Incidental Mutation 'R2444:Usp45'
| ID |
249906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp45
|
| Ensembl Gene |
ENSMUSG00000040455 |
| Gene Name |
ubiquitin specific petidase 45 |
| Synonyms |
4930550B20Rik, Gcap7, 3110003C05Rik |
| MMRRC Submission |
040402-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2444 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
21767161-21837872 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21817528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 399
(M399L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103867
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040429]
[ENSMUST00000065111]
[ENSMUST00000108232]
[ENSMUST00000148647]
|
| AlphaFold |
Q8K387 |
| Predicted Effect |
probably benign
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
AA Change: M399L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000067109
Gene: ENSMUSG00000040455
AA Change: M399L
| 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
AA Change: M399L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000103867
Gene: ENSMUSG00000040455
AA Change: M399L
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
A |
T |
10: 78,904,561 (GRCm39) |
D112E |
possibly damaging |
Het |
| Abca15 |
A |
G |
7: 119,965,120 (GRCm39) |
Y794C |
probably damaging |
Het |
| Bicd2 |
T |
C |
13: 49,532,500 (GRCm39) |
V362A |
probably benign |
Het |
| Cep126 |
G |
A |
9: 8,101,307 (GRCm39) |
T409M |
probably damaging |
Het |
| Cep131 |
A |
G |
11: 119,961,321 (GRCm39) |
F610S |
probably damaging |
Het |
| Cfap61 |
T |
C |
2: 145,877,239 (GRCm39) |
|
probably null |
Het |
| Chd1l |
A |
G |
3: 97,497,882 (GRCm39) |
Y320H |
probably damaging |
Het |
| Dnajc30 |
A |
G |
5: 135,093,439 (GRCm39) |
D112G |
probably damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,196,289 (GRCm39) |
D486G |
possibly damaging |
Het |
| Fam184a |
A |
C |
10: 53,517,045 (GRCm39) |
L410R |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,172,799 (GRCm39) |
N2638S |
probably damaging |
Het |
| Fgf15 |
A |
G |
7: 144,453,429 (GRCm39) |
D134G |
probably benign |
Het |
| Flywch2 |
A |
T |
17: 23,996,024 (GRCm39) |
S124R |
possibly damaging |
Het |
| Gabra5 |
G |
A |
7: 57,058,623 (GRCm39) |
T375I |
probably benign |
Het |
| Gpat3 |
C |
T |
5: 101,005,039 (GRCm39) |
P58L |
probably benign |
Het |
| Hltf |
T |
A |
3: 20,118,071 (GRCm39) |
N44K |
possibly damaging |
Het |
| Hoatz |
A |
G |
9: 51,011,298 (GRCm39) |
|
probably null |
Het |
| Kcnb2 |
A |
T |
1: 15,779,791 (GRCm39) |
N221I |
probably benign |
Het |
| Marco |
G |
A |
1: 120,422,499 (GRCm39) |
T61M |
probably damaging |
Het |
| Med13 |
A |
G |
11: 86,222,786 (GRCm39) |
I180T |
probably damaging |
Het |
| Mei1 |
C |
T |
15: 81,997,142 (GRCm39) |
T626M |
probably damaging |
Het |
| Mtnr1a |
C |
T |
8: 45,540,695 (GRCm39) |
Q219* |
probably null |
Het |
| Nav3 |
A |
G |
10: 109,600,776 (GRCm39) |
S1284P |
probably benign |
Het |
| Or1j10 |
T |
C |
2: 36,267,625 (GRCm39) |
V279A |
possibly damaging |
Het |
| Or7g30 |
T |
A |
9: 19,352,311 (GRCm39) |
I34K |
possibly damaging |
Het |
| Pcdh9 |
T |
A |
14: 94,124,227 (GRCm39) |
T648S |
probably benign |
Het |
| Proz |
A |
T |
8: 13,111,027 (GRCm39) |
|
probably benign |
Het |
| Rec114 |
G |
T |
9: 58,567,602 (GRCm39) |
A128E |
probably damaging |
Het |
| Rspry1 |
G |
T |
8: 95,349,735 (GRCm39) |
G41V |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 109,929,905 (GRCm39) |
M1388K |
probably benign |
Het |
| Spice1 |
C |
T |
16: 44,186,931 (GRCm39) |
Q143* |
probably null |
Het |
| Tcstv3 |
A |
T |
13: 120,779,365 (GRCm39) |
K88M |
probably damaging |
Het |
| Terb2 |
T |
A |
2: 122,023,788 (GRCm39) |
|
probably null |
Het |
| Tmx3 |
A |
T |
18: 90,558,307 (GRCm39) |
K453M |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,933,200 (GRCm39) |
Y688C |
probably damaging |
Het |
| Tshz2 |
T |
G |
2: 169,726,726 (GRCm39) |
S441A |
probably benign |
Het |
| Vmn2r82 |
A |
T |
10: 79,213,702 (GRCm39) |
H96L |
possibly damaging |
Het |
| Wls |
G |
A |
3: 159,612,867 (GRCm39) |
R261Q |
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 |
|
|
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'- CCCGGGATTAAATCTTTTAACCTTG -3'
(R):5'- AAACAGGAGGGTGCGTGTTC -3'
Sequencing Primer
(F):5'- TAGGACCCTGGTTAAGTTCCAAGC -3'
(R):5'- AGACTGCTGTTTCTACTTGAGAACG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation