Incidental Mutation 'R6949:Usp3'
| ID |
543247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp3
|
| Ensembl Gene |
ENSMUSG00000032376 |
| Gene Name |
ubiquitin specific peptidase 3 |
| Synonyms |
|
| MMRRC Submission |
045061-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.336)
|
| Stock # |
R6949 (G1)
|
| Quality Score |
192.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
66421919-66500424 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 66427972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 334
(D334E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134472
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098613]
[ENSMUST00000127569]
[ENSMUST00000139547]
[ENSMUST00000174387]
|
| AlphaFold |
Q91W36 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098613
AA Change: D340E
PolyPhen 2
Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000096213
Gene: ENSMUSG00000032376
AA Change: D340E
| 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 benign
Transcript: ENSMUST00000127569
AA Change: D378E
PolyPhen 2
Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000122199
Gene: ENSMUSG00000032376
AA Change: D378E
| 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 |
probably benign
Transcript: ENSMUST00000174387
AA Change: D334E
PolyPhen 2
Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000134472
Gene: ENSMUSG00000032376
AA Change: D334E
| 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: 100.0%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 95.1%
|
| Validation Efficiency |
100% (45/45) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
G |
T |
3: 126,804,533 (GRCm39) |
D679E |
probably benign |
Het |
| Catsper4 |
A |
T |
4: 133,953,058 (GRCm39) |
Y96N |
probably benign |
Het |
| Cnksr3 |
T |
C |
10: 7,110,757 (GRCm39) |
I35V |
probably benign |
Het |
| Col16a1 |
A |
G |
4: 129,953,116 (GRCm39) |
E424G |
probably damaging |
Het |
| Ctsc |
G |
T |
7: 87,930,666 (GRCm39) |
G82W |
probably damaging |
Het |
| Cxcr4 |
T |
C |
1: 128,517,352 (GRCm39) |
D101G |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,884,138 (GRCm39) |
N635K |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,382,913 (GRCm39) |
M282T |
probably damaging |
Het |
| Dpysl4 |
G |
A |
7: 138,671,915 (GRCm39) |
E172K |
probably damaging |
Het |
| Efcab3 |
A |
C |
11: 104,799,896 (GRCm39) |
T2931P |
probably damaging |
Het |
| Eif2ak3 |
T |
C |
6: 70,855,829 (GRCm39) |
I211T |
probably damaging |
Het |
| Fbxw22 |
A |
T |
9: 109,211,144 (GRCm39) |
W386R |
probably benign |
Het |
| Garin1b |
T |
A |
6: 29,323,905 (GRCm39) |
I210N |
probably damaging |
Het |
| Grm7 |
A |
G |
6: 110,623,265 (GRCm39) |
K146R |
probably benign |
Het |
| Grm7 |
C |
A |
6: 111,472,690 (GRCm39) |
P843Q |
probably damaging |
Het |
| Gtf2e2 |
A |
G |
8: 34,248,726 (GRCm39) |
D171G |
probably damaging |
Het |
| Hyal5 |
T |
C |
6: 24,876,303 (GRCm39) |
S59P |
probably benign |
Het |
| Il7r |
T |
A |
15: 9,508,090 (GRCm39) |
T411S |
probably damaging |
Het |
| Kcp |
T |
A |
6: 29,484,611 (GRCm39) |
|
probably null |
Het |
| Krcc1 |
T |
C |
6: 71,261,135 (GRCm39) |
Y56H |
probably benign |
Het |
| Lmo2 |
T |
A |
2: 103,801,018 (GRCm39) |
M1K |
probably null |
Het |
| Lrit3 |
G |
A |
3: 129,582,934 (GRCm39) |
T351I |
probably damaging |
Het |
| Mcu |
T |
G |
10: 59,292,566 (GRCm39) |
T38P |
possibly damaging |
Het |
| Mylk |
T |
A |
16: 34,820,688 (GRCm39) |
I89N |
probably damaging |
Het |
| Ncoa2 |
A |
T |
1: 13,226,725 (GRCm39) |
C996S |
possibly damaging |
Het |
| Npr2 |
A |
G |
4: 43,640,597 (GRCm39) |
E350G |
probably damaging |
Het |
| Or5an1b |
T |
C |
19: 12,299,792 (GRCm39) |
Y133C |
probably damaging |
Het |
| Pald1 |
T |
C |
10: 61,156,996 (GRCm39) |
E818G |
probably benign |
Het |
| Phf19 |
G |
T |
2: 34,794,143 (GRCm39) |
Q210K |
probably damaging |
Het |
| Pomgnt1 |
G |
A |
4: 116,011,351 (GRCm39) |
V250M |
probably damaging |
Het |
| Ppm1l |
T |
A |
3: 69,456,736 (GRCm39) |
C218S |
possibly damaging |
Het |
| Prkdc |
G |
A |
16: 15,617,853 (GRCm39) |
R3228H |
probably benign |
Het |
| Pros1 |
A |
T |
16: 62,744,938 (GRCm39) |
T518S |
probably benign |
Het |
| Rdh8 |
T |
A |
9: 20,734,003 (GRCm39) |
V63D |
probably benign |
Het |
| Rexo1 |
A |
G |
10: 80,386,470 (GRCm39) |
V196A |
possibly damaging |
Het |
| Scgb2b20 |
A |
T |
7: 33,065,724 (GRCm39) |
M1K |
probably null |
Het |
| Scn11a |
A |
G |
9: 119,594,580 (GRCm39) |
V1271A |
probably benign |
Het |
| Serac1 |
C |
A |
17: 6,102,090 (GRCm39) |
D395Y |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,012,771 (GRCm39) |
D2655G |
probably benign |
Het |
| Tm4sf19 |
T |
C |
16: 32,224,676 (GRCm39) |
V8A |
probably benign |
Het |
| Uty |
C |
T |
Y: 1,240,000 (GRCm39) |
|
probably null |
Het |
| Vmn2r7 |
T |
C |
3: 64,598,542 (GRCm39) |
N672D |
probably damaging |
Het |
| Vmn2r96 |
T |
A |
17: 18,818,100 (GRCm39) |
L751H |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,254,616 (GRCm39) |
S300G |
probably damaging |
Het |
| Zp3r |
G |
T |
1: 130,505,632 (GRCm39) |
S508R |
probably benign |
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 |
|
|
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 |
|
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'- TGCCTTATCTAGGGAACAAAGGAC -3'
Sequencing Primer
(F):5'- GATGACACCGCTCTCTTCCTG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation