Incidental Mutation 'R4239:Uba7'
ID |
321271 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uba7
|
Ensembl Gene |
ENSMUSG00000032596 |
Gene Name |
ubiquitin-like modifier activating enzyme 7 |
Synonyms |
Ube1l, 1300004C08Rik |
MMRRC Submission |
041056-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R4239 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
107852766-107861255 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 107854001 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035216
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035216]
[ENSMUST00000035216]
[ENSMUST00000035216]
[ENSMUST00000035216]
[ENSMUST00000049348]
[ENSMUST00000177392]
[ENSMUST00000177392]
[ENSMUST00000177392]
[ENSMUST00000177392]
|
AlphaFold |
Q9DBK7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000035216
|
SMART Domains |
Protein: ENSMUSP00000035216 Gene: ENSMUSG00000032596
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 null
Transcript: ENSMUST00000035216
|
SMART Domains |
Protein: ENSMUSP00000035216 Gene: ENSMUSG00000032596
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 null
Transcript: ENSMUST00000035216
|
SMART Domains |
Protein: ENSMUSP00000035216 Gene: ENSMUSG00000032596
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 null
Transcript: ENSMUST00000035216
|
SMART Domains |
Protein: ENSMUSP00000035216 Gene: ENSMUSG00000032596
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: ENSMUST00000049348
|
SMART Domains |
Protein: ENSMUSP00000040001 Gene: ENSMUSG00000032586
Domain | Start | End | E-Value | Type |
RING
|
7 |
49 |
6.68e-6 |
SMART |
coiled coil region
|
70 |
278 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000075082
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175933
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176037
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176478
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177039
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177039
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177039
|
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: 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: 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: 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: ENSMUST00000176858
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176743
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176673
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176842
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177096
|
Meta Mutation Damage Score |
0.9502 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
95% (55/58) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
T |
C |
9: 55,888,126 (GRCm39) |
D397G |
probably benign |
Het |
Alpk2 |
T |
A |
18: 65,433,212 (GRCm39) |
I1765F |
probably damaging |
Het |
Ano5 |
T |
A |
7: 51,237,414 (GRCm39) |
I696N |
probably damaging |
Het |
Areg |
A |
T |
5: 91,291,375 (GRCm39) |
N106I |
probably damaging |
Het |
Atad2b |
A |
G |
12: 5,035,710 (GRCm39) |
N759D |
probably benign |
Het |
B4galnt4 |
T |
C |
7: 140,641,239 (GRCm39) |
L18P |
probably damaging |
Het |
Boc |
T |
C |
16: 44,312,247 (GRCm39) |
D605G |
probably damaging |
Het |
Cfap46 |
G |
T |
7: 139,246,203 (GRCm39) |
Q387K |
possibly damaging |
Het |
Cfap74 |
C |
A |
4: 155,547,529 (GRCm39) |
H1238Q |
probably benign |
Het |
Clip2 |
A |
G |
5: 134,564,051 (GRCm39) |
|
probably benign |
Het |
Cog4 |
T |
C |
8: 111,585,244 (GRCm39) |
I303T |
probably damaging |
Het |
Col18a1 |
C |
T |
10: 76,932,001 (GRCm39) |
V363I |
unknown |
Het |
Crip3 |
A |
T |
17: 46,742,156 (GRCm39) |
K184* |
probably null |
Het |
Ddi1 |
A |
G |
9: 6,265,799 (GRCm39) |
M190T |
probably benign |
Het |
Dnah3 |
G |
A |
7: 119,628,248 (GRCm39) |
Q1459* |
probably null |
Het |
Dpp8 |
A |
G |
9: 64,962,205 (GRCm39) |
D415G |
probably benign |
Het |
Ehhadh |
T |
G |
16: 21,581,438 (GRCm39) |
D518A |
probably damaging |
Het |
Erbb2 |
A |
G |
11: 98,318,869 (GRCm39) |
K549R |
probably benign |
Het |
Fbxl3 |
G |
A |
14: 103,326,854 (GRCm39) |
S176L |
probably damaging |
Het |
Gm1979 |
T |
C |
5: 26,206,119 (GRCm39) |
T154A |
probably benign |
Het |
Gm6871 |
G |
T |
7: 41,195,204 (GRCm39) |
T511K |
probably damaging |
Het |
Gtf2h1 |
C |
T |
7: 46,454,489 (GRCm39) |
A157V |
probably benign |
Het |
Hexb |
T |
C |
13: 97,313,259 (GRCm39) |
|
probably benign |
Het |
Ifi214 |
A |
T |
1: 173,352,509 (GRCm39) |
S307T |
possibly damaging |
Het |
Ighv3-4 |
A |
T |
12: 114,217,533 (GRCm39) |
D19E |
probably benign |
Het |
Klk6 |
A |
G |
7: 43,478,597 (GRCm39) |
H168R |
probably benign |
Het |
Large2 |
A |
G |
2: 92,196,950 (GRCm39) |
|
probably benign |
Het |
Myo5c |
T |
C |
9: 75,191,224 (GRCm39) |
I1086T |
probably benign |
Het |
Nes |
C |
A |
3: 87,886,666 (GRCm39) |
P1598T |
probably damaging |
Het |
Or13a25 |
A |
G |
7: 140,247,496 (GRCm39) |
N99D |
probably benign |
Het |
Or51f1d |
T |
C |
7: 102,701,003 (GRCm39) |
V166A |
probably benign |
Het |
Or5g25 |
T |
A |
2: 85,478,647 (GRCm39) |
Q6L |
probably damaging |
Het |
Otud7a |
A |
G |
7: 63,300,702 (GRCm39) |
D47G |
probably damaging |
Het |
Phactr1 |
T |
A |
13: 43,248,363 (GRCm39) |
N437K |
possibly damaging |
Het |
Plcb1 |
A |
T |
2: 135,186,078 (GRCm39) |
I682F |
probably damaging |
Het |
Plcz1 |
T |
A |
6: 139,986,344 (GRCm39) |
|
probably null |
Het |
Prl7a1 |
T |
A |
13: 27,821,549 (GRCm39) |
Q129L |
possibly damaging |
Het |
Prrt4 |
T |
C |
6: 29,170,163 (GRCm39) |
Y763C |
probably damaging |
Het |
Psma7 |
T |
C |
2: 179,681,304 (GRCm39) |
|
probably benign |
Het |
Serpinb6b |
G |
C |
13: 33,156,246 (GRCm39) |
C112S |
probably damaging |
Het |
Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
Slc35f5 |
G |
A |
1: 125,500,211 (GRCm39) |
A242T |
possibly damaging |
Het |
Speer4b |
T |
C |
5: 27,706,311 (GRCm39) |
R19G |
probably benign |
Het |
Trank1 |
A |
G |
9: 111,196,103 (GRCm39) |
I1376V |
probably benign |
Het |
Trbv12-2 |
A |
G |
6: 41,095,831 (GRCm39) |
N12D |
probably benign |
Het |
Upf3a |
A |
G |
8: 13,846,591 (GRCm39) |
R324G |
probably benign |
Het |
Usp46 |
T |
G |
5: 74,192,928 (GRCm39) |
|
probably benign |
Het |
Vmn2r14 |
T |
G |
5: 109,364,277 (GRCm39) |
|
probably null |
Het |
Wbp2 |
G |
A |
11: 115,971,373 (GRCm39) |
|
probably benign |
Het |
Wdpcp |
T |
A |
11: 21,645,269 (GRCm39) |
N232K |
probably damaging |
Het |
Wdpcp |
T |
A |
11: 21,645,271 (GRCm39) |
M233K |
probably benign |
Het |
Zfp157 |
A |
G |
5: 138,445,803 (GRCm39) |
I53V |
probably 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 |
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 |
|
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'- ACCTGCTTTAGTGCACCCTG -3'
(R):5'- TGTCTGAGAAAATCACCAAGTCCC -3'
Sequencing Primer
(F):5'- AAGTCTCCACAGCTTTCCTATAATTC -3'
(R):5'- TCCCCATCGTGGAAGGAATGTC -3'
|
Posted On |
2015-06-12 |