Incidental Mutation 'R4736:Uba7'
| ID |
359264 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uba7
|
| Ensembl Gene |
ENSMUSG00000032596 |
| Gene Name |
ubiquitin-like modifier activating enzyme 7 |
| Synonyms |
Ube1l, 1300004C08Rik |
| MMRRC Submission |
041963-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R4736 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
107852766-107861255 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107857364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 742
(L742P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035216]
[ENSMUST00000048568]
[ENSMUST00000175914]
[ENSMUST00000177392]
[ENSMUST00000177368]
|
| AlphaFold |
Q9DBK7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035216
AA Change: L742P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000035216
Gene: ENSMUSG00000032596
AA Change: L742P
| 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: ENSMUST00000176673
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176478
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176858
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177494
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177071
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177096
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176340
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176382
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176743
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176842
|
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.4%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,774,246 (GRCm39) |
I1145T |
probably damaging |
Het |
| Aadat |
T |
C |
8: 60,993,140 (GRCm39) |
V360A |
probably benign |
Het |
| Abhd16a |
A |
T |
17: 35,320,859 (GRCm39) |
T436S |
probably benign |
Het |
| Acbd5 |
G |
T |
2: 22,989,596 (GRCm39) |
L406F |
probably damaging |
Het |
| Agrn |
G |
A |
4: 156,256,858 (GRCm39) |
T1142M |
probably benign |
Het |
| Aig1 |
C |
A |
10: 13,677,674 (GRCm39) |
W106L |
probably damaging |
Het |
| Akr1d1 |
T |
C |
6: 37,534,535 (GRCm39) |
|
probably null |
Het |
| Ap1g1 |
G |
A |
8: 110,581,714 (GRCm39) |
D658N |
possibly damaging |
Het |
| Arhgap45 |
A |
G |
10: 79,862,006 (GRCm39) |
Y520C |
probably damaging |
Het |
| Arhgap5 |
A |
T |
12: 52,565,860 (GRCm39) |
M944L |
probably benign |
Het |
| Asic5 |
C |
T |
3: 81,907,116 (GRCm39) |
T47I |
possibly damaging |
Het |
| Cabp5 |
A |
G |
7: 13,134,664 (GRCm39) |
|
probably null |
Het |
| Ccr6 |
A |
T |
17: 8,474,896 (GRCm39) |
R34* |
probably null |
Het |
| Cdin1 |
A |
G |
2: 115,412,369 (GRCm39) |
I2V |
probably benign |
Het |
| Clec4a2 |
T |
C |
6: 123,117,622 (GRCm39) |
I180T |
probably damaging |
Het |
| Cmtr1 |
A |
G |
17: 29,919,216 (GRCm39) |
E704G |
possibly damaging |
Het |
| Cyth3 |
G |
A |
5: 143,670,234 (GRCm39) |
|
probably null |
Het |
| Dbt |
T |
C |
3: 116,332,781 (GRCm39) |
I200T |
probably damaging |
Het |
| Dennd6b |
T |
C |
15: 89,069,795 (GRCm39) |
H468R |
probably benign |
Het |
| Depdc5 |
A |
G |
5: 33,132,666 (GRCm39) |
M1237V |
probably benign |
Het |
| Dpp6 |
A |
G |
5: 27,917,657 (GRCm39) |
Y616C |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,006,862 (GRCm39) |
S3710T |
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,925,408 (GRCm39) |
S1584T |
probably benign |
Het |
| Emc3 |
G |
A |
6: 113,508,310 (GRCm39) |
T45I |
possibly damaging |
Het |
| Esf1 |
T |
A |
2: 139,966,891 (GRCm39) |
D685V |
probably damaging |
Het |
| Ezr |
A |
G |
17: 7,008,975 (GRCm39) |
S366P |
probably benign |
Het |
| Gbe1 |
C |
T |
16: 70,292,141 (GRCm39) |
A491V |
probably damaging |
Het |
| Haus6 |
A |
G |
4: 86,518,986 (GRCm39) |
|
probably null |
Het |
| Heca |
G |
A |
10: 17,790,935 (GRCm39) |
Q12* |
probably null |
Het |
| Hpdl |
T |
C |
4: 116,678,221 (GRCm39) |
N80S |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,249,840 (GRCm39) |
Q2261L |
probably benign |
Het |
| Itgae |
G |
T |
11: 73,005,706 (GRCm39) |
R290L |
possibly damaging |
Het |
| Kcna10 |
C |
A |
3: 107,102,808 (GRCm39) |
L480I |
probably benign |
Het |
| Kif27 |
T |
C |
13: 58,476,785 (GRCm39) |
T622A |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,080,925 (GRCm39) |
N966S |
probably damaging |
Het |
| Mdfic |
A |
G |
6: 15,741,019 (GRCm39) |
K38E |
possibly damaging |
Het |
| Med25 |
G |
A |
7: 44,541,712 (GRCm39) |
A26V |
probably damaging |
Het |
| Mrpl19 |
A |
T |
6: 81,941,329 (GRCm39) |
S77R |
probably damaging |
Het |
| Mtcl2 |
T |
A |
2: 156,862,474 (GRCm39) |
D1485V |
probably damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,161,971 (GRCm39) |
D493G |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,131,746 (GRCm39) |
T69A |
probably benign |
Het |
| Myo16 |
G |
T |
8: 10,423,527 (GRCm39) |
G288W |
probably damaging |
Het |
| Myo9b |
T |
C |
8: 71,809,236 (GRCm39) |
L1815P |
probably damaging |
Het |
| Myom2 |
T |
A |
8: 15,131,271 (GRCm39) |
L323Q |
probably damaging |
Het |
| Naip1 |
T |
C |
13: 100,581,034 (GRCm39) |
D71G |
possibly damaging |
Het |
| Nktr |
T |
A |
9: 121,578,805 (GRCm39) |
|
probably benign |
Het |
| Nol10 |
A |
G |
12: 17,405,288 (GRCm39) |
K88E |
probably damaging |
Het |
| Nol4 |
T |
C |
18: 22,852,050 (GRCm39) |
D505G |
probably damaging |
Het |
| Nynrin |
T |
A |
14: 56,101,454 (GRCm39) |
N374K |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,954,362 (GRCm39) |
L3740Q |
probably damaging |
Het |
| Or5g23 |
T |
C |
2: 85,438,327 (GRCm39) |
H309R |
probably benign |
Het |
| Otub2 |
T |
A |
12: 103,359,103 (GRCm39) |
L64Q |
probably benign |
Het |
| Pgm5 |
G |
A |
19: 24,812,169 (GRCm39) |
A121V |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,195,039 (GRCm39) |
Y120N |
probably benign |
Het |
| Rpl36al |
G |
A |
12: 69,229,732 (GRCm39) |
A60V |
possibly damaging |
Het |
| Rspo4 |
T |
C |
2: 151,685,054 (GRCm39) |
Y21H |
probably benign |
Het |
| Scube2 |
A |
G |
7: 109,430,412 (GRCm39) |
V455A |
probably benign |
Het |
| Serpina1f |
T |
C |
12: 103,659,805 (GRCm39) |
D159G |
probably damaging |
Het |
| Sf1 |
A |
G |
19: 6,415,694 (GRCm39) |
D11G |
probably damaging |
Het |
| Siglecg |
T |
C |
7: 43,067,332 (GRCm39) |
F633S |
probably benign |
Het |
| Skic2 |
A |
G |
17: 35,067,173 (GRCm39) |
S89P |
possibly damaging |
Het |
| Slc22a13 |
T |
C |
9: 119,022,698 (GRCm39) |
E501G |
probably damaging |
Het |
| Slc44a3 |
A |
G |
3: 121,303,855 (GRCm39) |
S294P |
probably damaging |
Het |
| Smad3 |
T |
G |
9: 63,664,842 (GRCm39) |
K40Q |
probably damaging |
Het |
| Stt3a |
T |
A |
9: 36,661,008 (GRCm39) |
M268L |
probably benign |
Het |
| Taf4 |
A |
T |
2: 179,566,287 (GRCm39) |
V817E |
probably damaging |
Het |
| Tgfbr1 |
A |
G |
4: 47,383,835 (GRCm39) |
T58A |
probably benign |
Het |
| Trpc6 |
T |
C |
9: 8,609,871 (GRCm39) |
V113A |
probably damaging |
Het |
| Ttll13 |
T |
A |
7: 79,898,024 (GRCm39) |
|
probably null |
Het |
| Ulk2 |
A |
G |
11: 61,724,261 (GRCm39) |
L174P |
probably damaging |
Het |
| Unc5c |
A |
T |
3: 141,522,692 (GRCm39) |
Y706F |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,688,831 (GRCm39) |
|
probably null |
Het |
| Usp34 |
T |
A |
11: 23,343,749 (GRCm39) |
|
probably null |
Het |
| Vmn1r71 |
A |
T |
7: 10,481,791 (GRCm39) |
V233D |
possibly damaging |
Het |
| Xpo6 |
T |
C |
7: 125,739,755 (GRCm39) |
K439R |
probably benign |
Het |
| Xrn1 |
G |
T |
9: 95,915,689 (GRCm39) |
G1271C |
probably damaging |
Het |
| Yes1 |
A |
T |
5: 32,818,121 (GRCm39) |
E386V |
probably damaging |
Het |
| Zfp759 |
C |
A |
13: 67,287,408 (GRCm39) |
H320N |
probably damaging |
Het |
| Zfp990 |
A |
T |
4: 145,263,512 (GRCm39) |
H170L |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATGCATCCCATCCCGTGTAC -3'
(R):5'- ATCAGCAAAGTAAGAGGCCC -3'
Sequencing Primer
(F):5'- TGTACCCACGGTCCTGC -3'
(R):5'- CTCCAGTTTCAGGGGATCGATAAAC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation