Incidental Mutation 'R8868:Usp45'
| ID |
676069 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp45
|
| Ensembl Gene |
ENSMUSG00000040455 |
| Gene Name |
ubiquitin specific petidase 45 |
| Synonyms |
4930550B20Rik, Gcap7, 3110003C05Rik |
| MMRRC Submission |
068683-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8868 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
21767161-21837872 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 21815399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048324
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040429]
[ENSMUST00000040429]
[ENSMUST00000065111]
[ENSMUST00000108232]
[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 benign
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 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: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (64/64) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad8 |
T |
A |
9: 26,890,544 (GRCm39) |
N255Y |
probably damaging |
Het |
| Accsl |
A |
C |
2: 93,696,490 (GRCm39) |
L36R |
probably benign |
Het |
| Acvr2a |
T |
A |
2: 48,763,469 (GRCm39) |
V171E |
probably benign |
Het |
| Adgrl3 |
A |
G |
5: 81,794,451 (GRCm39) |
I491V |
probably benign |
Het |
| Ak9 |
G |
A |
10: 41,193,842 (GRCm39) |
|
probably null |
Het |
| Ak9 |
G |
T |
10: 41,258,869 (GRCm39) |
E789* |
probably null |
Het |
| Akr1c19 |
T |
A |
13: 4,293,070 (GRCm39) |
N275K |
probably benign |
Het |
| Alg1 |
A |
G |
16: 5,061,557 (GRCm39) |
H398R |
probably benign |
Het |
| Apol11a |
T |
A |
15: 77,401,209 (GRCm39) |
I232N |
probably damaging |
Het |
| Cacnb2 |
A |
G |
2: 14,989,080 (GRCm39) |
I437V |
probably benign |
Het |
| Catsper4 |
A |
G |
4: 133,954,417 (GRCm39) |
|
probably null |
Het |
| Cdhr17 |
G |
A |
5: 17,028,152 (GRCm39) |
G449D |
probably benign |
Het |
| Crnn |
T |
C |
3: 93,055,609 (GRCm39) |
C132R |
probably benign |
Het |
| Cyp4a14 |
T |
A |
4: 115,348,553 (GRCm39) |
H337L |
probably damaging |
Het |
| Dcdc2a |
C |
T |
13: 25,386,266 (GRCm39) |
A380V |
probably benign |
Het |
| Dclre1b |
T |
C |
3: 103,710,654 (GRCm39) |
N419S |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,625,503 (GRCm39) |
D621G |
possibly damaging |
Het |
| Dmwd |
T |
A |
7: 18,814,694 (GRCm39) |
L448Q |
probably damaging |
Het |
| Dnajc13 |
G |
A |
9: 104,042,987 (GRCm39) |
H1922Y |
probably benign |
Het |
| E2f3 |
A |
T |
13: 30,095,301 (GRCm39) |
I329N |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,927,988 (GRCm39) |
V266M |
probably benign |
Het |
| Entpd2 |
A |
G |
2: 25,289,725 (GRCm39) |
T376A |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,908,671 (GRCm38) |
T1350A |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 53,016,077 (GRCm39) |
E999G |
unknown |
Het |
| Hivep1 |
A |
G |
13: 42,312,407 (GRCm39) |
Q1549R |
possibly damaging |
Het |
| Hps6 |
G |
A |
19: 45,992,446 (GRCm39) |
V128M |
possibly damaging |
Het |
| Ifi27l2a |
T |
C |
12: 103,402,899 (GRCm39) |
S66P |
possibly damaging |
Het |
| Ikbip |
T |
C |
10: 90,932,187 (GRCm39) |
V277A |
possibly damaging |
Het |
| Ints8 |
T |
C |
4: 11,230,488 (GRCm39) |
E451G |
probably benign |
Het |
| Itih2 |
A |
T |
2: 10,132,600 (GRCm39) |
S64T |
probably benign |
Het |
| Kcnc4 |
T |
A |
3: 107,355,452 (GRCm39) |
E332V |
probably damaging |
Het |
| Krt23 |
T |
C |
11: 99,374,567 (GRCm39) |
|
probably benign |
Het |
| Lrpprc |
C |
A |
17: 85,078,920 (GRCm39) |
G265C |
probably damaging |
Het |
| Nav1 |
G |
T |
1: 135,512,943 (GRCm39) |
A39E |
probably benign |
Het |
| Ogfod1 |
G |
T |
8: 94,773,906 (GRCm39) |
D103Y |
probably damaging |
Het |
| Or7g20 |
T |
G |
9: 18,946,778 (GRCm39) |
Y120D |
probably damaging |
Het |
| Or8b55 |
G |
A |
9: 38,727,285 (GRCm39) |
C162Y |
probably damaging |
Het |
| Or8g37 |
A |
G |
9: 39,731,252 (GRCm39) |
T106A |
probably benign |
Het |
| Ppp1r3a |
A |
T |
6: 14,755,014 (GRCm39) |
S78T |
probably damaging |
Het |
| Rnf148 |
A |
T |
6: 23,654,540 (GRCm39) |
V152E |
probably damaging |
Het |
| Sdf2 |
A |
T |
11: 78,136,970 (GRCm39) |
H50L |
probably damaging |
Het |
| Sec1 |
T |
A |
7: 45,328,700 (GRCm39) |
M116L |
probably benign |
Het |
| Sema6d |
T |
C |
2: 124,496,114 (GRCm39) |
S53P |
probably damaging |
Het |
| Siae |
A |
G |
9: 37,528,132 (GRCm39) |
Y35C |
probably damaging |
Het |
| Slc18b1 |
A |
T |
10: 23,686,751 (GRCm39) |
Y189F |
probably damaging |
Het |
| Slc35d1 |
T |
C |
4: 103,065,351 (GRCm39) |
T177A |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,729,747 (GRCm39) |
T124A |
possibly damaging |
Het |
| Strn4 |
G |
A |
7: 16,560,570 (GRCm39) |
E241K |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,135,578 (GRCm39) |
I510T |
possibly damaging |
Het |
| Svop |
T |
C |
5: 114,170,854 (GRCm39) |
D395G |
probably damaging |
Het |
| Tbc1d14 |
A |
C |
5: 36,728,888 (GRCm39) |
S159R |
probably damaging |
Het |
| Tex50 |
T |
A |
1: 160,984,848 (GRCm39) |
I131F |
possibly damaging |
Het |
| Tssk1 |
A |
G |
16: 17,712,884 (GRCm39) |
K223R |
probably benign |
Het |
| Ttc3 |
A |
G |
16: 94,252,002 (GRCm39) |
I1565V |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,541,938 (GRCm39) |
F33683I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,783,470 (GRCm39) |
M887V |
unknown |
Het |
| Wdr47 |
C |
T |
3: 108,498,841 (GRCm39) |
|
probably benign |
Het |
| Xirp1 |
A |
G |
9: 119,846,871 (GRCm39) |
S671P |
probably benign |
Het |
| Zbtb18 |
A |
G |
1: 177,274,682 (GRCm39) |
D5G |
probably benign |
Het |
| Zc3h7b |
G |
A |
15: 81,656,681 (GRCm39) |
R166Q |
probably benign |
Het |
| Zfp260 |
T |
G |
7: 29,804,914 (GRCm39) |
Y271* |
probably null |
Het |
| Zfp369 |
T |
A |
13: 65,445,082 (GRCm39) |
S742T |
possibly damaging |
Het |
| Zfp786 |
A |
T |
6: 47,802,015 (GRCm39) |
D87E |
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 |
|
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 |
|
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'- GTAGTAGCATGTCACTCTCGG -3'
(R):5'- AGACACCACTACTGTCCTTTAAGAG -3'
Sequencing Primer
(F):5'- AGTAGCATGTCACTCTCGGATCAG -3'
(R):5'- TGTATGAAGCAAATATTGGGAATTTG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation