (GRCm39) |
T433N |
probably damaging |
Het |
| Ptprj |
A |
G |
2: 90,290,955 (GRCm39) |
S502P |
probably damaging |
Het |
| Slit3 |
A |
G |
11: 35,399,084 (GRCm39) |
R150G |
possibly damaging |
Het |
| Srgap2 |
A |
T |
1: 131,238,338 (GRCm39) |
V658E |
probably damaging |
Het |
| Taar7e |
A |
T |
10: 23,913,528 (GRCm39) |
D6V |
probably benign |
Het |
| Trim25 |
T |
C |
11: 88,890,831 (GRCm39) |
C173R |
probably damaging |
Het |
| Trmt1l |
T |
C |
1: 151,329,643 (GRCm39) |
S529P |
probably benign |
Het |
| Ubn2 |
C |
T |
6: 38,440,649 (GRCm39) |
P174S |
probably benign |
Het |
| Vmn2r72 |
A |
G |
7: 85,400,384 (GRCm39) |
F222L |
probably damaging |
Het |
| Xpot |
C |
T |
10: 121,445,091 (GRCm39) |
A374T |
probably benign |
Het |
| Zfp451 |
A |
G |
1: 33,816,535 (GRCm39) |
C472R |
probably damaging |
Het |
| Zfp777 |
A |
G |
6: 48,021,059 (GRCm39) |
W232R |
probably damaging |
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 |
|
IGL02994:Ubox5
|
APN |
2 |
130,442,237 (GRCm39) |
missense |
probably benign |
0.13 |
|
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