Incidental Mutation 'R4032:Usp44'
| ID |
313541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp44
|
| Ensembl Gene |
ENSMUSG00000020020 |
| Gene Name |
ubiquitin specific peptidase 44 |
| Synonyms |
E430004F17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4032 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
93667417-93693950 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 93683127 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: I479V
|
| SMART Domains |
Protein: ENSMUSP00000092975
Gene: ENSMUSG00000020020
AA Change: I479V
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Arhgap17 |
G |
T |
7: 122,879,289 (GRCm39) |
|
probably benign |
Het |
| Atp13a4 |
T |
A |
16: 29,237,389 (GRCm39) |
M846L |
probably damaging |
Het |
| Capn5 |
G |
T |
7: 97,778,453 (GRCm39) |
Q389K |
probably damaging |
Het |
| Cdkl3 |
T |
A |
11: 51,902,118 (GRCm39) |
I109N |
probably damaging |
Het |
| Cry2 |
T |
C |
2: 92,244,172 (GRCm39) |
I334V |
probably benign |
Het |
| Cs |
T |
C |
10: 128,196,913 (GRCm39) |
L436P |
probably damaging |
Het |
| D17H6S53E |
T |
C |
17: 35,346,355 (GRCm39) |
S89P |
probably benign |
Het |
| Dync1h1 |
C |
T |
12: 110,584,483 (GRCm39) |
Q629* |
probably null |
Het |
| H4c12 |
T |
C |
13: 21,934,588 (GRCm39) |
I30V |
possibly damaging |
Het |
| Itpka |
C |
T |
2: 119,573,082 (GRCm39) |
P75S |
probably benign |
Het |
| Lyst |
C |
T |
13: 13,791,250 (GRCm39) |
H38Y |
probably damaging |
Het |
| Mansc4 |
T |
C |
6: 146,976,678 (GRCm39) |
K313E |
probably benign |
Het |
| Megf6 |
T |
A |
4: 154,261,550 (GRCm39) |
C58* |
probably null |
Het |
| Mtor |
T |
C |
4: 148,621,209 (GRCm39) |
V1869A |
probably benign |
Het |
| Mybpc1 |
T |
C |
10: 88,365,426 (GRCm39) |
D899G |
probably benign |
Het |
| Nek10 |
C |
A |
14: 14,853,877 (GRCm38) |
|
probably null |
Het |
| Nfkb1 |
T |
C |
3: 135,300,110 (GRCm39) |
S657G |
possibly damaging |
Het |
| Or10d5j |
T |
C |
9: 39,867,629 (GRCm39) |
T213A |
probably benign |
Het |
| Or2a25 |
A |
T |
6: 42,888,559 (GRCm39) |
Y34F |
probably benign |
Het |
| Or4m1 |
T |
A |
14: 50,557,767 (GRCm39) |
D175V |
possibly damaging |
Het |
| Or4n5 |
G |
T |
14: 50,132,433 (GRCm39) |
H275Q |
probably benign |
Het |
| Or51f23 |
A |
G |
7: 102,453,396 (GRCm39) |
K237R |
probably benign |
Het |
| Pabir1 |
C |
T |
19: 24,454,106 (GRCm39) |
M205I |
probably benign |
Het |
| Pde1b |
A |
G |
15: 103,429,753 (GRCm39) |
D82G |
probably damaging |
Het |
| Pdzrn4 |
C |
T |
15: 92,667,414 (GRCm39) |
T522M |
probably damaging |
Het |
| Ptpro |
C |
A |
6: 137,438,740 (GRCm39) |
N373K |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,720,386 (GRCm39) |
Y1478C |
probably damaging |
Het |
| Sdc2 |
A |
T |
15: 33,017,323 (GRCm39) |
I46F |
probably damaging |
Het |
| Sergef |
C |
A |
7: 46,092,726 (GRCm39) |
E428* |
probably null |
Het |
| Stk36 |
A |
G |
1: 74,665,207 (GRCm39) |
S651G |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,025,081 (GRCm39) |
V559A |
|
Het |
| Ugt8a |
C |
A |
3: 125,667,807 (GRCm39) |
D345Y |
probably damaging |
Het |
| Vps13a |
A |
T |
19: 16,594,263 (GRCm39) |
L3156Q |
probably damaging |
Het |
| Zfp655 |
A |
G |
5: 145,180,858 (GRCm39) |
T239A |
possibly damaging |
Het |
| Zfp87 |
T |
C |
13: 74,520,449 (GRCm39) |
T210A |
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 |
|
R0789:Usp44
|
UTSW |
10 |
93,683,082 (GRCm39) |
intron |
probably benign |
|
|
R1521:Usp44
|
UTSW |
10 |
93,683,048 (GRCm39) |
nonsense |
probably null |
|
|
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'- TTCACGGACAATTTCTTAGTCAGG -3'
(R):5'- GTATAGCAACTATGTCCTCCAGG -3'
Sequencing Primer
(F):5'- CAGGTATGGATGTCTTGCCAC -3'
(R):5'- TTTCAACCAGATATGGGGGCAC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation