Incidental Mutation 'IGL02137:Uba7'
ID |
281384 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Uba7
|
Ensembl Gene |
ENSMUSG00000032596 |
Gene Name |
ubiquitin-like modifier activating enzyme 7 |
Synonyms |
Ube1l, 1300004C08Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
IGL02137
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
107852766-107861255 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 107856952 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134910
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035216]
[ENSMUST00000048568]
[ENSMUST00000175914]
[ENSMUST00000177392]
[ENSMUST00000177368]
|
AlphaFold |
Q9DBK7 |
Predicted Effect |
probably benign
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: 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: ENSMUST00000176037
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176166
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176478
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177039
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176858
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177494
|
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: ENSMUST00000176743
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176842
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176340
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176673
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176382
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177071
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177096
|
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 |
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930595M18Rik |
T |
C |
X: 80,501,262 (GRCm39) |
D116G |
probably benign |
Het |
Acp2 |
G |
T |
2: 91,034,028 (GRCm39) |
G66V |
probably damaging |
Het |
Adam32 |
C |
T |
8: 25,362,610 (GRCm39) |
G605D |
probably damaging |
Het |
Adam4 |
T |
C |
12: 81,467,877 (GRCm39) |
D248G |
possibly damaging |
Het |
Adamts15 |
C |
A |
9: 30,821,956 (GRCm39) |
G494W |
probably damaging |
Het |
Arfgef1 |
A |
T |
1: 10,283,338 (GRCm39) |
N190K |
probably damaging |
Het |
Bach2 |
C |
T |
4: 32,501,621 (GRCm39) |
|
probably benign |
Het |
Bloc1s1 |
T |
C |
10: 128,758,517 (GRCm39) |
|
probably benign |
Het |
Casz1 |
G |
T |
4: 149,017,925 (GRCm39) |
A405S |
possibly damaging |
Het |
Cplx4 |
T |
C |
18: 66,090,125 (GRCm39) |
D98G |
probably benign |
Het |
Dync2h1 |
T |
C |
9: 7,134,349 (GRCm39) |
N1553D |
probably benign |
Het |
Erich5 |
G |
A |
15: 34,470,900 (GRCm39) |
C43Y |
probably damaging |
Het |
Exosc10 |
A |
C |
4: 148,645,590 (GRCm39) |
R123S |
probably damaging |
Het |
Hoatz |
T |
C |
9: 50,997,408 (GRCm39) |
|
probably benign |
Het |
Inpp5f |
T |
C |
7: 128,296,853 (GRCm39) |
V377A |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,620,700 (GRCm39) |
|
probably benign |
Het |
Mrps17 |
G |
A |
5: 129,793,847 (GRCm39) |
V14M |
probably benign |
Het |
Mtrr |
G |
A |
13: 68,716,920 (GRCm39) |
S431F |
possibly damaging |
Het |
Myo5a |
T |
C |
9: 75,068,817 (GRCm39) |
|
probably null |
Het |
Nsfl1c |
T |
A |
2: 151,351,509 (GRCm39) |
I291N |
probably damaging |
Het |
Ntsr1 |
T |
A |
2: 180,180,628 (GRCm39) |
|
probably null |
Het |
Or4n4 |
T |
C |
14: 50,519,135 (GRCm39) |
T192A |
probably benign |
Het |
Park7 |
T |
C |
4: 150,988,288 (GRCm39) |
I102M |
probably benign |
Het |
Pik3c2a |
T |
A |
7: 115,950,039 (GRCm39) |
Q1326L |
probably benign |
Het |
Rapgef3 |
T |
C |
15: 97,648,025 (GRCm39) |
D693G |
probably benign |
Het |
Rep15 |
G |
A |
6: 146,934,845 (GRCm39) |
R228H |
probably benign |
Het |
Slc25a1 |
A |
G |
16: 17,745,234 (GRCm39) |
V100A |
probably benign |
Het |
Slc9a4 |
T |
C |
1: 40,640,059 (GRCm39) |
F284L |
possibly damaging |
Het |
Sox10 |
G |
T |
15: 79,043,393 (GRCm39) |
D52E |
probably benign |
Het |
St3gal5 |
C |
A |
6: 72,105,266 (GRCm39) |
T6N |
probably benign |
Het |
Tbc1d22a |
A |
G |
15: 86,183,870 (GRCm39) |
D243G |
probably benign |
Het |
Tll1 |
T |
C |
8: 64,469,132 (GRCm39) |
Y997C |
possibly damaging |
Het |
Tmem8b |
A |
T |
4: 43,689,434 (GRCm39) |
H276L |
probably benign |
Het |
Tnpo3 |
T |
C |
6: 29,609,450 (GRCm39) |
Y12C |
probably damaging |
Het |
Tns3 |
A |
T |
11: 8,442,578 (GRCm39) |
M595K |
possibly damaging |
Het |
Trav18 |
T |
A |
14: 54,069,192 (GRCm39) |
M78K |
probably benign |
Het |
Vmn1r167 |
A |
T |
7: 23,204,864 (GRCm39) |
S51T |
probably damaging |
Het |
Vmn1r83 |
A |
T |
7: 12,055,761 (GRCm39) |
Y99N |
probably damaging |
Het |
Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
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 |
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 |
|
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 |
|
Posted On |
2015-04-16 |