Incidental Mutation 'R4742:Usp3'
| ID |
358140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp3
|
| Ensembl Gene |
ENSMUSG00000032376 |
| Gene Name |
ubiquitin specific peptidase 3 |
| Synonyms |
|
| MMRRC Submission |
041966-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.369)
|
| Stock # |
R4742 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
66421919-66500424 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66427959 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 339
(Y339H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134472
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098613]
[ENSMUST00000127569]
[ENSMUST00000139547]
[ENSMUST00000174387]
|
| AlphaFold |
Q91W36 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000034940
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098613
AA Change: Y345H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096213
Gene: ENSMUSG00000032376
AA Change: Y345H
| 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 |
probably damaging
Transcript: ENSMUST00000127569
AA Change: Y383H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122199
Gene: ENSMUSG00000032376
AA Change: Y383H
| 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 |
noncoding transcript
Transcript: ENSMUST00000132255
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150840
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174387
AA Change: Y339H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134472
Gene: ENSMUSG00000032376
AA Change: Y339H
| 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 |
|
| Meta Mutation Damage Score |
0.5275 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
94% (51/54) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 8030423J24Rik |
G |
T |
13: 71,031,644 (GRCm39) |
R17L |
unknown |
Het |
| Acan |
T |
C |
7: 78,750,517 (GRCm39) |
F1763L |
probably benign |
Het |
| Adgrb1 |
T |
A |
15: 74,401,328 (GRCm39) |
L108* |
probably null |
Het |
| Anapc2 |
T |
A |
2: 25,163,555 (GRCm39) |
|
probably null |
Het |
| Apbb1ip |
A |
G |
2: 22,716,928 (GRCm39) |
K177E |
unknown |
Het |
| Azgp1 |
T |
A |
5: 137,987,888 (GRCm39) |
Y223* |
probably null |
Het |
| Cfap44 |
T |
G |
16: 44,269,615 (GRCm39) |
|
probably null |
Het |
| Chfr |
C |
T |
5: 110,291,464 (GRCm39) |
T94I |
probably benign |
Het |
| Chrna10 |
T |
G |
7: 101,762,344 (GRCm39) |
Q282P |
probably damaging |
Het |
| Col9a3 |
G |
T |
2: 180,245,180 (GRCm39) |
G130W |
unknown |
Het |
| Dcaf1 |
A |
G |
9: 106,735,754 (GRCm39) |
T901A |
probably benign |
Het |
| Dock2 |
T |
G |
11: 34,244,170 (GRCm39) |
|
probably null |
Het |
| Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
| Fdxacb1 |
A |
G |
9: 50,679,968 (GRCm39) |
|
probably benign |
Het |
| Fhip1b |
A |
G |
7: 105,033,518 (GRCm39) |
V566A |
probably damaging |
Het |
| Il31ra |
G |
T |
13: 112,660,501 (GRCm39) |
S615* |
probably null |
Het |
| Itgam |
C |
T |
7: 127,712,245 (GRCm39) |
S827F |
probably damaging |
Het |
| Mapkbp1 |
T |
A |
2: 119,847,299 (GRCm39) |
V512E |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
| Nab2 |
T |
C |
10: 127,498,696 (GRCm39) |
T458A |
probably benign |
Het |
| Nadsyn1 |
A |
G |
7: 143,352,367 (GRCm39) |
|
probably benign |
Het |
| Nek10 |
A |
G |
14: 14,861,624 (GRCm38) |
D560G |
probably null |
Het |
| Or2ag13 |
A |
T |
7: 106,472,635 (GRCm39) |
N272K |
probably damaging |
Het |
| Or2ak6 |
A |
G |
11: 58,592,685 (GRCm39) |
R53G |
probably benign |
Het |
| Or8b46 |
T |
C |
9: 38,450,952 (GRCm39) |
S254P |
probably damaging |
Het |
| Pou1f1 |
C |
A |
16: 65,320,367 (GRCm39) |
P19T |
probably benign |
Het |
| Prdm9 |
A |
T |
17: 15,773,783 (GRCm39) |
D329E |
probably damaging |
Het |
| Prkn |
T |
A |
17: 11,456,591 (GRCm39) |
|
probably null |
Het |
| Ptprm |
A |
C |
17: 67,051,746 (GRCm39) |
Y962* |
probably null |
Het |
| Rad9a |
G |
A |
19: 4,250,560 (GRCm39) |
R85C |
probably damaging |
Het |
| Rhox2c |
A |
C |
X: 36,635,351 (GRCm39) |
Q4H |
probably benign |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Rtkn2 |
A |
G |
10: 67,839,144 (GRCm39) |
T154A |
possibly damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,955,898 (GRCm39) |
D958G |
probably benign |
Het |
| Spata31d1b |
C |
A |
13: 59,864,426 (GRCm39) |
H525N |
probably damaging |
Het |
| Tacc2 |
A |
G |
7: 130,227,697 (GRCm39) |
R1461G |
probably benign |
Het |
| Tas2r105 |
G |
A |
6: 131,663,814 (GRCm39) |
H205Y |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,446,691 (GRCm39) |
N809D |
probably damaging |
Het |
| Thoc2l |
A |
T |
5: 104,666,723 (GRCm39) |
N415I |
probably benign |
Het |
| Tns1 |
A |
G |
1: 74,163,449 (GRCm39) |
|
probably null |
Het |
| Top1 |
A |
G |
2: 160,545,490 (GRCm39) |
|
probably null |
Het |
| Traf3ip2 |
C |
T |
10: 39,515,256 (GRCm39) |
P345S |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Txndc9 |
T |
C |
1: 38,026,765 (GRCm39) |
D135G |
possibly damaging |
Het |
| Vmn1r5 |
A |
T |
6: 56,963,236 (GRCm39) |
K304* |
probably null |
Het |
| Vmn2r92 |
A |
G |
17: 18,387,119 (GRCm39) |
T153A |
probably benign |
Het |
| Xkr5 |
A |
T |
8: 18,998,746 (GRCm39) |
*55K |
probably null |
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 |
|
|
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 |
|
|
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'- GATTCTCTTCTGATGACACCGC -3'
(R):5'- GCTCTGCCTTATCTAGGGAAC -3'
Sequencing Primer
(F):5'- GATGACACCGCTCTCTTCCTG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation