Incidental Mutation 'R8883:Usp45'
ID |
677094 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp45
|
Ensembl Gene |
ENSMUSG00000040455 |
Gene Name |
ubiquitin specific petidase 45 |
Synonyms |
4930550B20Rik, Gcap7, 3110003C05Rik |
MMRRC Submission |
068689-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8883 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
21767161-21837872 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 21825006 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 586
(G586D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048324
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040429]
[ENSMUST00000065111]
[ENSMUST00000108232]
|
AlphaFold |
Q8K387 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040429
AA Change: G586D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000048324 Gene: ENSMUSG00000040455 AA Change: G586D
Domain | Start | End | E-Value | Type |
Pfam:zf-UBP
|
60 |
139 |
2e-19 |
PFAM |
Pfam:UCH
|
190 |
761 |
2.8e-50 |
PFAM |
Pfam:UCH_1
|
533 |
743 |
3.9e-10 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065111
AA Change: G634D
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000067109 Gene: ENSMUSG00000040455 AA Change: G634D
Domain | Start | End | E-Value | Type |
Pfam:zf-UBP
|
60 |
139 |
4.1e-19 |
PFAM |
Pfam:UCH
|
190 |
809 |
2.1e-45 |
PFAM |
Pfam:UCH_1
|
581 |
790 |
9.6e-10 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108232
AA Change: G634D
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000103867 Gene: ENSMUSG00000040455 AA Change: G634D
Domain | Start | End | E-Value | Type |
Pfam:zf-UBP
|
60 |
139 |
2.2e-19 |
PFAM |
Pfam:UCH
|
190 |
809 |
4.6e-50 |
PFAM |
Pfam:UCH_1
|
582 |
791 |
4.5e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137293
|
SMART Domains |
Protein: ENSMUSP00000125982 Gene: ENSMUSG00000040455
Domain | Start | End | E-Value | Type |
Pfam:zf-UBP
|
27 |
106 |
1.6e-20 |
PFAM |
Pfam:UCH
|
157 |
205 |
3.3e-8 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (53/53) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a deubiquitylase that binds ERCC1, the catalytic subunit of the XPF-ERCC1 DNA repair endonuclease. This endonuclease is a critical regulator of DNA repair processes, and the deubiquitylase activity of the encoded protein is important for maintaining the DNA repair ability of XPF-ERCC1. [provided by RefSeq, Sep 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,283,168 (GRCm39) |
S3197P |
probably benign |
Het |
Arih2 |
A |
G |
9: 108,486,992 (GRCm39) |
S315P |
probably damaging |
Het |
Atp1b3 |
A |
T |
9: 96,246,122 (GRCm39) |
L29Q |
probably damaging |
Het |
Bsn |
G |
A |
9: 107,990,227 (GRCm39) |
P1842S |
probably damaging |
Het |
Ccnb1ip1 |
G |
C |
14: 51,027,359 (GRCm39) |
P248A |
probably benign |
Het |
Cep76 |
T |
C |
18: 67,766,540 (GRCm39) |
Q262R |
probably benign |
Het |
Cox10 |
T |
C |
11: 63,884,775 (GRCm39) |
E210G |
probably damaging |
Het |
Dcaf1 |
T |
G |
9: 106,724,839 (GRCm39) |
|
probably benign |
Het |
Dgki |
A |
T |
6: 36,993,608 (GRCm39) |
D584E |
probably damaging |
Het |
Evpl |
T |
C |
11: 116,121,243 (GRCm39) |
E428G |
probably damaging |
Het |
Fbh1 |
A |
G |
2: 11,753,922 (GRCm39) |
F807L |
probably benign |
Het |
Fbxo11 |
A |
G |
17: 88,305,044 (GRCm39) |
V533A |
|
Het |
Fermt3 |
G |
T |
19: 6,980,600 (GRCm39) |
D322E |
probably damaging |
Het |
Fsip2 |
G |
T |
2: 82,809,524 (GRCm39) |
V1948L |
possibly damaging |
Het |
Gata4 |
T |
C |
14: 63,442,204 (GRCm39) |
D206G |
probably benign |
Het |
Gjd3 |
A |
G |
11: 102,691,769 (GRCm39) |
V78A |
probably damaging |
Het |
Gnl1 |
A |
G |
17: 36,293,490 (GRCm39) |
N225S |
probably damaging |
Het |
Hmces |
G |
A |
6: 87,910,396 (GRCm39) |
A269T |
probably benign |
Het |
Kalrn |
A |
T |
16: 33,814,025 (GRCm39) |
N2434K |
probably damaging |
Het |
Kif1b |
A |
T |
4: 149,361,342 (GRCm39) |
S49T |
probably benign |
Het |
Kndc1 |
C |
T |
7: 139,507,708 (GRCm39) |
S1222F |
possibly damaging |
Het |
Lap3 |
C |
A |
5: 45,669,272 (GRCm39) |
H474N |
probably benign |
Het |
Ldlrad1 |
A |
G |
4: 107,073,412 (GRCm39) |
Y149C |
probably damaging |
Het |
Lsm8 |
T |
C |
6: 18,851,747 (GRCm39) |
V62A |
probably benign |
Het |
Map3k14 |
T |
G |
11: 103,130,278 (GRCm39) |
Q213P |
probably benign |
Het |
Mboat2 |
T |
G |
12: 25,009,033 (GRCm39) |
H478Q |
|
Het |
Mepce |
C |
A |
5: 137,784,779 (GRCm39) |
|
probably benign |
Het |
Mical1 |
G |
A |
10: 41,355,636 (GRCm39) |
R233H |
|
Het |
Muc2 |
A |
G |
7: 141,287,469 (GRCm39) |
H216R |
probably damaging |
Het |
Ntmt1 |
G |
A |
2: 30,712,466 (GRCm39) |
A170T |
probably benign |
Het |
Or2ag15 |
A |
G |
7: 106,340,274 (GRCm39) |
I289T |
possibly damaging |
Het |
Or2d3 |
A |
C |
7: 106,490,536 (GRCm39) |
M260R |
probably damaging |
Het |
Or5w17 |
T |
A |
2: 87,583,838 (GRCm39) |
L166F |
probably damaging |
Het |
Or8g19 |
A |
G |
9: 39,056,083 (GRCm39) |
H229R |
probably benign |
Het |
Pebp4 |
G |
T |
14: 70,085,098 (GRCm39) |
C52F |
probably damaging |
Het |
Pigm |
T |
A |
1: 172,205,085 (GRCm39) |
Y274N |
probably damaging |
Het |
Pik3r6 |
T |
C |
11: 68,424,468 (GRCm39) |
S358P |
probably benign |
Het |
Plekhd1 |
T |
C |
12: 80,767,368 (GRCm39) |
I252T |
probably benign |
Het |
Prss3b |
G |
T |
6: 41,009,305 (GRCm39) |
Y176* |
probably null |
Het |
Racgap1 |
A |
G |
15: 99,526,540 (GRCm39) |
V341A |
probably benign |
Het |
Rprd1a |
T |
C |
18: 24,640,260 (GRCm39) |
D172G |
possibly damaging |
Het |
Spg11 |
T |
C |
2: 121,943,561 (GRCm39) |
D197G |
probably damaging |
Het |
Spmap2 |
T |
C |
10: 79,412,474 (GRCm39) |
D339G |
probably benign |
Het |
Spta1 |
A |
T |
1: 174,021,145 (GRCm39) |
K574N |
possibly damaging |
Het |
Srrd |
A |
T |
5: 112,487,790 (GRCm39) |
F130L |
possibly damaging |
Het |
Stim1 |
A |
T |
7: 102,080,257 (GRCm39) |
H547L |
unknown |
Het |
Stxbp5l |
ATTTT |
ATTTTT |
16: 37,036,414 (GRCm39) |
|
probably null |
Het |
Tap1 |
T |
C |
17: 34,406,867 (GRCm39) |
V5A |
unknown |
Het |
Tent5c |
C |
A |
3: 100,379,707 (GRCm39) |
A350S |
probably benign |
Het |
Vps13c |
G |
T |
9: 67,855,479 (GRCm39) |
A2515S |
probably benign |
Het |
Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
probably damaging |
Het |
Zfyve28 |
T |
C |
5: 34,375,211 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Usp45 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02040:Usp45
|
APN |
4 |
21,830,433 (GRCm39) |
missense |
probably benign |
0.38 |
IGL02053:Usp45
|
APN |
4 |
21,824,553 (GRCm39) |
missense |
probably benign |
0.43 |
IGL02155:Usp45
|
APN |
4 |
21,798,743 (GRCm39) |
splice site |
probably null |
|
R0285:Usp45
|
UTSW |
4 |
21,798,603 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1260:Usp45
|
UTSW |
4 |
21,826,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R1495:Usp45
|
UTSW |
4 |
21,797,385 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1888:Usp45
|
UTSW |
4 |
21,784,811 (GRCm39) |
intron |
probably benign |
|
R2444:Usp45
|
UTSW |
4 |
21,817,528 (GRCm39) |
missense |
probably benign |
0.00 |
R2906:Usp45
|
UTSW |
4 |
21,834,338 (GRCm39) |
nonsense |
probably null |
|
R4058:Usp45
|
UTSW |
4 |
21,810,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R4357:Usp45
|
UTSW |
4 |
21,834,350 (GRCm39) |
nonsense |
probably null |
|
R4386:Usp45
|
UTSW |
4 |
21,830,505 (GRCm39) |
critical splice donor site |
probably null |
|
R4648:Usp45
|
UTSW |
4 |
21,825,044 (GRCm39) |
missense |
probably benign |
0.12 |
R4766:Usp45
|
UTSW |
4 |
21,797,307 (GRCm39) |
missense |
probably damaging |
0.98 |
R4787:Usp45
|
UTSW |
4 |
21,796,860 (GRCm39) |
missense |
probably benign |
|
R4973:Usp45
|
UTSW |
4 |
21,815,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R5152:Usp45
|
UTSW |
4 |
21,824,815 (GRCm39) |
missense |
probably benign |
0.41 |
R5900:Usp45
|
UTSW |
4 |
21,830,451 (GRCm39) |
missense |
probably damaging |
1.00 |
R5960:Usp45
|
UTSW |
4 |
21,810,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R5961:Usp45
|
UTSW |
4 |
21,810,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R6149:Usp45
|
UTSW |
4 |
21,810,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R6150:Usp45
|
UTSW |
4 |
21,810,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R6151:Usp45
|
UTSW |
4 |
21,810,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R6997:Usp45
|
UTSW |
4 |
21,781,844 (GRCm39) |
missense |
probably damaging |
1.00 |
R7504:Usp45
|
UTSW |
4 |
21,816,892 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7565:Usp45
|
UTSW |
4 |
21,784,790 (GRCm39) |
missense |
probably benign |
0.00 |
R7750:Usp45
|
UTSW |
4 |
21,780,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R7992:Usp45
|
UTSW |
4 |
21,824,543 (GRCm39) |
missense |
probably benign |
0.02 |
R8043:Usp45
|
UTSW |
4 |
21,824,543 (GRCm39) |
missense |
probably benign |
0.02 |
R8233:Usp45
|
UTSW |
4 |
21,781,736 (GRCm39) |
missense |
probably benign |
0.33 |
R8237:Usp45
|
UTSW |
4 |
21,834,274 (GRCm39) |
missense |
probably damaging |
0.98 |
R8868:Usp45
|
UTSW |
4 |
21,815,399 (GRCm39) |
critical splice donor site |
probably null |
|
R9036:Usp45
|
UTSW |
4 |
21,832,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R9307:Usp45
|
UTSW |
4 |
21,824,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R9338:Usp45
|
UTSW |
4 |
21,784,755 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Usp45
|
UTSW |
4 |
21,817,613 (GRCm39) |
missense |
possibly damaging |
0.65 |
Z1176:Usp45
|
UTSW |
4 |
21,796,847 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGGCAATAGAGATTTCCACAGG -3'
(R):5'- CCCAAGTAGAACAAGGCCTG -3'
Sequencing Primer
(F):5'- GGGAAAAACAGCCACTAAATGTC -3'
(R):5'- CTGTAAAGCCCGAGTTAC -3'
|
Posted On |
2021-08-02 |