Incidental Mutation 'P4748:Ubxn4'
ID |
26530 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ubxn4
|
Ensembl Gene |
ENSMUSG00000026353 |
Gene Name |
UBX domain protein 4 |
Synonyms |
Ubxd2, 1300013G12Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.512)
|
Stock # |
P4748 ()
of strain
712
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
1 |
Chromosomal Location |
128171701-128207115 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 128190641 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 256
(E256K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027592
(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: E256K
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000027592 Gene: ENSMUSG00000026353 AA Change: E256K
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 |
probably benign
Transcript: ENSMUST00000190736
|
Meta Mutation Damage Score |
0.2133 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.5%
- 20x: 94.5%
|
Validation Efficiency |
87% (26/30) |
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
4930556J24Rik |
A |
T |
11: 3,888,178 (GRCm39) |
|
probably null |
Het |
Acoxl |
T |
C |
2: 127,928,264 (GRCm39) |
|
probably benign |
Het |
Ahi1 |
G |
C |
10: 20,848,009 (GRCm39) |
R472S |
probably damaging |
Het |
Akap10 |
A |
G |
11: 61,763,846 (GRCm39) |
L662P |
possibly damaging |
Het |
Arhgef10 |
C |
T |
8: 14,978,925 (GRCm39) |
T64M |
possibly damaging |
Het |
Ccr4 |
C |
T |
9: 114,321,906 (GRCm39) |
G53D |
probably damaging |
Het |
Cdc25a |
T |
C |
9: 109,713,176 (GRCm39) |
|
probably benign |
Het |
Clec4n |
A |
C |
6: 123,221,499 (GRCm39) |
Q114H |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,210,983 (GRCm39) |
|
probably benign |
Het |
Depdc1a |
T |
C |
3: 159,228,184 (GRCm39) |
V312A |
probably damaging |
Het |
Ephb6 |
C |
T |
6: 41,594,219 (GRCm39) |
P583L |
probably damaging |
Het |
Klra8 |
A |
T |
6: 130,099,007 (GRCm39) |
D185E |
possibly damaging |
Het |
Meis2 |
T |
A |
2: 115,694,961 (GRCm39) |
Q394L |
probably benign |
Het |
Or2t47 |
G |
A |
11: 58,442,348 (GRCm39) |
T239I |
probably damaging |
Het |
Pzp |
C |
T |
6: 128,467,052 (GRCm39) |
G1107D |
probably damaging |
Het |
Ralgapa2 |
C |
T |
2: 146,188,731 (GRCm39) |
W1350* |
probably null |
Het |
Scand1 |
C |
A |
2: 156,153,865 (GRCm39) |
R135L |
probably damaging |
Het |
Spopl |
A |
T |
2: 23,401,455 (GRCm39) |
M351K |
probably benign |
Het |
Tmed4 |
T |
C |
11: 6,223,727 (GRCm39) |
|
probably benign |
Het |
Ube2e2 |
A |
G |
14: 18,630,297 (GRCm38) |
|
probably null |
Het |
Usp51 |
GATGCAT |
GAT |
X: 151,791,227 (GRCm39) |
|
probably null |
Het |
Wrap53 |
A |
T |
11: 69,453,031 (GRCm39) |
D425E |
probably 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCACTGAGCCATCTCACCAGCAA -3'
(R):5'- TCAGCAGGCACAGCTAAGAGAATCTCAA -3'
Sequencing Primer
(F):5'- cagacacaccagaagaaggag -3'
(R):5'- TCTCAAGCTCAGCAGAGGC -3'
|
Posted On |
2013-04-16 |