Incidental Mutation 'IGL03066:Ubxn4'
| ID |
409707 |
| 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 # |
IGL03066
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
128171701-128207115 bp(+) (GRCm39) |
| Type of Mutation |
splice site (1319 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 128188591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141085
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027592]
[ENSMUST00000190736]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027592
AA Change: E207V
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000027592
Gene: ENSMUSG00000026353
AA Change: E207V
| 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 null
Transcript: ENSMUST00000190736
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brd4 |
A |
C |
17: 32,418,062 (GRCm39) |
|
probably benign |
Het |
| Cd209d |
C |
A |
8: 3,928,437 (GRCm39) |
|
probably null |
Het |
| Cela2a |
T |
A |
4: 141,548,765 (GRCm39) |
I124F |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
| Cnot2 |
A |
T |
10: 116,335,262 (GRCm39) |
N245K |
probably benign |
Het |
| Cpt2 |
A |
G |
4: 107,765,183 (GRCm39) |
F148L |
probably benign |
Het |
| Ctsj |
A |
C |
13: 61,152,302 (GRCm39) |
H21Q |
possibly damaging |
Het |
| Cul4a |
A |
G |
8: 13,183,776 (GRCm39) |
N388S |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,418,553 (GRCm39) |
D147G |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,369,089 (GRCm39) |
T4287A |
probably damaging |
Het |
| Dock10 |
C |
A |
1: 80,562,758 (GRCm39) |
C534F |
probably benign |
Het |
| Efcab14 |
A |
G |
4: 115,596,001 (GRCm39) |
E49G |
probably benign |
Het |
| Fancm |
G |
T |
12: 65,171,888 (GRCm39) |
E86* |
probably null |
Het |
| Galnt17 |
A |
T |
5: 130,929,486 (GRCm39) |
S440R |
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
| Lctl |
T |
G |
9: 64,025,017 (GRCm39) |
M1R |
probably null |
Het |
| Llgl1 |
A |
G |
11: 60,596,860 (GRCm39) |
T154A |
possibly damaging |
Het |
| Mink1 |
G |
T |
11: 70,499,715 (GRCm39) |
V750F |
probably benign |
Het |
| Mroh7 |
A |
G |
4: 106,549,595 (GRCm39) |
V950A |
possibly damaging |
Het |
| Myg1 |
G |
A |
15: 102,242,801 (GRCm39) |
|
probably benign |
Het |
| Or4x11 |
A |
T |
2: 89,867,778 (GRCm39) |
I172F |
probably damaging |
Het |
| Or6b2b |
T |
A |
1: 92,419,305 (GRCm39) |
R57S |
probably damaging |
Het |
| Or7d10 |
A |
G |
9: 19,831,667 (GRCm39) |
H54R |
probably benign |
Het |
| Pask |
A |
T |
1: 93,258,588 (GRCm39) |
S253R |
probably benign |
Het |
| Pkd1 |
C |
A |
17: 24,805,208 (GRCm39) |
H3253Q |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 71,971,523 (GRCm39) |
|
probably benign |
Het |
| Rnf169 |
G |
T |
7: 99,574,760 (GRCm39) |
R612S |
possibly damaging |
Het |
| Sclt1 |
A |
T |
3: 41,672,278 (GRCm39) |
D104E |
probably benign |
Het |
| Shh |
G |
T |
5: 28,666,369 (GRCm39) |
D172E |
probably damaging |
Het |
| Sil1 |
G |
T |
18: 35,402,259 (GRCm39) |
|
probably benign |
Het |
| Slc19a3 |
A |
G |
1: 82,992,557 (GRCm39) |
I388T |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,149,457 (GRCm39) |
Y946C |
probably damaging |
Het |
| Sulf1 |
A |
T |
1: 12,878,168 (GRCm39) |
I219F |
probably damaging |
Het |
| Tcf3 |
T |
C |
10: 80,248,879 (GRCm39) |
D529G |
probably damaging |
Het |
| Txnip |
G |
A |
3: 96,466,934 (GRCm39) |
E203K |
probably damaging |
Het |
| Ubc |
G |
T |
5: 125,465,327 (GRCm39) |
|
probably benign |
Het |
| Usp16 |
T |
C |
16: 87,268,721 (GRCm39) |
V284A |
probably damaging |
Het |
| Vmn2r6 |
T |
A |
3: 64,472,574 (GRCm39) |
N49I |
probably damaging |
Het |
| Ythdf1 |
A |
T |
2: 180,553,339 (GRCm39) |
I292N |
probably damaging |
Het |
| Zfp128 |
A |
G |
7: 12,624,044 (GRCm39) |
I137M |
probably benign |
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation