Incidental Mutation 'IGL01588:Ubxn8'
| ID |
91515 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ubxn8
|
| Ensembl Gene |
ENSMUSG00000052906 |
| Gene Name |
UBX domain protein 8 |
| Synonyms |
D0H8S2298E, Rep-8, Rep8h, Ubxd6 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
IGL01588
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
34109614-34131995 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 34111587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 269
(V269M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009774]
[ENSMUST00000095349]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009774
|
| SMART Domains |
Protein: ENSMUSP00000009774
Gene: ENSMUSG00000009630
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Ac
|
23 |
293 |
2.48e-156 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095349
AA Change: V269M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092992
Gene: ENSMUSG00000052906
AA Change: V269M
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
22 |
N/A |
INTRINSIC |
|
transmembrane domain
|
34 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
81 |
N/A |
INTRINSIC |
|
Pfam:UBX
|
192 |
271 |
3.8e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210807
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] p97 or VCP (valosin-containing protein) is a versatile ATPase complex, and many cofactors are required for the p97 functional diversity. This gene encodes one of the p97 cofactors. This cofactor is a transmembrane protein and localized in the endoplasmic reticulum (ER) membrane. It tethers p97 to the ER membrane via its UBX domain. The association of this cofactor with p97 facilitates efficient ER-associated degradation of misfolded proteins. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aspm |
T |
A |
1: 139,405,900 (GRCm39) |
S1596T |
probably benign |
Het |
| Atp10b |
G |
A |
11: 43,063,548 (GRCm39) |
R161H |
probably benign |
Het |
| Csn2 |
T |
C |
5: 87,842,508 (GRCm39) |
H165R |
probably benign |
Het |
| Dido1 |
A |
G |
2: 180,330,668 (GRCm39) |
V260A |
probably benign |
Het |
| Ece1 |
C |
T |
4: 137,684,517 (GRCm39) |
|
probably benign |
Het |
| Garem1 |
T |
G |
18: 21,262,854 (GRCm39) |
R653S |
probably damaging |
Het |
| Gpatch2 |
A |
T |
1: 186,962,991 (GRCm39) |
S261C |
probably damaging |
Het |
| Ing4 |
A |
G |
6: 125,020,949 (GRCm39) |
N24D |
possibly damaging |
Het |
| Klhdc7a |
A |
T |
4: 139,694,257 (GRCm39) |
V230D |
probably damaging |
Het |
| Ly96 |
G |
A |
1: 16,779,678 (GRCm39) |
V116I |
probably benign |
Het |
| Myom1 |
C |
T |
17: 71,424,432 (GRCm39) |
T1427M |
possibly damaging |
Het |
| Nedd1 |
C |
A |
10: 92,522,124 (GRCm39) |
V638L |
probably benign |
Het |
| Or52d3 |
C |
T |
7: 104,229,150 (GRCm39) |
S99F |
probably damaging |
Het |
| Or5d35 |
T |
C |
2: 87,855,417 (GRCm39) |
V117A |
probably benign |
Het |
| Or8g30 |
G |
A |
9: 39,230,128 (GRCm39) |
Q261* |
probably null |
Het |
| Pbx2 |
T |
C |
17: 34,814,592 (GRCm39) |
|
probably benign |
Het |
| Phlpp1 |
A |
T |
1: 106,308,119 (GRCm39) |
H1132L |
probably damaging |
Het |
| Plpp5 |
T |
A |
8: 26,214,195 (GRCm39) |
H237Q |
probably damaging |
Het |
| Stard13 |
C |
T |
5: 150,968,702 (GRCm39) |
R856H |
probably damaging |
Het |
| Sult1e1 |
T |
C |
5: 87,724,102 (GRCm39) |
K285R |
probably benign |
Het |
| Usp29 |
A |
T |
7: 6,965,610 (GRCm39) |
K484N |
probably benign |
Het |
| Whrn |
C |
T |
4: 63,391,015 (GRCm39) |
V80M |
probably damaging |
Het |
| Znhit6 |
A |
G |
3: 145,301,962 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ubxn8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00476:Ubxn8
|
APN |
8 |
34,125,333 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01769:Ubxn8
|
APN |
8 |
34,119,406 (GRCm39) |
splice site |
probably benign |
|
|
IGL02074:Ubxn8
|
APN |
8 |
34,113,206 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
PIT4468001:Ubxn8
|
UTSW |
8 |
34,111,569 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0098:Ubxn8
|
UTSW |
8 |
34,125,393 (GRCm39) |
splice site |
probably benign |
|
|
R0098:Ubxn8
|
UTSW |
8 |
34,125,393 (GRCm39) |
splice site |
probably benign |
|
|
R1167:Ubxn8
|
UTSW |
8 |
34,131,929 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5203:Ubxn8
|
UTSW |
8 |
34,123,639 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5299:Ubxn8
|
UTSW |
8 |
34,131,947 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6694:Ubxn8
|
UTSW |
8 |
34,111,572 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7266:Ubxn8
|
UTSW |
8 |
34,113,231 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7526:Ubxn8
|
UTSW |
8 |
34,123,635 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7938:Ubxn8
|
UTSW |
8 |
34,111,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8018:Ubxn8
|
UTSW |
8 |
34,113,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation