Incidental Mutation 'R0285:Usp45'
| ID |
24653 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp45
|
| Ensembl Gene |
ENSMUSG00000040455 |
| Gene Name |
ubiquitin specific petidase 45 |
| Synonyms |
4930550B20Rik, Gcap7, 3110003C05Rik |
| MMRRC Submission |
038506-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0285 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
21767161-21837872 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to G
at 21798603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127194
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040429]
[ENSMUST00000040429]
[ENSMUST00000040429]
[ENSMUST00000040429]
[ENSMUST00000065111]
[ENSMUST00000065111]
[ENSMUST00000065111]
[ENSMUST00000065111]
[ENSMUST00000108232]
[ENSMUST00000148304]
[ENSMUST00000148304]
[ENSMUST00000148304]
[ENSMUST00000148647]
|
| AlphaFold |
Q8K387 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040429
|
| SMART Domains |
Protein: ENSMUSP00000048324
Gene: ENSMUSG00000040455
| 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 null
Transcript: ENSMUST00000040429
|
| SMART Domains |
Protein: ENSMUSP00000048324
Gene: ENSMUSG00000040455
| 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 null
Transcript: ENSMUST00000040429
|
| SMART Domains |
Protein: ENSMUSP00000048324
Gene: ENSMUSG00000040455
| 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 null
Transcript: ENSMUST00000040429
|
| SMART Domains |
Protein: ENSMUSP00000048324
Gene: ENSMUSG00000040455
| 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 null
Transcript: ENSMUST00000065111
|
| SMART Domains |
Protein: ENSMUSP00000067109
Gene: ENSMUSG00000040455
| 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 null
Transcript: ENSMUST00000065111
|
| SMART Domains |
Protein: ENSMUSP00000067109
Gene: ENSMUSG00000040455
| 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 null
Transcript: ENSMUST00000065111
|
| SMART Domains |
Protein: ENSMUSP00000067109
Gene: ENSMUSG00000040455
| 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 null
Transcript: ENSMUST00000065111
|
| SMART Domains |
Protein: ENSMUSP00000067109
Gene: ENSMUSG00000040455
| 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 benign
Transcript: ENSMUST00000108232
|
| SMART Domains |
Protein: ENSMUSP00000103867
Gene: ENSMUSG00000040455
| 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 null
Transcript: ENSMUST00000148304
|
| SMART Domains |
Protein: ENSMUSP00000127194
Gene: ENSMUSG00000040455
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-UBP
|
59 |
138 |
2.7e-21 |
PFAM |
|
Pfam:UCH
|
189 |
248 |
1.9e-7 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000148304
|
| SMART Domains |
Protein: ENSMUSP00000127194
Gene: ENSMUSG00000040455
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-UBP
|
59 |
138 |
2.7e-21 |
PFAM |
|
Pfam:UCH
|
189 |
248 |
1.9e-7 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000148304
|
| SMART Domains |
Protein: ENSMUSP00000127194
Gene: ENSMUSG00000040455
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-UBP
|
59 |
138 |
2.7e-21 |
PFAM |
|
Pfam:UCH
|
189 |
248 |
1.9e-7 |
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 |
0.9474 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 96.1%
- 20x: 92.9%
|
| Validation Efficiency |
99% (80/81) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy3 |
A |
G |
19: 4,038,193 (GRCm39) |
E162G |
probably benign |
Het |
| Angptl1 |
T |
C |
1: 156,672,785 (GRCm39) |
S204P |
probably benign |
Het |
| Atf6b |
C |
T |
17: 34,869,370 (GRCm39) |
|
probably benign |
Het |
| Card11 |
G |
A |
5: 140,872,856 (GRCm39) |
S619F |
probably damaging |
Het |
| Ccdc192 |
G |
A |
18: 57,666,937 (GRCm39) |
G5S |
probably damaging |
Het |
| Ccl11 |
G |
A |
11: 81,953,084 (GRCm39) |
V81I |
probably damaging |
Het |
| Cds1 |
T |
C |
5: 101,944,904 (GRCm39) |
I126T |
probably damaging |
Het |
| Chd1 |
A |
G |
17: 17,594,942 (GRCm39) |
|
probably benign |
Het |
| Cndp1 |
C |
A |
18: 84,636,363 (GRCm39) |
V384F |
possibly damaging |
Het |
| Cuta |
A |
G |
17: 27,158,423 (GRCm39) |
|
probably null |
Het |
| Diaph3 |
G |
A |
14: 87,352,460 (GRCm39) |
T47I |
possibly damaging |
Het |
| Dop1a |
A |
T |
9: 86,394,692 (GRCm39) |
S598C |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,356,770 (GRCm39) |
M217V |
probably benign |
Het |
| Entrep1 |
G |
A |
19: 23,956,749 (GRCm39) |
|
probably benign |
Het |
| Esyt1 |
T |
A |
10: 128,348,087 (GRCm39) |
I898F |
possibly damaging |
Het |
| Fcsk |
G |
C |
8: 111,620,349 (GRCm39) |
H235Q |
probably benign |
Het |
| Fgd3 |
A |
T |
13: 49,417,424 (GRCm39) |
W680R |
possibly damaging |
Het |
| Folh1 |
A |
G |
7: 86,391,373 (GRCm39) |
|
probably benign |
Het |
| Gadl1 |
C |
A |
9: 115,859,806 (GRCm39) |
|
probably benign |
Het |
| Garem1 |
A |
G |
18: 21,262,669 (GRCm39) |
M715T |
probably benign |
Het |
| Gpd2 |
A |
T |
2: 57,228,967 (GRCm39) |
D257V |
probably benign |
Het |
| Hdac7 |
A |
G |
15: 97,696,103 (GRCm39) |
|
probably null |
Het |
| Heatr5b |
A |
G |
17: 79,115,882 (GRCm39) |
M858T |
probably benign |
Het |
| Inpp4b |
A |
T |
8: 82,761,145 (GRCm39) |
|
probably benign |
Het |
| Iqgap3 |
G |
T |
3: 88,004,297 (GRCm39) |
C461F |
probably benign |
Het |
| Lamb1 |
C |
A |
12: 31,376,644 (GRCm39) |
C559* |
probably null |
Het |
| Lratd2 |
T |
C |
15: 60,694,816 (GRCm39) |
H310R |
probably benign |
Het |
| Lrrc31 |
T |
C |
3: 30,739,097 (GRCm39) |
N308S |
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,148,663 (GRCm39) |
Y1222C |
probably damaging |
Het |
| Map3k10 |
C |
A |
7: 27,373,325 (GRCm39) |
R42L |
probably benign |
Het |
| Meioc |
A |
G |
11: 102,563,017 (GRCm39) |
T72A |
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mmp11 |
T |
C |
10: 75,761,502 (GRCm39) |
Y366C |
probably damaging |
Het |
| N4bp2 |
T |
A |
5: 65,963,902 (GRCm39) |
D650E |
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,257,621 (GRCm39) |
M641V |
probably damaging |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Nol4l |
G |
A |
2: 153,325,773 (GRCm39) |
|
probably benign |
Het |
| Notch1 |
T |
G |
2: 26,350,873 (GRCm39) |
D2089A |
possibly damaging |
Het |
| Or10q3 |
A |
G |
19: 11,848,502 (GRCm39) |
L26P |
probably damaging |
Het |
| Or13c7 |
G |
A |
4: 43,854,398 (GRCm39) |
V30M |
possibly damaging |
Het |
| Or52h2 |
A |
T |
7: 103,838,531 (GRCm39) |
Y294* |
probably null |
Het |
| Or5b24 |
A |
T |
19: 12,912,536 (GRCm39) |
M145L |
probably benign |
Het |
| Or5l13 |
A |
G |
2: 87,780,475 (GRCm39) |
I34T |
probably damaging |
Het |
| Or5p68 |
A |
G |
7: 107,945,706 (GRCm39) |
S161P |
probably benign |
Het |
| Or8d23 |
T |
A |
9: 38,842,070 (GRCm39) |
I201N |
possibly damaging |
Het |
| Otof |
C |
T |
5: 30,536,877 (GRCm39) |
|
probably null |
Het |
| Paox |
T |
C |
7: 139,709,053 (GRCm39) |
F324L |
probably damaging |
Het |
| Pycr1 |
A |
T |
11: 120,531,142 (GRCm39) |
I277N |
probably benign |
Het |
| R3hcc1l |
A |
T |
19: 42,564,568 (GRCm39) |
H627L |
probably damaging |
Het |
| Rab21 |
G |
A |
10: 115,126,768 (GRCm39) |
S193L |
probably benign |
Het |
| Ralgds |
T |
G |
2: 28,440,581 (GRCm39) |
|
probably null |
Het |
| Rbm42 |
A |
G |
7: 30,345,265 (GRCm39) |
S169P |
possibly damaging |
Het |
| Rfpl4 |
A |
G |
7: 5,113,377 (GRCm39) |
V262A |
probably benign |
Het |
| Rhobtb3 |
A |
G |
13: 76,025,628 (GRCm39) |
I496T |
possibly damaging |
Het |
| Rnf31 |
G |
A |
14: 55,838,846 (GRCm39) |
A901T |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,731,863 (GRCm39) |
D2359G |
probably damaging |
Het |
| Sgo2b |
A |
C |
8: 64,381,823 (GRCm39) |
Y336* |
probably null |
Het |
| Slc16a7 |
T |
A |
10: 125,130,500 (GRCm39) |
I62L |
probably benign |
Het |
| Slc22a21 |
A |
T |
11: 53,850,022 (GRCm39) |
|
probably benign |
Het |
| Slc25a21 |
A |
G |
12: 56,904,810 (GRCm39) |
|
probably null |
Het |
| Slc5a4b |
T |
C |
10: 75,898,117 (GRCm39) |
I532M |
probably damaging |
Het |
| Spata31f1a |
G |
A |
4: 42,850,236 (GRCm39) |
T640M |
probably benign |
Het |
| Srrm4 |
C |
A |
5: 116,605,848 (GRCm39) |
|
probably benign |
Het |
| Stxbp1 |
C |
A |
2: 32,713,554 (GRCm39) |
E27D |
probably benign |
Het |
| Sult2a5 |
T |
A |
7: 13,362,685 (GRCm39) |
Y131N |
probably damaging |
Het |
| Svopl |
T |
C |
6: 37,961,457 (GRCm39) |
Q492R |
probably benign |
Het |
| Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
| Tmem87a |
A |
G |
2: 120,224,905 (GRCm39) |
S119P |
probably benign |
Het |
| Tmprss11c |
A |
G |
5: 86,419,289 (GRCm39) |
L90P |
probably damaging |
Het |
| Tmprss6 |
T |
A |
15: 78,337,068 (GRCm39) |
D346V |
probably damaging |
Het |
| Ubr4 |
A |
C |
4: 139,168,112 (GRCm39) |
S2820R |
probably damaging |
Het |
| Usp4 |
T |
C |
9: 108,255,763 (GRCm39) |
V607A |
probably benign |
Het |
| Vill |
C |
T |
9: 118,899,895 (GRCm39) |
|
probably benign |
Het |
| Vmn1r13 |
C |
A |
6: 57,186,979 (GRCm39) |
T46N |
probably benign |
Het |
| Vmn2r107 |
A |
G |
17: 20,565,873 (GRCm39) |
T63A |
probably benign |
Het |
| Vmn2r82 |
T |
A |
10: 79,232,391 (GRCm39) |
W797R |
probably damaging |
Het |
| Washc2 |
T |
A |
6: 116,198,800 (GRCm39) |
D287E |
probably damaging |
Het |
| Xpc |
G |
A |
6: 91,475,046 (GRCm39) |
L660F |
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 |
|
|
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 |
|
|
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'- TCTGAGCCAGGGGTCAAATGAGAC -3'
(R):5'- CCTTGCTGTGTGAATGCTGCATTAG -3'
Sequencing Primer
(F):5'- GTAGCTCTTAGAGTCTTGGCAAT -3'
(R):5'- ATGCTGCATTAGTACTTTGTGACC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation