Incidental Mutation 'IGL02122:Ufsp2'
| ID |
280683 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ufsp2
|
| Ensembl Gene |
ENSMUSG00000031634 |
| Gene Name |
UFM1-specific peptidase 2 |
| Synonyms |
1810047C23Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02122
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
46428565-46449995 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 46448685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 429
(V429I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034051]
[ENSMUST00000053558]
[ENSMUST00000066451]
[ENSMUST00000110380]
[ENSMUST00000130412]
[ENSMUST00000153674]
[ENSMUST00000209443]
[ENSMUST00000210081]
|
| AlphaFold |
Q99K23 |
| PDB Structure |
Ubiquitin-fold modifier 1 Specific Protease, UfSP2 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034051
AA Change: V429I
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000034051
Gene: ENSMUSG00000031634
AA Change: V429I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
87 |
103 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C78
|
268 |
453 |
1.3e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053558
|
| SMART Domains |
Protein: ENSMUSP00000056828
Gene: ENSMUSG00000050914
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
|
ANK
|
63 |
92 |
7.71e-2 |
SMART |
|
ANK
|
96 |
125 |
7.29e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066451
|
| SMART Domains |
Protein: ENSMUSP00000067177
Gene: ENSMUSG00000031637
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
53 |
N/A |
INTRINSIC |
|
SEL1
|
110 |
145 |
4.45e-3 |
SMART |
|
SEL1
|
153 |
188 |
5.07e-7 |
SMART |
|
SEL1
|
193 |
226 |
6.3e-3 |
SMART |
|
SEL1
|
227 |
262 |
3.9e-8 |
SMART |
|
Blast:SEL1
|
263 |
293 |
1e-5 |
BLAST |
|
SEL1
|
317 |
352 |
7.57e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110380
|
| SMART Domains |
Protein: ENSMUSP00000106009
Gene: ENSMUSG00000031637
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
32 |
N/A |
INTRINSIC |
|
SEL1
|
89 |
124 |
4.45e-3 |
SMART |
|
SEL1
|
132 |
167 |
5.07e-7 |
SMART |
|
SEL1
|
172 |
205 |
6.3e-3 |
SMART |
|
SEL1
|
206 |
241 |
3.9e-8 |
SMART |
|
Blast:SEL1
|
242 |
272 |
1e-5 |
BLAST |
|
SEL1
|
296 |
331 |
7.57e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130412
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131008
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141334
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153674
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209443
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144525
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210971
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151983
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210081
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210608
|
| 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 highly conserved cysteine protease. The protein cleaves two C-terminal residues from ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein. Activation of ubiquitin-fold modifier 1 by the encoded protein exposes a C-terminal glycine residue that allows interaction with other proteins and transfer to its target protein. An allelic variant of this gene has been associated with Beukes hip dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
C |
T |
12: 71,217,299 (GRCm39) |
T756I |
possibly damaging |
Het |
| Abi3bp |
T |
C |
16: 56,507,491 (GRCm39) |
|
probably benign |
Het |
| Adcy5 |
G |
A |
16: 35,103,982 (GRCm39) |
|
probably benign |
Het |
| Adcy6 |
T |
A |
15: 98,496,763 (GRCm39) |
H504L |
possibly damaging |
Het |
| Ank2 |
A |
G |
3: 126,731,523 (GRCm39) |
|
probably benign |
Het |
| Atxn2 |
A |
G |
5: 121,916,093 (GRCm39) |
D34G |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Carmil1 |
T |
C |
13: 24,220,541 (GRCm39) |
E657G |
possibly damaging |
Het |
| Cdc25c |
T |
C |
18: 34,877,038 (GRCm39) |
I212V |
probably benign |
Het |
| Chl1 |
A |
G |
6: 103,652,098 (GRCm39) |
D338G |
probably benign |
Het |
| Cog6 |
T |
C |
3: 52,905,763 (GRCm39) |
I361V |
probably benign |
Het |
| Dip2c |
T |
C |
13: 9,556,695 (GRCm39) |
S80P |
possibly damaging |
Het |
| Dmrtc2 |
A |
T |
7: 24,572,008 (GRCm39) |
R34S |
possibly damaging |
Het |
| Exph5 |
A |
G |
9: 53,284,974 (GRCm39) |
N685S |
probably benign |
Het |
| Flnc |
A |
T |
6: 29,444,335 (GRCm39) |
I684L |
possibly damaging |
Het |
| Foxk1 |
T |
A |
5: 142,437,184 (GRCm39) |
|
probably benign |
Het |
| Gprc6a |
T |
C |
10: 51,502,819 (GRCm39) |
N348S |
probably benign |
Het |
| Gspt1 |
T |
C |
16: 11,047,080 (GRCm39) |
K445R |
probably damaging |
Het |
| Hace1 |
T |
C |
10: 45,494,700 (GRCm39) |
V170A |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,221,047 (GRCm39) |
I1481T |
possibly damaging |
Het |
| Ighv4-1 |
A |
T |
12: 113,912,145 (GRCm39) |
L36Q |
possibly damaging |
Het |
| Ints1 |
G |
A |
5: 139,750,905 (GRCm39) |
Q833* |
probably null |
Het |
| Myo15a |
T |
C |
11: 60,374,292 (GRCm39) |
F96L |
probably benign |
Het |
| Myom1 |
G |
T |
17: 71,399,132 (GRCm39) |
R998L |
probably damaging |
Het |
| Nacc2 |
A |
G |
2: 25,979,960 (GRCm39) |
S159P |
probably benign |
Het |
| Or5k15 |
T |
C |
16: 58,710,134 (GRCm39) |
T150A |
probably benign |
Het |
| Or5w10 |
A |
G |
2: 87,375,447 (GRCm39) |
V147A |
probably benign |
Het |
| Or7e177 |
T |
A |
9: 20,211,880 (GRCm39) |
L128Q |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,811,573 (GRCm39) |
I1197V |
probably damaging |
Het |
| Pde4dip |
G |
A |
3: 97,674,737 (GRCm39) |
R60C |
probably damaging |
Het |
| Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
| Pitpnm1 |
T |
C |
19: 4,157,796 (GRCm39) |
Y499H |
probably damaging |
Het |
| Plekhn1 |
C |
T |
4: 156,308,313 (GRCm39) |
|
probably null |
Het |
| Prmt8 |
A |
G |
6: 127,667,680 (GRCm39) |
Y332H |
probably benign |
Het |
| Prpf38a |
A |
G |
4: 108,436,238 (GRCm39) |
I25T |
possibly damaging |
Het |
| Rpf1 |
T |
C |
3: 146,227,022 (GRCm39) |
K44E |
probably benign |
Het |
| Rusc2 |
T |
C |
4: 43,421,685 (GRCm39) |
F702L |
possibly damaging |
Het |
| Ryr2 |
A |
T |
13: 11,756,755 (GRCm39) |
I1633K |
probably damaging |
Het |
| Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
| Tkt |
T |
C |
14: 30,293,158 (GRCm39) |
V510A |
possibly damaging |
Het |
| Tmem106a |
C |
A |
11: 101,481,240 (GRCm39) |
N249K |
probably damaging |
Het |
| Tmpo |
A |
T |
10: 90,999,998 (GRCm39) |
S157T |
possibly damaging |
Het |
| Tspan32 |
A |
T |
7: 142,569,372 (GRCm39) |
I144F |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,641,679 (GRCm39) |
|
probably benign |
Het |
| Usp47 |
A |
T |
7: 111,706,115 (GRCm39) |
K1259M |
probably damaging |
Het |
| Zdhhc18 |
A |
T |
4: 133,340,946 (GRCm39) |
|
probably benign |
Het |
| Zfp507 |
G |
T |
7: 35,475,520 (GRCm39) |
L898I |
probably damaging |
Het |
|
| Other mutations in Ufsp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02092:Ufsp2
|
APN |
8 |
46,448,701 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02523:Ufsp2
|
APN |
8 |
46,436,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03031:Ufsp2
|
APN |
8 |
46,437,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0317:Ufsp2
|
UTSW |
8 |
46,445,270 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0523:Ufsp2
|
UTSW |
8 |
46,449,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0538:Ufsp2
|
UTSW |
8 |
46,445,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0661:Ufsp2
|
UTSW |
8 |
46,432,270 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R3927:Ufsp2
|
UTSW |
8 |
46,436,723 (GRCm39) |
splice site |
probably null |
|
|
R4319:Ufsp2
|
UTSW |
8 |
46,448,664 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4355:Ufsp2
|
UTSW |
8 |
46,438,502 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5183:Ufsp2
|
UTSW |
8 |
46,447,126 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5473:Ufsp2
|
UTSW |
8 |
46,445,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6726:Ufsp2
|
UTSW |
8 |
46,438,504 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7133:Ufsp2
|
UTSW |
8 |
46,436,661 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7534:Ufsp2
|
UTSW |
8 |
46,433,361 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8717:Ufsp2
|
UTSW |
8 |
46,436,614 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9122:Ufsp2
|
UTSW |
8 |
46,438,441 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9135:Ufsp2
|
UTSW |
8 |
46,447,050 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation