Incidental Mutation 'R3957:Usp3'
| ID |
310768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp3
|
| Ensembl Gene |
ENSMUSG00000032376 |
| Gene Name |
ubiquitin specific peptidase 3 |
| Synonyms |
|
| MMRRC Submission |
040931-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.369)
|
| Stock # |
R3957 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
66421919-66500424 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66469873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 83
(T83A)
|
| 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 benign
Transcript: ENSMUST00000098613
AA Change: T83A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000096213
Gene: ENSMUSG00000032376
AA Change: T83A
| 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 benign
Transcript: ENSMUST00000127569
AA Change: T83A
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000122199
Gene: ENSMUSG00000032376
AA Change: T83A
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.5%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
G |
10: 29,100,805 (GRCm39) |
K393E |
possibly damaging |
Het |
| Acsm4 |
A |
T |
7: 119,302,588 (GRCm39) |
M238L |
possibly damaging |
Het |
| Adam2 |
G |
A |
14: 66,295,059 (GRCm39) |
S262L |
probably damaging |
Het |
| Atp13a5 |
T |
A |
16: 29,117,012 (GRCm39) |
I579L |
probably benign |
Het |
| Canx |
A |
G |
11: 50,199,210 (GRCm39) |
V153A |
probably damaging |
Het |
| Cdan1 |
A |
G |
2: 120,556,113 (GRCm39) |
Y718H |
probably damaging |
Het |
| Cdan1 |
G |
A |
2: 120,561,501 (GRCm39) |
|
probably benign |
Het |
| Cpsf3 |
A |
G |
12: 21,363,806 (GRCm39) |
D632G |
probably benign |
Het |
| Dach1 |
T |
C |
14: 98,077,545 (GRCm39) |
T561A |
probably damaging |
Het |
| Dennd5a |
A |
G |
7: 109,504,906 (GRCm39) |
M868T |
probably benign |
Het |
| Dhx29 |
C |
T |
13: 113,067,455 (GRCm39) |
A112V |
probably benign |
Het |
| Fanca |
G |
A |
8: 124,043,102 (GRCm39) |
R95C |
probably benign |
Het |
| Fat4 |
C |
A |
3: 39,036,495 (GRCm39) |
N3382K |
probably benign |
Het |
| Fkbp15 |
A |
C |
4: 62,252,489 (GRCm39) |
F290L |
probably benign |
Het |
| Fkbp8 |
T |
G |
8: 70,987,517 (GRCm39) |
S376A |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Igfn1 |
A |
G |
1: 135,894,918 (GRCm39) |
Y1883H |
possibly damaging |
Het |
| Ighv3-4 |
T |
A |
12: 114,217,300 (GRCm39) |
Q97L |
probably damaging |
Het |
| Igkv15-103 |
A |
T |
6: 68,414,903 (GRCm39) |
Y114F |
probably benign |
Het |
| Kera |
G |
A |
10: 97,448,707 (GRCm39) |
R309H |
probably benign |
Het |
| Kif1a |
T |
A |
1: 92,953,416 (GRCm39) |
H1256L |
probably damaging |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Lmx1b |
T |
C |
2: 33,459,106 (GRCm39) |
E149G |
probably damaging |
Het |
| Me2 |
A |
G |
18: 73,914,203 (GRCm39) |
F443L |
probably damaging |
Het |
| Med12l |
T |
A |
3: 58,980,589 (GRCm39) |
S307R |
probably damaging |
Het |
| Mettl25b |
T |
C |
3: 87,834,135 (GRCm39) |
K116R |
possibly damaging |
Het |
| Mocs2 |
T |
A |
13: 114,961,803 (GRCm39) |
|
probably null |
Het |
| Nek7 |
C |
A |
1: 138,462,127 (GRCm39) |
C79F |
probably damaging |
Het |
| Or14j6 |
A |
T |
17: 38,214,500 (GRCm39) |
H21L |
probably benign |
Het |
| Or51f1 |
A |
G |
7: 102,505,824 (GRCm39) |
C222R |
probably damaging |
Het |
| Or5al1 |
A |
G |
2: 85,990,282 (GRCm39) |
V144A |
probably benign |
Het |
| Or5d43 |
A |
G |
2: 88,105,348 (GRCm39) |
F15S |
probably damaging |
Het |
| Ovch2 |
G |
A |
7: 107,388,318 (GRCm39) |
L421F |
probably damaging |
Het |
| Pan2 |
C |
T |
10: 128,151,046 (GRCm39) |
R806C |
probably damaging |
Het |
| Plod3 |
A |
T |
5: 137,023,046 (GRCm39) |
H616L |
probably damaging |
Het |
| Plxnb3 |
T |
C |
X: 72,814,826 (GRCm39) |
V1789A |
probably benign |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Tbc1d9 |
C |
T |
8: 83,960,161 (GRCm39) |
T138I |
probably damaging |
Het |
| Tdrkh |
A |
G |
3: 94,335,556 (GRCm39) |
N383S |
probably damaging |
Het |
| Trim30d |
C |
T |
7: 104,121,728 (GRCm39) |
G339D |
probably damaging |
Het |
| Trub1 |
G |
A |
19: 57,473,798 (GRCm39) |
A239T |
possibly damaging |
Het |
| Tspan32 |
T |
A |
7: 142,560,735 (GRCm39) |
M61K |
probably damaging |
Het |
| Ttc6 |
T |
C |
12: 57,744,238 (GRCm39) |
V1290A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,799,593 (GRCm39) |
V429A |
possibly damaging |
Het |
| Unc13b |
A |
G |
4: 43,256,834 (GRCm39) |
Y3962C |
probably damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,660,358 (GRCm39) |
Y257N |
possibly damaging |
Het |
| Zmym6 |
T |
C |
4: 127,017,089 (GRCm39) |
S957P |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,654,395 (GRCm39) |
T722A |
probably 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 |
|
|
IGL03283:Usp3
|
APN |
9 |
66,469,831 (GRCm39) |
splice site |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTGAAATGCTGAGTTGTAAAC -3'
(R):5'- TTGTCCCTAATCAAGGCGTAAC -3'
Sequencing Primer
(F):5'- GCTGAGTTGTAAACACTAAATTCTTG -3'
(R):5'- CAAGGCGTAACTAAAATTTGACTG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation