Incidental Mutation 'IGL00545:Ubxn4'
| ID |
14694 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ubxn4
|
| Ensembl Gene |
ENSMUSG00000026353 |
| Gene Name |
UBX domain protein 4 |
| Synonyms |
Ubxd2, 1300013G12Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.420)
|
| Stock # |
IGL00545
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
128171701-128207115 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128187202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 65
(D65G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141085
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027592]
[ENSMUST00000190736]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027592
AA Change: D176G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000027592
Gene: ENSMUSG00000026353
AA Change: D176G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
191 |
290 |
N/A |
INTRINSIC |
|
UBX
|
309 |
393 |
5.63e-32 |
SMART |
|
low complexity region
|
444 |
460 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187031
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190736
AA Change: D65G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] UBXD2 is an integral membrane protein of the endoplasmic reticulum (ER) that binds valosin-containing protein (VCP; MIM 601023) and promotes ER-associated protein degradation (ERAD) (Liang et al., 2006 [PubMed 16968747]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
A |
T |
8: 44,105,227 (GRCm39) |
N139K |
possibly damaging |
Het |
| Ano10 |
A |
G |
9: 122,090,422 (GRCm39) |
V105A |
possibly damaging |
Het |
| Cep44 |
A |
T |
8: 57,000,435 (GRCm39) |
V26E |
probably damaging |
Het |
| Cpne8 |
A |
G |
15: 90,424,462 (GRCm39) |
V309A |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,496,905 (GRCm39) |
I3117T |
possibly damaging |
Het |
| Efna1 |
T |
A |
3: 89,180,123 (GRCm39) |
N91I |
probably benign |
Het |
| Golph3 |
G |
A |
15: 12,339,757 (GRCm39) |
R90H |
probably damaging |
Het |
| Hps3 |
G |
T |
3: 20,073,971 (GRCm39) |
L332I |
possibly damaging |
Het |
| Marchf5 |
C |
T |
19: 37,194,624 (GRCm39) |
S94L |
probably benign |
Het |
| Mrpl46 |
T |
A |
7: 78,432,724 (GRCm39) |
Q18L |
probably benign |
Het |
| Nfe2l1 |
A |
G |
11: 96,708,542 (GRCm39) |
V741A |
probably benign |
Het |
| Nlrp2 |
C |
T |
7: 5,331,251 (GRCm39) |
A382T |
possibly damaging |
Het |
| Pdgfd |
C |
T |
9: 6,288,621 (GRCm39) |
Q92* |
probably null |
Het |
| Zfp119b |
A |
C |
17: 56,246,270 (GRCm39) |
H305Q |
probably damaging |
Het |
|
| Other mutations in Ubxn4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02302:Ubxn4
|
APN |
1 |
128,183,848 (GRCm39) |
intron |
probably benign |
|
|
IGL03066:Ubxn4
|
APN |
1 |
128,188,591 (GRCm39) |
splice site |
probably null |
|
|
E0370:Ubxn4
|
UTSW |
1 |
128,190,641 (GRCm39) |
missense |
probably benign |
0.23 |
|
P4748:Ubxn4
|
UTSW |
1 |
128,190,641 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0008:Ubxn4
|
UTSW |
1 |
128,190,641 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0086:Ubxn4
|
UTSW |
1 |
128,190,641 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0087:Ubxn4
|
UTSW |
1 |
128,190,641 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0220:Ubxn4
|
UTSW |
1 |
128,183,931 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0244:Ubxn4
|
UTSW |
1 |
128,190,641 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0464:Ubxn4
|
UTSW |
1 |
128,190,641 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0465:Ubxn4
|
UTSW |
1 |
128,190,641 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0466:Ubxn4
|
UTSW |
1 |
128,190,641 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0467:Ubxn4
|
UTSW |
1 |
128,190,641 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0658:Ubxn4
|
UTSW |
1 |
128,190,641 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1430:Ubxn4
|
UTSW |
1 |
128,202,617 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1623:Ubxn4
|
UTSW |
1 |
128,200,588 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1700:Ubxn4
|
UTSW |
1 |
128,180,023 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1764:Ubxn4
|
UTSW |
1 |
128,183,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2128:Ubxn4
|
UTSW |
1 |
128,172,247 (GRCm39) |
missense |
probably benign |
|
|
R2472:Ubxn4
|
UTSW |
1 |
128,200,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4610:Ubxn4
|
UTSW |
1 |
128,183,186 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4651:Ubxn4
|
UTSW |
1 |
128,202,587 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4652:Ubxn4
|
UTSW |
1 |
128,202,587 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4804:Ubxn4
|
UTSW |
1 |
128,194,141 (GRCm39) |
nonsense |
probably null |
|
|
R5735:Ubxn4
|
UTSW |
1 |
128,186,677 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5826:Ubxn4
|
UTSW |
1 |
128,194,058 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5840:Ubxn4
|
UTSW |
1 |
128,187,262 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5883:Ubxn4
|
UTSW |
1 |
128,183,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6637:Ubxn4
|
UTSW |
1 |
128,204,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6827:Ubxn4
|
UTSW |
1 |
128,204,714 (GRCm39) |
missense |
probably benign |
|
|
R7092:Ubxn4
|
UTSW |
1 |
128,179,959 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7449:Ubxn4
|
UTSW |
1 |
128,172,280 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8049:Ubxn4
|
UTSW |
1 |
128,183,933 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-12-06 |
Incidental Mutation