Incidental Mutation 'R5826:Ubxn4'
ID |
450156 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ubxn4
|
Ensembl Gene |
ENSMUSG00000026353 |
Gene Name |
UBX domain protein 4 |
Synonyms |
Ubxd2, 1300013G12Rik |
MMRRC Submission |
043217-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.420)
|
Stock # |
R5826 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
128171701-128207115 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 128194058 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Threonine
at position 284
(K284T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027592
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027592]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027592
AA Change: K284T
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000027592 Gene: ENSMUSG00000026353 AA Change: K284T
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.7%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,632,056 (GRCm39) |
H4992R |
probably damaging |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Akr1c20 |
T |
C |
13: 4,560,222 (GRCm39) |
E152G |
probably damaging |
Het |
Ano4 |
T |
A |
10: 88,788,189 (GRCm39) |
D877V |
probably damaging |
Het |
Asb18 |
A |
C |
1: 89,942,260 (GRCm39) |
S14A |
probably damaging |
Het |
Atrnl1 |
T |
A |
19: 57,618,724 (GRCm39) |
Y147* |
probably null |
Het |
Cbfa2t2 |
A |
G |
2: 154,342,375 (GRCm39) |
I30M |
possibly damaging |
Het |
Cpd |
A |
T |
11: 76,675,242 (GRCm39) |
L1293* |
probably null |
Het |
Csmd2 |
T |
C |
4: 128,412,992 (GRCm39) |
|
probably null |
Het |
Cst9 |
G |
A |
2: 148,680,393 (GRCm39) |
V120I |
possibly damaging |
Het |
Ddah2 |
A |
G |
17: 35,279,664 (GRCm39) |
D128G |
probably damaging |
Het |
Defb11 |
T |
C |
8: 22,395,510 (GRCm39) |
I56V |
probably benign |
Het |
Dnah17 |
A |
T |
11: 117,925,193 (GRCm39) |
L3880Q |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dop1a |
A |
G |
9: 86,389,623 (GRCm39) |
T508A |
possibly damaging |
Het |
Ephb2 |
T |
A |
4: 136,388,048 (GRCm39) |
H685L |
probably damaging |
Het |
Glrb |
T |
C |
3: 80,752,449 (GRCm39) |
Y387C |
probably damaging |
Het |
Gucy2e |
A |
G |
11: 69,126,859 (GRCm39) |
S205P |
possibly damaging |
Het |
Has2 |
T |
A |
15: 56,531,498 (GRCm39) |
I406F |
probably damaging |
Het |
Hcrtr2 |
A |
C |
9: 76,230,569 (GRCm39) |
V73G |
probably benign |
Het |
Hsd17b4 |
A |
T |
18: 50,316,239 (GRCm39) |
Q622L |
probably benign |
Het |
Nlrp1b |
A |
T |
11: 71,072,022 (GRCm39) |
M607K |
probably benign |
Het |
Nol6 |
T |
A |
4: 41,122,158 (GRCm39) |
D184V |
probably benign |
Het |
Noxa1 |
T |
A |
2: 24,976,253 (GRCm39) |
Q345L |
probably damaging |
Het |
Nudt6 |
T |
C |
3: 37,473,617 (GRCm39) |
T35A |
probably benign |
Het |
Phf8-ps |
C |
A |
17: 33,284,288 (GRCm39) |
R838I |
possibly damaging |
Het |
Plcg2 |
T |
C |
8: 118,337,583 (GRCm39) |
V985A |
probably benign |
Het |
Plxnc1 |
C |
T |
10: 94,635,335 (GRCm39) |
|
probably null |
Het |
Prkdc |
G |
A |
16: 15,551,962 (GRCm39) |
R2056H |
probably benign |
Het |
Ptpn4 |
A |
T |
1: 119,612,246 (GRCm39) |
I49N |
probably benign |
Het |
Ralgapa1 |
T |
G |
12: 55,723,898 (GRCm39) |
S1543R |
probably damaging |
Het |
Rnf135 |
A |
T |
11: 80,089,912 (GRCm39) |
N416I |
probably damaging |
Het |
Scn5a |
A |
G |
9: 119,350,399 (GRCm39) |
L825P |
probably damaging |
Het |
Septin11 |
A |
T |
5: 93,287,309 (GRCm39) |
N8I |
possibly damaging |
Het |
Slc13a3 |
T |
C |
2: 165,250,876 (GRCm39) |
I456V |
probably benign |
Het |
Slc16a3 |
A |
G |
11: 120,847,756 (GRCm39) |
T315A |
probably benign |
Het |
Sun1 |
T |
G |
5: 139,231,171 (GRCm39) |
F657C |
probably damaging |
Het |
Tmco3 |
T |
C |
8: 13,360,314 (GRCm39) |
S34P |
probably damaging |
Het |
Tnrc18 |
G |
A |
5: 142,759,502 (GRCm39) |
P778L |
unknown |
Het |
Usp37 |
A |
T |
1: 74,509,785 (GRCm39) |
N461K |
probably damaging |
Het |
Vmn2r106 |
A |
T |
17: 20,499,133 (GRCm39) |
F259L |
probably benign |
Het |
Vmn2r73 |
T |
C |
7: 85,524,956 (GRCm39) |
D64G |
possibly damaging |
Het |
|
Other mutations in Ubxn4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00545:Ubxn4
|
APN |
1 |
128,187,202 (GRCm39) |
missense |
possibly damaging |
0.90 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTAACTCAGATTCTTCACAGTTGC -3'
(R):5'- AAAGATTCCTCAAGATAAGCCATG -3'
Sequencing Primer
(F):5'- AGTTCTAGGACAGCCAGGTCTAC -3'
(R):5'- CAAGTCTATAGACCCAGCTGTTTGG -3'
|
Posted On |
2016-12-20 |