Incidental Mutation 'IGL01696:Uba7'
ID |
104268 |
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 # |
IGL01696
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
107852766-107861255 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 107854547 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 262
(L262Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134910
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035216]
[ENSMUST00000177392]
|
AlphaFold |
Q9DBK7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035216
AA Change: L262Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035216 Gene: ENSMUSG00000032596 AA Change: L262Q
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 |
noncoding transcript
Transcript: ENSMUST00000075082
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175933
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176037
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176478
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176673
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176743
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000177392
AA Change: L262Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134910 Gene: ENSMUSG00000032596 AA Change: L262Q
Domain | Start | End | E-Value | Type |
Pfam:ThiF
|
22 |
153 |
1.2e-18 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176842
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177494
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177096
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176858
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177039
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam1b |
A |
G |
5: 121,638,856 (GRCm39) |
S730P |
possibly damaging |
Het |
Ano3 |
T |
G |
2: 110,498,082 (GRCm39) |
D753A |
probably damaging |
Het |
Apoc4 |
C |
T |
7: 19,412,109 (GRCm39) |
C113Y |
probably damaging |
Het |
Arhgdia |
A |
G |
11: 120,471,202 (GRCm39) |
|
probably benign |
Het |
Ccdc171 |
A |
G |
4: 83,573,815 (GRCm39) |
T459A |
possibly damaging |
Het |
Ccdc190 |
A |
C |
1: 169,761,393 (GRCm39) |
K165T |
probably damaging |
Het |
Dop1b |
T |
C |
16: 93,567,128 (GRCm39) |
V1185A |
probably benign |
Het |
Ednrb |
C |
T |
14: 104,060,625 (GRCm39) |
V223I |
probably benign |
Het |
Ermp1 |
T |
C |
19: 29,623,538 (GRCm39) |
I151V |
possibly damaging |
Het |
Gm15737 |
T |
A |
6: 92,856,802 (GRCm39) |
|
probably benign |
Het |
Herc3 |
A |
G |
6: 58,837,371 (GRCm39) |
H348R |
possibly damaging |
Het |
Immp2l |
G |
T |
12: 41,675,590 (GRCm39) |
A95S |
probably damaging |
Het |
Invs |
A |
G |
4: 48,425,997 (GRCm39) |
Y928C |
probably damaging |
Het |
Itprid1 |
A |
G |
6: 55,874,680 (GRCm39) |
H210R |
probably benign |
Het |
Or1l4 |
A |
G |
2: 37,091,523 (GRCm39) |
E90G |
probably benign |
Het |
Or7g17 |
A |
T |
9: 18,768,352 (GRCm39) |
I135L |
probably benign |
Het |
Or8c15 |
A |
C |
9: 38,120,345 (GRCm39) |
|
probably benign |
Het |
Pkd1l2 |
G |
T |
8: 117,783,126 (GRCm39) |
S731R |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,392,747 (GRCm39) |
M1694T |
possibly damaging |
Het |
Pld2 |
C |
A |
11: 70,433,606 (GRCm39) |
R212S |
probably damaging |
Het |
Plekhg6 |
A |
G |
6: 125,355,793 (GRCm39) |
F4L |
probably benign |
Het |
Rps6ka6 |
T |
C |
X: 110,317,214 (GRCm39) |
Q634R |
probably benign |
Het |
Slc1a3 |
T |
C |
15: 8,671,822 (GRCm39) |
E378G |
probably benign |
Het |
Tmem184b |
T |
C |
15: 79,262,729 (GRCm39) |
T43A |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,577,132 (GRCm39) |
V24587A |
probably damaging |
Het |
Zfp954 |
G |
T |
7: 7,118,397 (GRCm39) |
H382Q |
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 |
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 |
|
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 |
2014-01-21 |