Incidental Mutation 'R5388:Usp1'
| ID |
425397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp1
|
| Ensembl Gene |
ENSMUSG00000028560 |
| Gene Name |
ubiquitin specific peptidase 1 |
| Synonyms |
|
| MMRRC Submission |
042960-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.901)
|
| Stock # |
R5388 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
98812047-98823780 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98819294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 252
(D252G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088917
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030289]
[ENSMUST00000091358]
[ENSMUST00000125104]
[ENSMUST00000169053]
|
| AlphaFold |
Q8BJQ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030289
AA Change: D252G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000030289
Gene: ENSMUSG00000028560
AA Change: D252G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
80 |
616 |
9.2e-35 |
PFAM |
|
Pfam:UCH_1
|
415 |
618 |
1.3e-11 |
PFAM |
|
Pfam:UCH
|
723 |
781 |
3.9e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091358
AA Change: D252G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000088917
Gene: ENSMUSG00000028560
AA Change: D252G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
80 |
622 |
5e-39 |
PFAM |
|
Pfam:UCH_1
|
346 |
613 |
2.8e-11 |
PFAM |
|
low complexity region
|
765 |
779 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125104
|
| SMART Domains |
Protein: ENSMUSP00000135496
Gene: ENSMUSG00000028560
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
37 |
150 |
4.1e-14 |
PFAM |
|
Pfam:UCH_1
|
38 |
80 |
1.2e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169053
|
| Meta Mutation Damage Score |
0.1167 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (57/58) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the ubiquitin-specific peptidase family. The encoded protein acts as a catalytic subunit in a heterodimeric deubiquitinating enzyme complex that deubiquitinates Fanconi anemia, complementation group D2, and plays a role in homologous recombination-mediated DNA repair. Disruption of this gene is associated with a Fanconi anemia-like phenotype and genomic instability. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 3, 12, and 15. [provided by RefSeq, Aug 2014]
PHENOTYPE: Homozygous null mice have a high rate of postnatal lethality related to cyanosis. Male survivors are infertile while female survivors have reduced fertility. Both sexes have reduced number of gametes, are sensitive to ionizing radiation, and have decreased numbers of bone marrow cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
C |
7: 120,139,969 (GRCm39) |
|
probably null |
Het |
| Acap2 |
C |
A |
16: 30,928,543 (GRCm39) |
C475F |
probably damaging |
Het |
| Ace |
C |
A |
11: 105,879,284 (GRCm39) |
P603Q |
possibly damaging |
Het |
| Adamts20 |
C |
G |
15: 94,243,659 (GRCm39) |
V657L |
possibly damaging |
Het |
| Antxr2 |
A |
G |
5: 98,125,458 (GRCm39) |
|
probably null |
Het |
| Atp6v1b2 |
G |
A |
8: 69,554,089 (GRCm39) |
V89I |
probably benign |
Het |
| Cacna1e |
G |
A |
1: 154,353,542 (GRCm39) |
P676L |
probably damaging |
Het |
| Camsap3 |
A |
T |
8: 3,654,276 (GRCm39) |
I649F |
probably damaging |
Het |
| Camta1 |
G |
T |
4: 151,159,695 (GRCm39) |
S490R |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,809,719 (GRCm39) |
I2221T |
probably damaging |
Het |
| Cfd |
A |
T |
10: 79,727,959 (GRCm39) |
D164V |
probably damaging |
Het |
| Cfdp1 |
T |
C |
8: 112,495,384 (GRCm39) |
D278G |
probably damaging |
Het |
| Cntn6 |
A |
T |
6: 104,809,523 (GRCm39) |
L519F |
probably damaging |
Het |
| Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
| Cybrd1 |
T |
C |
2: 70,967,989 (GRCm39) |
|
probably null |
Het |
| Cyp2e1 |
T |
C |
7: 140,343,906 (GRCm39) |
L48P |
probably damaging |
Het |
| Eddm13 |
T |
C |
7: 6,269,346 (GRCm39) |
|
probably null |
Het |
| Ep400 |
G |
A |
5: 110,849,594 (GRCm39) |
T1409I |
unknown |
Het |
| Exosc7 |
A |
T |
9: 122,947,972 (GRCm39) |
D47V |
probably damaging |
Het |
| Fgr |
T |
C |
4: 132,722,342 (GRCm39) |
F204L |
probably damaging |
Het |
| Gm10100 |
G |
A |
10: 77,562,560 (GRCm39) |
V81M |
probably benign |
Het |
| Gm12367 |
T |
C |
4: 35,235,690 (GRCm39) |
|
noncoding transcript |
Het |
| Grxcr1 |
C |
A |
5: 68,323,538 (GRCm39) |
T272K |
probably damaging |
Het |
| Kcna5 |
C |
T |
6: 126,511,859 (GRCm39) |
D90N |
probably benign |
Het |
| Kdm5b |
T |
A |
1: 134,536,635 (GRCm39) |
Y618* |
probably null |
Het |
| Lama5 |
T |
A |
2: 179,832,539 (GRCm39) |
H1670L |
possibly damaging |
Het |
| Mtus2 |
C |
T |
5: 148,243,518 (GRCm39) |
Q113* |
probably null |
Het |
| Ncam1 |
A |
C |
9: 49,456,054 (GRCm39) |
D521E |
probably benign |
Het |
| Nkapl |
T |
C |
13: 21,651,740 (GRCm39) |
H291R |
possibly damaging |
Het |
| Nlrp1b |
T |
G |
11: 71,062,967 (GRCm39) |
N695H |
probably damaging |
Het |
| Npc1l1 |
T |
A |
11: 6,164,733 (GRCm39) |
Q1105H |
probably damaging |
Het |
| Paxip1 |
C |
G |
5: 27,986,453 (GRCm39) |
|
probably benign |
Het |
| Pign |
A |
T |
1: 105,583,695 (GRCm39) |
W136R |
probably damaging |
Het |
| Pira1 |
T |
C |
7: 3,741,856 (GRCm39) |
T175A |
possibly damaging |
Het |
| Pkn3 |
T |
A |
2: 29,971,086 (GRCm39) |
S222T |
probably damaging |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Ppfibp1 |
T |
A |
6: 146,898,338 (GRCm39) |
I98N |
probably damaging |
Het |
| Ppfibp1 |
T |
G |
6: 146,917,828 (GRCm39) |
S484A |
probably damaging |
Het |
| Ppp1r7 |
T |
C |
1: 93,280,312 (GRCm39) |
F127L |
probably damaging |
Het |
| Pramel1 |
T |
C |
4: 143,123,954 (GRCm39) |
Y210H |
probably benign |
Het |
| Rad21l |
C |
T |
2: 151,495,403 (GRCm39) |
V427I |
probably benign |
Het |
| Ripply1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
X: 138,680,599 (GRCm39) |
|
probably benign |
Het |
| Rnf225 |
A |
G |
7: 12,661,932 (GRCm39) |
D37G |
probably damaging |
Het |
| Smpd2 |
A |
G |
10: 41,363,967 (GRCm39) |
|
probably null |
Het |
| Spata31h1 |
T |
C |
10: 82,119,561 (GRCm39) |
Q4483R |
probably damaging |
Het |
| Tmem38b |
C |
T |
4: 53,859,945 (GRCm39) |
R242W |
probably benign |
Het |
| Topaz1 |
A |
T |
9: 122,603,158 (GRCm39) |
K1035I |
possibly damaging |
Het |
| Trhr |
T |
C |
15: 44,060,873 (GRCm39) |
I131T |
possibly damaging |
Het |
| Usp14 |
C |
T |
18: 10,018,023 (GRCm39) |
E90K |
probably damaging |
Het |
| Yme1l1 |
T |
G |
2: 23,052,569 (GRCm39) |
D74E |
probably benign |
Het |
| Ythdc2 |
T |
A |
18: 44,990,092 (GRCm39) |
L732Q |
possibly damaging |
Het |
| Zbbx |
G |
T |
3: 74,990,977 (GRCm39) |
A289D |
probably damaging |
Het |
| Zfhx3 |
G |
A |
8: 109,673,446 (GRCm39) |
V1499I |
possibly damaging |
Het |
| Zfp622 |
T |
C |
15: 25,996,285 (GRCm39) |
V184A |
possibly damaging |
Het |
|
| Other mutations in Usp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00715:Usp1
|
APN |
4 |
98,822,818 (GRCm39) |
splice site |
probably null |
|
|
IGL02692:Usp1
|
APN |
4 |
98,817,197 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1782:Usp1
|
UTSW |
4 |
98,822,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1991:Usp1
|
UTSW |
4 |
98,822,531 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1992:Usp1
|
UTSW |
4 |
98,822,531 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2273:Usp1
|
UTSW |
4 |
98,818,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2274:Usp1
|
UTSW |
4 |
98,818,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2275:Usp1
|
UTSW |
4 |
98,818,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3750:Usp1
|
UTSW |
4 |
98,822,357 (GRCm39) |
splice site |
probably null |
|
|
R3886:Usp1
|
UTSW |
4 |
98,817,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4014:Usp1
|
UTSW |
4 |
98,822,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5141:Usp1
|
UTSW |
4 |
98,822,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5304:Usp1
|
UTSW |
4 |
98,822,855 (GRCm39) |
missense |
probably benign |
|
|
R5709:Usp1
|
UTSW |
4 |
98,819,360 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6035:Usp1
|
UTSW |
4 |
98,818,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:Usp1
|
UTSW |
4 |
98,818,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6592:Usp1
|
UTSW |
4 |
98,814,756 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6956:Usp1
|
UTSW |
4 |
98,819,243 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7117:Usp1
|
UTSW |
4 |
98,817,127 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7396:Usp1
|
UTSW |
4 |
98,814,688 (GRCm39) |
intron |
probably benign |
|
|
R7516:Usp1
|
UTSW |
4 |
98,822,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7590:Usp1
|
UTSW |
4 |
98,822,489 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7828:Usp1
|
UTSW |
4 |
98,820,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8050:Usp1
|
UTSW |
4 |
98,817,150 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8085:Usp1
|
UTSW |
4 |
98,816,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8298:Usp1
|
UTSW |
4 |
98,819,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8736:Usp1
|
UTSW |
4 |
98,821,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8801:Usp1
|
UTSW |
4 |
98,822,848 (GRCm39) |
missense |
probably benign |
|
|
R8844:Usp1
|
UTSW |
4 |
98,823,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8887:Usp1
|
UTSW |
4 |
98,819,185 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8899:Usp1
|
UTSW |
4 |
98,819,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9063:Usp1
|
UTSW |
4 |
98,819,389 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9275:Usp1
|
UTSW |
4 |
98,819,578 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9738:Usp1
|
UTSW |
4 |
98,819,672 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAACCCTATGTATGAAGGATTTC -3'
(R):5'- ACTTGGGGATGATCTTAGGAGC -3'
Sequencing Primer
(F):5'- GAAGGATTTCTACAGCATGATGC -3'
(R):5'- ATGATCTTAGGAGCAGCCTCTAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation