Incidental Mutation 'R7750:Usp45'
| ID |
597140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp45
|
| Ensembl Gene |
ENSMUSG00000040455 |
| Gene Name |
ubiquitin specific petidase 45 |
| Synonyms |
4930550B20Rik, Gcap7, 3110003C05Rik |
| MMRRC Submission |
045806-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7750 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
21767161-21837872 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21780430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 27
(D27G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048324
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040429]
[ENSMUST00000065111]
[ENSMUST00000108232]
[ENSMUST00000148304]
[ENSMUST00000148647]
|
| AlphaFold |
Q8K387 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040429
AA Change: D27G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048324
Gene: ENSMUSG00000040455
AA Change: D27G
| 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: D27G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067109
Gene: ENSMUSG00000040455
AA Change: D27G
| 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: D27G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103867
Gene: ENSMUSG00000040455
AA Change: D27G
| 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 damaging
Transcript: ENSMUST00000148304
AA Change: D27G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127194
Gene: ENSMUSG00000040455
AA Change: D27G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (56/56) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,075,199 (GRCm39) |
D816V |
possibly damaging |
Het |
| Abca16 |
A |
T |
7: 120,113,928 (GRCm39) |
N933I |
probably benign |
Het |
| Acly |
A |
T |
11: 100,368,839 (GRCm39) |
|
probably null |
Het |
| Acox1 |
C |
T |
11: 116,074,406 (GRCm39) |
G105D |
possibly damaging |
Het |
| Ankrd24 |
A |
G |
10: 81,482,628 (GRCm39) |
E939G |
possibly damaging |
Het |
| Bard1 |
T |
A |
1: 71,106,101 (GRCm39) |
|
probably null |
Het |
| Brd4 |
G |
T |
17: 32,432,521 (GRCm39) |
N579K |
unknown |
Het |
| C1qc |
T |
C |
4: 136,617,592 (GRCm39) |
Y168C |
probably damaging |
Het |
| Casp6 |
A |
G |
3: 129,705,858 (GRCm39) |
D175G |
probably damaging |
Het |
| Ccdc83 |
A |
T |
7: 89,873,190 (GRCm39) |
Y388* |
probably null |
Het |
| Clasrp |
A |
T |
7: 19,318,516 (GRCm39) |
*628R |
probably null |
Het |
| Cox4i1 |
A |
G |
8: 121,400,049 (GRCm39) |
I111V |
probably benign |
Het |
| Cpvl |
T |
A |
6: 53,903,886 (GRCm39) |
D293V |
probably damaging |
Het |
| Epb41l4b |
C |
T |
4: 57,076,913 (GRCm39) |
|
probably null |
Het |
| Frem2 |
C |
A |
3: 53,431,103 (GRCm39) |
L2743F |
possibly damaging |
Het |
| Frmd4a |
A |
T |
2: 4,606,160 (GRCm39) |
H628L |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,690,184 (GRCm39) |
D809G |
probably damaging |
Het |
| Gm19410 |
T |
A |
8: 36,274,652 (GRCm39) |
M1491K |
possibly damaging |
Het |
| Gm3604 |
G |
A |
13: 62,517,810 (GRCm39) |
H183Y |
possibly damaging |
Het |
| H1f7 |
A |
G |
15: 98,154,565 (GRCm39) |
S195P |
unknown |
Het |
| Lama2 |
T |
C |
10: 26,866,920 (GRCm39) |
Y2858C |
probably damaging |
Het |
| Methig1 |
T |
C |
15: 100,251,412 (GRCm39) |
F108L |
probably benign |
Het |
| Mfsd4b5 |
A |
G |
10: 39,846,251 (GRCm39) |
V443A |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Myh9 |
C |
T |
15: 77,667,610 (GRCm39) |
V608I |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,464,849 (GRCm39) |
D475G |
probably damaging |
Het |
| Neb |
A |
C |
2: 52,170,728 (GRCm39) |
|
probably null |
Het |
| Nlrp1b |
T |
A |
11: 71,059,665 (GRCm39) |
I769F |
probably benign |
Het |
| Nol8 |
G |
T |
13: 49,815,742 (GRCm39) |
V617F |
possibly damaging |
Het |
| Or2d2b |
A |
T |
7: 106,705,740 (GRCm39) |
C109* |
probably null |
Het |
| Pik3r2 |
A |
G |
8: 71,223,545 (GRCm39) |
F346S |
probably damaging |
Het |
| Pou3f3 |
T |
A |
1: 42,737,308 (GRCm39) |
F335I |
probably damaging |
Het |
| Ppp1r3e |
T |
C |
14: 55,114,084 (GRCm39) |
D196G |
probably damaging |
Het |
| Prpf40a |
T |
C |
2: 53,041,757 (GRCm39) |
T545A |
probably damaging |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rprd1a |
T |
A |
18: 24,641,311 (GRCm39) |
K102* |
probably null |
Het |
| Sim1 |
A |
G |
10: 50,772,131 (GRCm39) |
T47A |
possibly damaging |
Het |
| Slc45a1 |
C |
T |
4: 150,728,498 (GRCm39) |
A102T |
probably damaging |
Het |
| Slc6a11 |
C |
T |
6: 114,207,098 (GRCm39) |
P361S |
possibly damaging |
Het |
| Slc9b2 |
T |
C |
3: 135,031,998 (GRCm39) |
F286S |
probably damaging |
Het |
| Slco4a1 |
T |
C |
2: 180,113,030 (GRCm39) |
S421P |
probably benign |
Het |
| Snap91 |
A |
C |
9: 86,680,762 (GRCm39) |
|
probably null |
Het |
| Sppl2a |
A |
G |
2: 126,761,625 (GRCm39) |
L293P |
probably damaging |
Het |
| Sval3 |
T |
A |
6: 41,949,360 (GRCm39) |
I66K |
possibly damaging |
Het |
| Synj2bp |
T |
C |
12: 81,551,311 (GRCm39) |
I85V |
probably benign |
Het |
| Thop1 |
G |
T |
10: 80,916,025 (GRCm39) |
A403S |
probably benign |
Het |
| Timd4 |
T |
A |
11: 46,706,354 (GRCm39) |
M52K |
probably damaging |
Het |
| Tmco5b |
A |
G |
2: 113,118,609 (GRCm39) |
N111D |
probably damaging |
Het |
| Trip10 |
G |
A |
17: 57,568,667 (GRCm39) |
V419I |
possibly damaging |
Het |
| Trpv3 |
T |
C |
11: 73,176,847 (GRCm39) |
Y409H |
probably damaging |
Het |
| Tulp4 |
A |
G |
17: 6,283,399 (GRCm39) |
T1143A |
probably damaging |
Het |
| Ugt2b5 |
A |
T |
5: 87,288,108 (GRCm39) |
S20T |
probably benign |
Het |
| Unc5b |
A |
G |
10: 60,610,823 (GRCm39) |
F406L |
probably benign |
Het |
| Usf3 |
A |
G |
16: 44,040,884 (GRCm39) |
E1788G |
probably benign |
Het |
| Vmn2r100 |
G |
A |
17: 19,742,726 (GRCm39) |
V367I |
probably benign |
Het |
| Vmn2r49 |
T |
A |
7: 9,710,185 (GRCm39) |
K849I |
probably damaging |
Het |
| Zfp119b |
A |
T |
17: 56,245,682 (GRCm39) |
H501Q |
probably damaging |
Het |
| Zfp462 |
C |
A |
4: 55,016,958 (GRCm39) |
H893N |
probably benign |
Het |
| Zkscan4 |
A |
G |
13: 21,663,525 (GRCm39) |
E88G |
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 |
|
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 |
|
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'- AGTTCTGTCGCTTCACACTCAG -3'
(R):5'- ACAATGGCTTTGTAGGTGGAGC -3'
Sequencing Primer
(F):5'- CCTCTGTTGATTTGACCAGTCTAG -3'
(R):5'- CTTTGTAGGTGGAGCTAGAGAAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation