Incidental Mutation 'R4386:Usp45'
| ID |
326213 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp45
|
| Ensembl Gene |
ENSMUSG00000040455 |
| Gene Name |
ubiquitin specific petidase 45 |
| Synonyms |
4930550B20Rik, Gcap7, 3110003C05Rik |
| MMRRC Submission |
041680-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4386 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
21767161-21837872 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 21830505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040429]
[ENSMUST00000065111]
[ENSMUST00000065111]
[ENSMUST00000108232]
|
| 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: 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 |
|
| Meta Mutation Damage Score |
0.9491 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (48/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
T |
5: 114,379,982 (GRCm39) |
|
probably null |
Het |
| Acsm3 |
G |
T |
7: 119,373,094 (GRCm39) |
W199L |
probably damaging |
Het |
| Arap1 |
T |
A |
7: 101,034,778 (GRCm39) |
D236E |
probably benign |
Het |
| Arhgap1 |
T |
C |
2: 91,498,582 (GRCm39) |
Y160H |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,045,247 (GRCm39) |
|
probably benign |
Het |
| Cdc25a |
A |
G |
9: 109,718,801 (GRCm39) |
E334G |
probably damaging |
Het |
| Ciz1 |
C |
T |
2: 32,260,111 (GRCm39) |
T219M |
possibly damaging |
Het |
| Cluap1 |
A |
C |
16: 3,751,586 (GRCm39) |
D315A |
possibly damaging |
Het |
| Cps1 |
T |
C |
1: 67,210,154 (GRCm39) |
|
probably null |
Het |
| Cul2 |
T |
C |
18: 3,434,856 (GRCm39) |
S668P |
probably damaging |
Het |
| Fah |
T |
A |
7: 84,248,344 (GRCm39) |
T125S |
probably damaging |
Het |
| Fam221a |
G |
A |
6: 49,355,366 (GRCm39) |
C156Y |
probably damaging |
Het |
| Gm6158 |
G |
T |
14: 24,120,362 (GRCm39) |
|
noncoding transcript |
Het |
| Hbq1b |
T |
A |
11: 32,237,295 (GRCm39) |
V63E |
probably damaging |
Het |
| Ighv6-5 |
G |
A |
12: 114,380,337 (GRCm39) |
T79I |
possibly damaging |
Het |
| Kif12 |
G |
A |
4: 63,089,455 (GRCm39) |
T99M |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 92,996,272 (GRCm39) |
K298M |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lama1 |
A |
G |
17: 68,080,707 (GRCm39) |
Q1245R |
probably benign |
Het |
| Marchf4 |
G |
A |
1: 72,467,973 (GRCm39) |
P353L |
probably benign |
Het |
| Nadk |
A |
T |
4: 155,667,032 (GRCm39) |
|
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,247,389 (GRCm39) |
T345A |
probably damaging |
Het |
| Niban3 |
A |
G |
8: 72,060,155 (GRCm39) |
|
probably benign |
Het |
| Nsun6 |
T |
A |
2: 15,001,333 (GRCm39) |
M408L |
probably benign |
Het |
| Nuak1 |
T |
A |
10: 84,229,908 (GRCm39) |
E155V |
probably damaging |
Het |
| Oosp1 |
C |
T |
19: 11,645,158 (GRCm39) |
V169I |
possibly damaging |
Het |
| Or13c7c |
C |
T |
4: 43,836,124 (GRCm39) |
R122H |
probably benign |
Het |
| Or2t26 |
T |
A |
11: 49,039,842 (GRCm39) |
Y253N |
probably damaging |
Het |
| Or5ae2 |
T |
C |
7: 84,505,756 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or5p81 |
T |
A |
7: 108,267,460 (GRCm39) |
V279E |
probably damaging |
Het |
| Pabpc2 |
T |
C |
18: 39,908,238 (GRCm39) |
V501A |
probably benign |
Het |
| Pik3c2a |
A |
G |
7: 115,953,334 (GRCm39) |
V1187A |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,484,516 (GRCm39) |
V2013A |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,055,914 (GRCm39) |
S759T |
possibly damaging |
Het |
| Scgb1b2 |
T |
A |
7: 30,990,089 (GRCm39) |
K86N |
possibly damaging |
Het |
| Sdk1 |
T |
C |
5: 142,080,381 (GRCm39) |
I1291T |
probably damaging |
Het |
| Skint5 |
T |
C |
4: 113,341,090 (GRCm39) |
Y1396C |
probably benign |
Het |
| Slc24a3 |
A |
G |
2: 145,448,746 (GRCm39) |
E380G |
probably benign |
Het |
| Spock1 |
A |
G |
13: 57,588,263 (GRCm39) |
S270P |
probably damaging |
Het |
| Tmem128 |
T |
C |
5: 38,419,418 (GRCm39) |
S57P |
probably damaging |
Het |
| Tmem186 |
G |
A |
16: 8,453,887 (GRCm39) |
R125W |
probably benign |
Het |
| Tnfaip3 |
A |
G |
10: 18,882,758 (GRCm39) |
S220P |
probably damaging |
Het |
| Usp5 |
C |
T |
6: 124,795,437 (GRCm39) |
|
probably null |
Het |
| Vmn1r35 |
A |
T |
6: 66,656,573 (GRCm39) |
C32* |
probably null |
Het |
| Vmn2r112 |
T |
A |
17: 22,820,303 (GRCm39) |
F59I |
probably benign |
Het |
| Wfdc9 |
A |
T |
2: 164,492,458 (GRCm39) |
S56R |
probably benign |
Het |
| Zfp369 |
A |
G |
13: 65,444,806 (GRCm39) |
I650V |
probably benign |
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 |
|
|
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'- TGACAGTATATACCAGTGGATTAGC -3'
(R):5'- AAGAGTGTGCAGCTCTGAC -3'
Sequencing Primer
(F):5'- ACTACAGAGAAGGTAGTTGATCTATG -3'
(R):5'- ACGGTTGGGGTCCATGC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation