Incidental Mutation 'R0661:Ufsp2'
ID |
61841 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ufsp2
|
Ensembl Gene |
ENSMUSG00000031634 |
Gene Name |
UFM1-specific peptidase 2 |
Synonyms |
1810047C23Rik |
MMRRC Submission |
038846-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0661 (G1)
|
Quality Score |
102 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
46428565-46449995 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to A
at 46432270 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147971
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034051]
[ENSMUST00000095323]
[ENSMUST00000098786]
[ENSMUST00000123307]
[ENSMUST00000130412]
[ENSMUST00000209443]
[ENSMUST00000150943]
[ENSMUST00000210081]
|
AlphaFold |
Q99K23 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034051
AA Change: M1K
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000034051 Gene: ENSMUSG00000031634 AA Change: M1K
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: ENSMUST00000095323
|
SMART Domains |
Protein: ENSMUSP00000092961 Gene: ENSMUSG00000071103
Domain | Start | End | E-Value | Type |
Pfam:DUF4586
|
7 |
297 |
1.2e-110 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098786
|
SMART Domains |
Protein: ENSMUSP00000096383 Gene: ENSMUSG00000071103
Domain | Start | End | E-Value | Type |
Pfam:DUF4586
|
8 |
294 |
6.8e-114 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123041
|
Predicted Effect |
probably null
Transcript: ENSMUST00000123307
AA Change: M1K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000130412
AA Change: M1K
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000209443
AA Change: M1K
|
Predicted Effect |
probably null
Transcript: ENSMUST00000150943
AA Change: M1K
PolyPhen 2
Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000210081
AA Change: M1K
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtr1b |
T |
A |
3: 20,370,163 (GRCm39) |
T148S |
possibly damaging |
Het |
Anks3 |
A |
G |
16: 4,766,198 (GRCm39) |
F124L |
probably damaging |
Het |
Ar |
T |
A |
X: 97,194,171 (GRCm39) |
Y262N |
probably damaging |
Het |
Asxl1 |
T |
A |
2: 153,242,644 (GRCm39) |
S1065T |
possibly damaging |
Het |
Brip1 |
A |
T |
11: 86,001,189 (GRCm39) |
I749N |
possibly damaging |
Het |
C1ra |
T |
A |
6: 124,499,336 (GRCm39) |
H507Q |
probably benign |
Het |
Cdk9 |
G |
A |
2: 32,599,832 (GRCm39) |
T135I |
probably damaging |
Het |
Col1a1 |
A |
G |
11: 94,840,215 (GRCm39) |
T1088A |
unknown |
Het |
Cpne2 |
T |
C |
8: 95,282,667 (GRCm39) |
I283T |
possibly damaging |
Het |
Dcaf17 |
T |
C |
2: 70,918,779 (GRCm39) |
L451P |
probably damaging |
Het |
Dhx57 |
C |
T |
17: 80,576,293 (GRCm39) |
C599Y |
probably damaging |
Het |
Drd1 |
T |
A |
13: 54,207,057 (GRCm39) |
N379Y |
possibly damaging |
Het |
Fsip2 |
A |
G |
2: 82,816,513 (GRCm39) |
D4082G |
possibly damaging |
Het |
Grin2a |
G |
T |
16: 9,810,336 (GRCm39) |
P21Q |
probably damaging |
Het |
Heyl |
G |
T |
4: 123,139,824 (GRCm39) |
V128F |
probably damaging |
Het |
Hoxd12 |
A |
G |
2: 74,506,236 (GRCm39) |
E216G |
probably damaging |
Het |
Inpp4b |
C |
A |
8: 82,468,091 (GRCm39) |
A18E |
possibly damaging |
Het |
Invs |
G |
A |
4: 48,421,861 (GRCm39) |
R831H |
probably benign |
Het |
Lrrk2 |
T |
C |
15: 91,671,219 (GRCm39) |
V2000A |
probably damaging |
Het |
Msh3 |
T |
C |
13: 92,481,604 (GRCm39) |
N303D |
possibly damaging |
Het |
Or11g27 |
A |
G |
14: 50,771,552 (GRCm39) |
T228A |
probably benign |
Het |
Or5an9 |
T |
C |
19: 12,187,068 (GRCm39) |
L46P |
probably damaging |
Het |
Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
Pcdh18 |
A |
C |
3: 49,707,767 (GRCm39) |
S902R |
possibly damaging |
Het |
Prdm15 |
A |
T |
16: 97,630,882 (GRCm39) |
V190E |
probably benign |
Het |
Ranbp2 |
T |
G |
10: 58,314,555 (GRCm39) |
S1758R |
probably benign |
Het |
Rimbp2 |
A |
G |
5: 128,863,774 (GRCm39) |
V738A |
probably benign |
Het |
Rtl5 |
T |
C |
X: 101,114,056 (GRCm39) |
H138R |
possibly damaging |
Het |
Sec11a |
A |
G |
7: 80,584,787 (GRCm39) |
V50A |
probably damaging |
Het |
Shroom1 |
T |
C |
11: 53,357,764 (GRCm39) |
S772P |
possibly damaging |
Het |
Slc26a6 |
T |
C |
9: 108,736,312 (GRCm39) |
|
probably null |
Het |
Slf1 |
A |
G |
13: 77,231,715 (GRCm39) |
W555R |
probably benign |
Het |
Spx |
A |
G |
6: 142,359,565 (GRCm39) |
S5G |
possibly damaging |
Het |
Tcp1 |
T |
C |
17: 13,142,200 (GRCm39) |
V398A |
probably benign |
Het |
Tm6sf1 |
G |
A |
7: 81,515,093 (GRCm39) |
|
probably null |
Het |
Tsbp1 |
A |
T |
17: 34,678,887 (GRCm39) |
I217F |
possibly damaging |
Het |
Usf1 |
G |
A |
1: 171,245,067 (GRCm39) |
R196Q |
probably damaging |
Het |
Vmn2r75 |
G |
A |
7: 85,814,866 (GRCm39) |
A209V |
probably benign |
Het |
Yme1l1 |
T |
A |
2: 23,081,054 (GRCm39) |
M442K |
probably damaging |
Het |
Zfand3 |
A |
G |
17: 30,354,372 (GRCm39) |
E63G |
probably damaging |
Het |
Zfp740 |
A |
G |
15: 102,121,094 (GRCm39) |
T136A |
possibly 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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCTGTTCCAGAGTTAGGAGGCATTG -3'
(R):5'- TGGCATCAGCCTCAGCCAAAAG -3'
Sequencing Primer
(F):5'- CTAAGTGTCCCTAGATGACTTCAG -3'
(R):5'- tgacaattttcttcaagacagcc -3'
|
Posted On |
2013-07-30 |