Incidental Mutation 'R4320:Usp3'
| ID |
323779 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp3
|
| Ensembl Gene |
ENSMUSG00000032376 |
| Gene Name |
ubiquitin specific peptidase 3 |
| Synonyms |
|
| MMRRC Submission |
041661-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.369)
|
| Stock # |
R4320 (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 66437530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 258
(C258R)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000098613
AA Change: C264R
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000096213
Gene: ENSMUSG00000032376
AA Change: C264R
| 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: ENSMUST00000124694
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000127569
AA Change: C302R
PolyPhen 2
Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000122199
Gene: ENSMUSG00000032376
AA Change: C302R
| 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: ENSMUST00000154476
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174387
AA Change: C258R
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134472
Gene: ENSMUSG00000032376
AA Change: C258R
| 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 |
0.2712 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
96% (46/48) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
G |
A |
10: 69,740,076 (GRCm39) |
V826I |
possibly damaging |
Het |
| Arid4a |
T |
A |
12: 71,116,769 (GRCm39) |
I609N |
possibly damaging |
Het |
| Asb13 |
G |
T |
13: 3,695,012 (GRCm39) |
R160L |
possibly damaging |
Het |
| Brix1 |
A |
T |
15: 10,483,398 (GRCm39) |
M91K |
probably damaging |
Het |
| Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
| Cdh10 |
A |
G |
15: 18,985,251 (GRCm39) |
D305G |
probably benign |
Het |
| Daxx |
T |
C |
17: 34,130,393 (GRCm39) |
L136P |
probably damaging |
Het |
| Fmo1 |
A |
T |
1: 162,661,200 (GRCm39) |
L361Q |
probably damaging |
Het |
| Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
| Gm5114 |
T |
G |
7: 39,057,051 (GRCm39) |
Y856S |
probably damaging |
Het |
| Grk5 |
C |
T |
19: 61,080,383 (GRCm39) |
R576* |
probably null |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Htr1f |
T |
C |
16: 64,747,050 (GRCm39) |
I81V |
possibly damaging |
Het |
| Kprp |
G |
A |
3: 92,732,163 (GRCm39) |
R296W |
probably damaging |
Het |
| Mtf2 |
T |
A |
5: 108,234,891 (GRCm39) |
C3S |
probably damaging |
Het |
| Mtmr3 |
T |
C |
11: 4,437,947 (GRCm39) |
R836G |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,007,960 (GRCm39) |
N241D |
possibly damaging |
Het |
| Or12j2 |
T |
A |
7: 139,916,219 (GRCm39) |
I148N |
possibly damaging |
Het |
| Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
| Or7g25 |
A |
C |
9: 19,160,052 (GRCm39) |
I214M |
probably damaging |
Het |
| Or7g28 |
G |
T |
9: 19,272,254 (GRCm39) |
Y132* |
probably null |
Het |
| Orc1 |
G |
A |
4: 108,445,973 (GRCm39) |
M30I |
probably benign |
Het |
| Pax2 |
T |
A |
19: 44,823,838 (GRCm39) |
F366I |
probably damaging |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Plekha5 |
A |
G |
6: 140,489,543 (GRCm39) |
K316E |
possibly damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,564,502 (GRCm39) |
N8K |
probably damaging |
Het |
| Rnf125 |
G |
A |
18: 21,110,817 (GRCm39) |
R25K |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Septin1 |
G |
A |
7: 126,816,200 (GRCm39) |
P77S |
probably damaging |
Het |
| Sostdc1 |
C |
A |
12: 36,367,419 (GRCm39) |
S198R |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
| Spef2 |
A |
T |
15: 9,679,429 (GRCm39) |
I636K |
possibly damaging |
Het |
| Stat4 |
A |
G |
1: 52,113,866 (GRCm39) |
N192S |
probably benign |
Het |
| Thoc1 |
A |
G |
18: 9,960,493 (GRCm39) |
H66R |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,299,325 (GRCm39) |
E1101G |
possibly damaging |
Het |
| Trpa1 |
G |
T |
1: 14,944,676 (GRCm39) |
H1023N |
probably benign |
Het |
| Tsen15 |
A |
T |
1: 152,259,460 (GRCm39) |
D66E |
probably damaging |
Het |
| Tssk3 |
A |
G |
4: 129,382,994 (GRCm39) |
V226A |
possibly damaging |
Het |
| Ufl1 |
T |
A |
4: 25,278,601 (GRCm39) |
|
probably null |
Het |
| Vmn2r117 |
TC |
T |
17: 23,698,487 (GRCm39) |
|
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 |
|
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'- TGAGCATGGTGCCAACATGC -3'
(R):5'- GTTTAATGGACAGACAGAACATCCTC -3'
Sequencing Primer
(F):5'- CAGGCATACTCTGTGAGTTCCAG -3'
(R):5'- GACAGAACATCCTCACACTATTTTTG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation