Incidental Mutation 'R3927:Ufsp2'
| ID |
308332 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ufsp2
|
| Ensembl Gene |
ENSMUSG00000031634 |
| Gene Name |
UFM1-specific peptidase 2 |
| Synonyms |
1810047C23Rik |
| MMRRC Submission |
040822-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3927 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
46428565-46449995 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 46436723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034051]
[ENSMUST00000123307]
[ENSMUST00000130412]
[ENSMUST00000150943]
[ENSMUST00000209443]
[ENSMUST00000210081]
|
| AlphaFold |
Q99K23 |
| PDB Structure |
Ubiquitin-fold modifier 1 Specific Protease, UfSP2 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000034051
|
| SMART Domains |
Protein: ENSMUSP00000034051
Gene: ENSMUSG00000031634
| 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 |
noncoding transcript
Transcript: ENSMUST00000123041
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123307
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130412
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150943
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209443
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210081
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
95% (40/42) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
A |
G |
2: 103,538,563 (GRCm39) |
|
probably null |
Het |
| Alpk1 |
T |
C |
3: 127,471,365 (GRCm39) |
H1039R |
probably damaging |
Het |
| Avpr1a |
A |
G |
10: 122,285,616 (GRCm39) |
S303G |
probably benign |
Het |
| Axdnd1 |
A |
G |
1: 156,246,840 (GRCm39) |
L79S |
probably damaging |
Het |
| Baz1a |
A |
G |
12: 54,967,928 (GRCm39) |
I667T |
possibly damaging |
Het |
| Bend5 |
A |
G |
4: 111,305,802 (GRCm39) |
Y282C |
possibly damaging |
Het |
| Clstn3 |
T |
C |
6: 124,428,327 (GRCm39) |
D438G |
probably damaging |
Het |
| Cog3 |
A |
G |
14: 75,980,998 (GRCm39) |
|
probably benign |
Het |
| Cyp2j6 |
T |
C |
4: 96,441,525 (GRCm39) |
N55S |
probably benign |
Het |
| Eif4b |
G |
A |
15: 101,992,745 (GRCm39) |
G101R |
probably damaging |
Het |
| Epha2 |
T |
C |
4: 141,033,861 (GRCm39) |
L40P |
probably damaging |
Het |
| Fig4 |
A |
G |
10: 41,139,135 (GRCm39) |
V356A |
probably benign |
Het |
| Hal |
T |
C |
10: 93,349,888 (GRCm39) |
|
probably benign |
Het |
| Helz |
A |
G |
11: 107,576,118 (GRCm39) |
Y1770C |
unknown |
Het |
| Meis3 |
A |
G |
7: 15,911,419 (GRCm39) |
T39A |
probably benign |
Het |
| Nod1 |
G |
T |
6: 54,921,902 (GRCm39) |
R139S |
probably benign |
Het |
| Or6n2 |
A |
T |
1: 173,896,878 (GRCm39) |
N5Y |
probably damaging |
Het |
| Pacsin3 |
C |
T |
2: 91,093,286 (GRCm39) |
|
probably null |
Het |
| Plekhh1 |
T |
A |
12: 79,100,422 (GRCm39) |
I130N |
probably damaging |
Het |
| Plxna2 |
G |
A |
1: 194,428,465 (GRCm39) |
E512K |
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 5,057,531 (GRCm39) |
I215M |
probably damaging |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Sap130 |
A |
T |
18: 31,807,435 (GRCm39) |
H414L |
possibly damaging |
Het |
| Slc33a1 |
A |
G |
3: 63,871,145 (GRCm39) |
I156T |
probably benign |
Het |
| Slc37a2 |
G |
A |
9: 37,146,803 (GRCm39) |
T338M |
probably damaging |
Het |
| Spinkl |
T |
A |
18: 44,302,230 (GRCm39) |
|
probably null |
Het |
| Tmc5 |
T |
A |
7: 118,251,878 (GRCm39) |
L657* |
probably null |
Het |
| Tmem217 |
A |
G |
17: 29,745,677 (GRCm39) |
S18P |
probably damaging |
Het |
| Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
| Tubb4a |
A |
G |
17: 57,387,967 (GRCm39) |
V353A |
probably benign |
Het |
| Ube3b |
T |
C |
5: 114,553,741 (GRCm39) |
F974L |
probably benign |
Het |
| Ubqln5 |
A |
G |
7: 103,777,678 (GRCm39) |
L382P |
probably damaging |
Het |
| Unkl |
C |
T |
17: 25,448,303 (GRCm39) |
T66I |
probably damaging |
Het |
| Xrn2 |
T |
A |
2: 146,880,109 (GRCm39) |
N477K |
probably benign |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,749,208 (GRCm39) |
S899P |
probably damaging |
Het |
| Zzz3 |
T |
C |
3: 152,161,499 (GRCm39) |
Y298H |
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 |
|
|
IGL02122:Ufsp2
|
APN |
8 |
46,448,685 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCCACAAGTTGACTCTTACTGTC -3'
(R):5'- GGAAGCCTTCTCAGTTTCAGC -3'
Sequencing Primer
(F):5'- ACTGTCTGTCTGTATAGCAACAG -3'
(R):5'- AGTTTCAGCATGCTATCCCAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation