Incidental Mutation 'R0467:Ubxn4'
| ID |
41675 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubxn4
|
| Ensembl Gene |
ENSMUSG00000026353 |
| Gene Name |
UBX domain protein 4 |
| Synonyms |
Ubxd2, 1300013G12Rik |
| MMRRC Submission |
038667-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.512)
|
| Stock # |
R0467 (G1)
|
| Quality Score |
188 |
|
Status
|
Validated
|
| 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: 99.6%
- 3x: 98.8%
- 10x: 96.7%
- 20x: 93.3%
|
| Validation Efficiency |
98% (52/53) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,532,151 (GRCm39) |
|
probably benign |
Het |
| Anapc1 |
A |
G |
2: 128,510,963 (GRCm39) |
I511T |
probably damaging |
Het |
| Atf6 |
A |
T |
1: 170,621,589 (GRCm39) |
H477Q |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,955,101 (GRCm39) |
V795A |
probably benign |
Het |
| Cdh26 |
C |
T |
2: 178,123,425 (GRCm39) |
R675C |
possibly damaging |
Het |
| Cdk12 |
T |
C |
11: 98,094,405 (GRCm39) |
V71A |
probably damaging |
Het |
| Cul3 |
A |
T |
1: 80,258,580 (GRCm39) |
D419E |
probably benign |
Het |
| Ddi2 |
A |
G |
4: 141,412,495 (GRCm39) |
I139T |
probably benign |
Het |
| Dnaaf1 |
T |
A |
8: 120,317,471 (GRCm39) |
D333E |
probably benign |
Het |
| Dnase1 |
A |
G |
16: 3,857,013 (GRCm39) |
D7G |
probably damaging |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Galc |
A |
C |
12: 98,208,904 (GRCm39) |
I250R |
probably damaging |
Het |
| Garin1b |
G |
A |
6: 29,326,606 (GRCm39) |
S241N |
probably damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,900,863 (GRCm39) |
V59A |
possibly damaging |
Het |
| Gm6133 |
A |
C |
18: 78,393,305 (GRCm39) |
S100R |
probably benign |
Het |
| Iba57 |
T |
C |
11: 59,054,265 (GRCm39) |
T85A |
probably benign |
Het |
| Ipo4 |
A |
T |
14: 55,872,983 (GRCm39) |
M1K |
probably null |
Het |
| Ippk |
A |
G |
13: 49,584,341 (GRCm39) |
|
probably null |
Het |
| Kcnk10 |
A |
T |
12: 98,456,204 (GRCm39) |
I209N |
probably benign |
Het |
| Klk14 |
T |
C |
7: 43,343,534 (GRCm39) |
L122P |
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,589,424 (GRCm39) |
|
probably null |
Het |
| Mab21l4 |
A |
T |
1: 93,080,766 (GRCm39) |
I380N |
probably damaging |
Het |
| Mcm3 |
T |
C |
1: 20,875,071 (GRCm39) |
D737G |
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Nalcn |
T |
A |
14: 123,528,459 (GRCm39) |
T1456S |
probably benign |
Het |
| Nckap1l |
C |
T |
15: 103,405,854 (GRCm39) |
P1097S |
probably benign |
Het |
| Ncoa1 |
A |
G |
12: 4,317,687 (GRCm39) |
M1215T |
possibly damaging |
Het |
| Nomo1 |
T |
A |
7: 45,721,911 (GRCm39) |
|
probably null |
Het |
| Obox5 |
T |
A |
7: 15,491,932 (GRCm39) |
C116S |
possibly damaging |
Het |
| Or2ag2b |
T |
A |
7: 106,417,568 (GRCm39) |
S93T |
possibly damaging |
Het |
| Or51a43 |
C |
T |
7: 103,717,332 (GRCm39) |
R302H |
probably benign |
Het |
| Or5a1 |
C |
A |
19: 12,097,900 (GRCm39) |
A59S |
probably benign |
Het |
| Pcdhb14 |
G |
T |
18: 37,582,277 (GRCm39) |
R461L |
probably damaging |
Het |
| Pdgfra |
A |
G |
5: 75,355,697 (GRCm39) |
D1069G |
probably damaging |
Het |
| Pgr |
C |
T |
9: 8,900,779 (GRCm39) |
A104V |
possibly damaging |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Potegl |
A |
G |
2: 23,102,832 (GRCm39) |
E190G |
possibly damaging |
Het |
| Rassf3 |
A |
G |
10: 121,253,109 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
G |
T |
15: 36,099,941 (GRCm39) |
S258* |
probably null |
Het |
| Rsph6a |
C |
A |
7: 18,791,594 (GRCm39) |
D254E |
possibly damaging |
Het |
| Sgk1 |
A |
G |
10: 21,872,257 (GRCm39) |
|
probably benign |
Het |
| Shcbp1l |
G |
A |
1: 153,308,928 (GRCm39) |
C174Y |
probably damaging |
Het |
| Spata31g1 |
T |
C |
4: 42,972,715 (GRCm39) |
S683P |
probably benign |
Het |
| Sulf1 |
T |
A |
1: 12,867,144 (GRCm39) |
N109K |
probably damaging |
Het |
| Taf7l2 |
G |
A |
10: 115,949,058 (GRCm39) |
A156V |
probably benign |
Het |
| Tas2r115 |
T |
A |
6: 132,714,682 (GRCm39) |
I90L |
probably benign |
Het |
| Tmem200a |
T |
C |
10: 25,870,002 (GRCm39) |
H89R |
probably benign |
Het |
| Xrn1 |
T |
C |
9: 95,906,244 (GRCm39) |
S1212P |
probably damaging |
Het |
| Zfp408 |
T |
C |
2: 91,475,882 (GRCm39) |
Y424C |
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 |
|
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 |
2013-05-23 |
Incidental Mutation