Incidental Mutation 'R5157:Uba7'
ID |
396783 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uba7
|
Ensembl Gene |
ENSMUSG00000032596 |
Gene Name |
ubiquitin-like modifier activating enzyme 7 |
Synonyms |
Ube1l, 1300004C08Rik |
MMRRC Submission |
042739-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R5157 (G1)
|
Quality Score |
190 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
107852766-107861255 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 107857246 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 703
(V703I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035216
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035216]
[ENSMUST00000048568]
[ENSMUST00000175914]
[ENSMUST00000177368]
[ENSMUST00000177392]
|
AlphaFold |
Q9DBK7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035216
AA Change: V703I
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000035216 Gene: ENSMUSG00000032596 AA Change: V703I
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: ENSMUST00000176858
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176478
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177071
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176340
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176166
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176743
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176673
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176382
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176842
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177096
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177039
|
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 |
probably benign
Transcript: ENSMUST00000177392
|
SMART Domains |
Protein: ENSMUSP00000134910 Gene: ENSMUSG00000032596
Domain | Start | End | E-Value | Type |
Pfam:ThiF
|
22 |
153 |
1.2e-18 |
PFAM |
|
Meta Mutation Damage Score |
0.1975 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
100% (57/57) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
C |
T |
17: 24,627,096 (GRCm39) |
R1266C |
probably damaging |
Het |
Adap2 |
T |
C |
11: 80,047,772 (GRCm39) |
F76S |
probably damaging |
Het |
Adgb |
T |
A |
10: 10,274,710 (GRCm39) |
H747L |
probably damaging |
Het |
Aox1 |
T |
A |
1: 58,109,222 (GRCm39) |
V670D |
probably damaging |
Het |
Ap4e1 |
A |
G |
2: 126,903,615 (GRCm39) |
D839G |
probably benign |
Het |
Arhgef11 |
T |
A |
3: 87,635,817 (GRCm39) |
|
probably null |
Het |
AY074887 |
T |
C |
9: 54,858,102 (GRCm39) |
|
probably benign |
Het |
Bicd1 |
C |
G |
6: 149,421,912 (GRCm39) |
Q878E |
probably benign |
Het |
Catspere1 |
A |
T |
1: 177,707,348 (GRCm39) |
|
noncoding transcript |
Het |
Cnmd |
T |
C |
14: 79,894,126 (GRCm39) |
Q87R |
probably benign |
Het |
Col24a1 |
G |
T |
3: 145,051,712 (GRCm39) |
G661* |
probably null |
Het |
Crtap |
G |
A |
9: 114,213,860 (GRCm39) |
L232F |
probably damaging |
Het |
Ctsq |
T |
C |
13: 61,184,913 (GRCm39) |
T258A |
probably benign |
Het |
Cyp2d26 |
T |
C |
15: 82,675,190 (GRCm39) |
Q388R |
probably benign |
Het |
Ddb1 |
A |
T |
19: 10,599,728 (GRCm39) |
T646S |
probably benign |
Het |
Dnah6 |
G |
T |
6: 73,172,617 (GRCm39) |
S280R |
probably benign |
Het |
Dzank1 |
T |
C |
2: 144,325,332 (GRCm39) |
H545R |
probably damaging |
Het |
Ehhadh |
T |
A |
16: 21,585,261 (GRCm39) |
M207L |
probably benign |
Het |
Elmo2 |
T |
A |
2: 165,133,627 (GRCm39) |
|
probably benign |
Het |
Golga3 |
G |
A |
5: 110,350,537 (GRCm39) |
A731T |
probably benign |
Het |
Igsf21 |
T |
C |
4: 139,755,378 (GRCm39) |
T426A |
possibly damaging |
Het |
Kcnf1 |
T |
C |
12: 17,224,742 (GRCm39) |
E493G |
probably benign |
Het |
Lmna |
A |
T |
3: 88,391,414 (GRCm39) |
D364E |
probably damaging |
Het |
Lsr |
T |
C |
7: 30,665,465 (GRCm39) |
Y163C |
probably damaging |
Het |
Map3k20 |
A |
T |
2: 72,268,558 (GRCm39) |
T522S |
probably benign |
Het |
Mroh9 |
C |
A |
1: 162,871,690 (GRCm39) |
A598S |
probably damaging |
Het |
Msln |
T |
C |
17: 25,971,957 (GRCm39) |
M87V |
probably benign |
Het |
Or14c39 |
A |
G |
7: 86,344,440 (GRCm39) |
K259E |
probably benign |
Het |
Or1e26 |
T |
C |
11: 73,480,549 (GRCm39) |
N5S |
probably damaging |
Het |
Or4a27 |
T |
A |
2: 88,559,892 (GRCm39) |
Q17L |
probably benign |
Het |
Or5d16 |
T |
A |
2: 87,773,232 (GRCm39) |
M247L |
probably benign |
Het |
Pals1 |
T |
A |
12: 78,867,589 (GRCm39) |
M324K |
possibly damaging |
Het |
Plekhg5 |
T |
A |
4: 152,192,322 (GRCm39) |
|
probably benign |
Het |
Pprc1 |
G |
T |
19: 46,053,197 (GRCm39) |
|
probably benign |
Het |
Ptprm |
T |
A |
17: 67,264,092 (GRCm39) |
K385I |
probably benign |
Het |
Rfxap |
T |
A |
3: 54,711,938 (GRCm39) |
N215I |
probably damaging |
Het |
Slc16a7 |
A |
T |
10: 125,069,333 (GRCm39) |
Y114* |
probably null |
Het |
Smarcb1 |
G |
T |
10: 75,747,628 (GRCm39) |
|
probably benign |
Het |
Spef2 |
T |
A |
15: 9,668,877 (GRCm39) |
R770* |
probably null |
Het |
Stard9 |
A |
T |
2: 120,528,342 (GRCm39) |
Y1533F |
probably benign |
Het |
Tbcd |
A |
T |
11: 121,500,853 (GRCm39) |
Y1142F |
probably benign |
Het |
Trappc2b |
A |
T |
11: 51,576,893 (GRCm39) |
S2T |
probably benign |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Upb1 |
T |
C |
10: 75,248,638 (GRCm39) |
S53P |
possibly damaging |
Het |
Zfp672 |
A |
G |
11: 58,207,677 (GRCm39) |
S215P |
possibly damaging |
Het |
Zfp978 |
T |
A |
4: 147,475,437 (GRCm39) |
L328H |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGAGTAGTGTCAGCAGACC -3'
(R):5'- ACAGGCTGAAGACCCATGTG -3'
Sequencing Primer
(F):5'- TCAGCAGACCTGAGTATCCTGAG -3'
(R):5'- CCATGTGGGGAAGGGGC -3'
|
Posted On |
2016-06-21 |