Incidental Mutation 'R4528:Uba7'
| ID |
333005 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uba7
|
| Ensembl Gene |
ENSMUSG00000032596 |
| Gene Name |
ubiquitin-like modifier activating enzyme 7 |
| Synonyms |
Ube1l, 1300004C08Rik |
| MMRRC Submission |
041769-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R4528 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
107852766-107861255 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107861102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 964
(E964G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035216]
[ENSMUST00000048568]
[ENSMUST00000175914]
[ENSMUST00000177392]
[ENSMUST00000177368]
|
| AlphaFold |
Q9DBK7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035216
AA Change: E964G
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000035216
Gene: ENSMUSG00000032596
AA Change: E964G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ThiF
|
6 |
401 |
1.2e-33 |
PFAM |
|
Pfam:E1_FCCH
|
178 |
249 |
1.1e-26 |
PFAM |
|
Pfam:E1_4HB
|
250 |
318 |
2.5e-22 |
PFAM |
|
internal_repeat_1
|
402 |
510 |
8.05e-5 |
PROSPERO |
|
Pfam:UBA_e1_thiolCys
|
592 |
808 |
1.3e-50 |
PFAM |
|
UBA_e1_C
|
846 |
973 |
4.63e-65 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048568
|
| SMART Domains |
Protein: ENSMUSP00000040433
Gene: ENSMUSG00000042106
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
73 |
N/A |
INTRINSIC |
|
Pfam:FAM212
|
146 |
201 |
1.7e-30 |
PFAM |
|
low complexity region
|
228 |
237 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000075082
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158330
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175914
|
| SMART Domains |
Protein: ENSMUSP00000134980
Gene: ENSMUSG00000042106
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
75 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176166
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176340
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177071
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177494
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176858
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176478
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177096
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176382
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176673
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177039
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177392
|
| SMART Domains |
Protein: ENSMUSP00000134910
Gene: ENSMUSG00000032596
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ThiF
|
22 |
153 |
1.2e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177368
|
| SMART Domains |
Protein: ENSMUSP00000135553
Gene: ENSMUSG00000079323
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:UBA_e1_C
|
1 |
39 |
1e-10 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme is a retinoid target that triggers promyelocytic leukemia (PML)/retinoic acid receptor alpha (RARalpha) degradation and apoptosis in acute promyelocytic leukemia, where it is involved in the conjugation of the ubiquitin-like interferon-stimulated gene 15 protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice lacking ISG15 conjugation but not free ISG15 are healthy and fertile and exhibit normal antiviral responses against vesicular stomatitis virus and lymphocytic choriomeningitis virus infection. Bone-derived macrophages from mutant mice display normal responses to IFN treatment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atm |
A |
T |
9: 53,412,059 (GRCm39) |
I999K |
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,656,515 (GRCm39) |
E535G |
possibly damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cenpu |
G |
T |
8: 47,015,457 (GRCm39) |
G34* |
probably null |
Het |
| Col7a1 |
C |
A |
9: 108,788,601 (GRCm39) |
A739D |
unknown |
Het |
| Coro1b |
T |
C |
19: 4,199,980 (GRCm39) |
V107A |
probably benign |
Het |
| Cpeb3 |
T |
C |
19: 37,116,488 (GRCm39) |
D381G |
possibly damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,634,194 (GRCm39) |
D320G |
possibly damaging |
Het |
| Dcaf1 |
A |
T |
9: 106,721,403 (GRCm39) |
K398N |
probably damaging |
Het |
| Etfa |
A |
G |
9: 55,407,334 (GRCm39) |
S52P |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 38,945,443 (GRCm39) |
H1445Q |
probably benign |
Het |
| Foxred2 |
T |
A |
15: 77,827,449 (GRCm39) |
M637L |
probably benign |
Het |
| Gbe1 |
A |
T |
16: 70,275,225 (GRCm39) |
I342L |
probably benign |
Het |
| Gm14410 |
A |
T |
2: 176,885,736 (GRCm39) |
I176K |
probably benign |
Het |
| Gm14410 |
G |
T |
2: 176,885,734 (GRCm39) |
H177N |
probably damaging |
Het |
| Gm1527 |
T |
A |
3: 28,968,542 (GRCm39) |
M198K |
probably damaging |
Het |
| Hr |
T |
C |
14: 70,803,823 (GRCm39) |
L838P |
probably damaging |
Het |
| Kmt2e |
T |
C |
5: 23,678,556 (GRCm39) |
S212P |
possibly damaging |
Het |
| Lims1 |
T |
C |
10: 58,245,882 (GRCm39) |
C180R |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,297,088 (GRCm39) |
S2649T |
probably damaging |
Het |
| Or10x1 |
T |
A |
1: 174,196,822 (GRCm39) |
L113H |
probably damaging |
Het |
| Or4f57 |
T |
C |
2: 111,791,293 (GRCm39) |
N42D |
probably damaging |
Het |
| Or51t4 |
A |
G |
7: 102,598,013 (GRCm39) |
M104V |
probably damaging |
Het |
| Pde4dip |
C |
T |
3: 97,624,338 (GRCm39) |
E1399K |
probably damaging |
Het |
| Pex1 |
T |
C |
5: 3,681,712 (GRCm39) |
Y1053H |
probably damaging |
Het |
| Plscr2 |
G |
A |
9: 92,171,746 (GRCm39) |
E113K |
possibly damaging |
Het |
| Pus1 |
T |
C |
5: 110,922,596 (GRCm39) |
Y309C |
probably damaging |
Het |
| Scube3 |
T |
A |
17: 28,381,973 (GRCm39) |
V333D |
possibly damaging |
Het |
| Serpina11 |
A |
T |
12: 103,952,592 (GRCm39) |
N66K |
probably benign |
Het |
| Thtpa |
T |
A |
14: 55,333,039 (GRCm39) |
D41E |
probably damaging |
Het |
| Timm10b |
A |
G |
7: 105,332,013 (GRCm39) |
N828S |
probably benign |
Het |
| Tlr12 |
A |
C |
4: 128,511,818 (GRCm39) |
L144R |
probably damaging |
Het |
| Ugt1a6b |
T |
A |
1: 88,035,301 (GRCm39) |
I213N |
probably damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Zbtb43 |
A |
G |
2: 33,352,337 (GRCm39) |
|
probably benign |
Het |
| Zfp985 |
A |
T |
4: 147,667,347 (GRCm39) |
I72F |
possibly damaging |
Het |
| Zfpm1 |
G |
A |
8: 123,062,381 (GRCm39) |
R480H |
probably benign |
Het |
|
| Other mutations in Uba7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00157:Uba7
|
APN |
9 |
107,856,310 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL01696:Uba7
|
APN |
9 |
107,854,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02137:Uba7
|
APN |
9 |
107,856,952 (GRCm39) |
splice site |
probably benign |
|
|
IGL02272:Uba7
|
APN |
9 |
107,853,352 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02287:Uba7
|
APN |
9 |
107,855,426 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02430:Uba7
|
APN |
9 |
107,856,667 (GRCm39) |
splice site |
probably benign |
|
|
IGL02552:Uba7
|
APN |
9 |
107,858,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02820:Uba7
|
APN |
9 |
107,858,715 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03234:Uba7
|
APN |
9 |
107,853,599 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0013:Uba7
|
UTSW |
9 |
107,855,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0013:Uba7
|
UTSW |
9 |
107,855,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0717:Uba7
|
UTSW |
9 |
107,854,416 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2108:Uba7
|
UTSW |
9 |
107,856,487 (GRCm39) |
missense |
probably benign |
|
|
R2253:Uba7
|
UTSW |
9 |
107,853,563 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4239:Uba7
|
UTSW |
9 |
107,854,001 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4735:Uba7
|
UTSW |
9 |
107,854,115 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4736:Uba7
|
UTSW |
9 |
107,857,364 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4751:Uba7
|
UTSW |
9 |
107,857,004 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4937:Uba7
|
UTSW |
9 |
107,856,190 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4999:Uba7
|
UTSW |
9 |
107,857,038 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5020:Uba7
|
UTSW |
9 |
107,856,113 (GRCm39) |
missense |
probably benign |
|
|
R5157:Uba7
|
UTSW |
9 |
107,857,246 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5214:Uba7
|
UTSW |
9 |
107,854,713 (GRCm39) |
intron |
probably benign |
|
|
R5339:Uba7
|
UTSW |
9 |
107,856,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5990:Uba7
|
UTSW |
9 |
107,858,433 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6092:Uba7
|
UTSW |
9 |
107,860,359 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6110:Uba7
|
UTSW |
9 |
107,856,138 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6363:Uba7
|
UTSW |
9 |
107,857,382 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6495:Uba7
|
UTSW |
9 |
107,854,213 (GRCm39) |
nonsense |
probably null |
|
|
R6644:Uba7
|
UTSW |
9 |
107,858,671 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7032:Uba7
|
UTSW |
9 |
107,853,371 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7095:Uba7
|
UTSW |
9 |
107,860,538 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7517:Uba7
|
UTSW |
9 |
107,853,897 (GRCm39) |
splice site |
probably benign |
|
|
R9083:Uba7
|
UTSW |
9 |
107,855,166 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9227:Uba7
|
UTSW |
9 |
107,853,001 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9484:Uba7
|
UTSW |
9 |
107,861,037 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0024:Uba7
|
UTSW |
9 |
107,853,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCTCTTGTCCACACTAGG -3'
(R):5'- GGCCAGTCTAGAATGTTCCC -3'
Sequencing Primer
(F):5'- GTCCACACTAGGTTGCCC -3'
(R):5'- ACCCGTATCACCTGTGTGTAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation