Incidental Mutation 'R6644:Uba7'
| ID |
526008 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uba7
|
| Ensembl Gene |
ENSMUSG00000032596 |
| Gene Name |
ubiquitin-like modifier activating enzyme 7 |
| Synonyms |
Ube1l, 1300004C08Rik |
| MMRRC Submission |
044765-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R6644 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107852766-107861255 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107858671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 834
(Y834C)
|
| 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: Y834C
PolyPhen 2
Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000035216
Gene: ENSMUSG00000032596
AA Change: Y834C
| 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 |
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: ENSMUST00000175933
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176166
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176340
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000177494
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177096
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176743
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176478
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177071
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176382
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176673
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176858
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.3%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
C |
T |
10: 79,844,598 (GRCm39) |
P1461L |
probably damaging |
Het |
| Abhd14a |
T |
C |
9: 106,321,472 (GRCm39) |
Y10C |
probably damaging |
Het |
| Adcy2 |
C |
T |
13: 68,816,671 (GRCm39) |
V772M |
possibly damaging |
Het |
| Apob |
A |
G |
12: 8,059,077 (GRCm39) |
M2487V |
probably damaging |
Het |
| B4galnt1 |
T |
C |
10: 127,007,662 (GRCm39) |
|
probably null |
Het |
| Cabp7 |
C |
T |
11: 4,690,396 (GRCm39) |
V76I |
probably benign |
Het |
| Cbr3 |
A |
G |
16: 93,487,399 (GRCm39) |
Y194C |
probably damaging |
Het |
| Cdk18 |
G |
A |
1: 132,049,807 (GRCm39) |
Q58* |
probably null |
Het |
| Cryba4 |
T |
C |
5: 112,394,628 (GRCm39) |
D167G |
probably damaging |
Het |
| Czib |
T |
G |
4: 107,752,119 (GRCm39) |
I130S |
probably damaging |
Het |
| Dner |
T |
C |
1: 84,373,428 (GRCm39) |
N588S |
probably damaging |
Het |
| Dnm1l |
T |
C |
16: 16,147,737 (GRCm39) |
I343V |
probably benign |
Het |
| Eif1ad16 |
A |
G |
12: 87,985,460 (GRCm39) |
F28L |
probably benign |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| Fbxw17 |
G |
A |
13: 50,577,255 (GRCm39) |
R49Q |
probably damaging |
Het |
| Garin2 |
T |
A |
12: 78,762,060 (GRCm39) |
D241E |
probably damaging |
Het |
| Gm10332 |
T |
A |
14: 55,057,616 (GRCm39) |
F59I |
probably damaging |
Het |
| Gnai3 |
A |
G |
3: 108,030,852 (GRCm39) |
|
probably null |
Het |
| Helz |
T |
A |
11: 107,523,087 (GRCm39) |
M75K |
possibly damaging |
Het |
| Hnrnph3 |
C |
T |
10: 62,854,672 (GRCm39) |
|
probably benign |
Het |
| Ifi211 |
C |
T |
1: 173,733,118 (GRCm39) |
C181Y |
probably benign |
Het |
| Immp1l |
A |
G |
2: 105,767,390 (GRCm39) |
K83R |
probably damaging |
Het |
| Itga6 |
G |
A |
2: 71,671,468 (GRCm39) |
G740R |
probably damaging |
Het |
| Klhl1 |
T |
C |
14: 96,755,354 (GRCm39) |
T134A |
probably benign |
Het |
| Klhl7 |
A |
G |
5: 24,354,244 (GRCm39) |
D353G |
probably damaging |
Het |
| Map3k1 |
A |
G |
13: 111,888,983 (GRCm39) |
S1325P |
probably benign |
Het |
| Map3k4 |
A |
G |
17: 12,451,297 (GRCm39) |
|
probably null |
Het |
| Meioc |
G |
A |
11: 102,559,286 (GRCm39) |
|
probably null |
Het |
| Mfap5 |
T |
C |
6: 122,497,555 (GRCm39) |
F26L |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,054,249 (GRCm39) |
T386A |
probably damaging |
Het |
| Npc1l1 |
A |
T |
11: 6,164,013 (GRCm39) |
L1266Q |
probably damaging |
Het |
| Npc1l1 |
G |
T |
11: 6,164,014 (GRCm39) |
L1266M |
probably damaging |
Het |
| Or4c116 |
A |
G |
2: 88,942,325 (GRCm39) |
M177T |
probably benign |
Het |
| Or51aa2 |
C |
A |
7: 103,188,265 (GRCm39) |
V59F |
possibly damaging |
Het |
| Pbld1 |
T |
A |
10: 62,910,842 (GRCm39) |
S233T |
probably damaging |
Het |
| Phf12 |
A |
G |
11: 77,916,918 (GRCm39) |
*789W |
probably null |
Het |
| Sf3b2 |
A |
T |
19: 5,329,992 (GRCm39) |
|
probably null |
Het |
| Slc23a3 |
A |
G |
1: 75,105,191 (GRCm39) |
I459T |
probably damaging |
Het |
| Spata31e4 |
A |
G |
13: 50,856,071 (GRCm39) |
T570A |
possibly damaging |
Het |
| Sptbn2 |
C |
G |
19: 4,799,040 (GRCm39) |
R2037G |
probably benign |
Het |
| Stard9 |
A |
C |
2: 120,526,253 (GRCm39) |
M837L |
probably benign |
Het |
| Stx5a |
A |
T |
19: 8,732,612 (GRCm39) |
|
probably benign |
Het |
| Tmc7 |
A |
G |
7: 118,137,385 (GRCm39) |
V719A |
probably benign |
Het |
| Trank1 |
T |
A |
9: 111,193,902 (GRCm39) |
I642K |
possibly damaging |
Het |
| Trim34a |
T |
C |
7: 103,910,244 (GRCm39) |
Y349H |
probably damaging |
Het |
| Ube2d1 |
A |
G |
10: 71,092,530 (GRCm39) |
S105P |
possibly damaging |
Het |
| Vps13a |
A |
G |
19: 16,722,283 (GRCm39) |
V343A |
possibly damaging |
Het |
| Zbtb37 |
G |
A |
1: 160,859,643 (GRCm39) |
Q221* |
probably null |
Het |
| Zfp119b |
T |
C |
17: 56,246,148 (GRCm39) |
N346S |
probably benign |
Het |
| Zfp708 |
G |
T |
13: 67,218,785 (GRCm39) |
T358K |
possibly damaging |
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 |
|
|
R4528:Uba7
|
UTSW |
9 |
107,861,102 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
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 |
|
|
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'- GCGATGTCAGAACTACGGGATC -3'
(R):5'- AGAGAACTGTTTGCTTGGGC -3'
Sequencing Primer
(F):5'- ACCAGTTAATCATGCTCGGG -3'
(R):5'- CTTGGGCAAGTAGAGGGAAAATTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation