Incidental Mutation 'IGL03283:Usp3'
| ID |
415650 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Usp3
|
| Ensembl Gene |
ENSMUSG00000032376 |
| Gene Name |
ubiquitin specific peptidase 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.369)
|
| Stock # |
IGL03283
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
66421919-66500424 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 66469831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098613]
[ENSMUST00000127569]
[ENSMUST00000139547]
[ENSMUST00000174387]
|
| AlphaFold |
Q91W36 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000034940
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000098613
|
| SMART Domains |
Protein: ENSMUSP00000096213
Gene: ENSMUSG00000032376
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-UBP
|
29 |
107 |
6.6e-23 |
PFAM |
|
low complexity region
|
135 |
150 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
158 |
188 |
1.1e-8 |
PFAM |
|
Pfam:UCH
|
178 |
470 |
4.2e-54 |
PFAM |
|
Pfam:UCH_1
|
193 |
452 |
3.4e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124519
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000127569
|
| SMART Domains |
Protein: ENSMUSP00000122199
Gene: ENSMUSG00000032376
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-UBP
|
29 |
107 |
1.2e-22 |
PFAM |
|
low complexity region
|
135 |
150 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
158 |
508 |
2.5e-61 |
PFAM |
|
Pfam:UCH_1
|
206 |
490 |
2e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139952
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174387
|
| SMART Domains |
Protein: ENSMUSP00000134472
Gene: ENSMUSG00000032376
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-UBP
|
29 |
142 |
1.6e-7 |
PFAM |
|
Pfam:UCH
|
114 |
464 |
9.9e-69 |
PFAM |
|
Pfam:UCH_1
|
115 |
446 |
2e-26 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a chromatin-associated histone 2A and 2B deubiquitinating enzyme that negatively regulates the DNA damage response. Mice deficient for this enzyme have reduced hematopoietic stem cell reserves, demonstrating a requirement in hematopoietic stem cell homeostasis. In addition, knock down of protein levels results in spontaneous tumor development and shortened lifespan, consistent with a function in preserving chromosomal integrity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bicdl2 |
A |
G |
17: 23,886,155 (GRCm39) |
E361G |
probably damaging |
Het |
| Cd163 |
A |
G |
6: 124,286,158 (GRCm39) |
D236G |
possibly damaging |
Het |
| Cep76 |
A |
T |
18: 67,773,139 (GRCm39) |
I53N |
possibly damaging |
Het |
| Cfap43 |
A |
G |
19: 47,779,851 (GRCm39) |
|
probably benign |
Het |
| Champ1 |
T |
C |
8: 13,928,786 (GRCm39) |
S315P |
probably benign |
Het |
| Ctdsp2 |
A |
G |
10: 126,832,266 (GRCm39) |
T91A |
probably benign |
Het |
| Cyp4a32 |
G |
T |
4: 115,468,280 (GRCm39) |
K283N |
possibly damaging |
Het |
| Dgki |
A |
G |
6: 36,914,246 (GRCm39) |
|
probably benign |
Het |
| Fads2b |
A |
C |
2: 85,320,751 (GRCm39) |
F351V |
probably damaging |
Het |
| Gabrr2 |
A |
G |
4: 33,082,364 (GRCm39) |
|
probably benign |
Het |
| Garin4 |
C |
T |
1: 190,895,029 (GRCm39) |
R538H |
probably benign |
Het |
| Gm5414 |
G |
T |
15: 101,535,522 (GRCm39) |
Q188K |
probably damaging |
Het |
| Grik2 |
A |
T |
10: 49,454,365 (GRCm39) |
M50K |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,367,518 (GRCm39) |
M2980V |
probably benign |
Het |
| Pafah2 |
C |
T |
4: 134,145,408 (GRCm39) |
T264M |
probably damaging |
Het |
| Tacc2 |
A |
G |
7: 130,343,996 (GRCm39) |
M2552V |
possibly damaging |
Het |
|
| Other mutations in Usp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01636:Usp3
|
APN |
9 |
66,469,834 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02951:Usp3
|
APN |
9 |
66,449,832 (GRCm39) |
nonsense |
probably null |
|
|
R0148:Usp3
|
UTSW |
9 |
66,447,449 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0152:Usp3
|
UTSW |
9 |
66,447,432 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0184:Usp3
|
UTSW |
9 |
66,469,863 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0628:Usp3
|
UTSW |
9 |
66,425,726 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1036:Usp3
|
UTSW |
9 |
66,437,513 (GRCm39) |
splice site |
probably benign |
|
|
R2251:Usp3
|
UTSW |
9 |
66,469,860 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2437:Usp3
|
UTSW |
9 |
66,453,024 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3957:Usp3
|
UTSW |
9 |
66,469,873 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4320:Usp3
|
UTSW |
9 |
66,437,530 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4439:Usp3
|
UTSW |
9 |
66,425,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4562:Usp3
|
UTSW |
9 |
66,428,047 (GRCm39) |
intron |
probably benign |
|
|
R4659:Usp3
|
UTSW |
9 |
66,434,352 (GRCm39) |
splice site |
probably null |
|
|
R4742:Usp3
|
UTSW |
9 |
66,427,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5134:Usp3
|
UTSW |
9 |
66,449,814 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5242:Usp3
|
UTSW |
9 |
66,434,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5556:Usp3
|
UTSW |
9 |
66,451,303 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6949:Usp3
|
UTSW |
9 |
66,427,972 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7440:Usp3
|
UTSW |
9 |
66,437,537 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7452:Usp3
|
UTSW |
9 |
66,474,180 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7547:Usp3
|
UTSW |
9 |
66,449,906 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9250:Usp3
|
UTSW |
9 |
66,449,793 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation