Incidental Mutation 'R7504:Usp45'
ID |
581660 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp45
|
Ensembl Gene |
ENSMUSG00000040455 |
Gene Name |
ubiquitin specific petidase 45 |
Synonyms |
4930550B20Rik, Gcap7, 3110003C05Rik |
MMRRC Submission |
045577-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7504 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
21767161-21837872 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 21816892 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 374
(M374R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048324
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040429]
[ENSMUST00000065111]
[ENSMUST00000108232]
[ENSMUST00000148647]
|
AlphaFold |
Q8K387 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040429
AA Change: M374R
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000048324 Gene: ENSMUSG00000040455 AA Change: M374R
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 |
possibly damaging
Transcript: ENSMUST00000065111
AA Change: M374R
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000067109 Gene: ENSMUSG00000040455 AA Change: M374R
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 |
possibly damaging
Transcript: ENSMUST00000108232
AA Change: M374R
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000103867 Gene: ENSMUSG00000040455 AA Change: M374R
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148647
|
SMART Domains |
Protein: ENSMUSP00000128859 Gene: ENSMUSG00000040455
Domain | Start | End | E-Value | Type |
Pfam:UCH
|
54 |
150 |
4.6e-9 |
PFAM |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (43/43) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600012H06Rik |
C |
G |
17: 15,163,915 (GRCm39) |
A14G |
probably damaging |
Het |
Btn1a1 |
A |
T |
13: 23,645,886 (GRCm39) |
M161K |
probably benign |
Het |
Camkk2 |
G |
A |
5: 122,884,371 (GRCm39) |
T350I |
probably damaging |
Het |
Cdc42bpg |
C |
A |
19: 6,356,814 (GRCm39) |
D23E |
possibly damaging |
Het |
Cdkn1a |
T |
C |
17: 29,317,488 (GRCm39) |
L36P |
probably damaging |
Het |
Dek |
A |
G |
13: 47,241,511 (GRCm39) |
I351T |
probably damaging |
Het |
Dst |
T |
C |
1: 34,240,098 (GRCm39) |
Y1816H |
probably damaging |
Het |
Efl1 |
T |
A |
7: 82,332,257 (GRCm39) |
N300K |
probably damaging |
Het |
Ephx2 |
A |
G |
14: 66,339,066 (GRCm39) |
Y294H |
probably damaging |
Het |
Fancd2 |
T |
A |
6: 113,521,999 (GRCm39) |
I198N |
probably damaging |
Het |
Grid1 |
G |
T |
14: 35,284,470 (GRCm39) |
A738S |
probably damaging |
Het |
Gsx2 |
G |
A |
5: 75,237,060 (GRCm39) |
|
probably null |
Het |
Hc |
G |
A |
2: 34,951,331 (GRCm39) |
T22I |
not run |
Het |
Hps1 |
T |
C |
19: 42,755,159 (GRCm39) |
D261G |
probably benign |
Het |
Ift80 |
T |
C |
3: 68,825,338 (GRCm39) |
Y539C |
probably damaging |
Het |
Insc |
G |
T |
7: 114,390,533 (GRCm39) |
|
probably null |
Het |
Isg15 |
T |
C |
4: 156,284,502 (GRCm39) |
M9V |
probably damaging |
Het |
Kalrn |
A |
G |
16: 34,076,603 (GRCm39) |
L695P |
unknown |
Het |
Nars1 |
A |
C |
18: 64,645,093 (GRCm39) |
F52V |
probably benign |
Het |
Nmt1 |
T |
G |
11: 102,947,285 (GRCm39) |
F225V |
probably damaging |
Het |
Or10q12 |
T |
A |
19: 13,746,096 (GRCm39) |
I130N |
probably damaging |
Het |
Or7a36 |
A |
G |
10: 78,820,494 (GRCm39) |
Y290C |
possibly damaging |
Het |
Or8c8 |
A |
T |
9: 38,165,539 (GRCm39) |
K272N |
possibly damaging |
Het |
Pbx3 |
T |
C |
2: 34,065,936 (GRCm39) |
T385A |
probably damaging |
Het |
Pcdhb11 |
A |
T |
18: 37,554,852 (GRCm39) |
T61S |
probably benign |
Het |
Pramel40 |
G |
T |
5: 94,464,906 (GRCm39) |
V431L |
probably benign |
Het |
Rab11fip1 |
T |
C |
8: 27,642,981 (GRCm39) |
E606G |
possibly damaging |
Het |
Rnf216 |
A |
G |
5: 143,061,514 (GRCm39) |
Y589H |
probably benign |
Het |
Scara3 |
A |
G |
14: 66,168,780 (GRCm39) |
I279T |
possibly damaging |
Het |
Sdk2 |
T |
A |
11: 113,758,793 (GRCm39) |
Y477F |
possibly damaging |
Het |
Secisbp2l |
T |
C |
2: 125,600,091 (GRCm39) |
K415E |
probably benign |
Het |
Stag1 |
C |
T |
9: 100,770,381 (GRCm39) |
T639I |
probably benign |
Het |
Sv2b |
A |
T |
7: 74,786,131 (GRCm39) |
F430I |
probably benign |
Het |
Tenm2 |
C |
T |
11: 36,030,570 (GRCm39) |
C743Y |
probably damaging |
Het |
Tet2 |
C |
A |
3: 133,193,100 (GRCm39) |
V445L |
probably benign |
Het |
Tmem132c |
T |
C |
5: 127,631,696 (GRCm39) |
S652P |
probably damaging |
Het |
Togaram1 |
A |
G |
12: 65,039,391 (GRCm39) |
D1155G |
possibly damaging |
Het |
Traip |
T |
C |
9: 107,838,743 (GRCm39) |
I169T |
probably benign |
Het |
Trmt9b |
A |
C |
8: 36,979,309 (GRCm39) |
N304T |
probably benign |
Het |
Vmn2r81 |
A |
T |
10: 79,104,166 (GRCm39) |
H263L |
probably benign |
Het |
Wdr95 |
T |
C |
5: 149,505,311 (GRCm39) |
V364A |
probably damaging |
Het |
Zfp128 |
G |
A |
7: 12,624,405 (GRCm39) |
D258N |
probably damaging |
Het |
Zfp335 |
G |
A |
2: 164,751,338 (GRCm39) |
T76I |
probably benign |
Het |
Zfp688 |
C |
A |
7: 127,018,483 (GRCm39) |
C214F |
probably damaging |
Het |
Zfp760 |
T |
C |
17: 21,941,655 (GRCm39) |
S277P |
probably damaging |
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 |
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 |
|
R8883:Usp45
|
UTSW |
4 |
21,825,006 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AGAAATCGGTCAAATGCTTGTC -3'
(R):5'- CAAGGTTAAAAGATTTAATCCCGGG -3'
Sequencing Primer
(F):5'- AAGTTGTCTGAGAGGTTTGA -3'
(R):5'- TATATACTTCATGCACACATACGC -3'
|
Posted On |
2019-10-17 |