Incidental Mutation 'IGL03182:Uba5'
| ID |
412295 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Uba5
|
| Ensembl Gene |
ENSMUSG00000032557 |
| Gene Name |
ubiquitin-like modifier activating enzyme 5 |
| Synonyms |
5730525G14Rik, Ube1dc1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03182
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
103923798-103940333 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103931328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 247
(V247D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035166]
[ENSMUST00000140768]
[ENSMUST00000144195]
|
| AlphaFold |
Q8VE47 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035166
AA Change: V247D
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000035166
Gene: ENSMUSG00000032557
AA Change: V247D
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
|
Pfam:ThiF
|
51 |
309 |
2.8e-48 |
PFAM |
|
low complexity region
|
317 |
332 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
353 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140768
|
| SMART Domains |
Protein: ENSMUSP00000118734
Gene: ENSMUSG00000032557
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
|
Pfam:ThiF
|
70 |
101 |
1.5e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144195
|
| SMART Domains |
Protein: ENSMUSP00000118535
Gene: ENSMUSG00000032557
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ThiF
|
1 |
119 |
1.9e-22 |
PFAM |
|
low complexity region
|
220 |
235 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
256 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147249
|
| SMART Domains |
Protein: ENSMUSP00000115381
Gene: ENSMUSG00000101152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPR_12
|
1 |
48 |
3e-14 |
PFAM |
|
Pfam:TPR_12
|
12 |
75 |
2.1e-14 |
PFAM |
|
Pfam:TPR_10
|
15 |
56 |
7.8e-13 |
PFAM |
|
Pfam:TPR_1
|
16 |
49 |
4.4e-9 |
PFAM |
|
Pfam:TPR_7
|
18 |
58 |
7e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191568
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193563
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214222
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been identified on chromosome 1. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele die at E12.5. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(2) : Targeted, knock-out(1) Targeted, other(1) |
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
A |
T |
6: 34,780,435 (GRCm39) |
K469N |
probably damaging |
Het |
| Aldh2 |
A |
G |
5: 121,718,787 (GRCm39) |
|
probably benign |
Het |
| Ankfy1 |
T |
C |
11: 72,619,580 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
C |
T |
18: 36,711,827 (GRCm39) |
T209I |
probably benign |
Het |
| Aox3 |
G |
A |
1: 58,205,046 (GRCm39) |
V754I |
probably benign |
Het |
| Arfgef3 |
C |
T |
10: 18,476,292 (GRCm39) |
R1509H |
probably damaging |
Het |
| Ccdc157 |
A |
G |
11: 4,101,832 (GRCm39) |
S30P |
probably damaging |
Het |
| Cept1 |
T |
A |
3: 106,411,866 (GRCm39) |
E369D |
probably damaging |
Het |
| Clcnka |
T |
C |
4: 141,121,798 (GRCm39) |
Y236C |
probably damaging |
Het |
| Ddx42 |
A |
T |
11: 106,138,353 (GRCm39) |
L717F |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 117,994,026 (GRCm39) |
I2340N |
probably damaging |
Het |
| Dsel |
T |
C |
1: 111,787,868 (GRCm39) |
E889G |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,703,552 (GRCm39) |
Y1560C |
probably damaging |
Het |
| Fermt2 |
A |
T |
14: 45,699,225 (GRCm39) |
M623K |
possibly damaging |
Het |
| Gm21970 |
T |
A |
16: 91,190,726 (GRCm39) |
S110T |
possibly damaging |
Het |
| Gm826 |
T |
A |
2: 160,169,035 (GRCm39) |
R91S |
unknown |
Het |
| Lrrn3 |
A |
G |
12: 41,504,020 (GRCm39) |
L99S |
probably damaging |
Het |
| Megf8 |
T |
A |
7: 25,046,773 (GRCm39) |
M1552K |
possibly damaging |
Het |
| Mgll |
G |
T |
6: 88,800,173 (GRCm39) |
V191F |
probably damaging |
Het |
| Nkapd1 |
T |
C |
9: 50,523,698 (GRCm39) |
N50S |
possibly damaging |
Het |
| Nol8 |
C |
A |
13: 49,817,557 (GRCm39) |
H778N |
probably damaging |
Het |
| Or1e26 |
T |
A |
11: 73,480,268 (GRCm39) |
T99S |
probably benign |
Het |
| Or5b116 |
A |
C |
19: 13,422,807 (GRCm39) |
T144P |
possibly damaging |
Het |
| Or8g30 |
A |
T |
9: 39,230,277 (GRCm39) |
M211K |
probably benign |
Het |
| Or8k40 |
A |
T |
2: 86,584,366 (GRCm39) |
S239T |
probably damaging |
Het |
| Pfkfb3 |
A |
T |
2: 11,506,474 (GRCm39) |
I13N |
probably damaging |
Het |
| Pim1 |
T |
A |
17: 29,710,740 (GRCm39) |
D114E |
possibly damaging |
Het |
| Pkd1 |
T |
C |
17: 24,792,792 (GRCm39) |
L1493P |
probably damaging |
Het |
| Plb1 |
A |
T |
5: 32,502,259 (GRCm39) |
|
probably benign |
Het |
| Plch1 |
A |
T |
3: 63,610,015 (GRCm39) |
Y872* |
probably null |
Het |
| Rictor |
A |
G |
15: 6,819,079 (GRCm39) |
D1434G |
probably benign |
Het |
| Rptor |
G |
A |
11: 119,615,971 (GRCm39) |
G162R |
probably damaging |
Het |
| Serping1 |
T |
C |
2: 84,596,162 (GRCm39) |
D424G |
probably damaging |
Het |
| Slit2 |
A |
G |
5: 48,377,395 (GRCm39) |
I475V |
possibly damaging |
Het |
| Snx31 |
G |
T |
15: 36,525,833 (GRCm39) |
Q289K |
probably benign |
Het |
| Tbc1d13 |
G |
A |
2: 30,037,379 (GRCm39) |
A254T |
probably damaging |
Het |
| Tek |
T |
C |
4: 94,740,002 (GRCm39) |
I750T |
probably damaging |
Het |
| Tet2 |
A |
T |
3: 133,177,159 (GRCm39) |
L1296* |
probably null |
Het |
| Tmem145 |
T |
A |
7: 25,014,304 (GRCm39) |
F459I |
probably damaging |
Het |
| Vmn1r83 |
T |
C |
7: 12,055,617 (GRCm39) |
M147V |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,187,138 (GRCm39) |
D783G |
probably damaging |
Het |
| Zfp609 |
A |
G |
9: 65,608,287 (GRCm39) |
S1198P |
probably benign |
Het |
|
| Other mutations in Uba5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02238:Uba5
|
APN |
9 |
103,931,259 (GRCm39) |
splice site |
probably benign |
|
|
IGL02891:Uba5
|
APN |
9 |
103,931,392 (GRCm39) |
splice site |
probably benign |
|
|
3-1:Uba5
|
UTSW |
9 |
103,937,591 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4810001:Uba5
|
UTSW |
9 |
103,932,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0033:Uba5
|
UTSW |
9 |
103,931,347 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0033:Uba5
|
UTSW |
9 |
103,931,347 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0745:Uba5
|
UTSW |
9 |
103,926,710 (GRCm39) |
unclassified |
probably benign |
|
|
R1018:Uba5
|
UTSW |
9 |
103,927,102 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1163:Uba5
|
UTSW |
9 |
103,933,025 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1771:Uba5
|
UTSW |
9 |
103,927,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2164:Uba5
|
UTSW |
9 |
103,937,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3916:Uba5
|
UTSW |
9 |
103,931,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5072:Uba5
|
UTSW |
9 |
103,931,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5177:Uba5
|
UTSW |
9 |
103,926,497 (GRCm39) |
missense |
probably benign |
|
|
R5563:Uba5
|
UTSW |
9 |
103,926,446 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6606:Uba5
|
UTSW |
9 |
103,932,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7258:Uba5
|
UTSW |
9 |
103,940,132 (GRCm39) |
missense |
unknown |
|
|
R7337:Uba5
|
UTSW |
9 |
103,932,454 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9546:Uba5
|
UTSW |
9 |
103,931,567 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9547:Uba5
|
UTSW |
9 |
103,931,567 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation