Incidental Mutation 'R6092:Uba7'
| ID |
485991 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uba7
|
| Ensembl Gene |
ENSMUSG00000032596 |
| Gene Name |
ubiquitin-like modifier activating enzyme 7 |
| Synonyms |
Ube1l, 1300004C08Rik |
| MMRRC Submission |
044249-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R6092 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107852766-107861255 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107860359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 892
(T892A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035216]
[ENSMUST00000048568]
[ENSMUST00000175914]
[ENSMUST00000177368]
[ENSMUST00000177392]
|
| AlphaFold |
Q9DBK7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035216
AA Change: T892A
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000035216
Gene: ENSMUSG00000032596
AA Change: T892A
| 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 |
noncoding transcript
Transcript: ENSMUST00000158330
|
| 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: ENSMUST00000176166
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176340
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176478
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177096
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176673
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176382
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177071
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177494
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176858
|
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
98% (61/62) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
T |
3: 137,774,701 (GRCm39) |
P1297S |
probably benign |
Het |
| 4930486L24Rik |
C |
T |
13: 61,001,461 (GRCm39) |
V89M |
probably benign |
Het |
| Abhd16a |
T |
C |
17: 35,317,786 (GRCm39) |
|
probably null |
Het |
| Abtb1 |
A |
C |
6: 88,815,433 (GRCm39) |
C264G |
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Arid1a |
C |
T |
4: 133,421,163 (GRCm39) |
G881R |
unknown |
Het |
| Asb8 |
A |
G |
15: 98,034,123 (GRCm39) |
V144A |
possibly damaging |
Het |
| Atm |
A |
C |
9: 53,435,714 (GRCm39) |
C199G |
probably damaging |
Het |
| Atxn1 |
C |
A |
13: 45,720,288 (GRCm39) |
V536L |
probably benign |
Het |
| Baz1a |
C |
T |
12: 54,955,868 (GRCm39) |
V1074M |
possibly damaging |
Het |
| BC034090 |
T |
A |
1: 155,100,659 (GRCm39) |
D535V |
probably damaging |
Het |
| Casp8ap2 |
C |
A |
4: 32,639,380 (GRCm39) |
H145N |
probably damaging |
Het |
| Ccdc24 |
T |
A |
4: 117,729,645 (GRCm39) |
K25* |
probably null |
Het |
| Ccdc91 |
A |
G |
6: 147,437,114 (GRCm39) |
N100S |
possibly damaging |
Het |
| Cdh20 |
A |
T |
1: 110,026,036 (GRCm39) |
Y424F |
probably benign |
Het |
| Clasp1 |
T |
C |
1: 118,438,028 (GRCm39) |
S612P |
probably damaging |
Het |
| Cxcl14 |
T |
C |
13: 56,443,646 (GRCm39) |
M55V |
possibly damaging |
Het |
| Dnah11 |
T |
C |
12: 117,892,191 (GRCm39) |
T3661A |
probably benign |
Het |
| Dnah14 |
T |
A |
1: 181,449,398 (GRCm39) |
D574E |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,091,680 (GRCm39) |
V2204M |
possibly damaging |
Het |
| Ercc4 |
A |
T |
16: 12,943,125 (GRCm39) |
H178L |
probably benign |
Het |
| Far2 |
T |
C |
6: 148,076,581 (GRCm39) |
F475L |
probably benign |
Het |
| Ggt7 |
A |
G |
2: 155,359,959 (GRCm39) |
|
probably null |
Het |
| Gm4131 |
T |
A |
14: 62,718,364 (GRCm39) |
T81S |
possibly damaging |
Het |
| Gprc6a |
A |
G |
10: 51,491,173 (GRCm39) |
S788P |
probably damaging |
Het |
| Hmgxb3 |
C |
A |
18: 61,270,672 (GRCm39) |
G884V |
possibly damaging |
Het |
| Homer1 |
T |
A |
13: 93,502,945 (GRCm39) |
|
probably benign |
Het |
| Iars1 |
T |
C |
13: 49,861,897 (GRCm39) |
S483P |
probably damaging |
Het |
| Kansl1l |
C |
G |
1: 66,812,643 (GRCm39) |
E457Q |
probably damaging |
Het |
| Krtap4-9 |
G |
A |
11: 99,676,481 (GRCm39) |
|
probably benign |
Het |
| Lepr |
C |
A |
4: 101,649,220 (GRCm39) |
P874T |
probably damaging |
Het |
| Mad2l2 |
T |
A |
4: 148,228,067 (GRCm39) |
F100L |
probably damaging |
Het |
| Mavs |
A |
T |
2: 131,087,518 (GRCm39) |
R339* |
probably null |
Het |
| Mettl1 |
G |
A |
10: 126,877,843 (GRCm39) |
|
probably benign |
Het |
| Mfsd8 |
A |
G |
3: 40,774,031 (GRCm39) |
V493A |
possibly damaging |
Het |
| Mtmr9 |
C |
T |
14: 63,779,901 (GRCm39) |
V63M |
possibly damaging |
Het |
| Mto1 |
T |
C |
9: 78,368,131 (GRCm39) |
I425T |
possibly damaging |
Het |
| Or2av9 |
A |
T |
11: 58,380,900 (GRCm39) |
M227K |
probably damaging |
Het |
| Or5g29 |
A |
G |
2: 85,420,950 (GRCm39) |
Y22C |
probably benign |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Pclo |
C |
T |
5: 14,727,937 (GRCm39) |
|
probably benign |
Het |
| Phf2 |
T |
C |
13: 48,969,533 (GRCm39) |
D608G |
unknown |
Het |
| Plch2 |
T |
C |
4: 155,068,829 (GRCm39) |
T1266A |
probably benign |
Het |
| Prdm12 |
A |
G |
2: 31,533,889 (GRCm39) |
N169D |
probably damaging |
Het |
| Rimbp3 |
A |
G |
16: 17,030,134 (GRCm39) |
Y1186C |
probably damaging |
Het |
| Serpinb3d |
T |
C |
1: 107,006,989 (GRCm39) |
M240V |
probably damaging |
Het |
| Slc25a38 |
C |
T |
9: 119,945,658 (GRCm39) |
R74C |
probably damaging |
Het |
| Slc25a39 |
A |
T |
11: 102,295,719 (GRCm39) |
Y109* |
probably null |
Het |
| Slc26a8 |
T |
C |
17: 28,867,129 (GRCm39) |
N564S |
probably damaging |
Het |
| Spag4 |
G |
A |
2: 155,907,696 (GRCm39) |
|
probably benign |
Het |
| Stx1b |
A |
G |
7: 127,407,035 (GRCm39) |
M74T |
possibly damaging |
Het |
| Tbc1d1 |
A |
G |
5: 64,507,242 (GRCm39) |
D1153G |
probably benign |
Het |
| Tert |
T |
C |
13: 73,776,700 (GRCm39) |
F484L |
probably benign |
Het |
| Tet1 |
A |
G |
10: 62,649,494 (GRCm39) |
V72A |
probably benign |
Het |
| Tnfrsf13c |
T |
C |
15: 82,107,355 (GRCm39) |
T147A |
probably damaging |
Het |
| Trpa1 |
A |
T |
1: 14,959,710 (GRCm39) |
Y659N |
probably damaging |
Het |
| Trpm2 |
A |
G |
10: 77,761,516 (GRCm39) |
F1045L |
probably benign |
Het |
| Ttc13 |
T |
C |
8: 125,405,772 (GRCm39) |
H529R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,545,614 (GRCm39) |
T32570A |
probably damaging |
Het |
| Uty |
A |
T |
Y: 1,174,836 (GRCm39) |
M195K |
probably benign |
Het |
| Zfp109 |
A |
G |
7: 23,928,978 (GRCm39) |
S152P |
possibly damaging |
Het |
| Zfp532 |
T |
C |
18: 65,777,281 (GRCm39) |
V846A |
probably damaging |
Het |
| Zfp658 |
A |
T |
7: 43,223,951 (GRCm39) |
H742L |
possibly damaging |
Het |
| Zfp831 |
C |
A |
2: 174,547,299 (GRCm39) |
P1494Q |
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 |
|
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 |
|
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'- AGCTCCATTTCCTGTGCTGG -3'
(R):5'- TGACCATCCTGAAGAATAGAGCAG -3'
Sequencing Primer
(F):5'- TTGGCCGCAGCTTCCTG -3'
(R):5'- TCCTGAAGAATAGAGCAGAGCCTG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation