Incidental Mutation 'R0789:Usp44'
| ID |
76403 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp44
|
| Ensembl Gene |
ENSMUSG00000020020 |
| Gene Name |
ubiquitin specific peptidase 44 |
| Synonyms |
E430004F17Rik |
| MMRRC Submission |
038969-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0789 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
93667417-93693950 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 93683082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095333]
[ENSMUST00000216224]
|
| AlphaFold |
Q8C2S0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000095333
AA Change: S464P
|
| SMART Domains |
Protein: ENSMUSP00000092975
Gene: ENSMUSG00000020020
AA Change: S464P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-UBP
|
26 |
88 |
5.4e-23 |
PFAM |
|
Pfam:UCH
|
161 |
480 |
3.1e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216224
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.7%
- 20x: 91.7%
|
| Validation Efficiency |
98% (45/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a protease that functions as a deubiquitinating enzyme. The encoded protein is thought to help regulate the spindle assembly checkpoint by preventing early anaphase onset. This protein specifically deubiquitinates CDC20, which stabilizes the anaphase promoting complex/cyclosome. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit chromosomal instability, aneuploidy and increased tumor incidence. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb10 |
T |
C |
5: 24,744,862 (GRCm39) |
T111A |
probably damaging |
Het |
| BC024139 |
T |
C |
15: 76,005,283 (GRCm39) |
I526M |
possibly damaging |
Het |
| Cacnb4 |
C |
T |
2: 52,341,895 (GRCm39) |
V335I |
probably damaging |
Het |
| Ccdc33 |
C |
T |
9: 58,024,497 (GRCm39) |
|
probably benign |
Het |
| Cfap58 |
T |
G |
19: 47,943,748 (GRCm39) |
I316S |
probably benign |
Het |
| Chpf |
A |
T |
1: 75,452,407 (GRCm39) |
L349Q |
probably damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,072,210 (GRCm39) |
|
probably benign |
Het |
| Col4a4 |
G |
A |
1: 82,502,717 (GRCm39) |
P356S |
unknown |
Het |
| Dnah1 |
T |
C |
14: 31,026,548 (GRCm39) |
I777V |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,874,967 (GRCm39) |
V3966A |
probably damaging |
Het |
| Fbxo38 |
G |
A |
18: 62,648,570 (GRCm39) |
S656F |
possibly damaging |
Het |
| Fgf10 |
T |
A |
13: 118,925,741 (GRCm39) |
N173K |
probably benign |
Het |
| Flt1 |
C |
T |
5: 147,576,293 (GRCm39) |
E572K |
probably damaging |
Het |
| Gabra6 |
C |
A |
11: 42,205,844 (GRCm39) |
R336S |
probably benign |
Het |
| Glt8d2 |
T |
C |
10: 82,500,519 (GRCm39) |
N77S |
probably damaging |
Het |
| Grem1 |
C |
A |
2: 113,580,056 (GRCm39) |
K148N |
probably benign |
Het |
| Hat1 |
G |
A |
2: 71,252,088 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
T |
8: 111,293,603 (GRCm39) |
I3517F |
possibly damaging |
Het |
| Immt |
A |
G |
6: 71,838,051 (GRCm39) |
K253R |
probably damaging |
Het |
| Klk1b8 |
A |
C |
7: 43,595,151 (GRCm39) |
|
probably benign |
Het |
| Krt39 |
T |
C |
11: 99,411,888 (GRCm39) |
Y66C |
probably benign |
Het |
| Mrgprb1 |
T |
C |
7: 48,105,932 (GRCm39) |
|
probably benign |
Het |
| Nrp2 |
A |
G |
1: 62,784,609 (GRCm39) |
M253V |
probably benign |
Het |
| Omt2b |
G |
T |
9: 78,235,447 (GRCm39) |
|
probably benign |
Het |
| Or5as1 |
T |
C |
2: 86,980,171 (GRCm39) |
Y278C |
probably damaging |
Het |
| Or7g32 |
C |
A |
9: 19,408,458 (GRCm39) |
P138H |
possibly damaging |
Het |
| Pcdh20 |
T |
C |
14: 88,706,226 (GRCm39) |
Y358C |
probably damaging |
Het |
| Pik3r4 |
T |
C |
9: 105,562,366 (GRCm39) |
M1215T |
probably benign |
Het |
| Polr1has |
T |
C |
17: 37,275,852 (GRCm39) |
Y145H |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 156,984,891 (GRCm39) |
E927G |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,611,318 (GRCm39) |
|
probably null |
Het |
| Scaf8 |
T |
C |
17: 3,247,112 (GRCm39) |
C812R |
possibly damaging |
Het |
| Scart2 |
G |
T |
7: 139,828,133 (GRCm39) |
G114W |
probably damaging |
Het |
| Smpd4 |
T |
C |
16: 17,443,690 (GRCm39) |
V78A |
probably benign |
Het |
| Sp2 |
A |
T |
11: 96,852,202 (GRCm39) |
S241T |
probably benign |
Het |
| Tsga10 |
A |
T |
1: 37,840,868 (GRCm39) |
I446N |
possibly damaging |
Het |
| Ubr4 |
G |
A |
4: 139,137,582 (GRCm39) |
|
probably null |
Het |
| Usp54 |
A |
T |
14: 20,612,225 (GRCm39) |
S864T |
probably benign |
Het |
| Vmn2r56 |
A |
G |
7: 12,466,762 (GRCm39) |
Y91H |
probably damaging |
Het |
| Vmn2r96 |
T |
C |
17: 18,802,738 (GRCm39) |
V216A |
possibly damaging |
Het |
| Wdr17 |
A |
T |
8: 55,112,607 (GRCm39) |
|
probably benign |
Het |
| Zmym6 |
A |
G |
4: 127,016,615 (GRCm39) |
T799A |
possibly damaging |
Het |
|
| Other mutations in Usp44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4378001:Usp44
|
UTSW |
10 |
93,681,517 (GRCm39) |
start gained |
probably benign |
|
|
R0497:Usp44
|
UTSW |
10 |
93,682,668 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1521:Usp44
|
UTSW |
10 |
93,683,048 (GRCm39) |
nonsense |
probably null |
|
|
R4032:Usp44
|
UTSW |
10 |
93,683,127 (GRCm39) |
intron |
probably benign |
|
|
R4212:Usp44
|
UTSW |
10 |
93,682,632 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4755:Usp44
|
UTSW |
10 |
93,682,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4764:Usp44
|
UTSW |
10 |
93,681,933 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5095:Usp44
|
UTSW |
10 |
93,682,707 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5775:Usp44
|
UTSW |
10 |
93,681,840 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6029:Usp44
|
UTSW |
10 |
93,682,494 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6193:Usp44
|
UTSW |
10 |
93,683,010 (GRCm39) |
intron |
probably benign |
|
|
R6233:Usp44
|
UTSW |
10 |
93,686,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6338:Usp44
|
UTSW |
10 |
93,682,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6374:Usp44
|
UTSW |
10 |
93,692,172 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6556:Usp44
|
UTSW |
10 |
93,681,870 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6615:Usp44
|
UTSW |
10 |
93,682,351 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7099:Usp44
|
UTSW |
10 |
93,686,049 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7224:Usp44
|
UTSW |
10 |
93,681,855 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7361:Usp44
|
UTSW |
10 |
93,682,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7576:Usp44
|
UTSW |
10 |
93,682,290 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8014:Usp44
|
UTSW |
10 |
93,688,571 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8695:Usp44
|
UTSW |
10 |
93,682,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8919:Usp44
|
UTSW |
10 |
93,693,775 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8950:Usp44
|
UTSW |
10 |
93,682,129 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9144:Usp44
|
UTSW |
10 |
93,681,645 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9254:Usp44
|
UTSW |
10 |
93,688,635 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9379:Usp44
|
UTSW |
10 |
93,688,635 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9488:Usp44
|
UTSW |
10 |
93,682,851 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCATGAATTGCATATCCTGTTCCAAG -3'
(R):5'- CCTCAGAGAATGGCTGTACTCTAACCT -3'
Sequencing Primer
(F):5'- CACTTCCCAAAGGAGACTTATTGAG -3'
(R):5'- GGCTGTACTCTAACCTAGAAGATGC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation