Incidental Mutation 'IGL02272:Uba7'
| ID |
287176 |
| 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: 0.129)
|
| Stock # |
IGL02272
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
107852766-107861255 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107853352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 99
(S99R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035216]
[ENSMUST00000049348]
[ENSMUST00000177392]
|
| AlphaFold |
Q9DBK7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035216
AA Change: S99R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000035216
Gene: ENSMUSG00000032596
AA Change: S99R
| 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 |
noncoding transcript
Transcript: ENSMUST00000176673
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177392
AA Change: S99R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134910
Gene: ENSMUSG00000032596
AA Change: S99R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ThiF
|
22 |
153 |
1.2e-18 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000177039
AA Change: S36R
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194538
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176858
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177096
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177494
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176743
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176842
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
T |
A |
17: 57,757,021 (GRCm39) |
C759* |
probably null |
Het |
| Adgrg6 |
T |
A |
10: 14,344,573 (GRCm39) |
M127L |
probably damaging |
Het |
| Anxa9 |
A |
G |
3: 95,213,205 (GRCm39) |
V47A |
probably benign |
Het |
| Arhgef12 |
T |
A |
9: 42,912,748 (GRCm39) |
D483V |
probably damaging |
Het |
| Arrdc3 |
C |
A |
13: 81,039,769 (GRCm39) |
|
probably benign |
Het |
| Ccdc169 |
A |
G |
3: 55,058,169 (GRCm39) |
E67G |
probably damaging |
Het |
| Ccdc191 |
T |
A |
16: 43,780,385 (GRCm39) |
V731D |
possibly damaging |
Het |
| Cdh3 |
G |
T |
8: 107,274,468 (GRCm39) |
|
probably null |
Het |
| Cntnap1 |
G |
A |
11: 101,069,142 (GRCm39) |
V199M |
probably damaging |
Het |
| Cntnap3 |
A |
T |
13: 64,905,225 (GRCm39) |
V852E |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,249,907 (GRCm39) |
S1024T |
probably damaging |
Het |
| Cyp3a25 |
T |
C |
5: 145,930,075 (GRCm39) |
|
probably benign |
Het |
| Dusp6 |
T |
A |
10: 99,101,881 (GRCm39) |
V289D |
probably damaging |
Het |
| Ecpas |
A |
T |
4: 58,811,731 (GRCm39) |
N1439K |
probably benign |
Het |
| Epha6 |
C |
T |
16: 59,639,300 (GRCm39) |
R858Q |
probably damaging |
Het |
| Flrt2 |
T |
A |
12: 95,746,478 (GRCm39) |
F272Y |
probably damaging |
Het |
| Gbf1 |
T |
A |
19: 46,258,242 (GRCm39) |
W846R |
probably damaging |
Het |
| Gtpbp2 |
T |
A |
17: 46,475,707 (GRCm39) |
V152E |
probably benign |
Het |
| Hmces |
A |
G |
6: 87,894,837 (GRCm39) |
|
probably null |
Het |
| Hsph1 |
A |
G |
5: 149,540,995 (GRCm39) |
S852P |
probably benign |
Het |
| Kat6b |
A |
C |
14: 21,676,846 (GRCm39) |
K394Q |
probably damaging |
Het |
| Kdr |
G |
A |
5: 76,122,500 (GRCm39) |
T475I |
probably benign |
Het |
| Klhl25 |
A |
G |
7: 75,516,368 (GRCm39) |
T425A |
probably benign |
Het |
| Klk1b8 |
T |
A |
7: 43,602,217 (GRCm39) |
C50S |
probably damaging |
Het |
| Kri1 |
T |
C |
9: 21,187,464 (GRCm39) |
Y343C |
probably damaging |
Het |
| Lamb1 |
T |
C |
12: 31,355,768 (GRCm39) |
S953P |
probably benign |
Het |
| Lpin1 |
A |
G |
12: 16,597,601 (GRCm39) |
V681A |
probably damaging |
Het |
| Lpin3 |
A |
G |
2: 160,743,581 (GRCm39) |
T508A |
probably benign |
Het |
| Moxd1 |
T |
A |
10: 24,158,598 (GRCm39) |
Y417* |
probably null |
Het |
| Mthfd1l |
T |
G |
10: 3,991,812 (GRCm39) |
I588S |
probably damaging |
Het |
| Myo5c |
C |
A |
9: 75,173,442 (GRCm39) |
N543K |
possibly damaging |
Het |
| Myo9a |
T |
A |
9: 59,791,883 (GRCm39) |
|
probably benign |
Het |
| Nme8 |
T |
C |
13: 19,842,996 (GRCm39) |
Y393C |
probably damaging |
Het |
| Nr2e1 |
T |
G |
10: 42,443,975 (GRCm39) |
N249T |
probably damaging |
Het |
| Pex11g |
A |
G |
8: 3,515,898 (GRCm39) |
V45A |
probably benign |
Het |
| Pkhd1 |
C |
A |
1: 20,279,484 (GRCm39) |
G2945W |
probably damaging |
Het |
| Plxnd1 |
A |
G |
6: 115,970,589 (GRCm39) |
F393S |
probably damaging |
Het |
| Ppp3cc |
A |
G |
14: 70,473,938 (GRCm39) |
V353A |
probably damaging |
Het |
| Prss16 |
T |
A |
13: 22,187,205 (GRCm39) |
Q455L |
probably damaging |
Het |
| Ptpn6 |
A |
T |
6: 124,698,171 (GRCm39) |
V524E |
probably damaging |
Het |
| Rap1gap |
A |
G |
4: 137,443,877 (GRCm39) |
Y163C |
probably damaging |
Het |
| Rnf31 |
C |
T |
14: 55,836,239 (GRCm39) |
L598F |
probably damaging |
Het |
| Sardh |
T |
G |
2: 27,115,003 (GRCm39) |
D550A |
probably benign |
Het |
| Serpinc1 |
T |
G |
1: 160,827,562 (GRCm39) |
I387S |
probably damaging |
Het |
| Sh3d19 |
A |
T |
3: 86,028,474 (GRCm39) |
D650V |
probably benign |
Het |
| Sipa1l2 |
T |
A |
8: 126,218,750 (GRCm39) |
T196S |
probably damaging |
Het |
| Slc25a46 |
T |
C |
18: 31,716,621 (GRCm39) |
T294A |
probably benign |
Het |
| Srrm2 |
T |
C |
17: 24,034,756 (GRCm39) |
|
probably benign |
Het |
| Steap2 |
T |
A |
5: 5,727,612 (GRCm39) |
N241I |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,573,594 (GRCm39) |
Y206C |
probably damaging |
Het |
| Tmem259 |
T |
A |
10: 79,814,297 (GRCm39) |
Q322L |
probably damaging |
Het |
| Tnni2 |
C |
A |
7: 141,997,166 (GRCm39) |
Q52K |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,565,372 (GRCm39) |
V28285A |
possibly damaging |
Het |
| Ubxn2b |
A |
T |
4: 6,216,071 (GRCm39) |
K331N |
probably damaging |
Het |
| Usp50 |
G |
A |
2: 126,611,864 (GRCm39) |
T232I |
probably damaging |
Het |
| Vmn2r116 |
G |
A |
17: 23,604,973 (GRCm39) |
M95I |
probably benign |
Het |
| Vmn2r116 |
T |
A |
17: 23,604,978 (GRCm39) |
L97Q |
probably damaging |
Het |
| Vmn2r24 |
A |
T |
6: 123,763,843 (GRCm39) |
N240I |
possibly damaging |
Het |
| Vmn2r72 |
T |
C |
7: 85,399,901 (GRCm39) |
R383G |
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 |
|
|
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 |
Incidental Mutation