Incidental Mutation 'R6556:Usp44'
| ID |
522181 |
| 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 # |
R6556 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
93667417-93693950 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93681870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 107
(Y107H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095333]
[ENSMUST00000216224]
|
| AlphaFold |
Q8C2S0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095333
AA Change: Y107H
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000092975
Gene: ENSMUSG00000020020
AA Change: Y107H
| 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
AA Change: Y107H
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atosb |
C |
T |
4: 43,033,896 (GRCm39) |
R460H |
probably damaging |
Het |
| Atp2a1 |
G |
T |
7: 126,049,434 (GRCm39) |
P536Q |
probably benign |
Het |
| Bnip5 |
T |
A |
17: 29,123,585 (GRCm39) |
D114V |
probably damaging |
Het |
| Cabyr |
T |
A |
18: 12,884,073 (GRCm39) |
S187T |
probably benign |
Het |
| Camkk1 |
A |
T |
11: 72,924,696 (GRCm39) |
N303I |
probably benign |
Het |
| Cdh13 |
C |
T |
8: 119,694,926 (GRCm39) |
P259S |
probably damaging |
Het |
| Csnk1g3 |
A |
G |
18: 54,063,354 (GRCm39) |
D255G |
possibly damaging |
Het |
| Dennd5b |
A |
C |
6: 148,915,749 (GRCm39) |
|
probably null |
Het |
| Dnajc14 |
A |
G |
10: 128,650,500 (GRCm39) |
D528G |
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,831,318 (GRCm39) |
F593S |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,899,077 (GRCm39) |
N4343S |
probably null |
Het |
| Erbb2 |
G |
A |
11: 98,326,908 (GRCm39) |
D1106N |
possibly damaging |
Het |
| Ermp1 |
T |
C |
19: 29,590,321 (GRCm39) |
M794V |
possibly damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,707,838 (GRCm39) |
|
probably null |
Het |
| Gm20730 |
C |
T |
6: 43,058,476 (GRCm39) |
C112Y |
probably damaging |
Het |
| Gtf2h1 |
T |
A |
7: 46,458,089 (GRCm39) |
C245S |
probably damaging |
Het |
| Hdhd5 |
T |
C |
6: 120,500,515 (GRCm39) |
H61R |
probably benign |
Het |
| Ighv1-71 |
A |
T |
12: 115,706,092 (GRCm39) |
V31E |
probably damaging |
Het |
| Igsf9b |
T |
C |
9: 27,240,851 (GRCm39) |
F688S |
probably damaging |
Het |
| Iqcd |
T |
C |
5: 120,740,443 (GRCm39) |
V258A |
probably damaging |
Het |
| Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
| Lpo |
G |
T |
11: 87,708,589 (GRCm39) |
Y136* |
probably null |
Het |
| Med30 |
A |
G |
15: 52,593,779 (GRCm39) |
|
probably benign |
Het |
| Mertk |
T |
A |
2: 128,618,341 (GRCm39) |
V524D |
probably benign |
Het |
| Ndufb11b |
A |
G |
15: 81,864,939 (GRCm39) |
D60G |
probably damaging |
Het |
| Or4c126 |
T |
A |
2: 89,824,517 (GRCm39) |
F260Y |
probably benign |
Het |
| Or4c52 |
T |
C |
2: 89,845,438 (GRCm39) |
Y55H |
probably damaging |
Het |
| Or5l13 |
T |
C |
2: 87,780,320 (GRCm39) |
I86V |
probably benign |
Het |
| Pde6b |
T |
A |
5: 108,569,367 (GRCm39) |
M358K |
possibly damaging |
Het |
| Prep |
GA |
G |
10: 45,034,410 (GRCm39) |
|
probably null |
Het |
| Prpf4b |
G |
A |
13: 35,080,015 (GRCm39) |
R793Q |
probably damaging |
Het |
| Rela |
T |
A |
19: 5,697,366 (GRCm39) |
N524K |
probably damaging |
Het |
| Relch |
T |
A |
1: 105,654,165 (GRCm39) |
F845I |
probably damaging |
Het |
| Rnaset2a |
T |
C |
17: 8,360,480 (GRCm39) |
D74G |
probably damaging |
Het |
| Semp2l2a |
G |
A |
8: 13,887,690 (GRCm39) |
Q134* |
probably null |
Het |
| Serinc2 |
T |
A |
4: 130,152,064 (GRCm39) |
I267F |
probably damaging |
Het |
| Sesn3 |
T |
C |
9: 14,232,549 (GRCm39) |
F274S |
possibly damaging |
Het |
| Spag1 |
T |
C |
15: 36,195,553 (GRCm39) |
Y249H |
probably damaging |
Het |
| Sstr1 |
A |
T |
12: 58,260,478 (GRCm39) |
D367V |
possibly damaging |
Het |
| Tasor |
T |
G |
14: 27,151,215 (GRCm39) |
Y64D |
probably benign |
Het |
| Tnnt1 |
T |
C |
7: 4,512,576 (GRCm39) |
E110G |
probably damaging |
Het |
| Tpm1 |
T |
A |
9: 66,935,451 (GRCm39) |
|
probably null |
Het |
| Unc93b1 |
T |
C |
19: 3,994,105 (GRCm39) |
V412A |
probably benign |
Het |
| Uox |
G |
C |
3: 146,330,403 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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'- AACACAACCGAGTCCATTTGG -3'
(R):5'- ACCAAGTTCGAAAGGCTTTCC -3'
Sequencing Primer
(F):5'- TCGCCTGTGGGAAGTACATC -3'
(R):5'- AAGTTCGAAAGGCTTTCCCCATG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation