Incidental Mutation 'R6363:Uba7'
| ID |
512592 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uba7
|
| Ensembl Gene |
ENSMUSG00000032596 |
| Gene Name |
ubiquitin-like modifier activating enzyme 7 |
| Synonyms |
Ube1l, 1300004C08Rik |
| MMRRC Submission |
044513-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R6363 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107852766-107861255 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 107857382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035216]
[ENSMUST00000048568]
[ENSMUST00000175914]
[ENSMUST00000177368]
[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 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: ENSMUST00000176340
|
| 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: ENSMUST00000177494
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176673
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176858
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177071
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176382
|
| 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: ENSMUST00000177039
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176743
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177096
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176842
|
| Meta Mutation Damage Score |
0.9583 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.9%
|
| Validation Efficiency |
98% (51/52) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl4 |
A |
G |
4: 111,423,982 (GRCm39) |
|
probably benign |
Het |
| Antxrl |
G |
T |
14: 33,791,244 (GRCm39) |
C379F |
probably damaging |
Het |
| Camsap3 |
T |
C |
8: 3,651,971 (GRCm39) |
C256R |
probably damaging |
Het |
| Ccdc33 |
T |
C |
9: 58,021,618 (GRCm39) |
E254G |
probably benign |
Het |
| Ccndbp1 |
C |
T |
2: 120,843,454 (GRCm39) |
P282L |
probably damaging |
Het |
| Col5a1 |
C |
T |
2: 27,818,207 (GRCm39) |
T144I |
unknown |
Het |
| Csmd2 |
A |
T |
4: 128,294,172 (GRCm39) |
H1167L |
probably benign |
Het |
| Ctsk |
A |
T |
3: 95,408,862 (GRCm39) |
T82S |
probably damaging |
Het |
| Cyp3a41b |
A |
T |
5: 145,507,197 (GRCm39) |
F248I |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,407,679 (GRCm39) |
I2051T |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,001,331 (GRCm39) |
F871L |
probably benign |
Het |
| Eif2b4 |
A |
G |
5: 31,348,583 (GRCm39) |
V210A |
probably damaging |
Het |
| Eral1 |
A |
G |
11: 77,965,143 (GRCm39) |
I385T |
probably damaging |
Het |
| Ercc8 |
T |
C |
13: 108,320,404 (GRCm39) |
L330P |
probably damaging |
Het |
| Etfa |
A |
G |
9: 55,407,417 (GRCm39) |
V24A |
probably damaging |
Het |
| Fcrl1 |
A |
T |
3: 87,292,475 (GRCm39) |
I156F |
probably damaging |
Het |
| Gm7298 |
A |
G |
6: 121,765,565 (GRCm39) |
Y1465C |
probably damaging |
Het |
| Gpr17 |
A |
G |
18: 32,080,625 (GRCm39) |
L146P |
probably damaging |
Het |
| Gpr171 |
A |
G |
3: 59,005,313 (GRCm39) |
I154T |
possibly damaging |
Het |
| Hid1 |
T |
A |
11: 115,243,422 (GRCm39) |
Y542F |
probably damaging |
Het |
| Hspa8 |
T |
C |
9: 40,714,361 (GRCm39) |
V219A |
probably damaging |
Het |
| Klhl24 |
C |
T |
16: 19,938,933 (GRCm39) |
T496I |
possibly damaging |
Het |
| Krtcap2 |
T |
C |
3: 89,156,413 (GRCm39) |
S64P |
probably damaging |
Het |
| Msh3 |
C |
A |
13: 92,349,032 (GRCm39) |
D1066Y |
probably damaging |
Het |
| Naaladl2 |
C |
T |
3: 24,389,481 (GRCm39) |
G323R |
possibly damaging |
Het |
| Nbas |
A |
G |
12: 13,532,577 (GRCm39) |
T1762A |
probably benign |
Het |
| Nr4a1 |
C |
T |
15: 101,171,996 (GRCm39) |
R557C |
probably damaging |
Het |
| Ogfrl1 |
T |
A |
1: 23,409,194 (GRCm39) |
H344L |
probably benign |
Het |
| Or13a25 |
T |
A |
7: 140,247,995 (GRCm39) |
F265Y |
possibly damaging |
Het |
| Or5a1 |
T |
A |
19: 12,097,530 (GRCm39) |
H182L |
possibly damaging |
Het |
| Or5p55 |
A |
G |
7: 107,566,957 (GRCm39) |
M118V |
possibly damaging |
Het |
| Or9k7 |
A |
C |
10: 130,046,906 (GRCm39) |
V31G |
possibly damaging |
Het |
| Orm2 |
G |
A |
4: 63,280,841 (GRCm39) |
|
probably null |
Het |
| Patj |
T |
A |
4: 98,320,097 (GRCm39) |
S455T |
probably benign |
Het |
| Pdgfra |
G |
T |
5: 75,331,497 (GRCm39) |
V336L |
possibly damaging |
Het |
| Prkaa1 |
T |
C |
15: 5,206,437 (GRCm39) |
L431S |
probably damaging |
Het |
| Ptgfrn |
A |
G |
3: 100,952,894 (GRCm39) |
V780A |
possibly damaging |
Het |
| Rb1 |
A |
T |
14: 73,525,081 (GRCm39) |
V184E |
probably benign |
Het |
| Rev1 |
T |
A |
1: 38,110,570 (GRCm39) |
H560L |
probably damaging |
Het |
| Serpinb13 |
A |
T |
1: 106,928,504 (GRCm39) |
R375* |
probably null |
Het |
| Slc8a2 |
C |
A |
7: 15,867,970 (GRCm39) |
D67E |
probably benign |
Het |
| Sos2 |
A |
T |
12: 69,678,885 (GRCm39) |
N307K |
probably benign |
Het |
| Srgap2 |
G |
A |
1: 131,226,206 (GRCm39) |
R36W |
probably damaging |
Het |
| Tas2r119 |
G |
T |
15: 32,178,034 (GRCm39) |
W200L |
possibly damaging |
Het |
| Tep1 |
T |
G |
14: 51,062,005 (GRCm39) |
K2575T |
probably benign |
Het |
| Ttc36 |
T |
A |
9: 44,710,936 (GRCm39) |
R131S |
probably damaging |
Het |
| Ttyh3 |
A |
T |
5: 140,620,979 (GRCm39) |
L195Q |
probably damaging |
Het |
| Utp20 |
A |
C |
10: 88,592,942 (GRCm39) |
V2249G |
probably damaging |
Het |
| Wwc2 |
A |
T |
8: 48,340,197 (GRCm39) |
|
probably null |
Het |
| Zdhhc21 |
A |
T |
4: 82,765,911 (GRCm39) |
V8D |
probably damaging |
Het |
| Zfp719 |
A |
G |
7: 43,239,290 (GRCm39) |
T293A |
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 |
|
|
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 |
|
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'- AATGCATCCCATCCCGTGTAC -3'
(R):5'- ATCAGCAAAGTAAGAGGCCC -3'
Sequencing Primer
(F):5'- TGTACCCACGGTCCTGC -3'
(R):5'- CTCCAGTTTCAGGGGATCGATAAAC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation