Incidental Mutation 'R8233:Usp45'
| ID |
637214 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp45
|
| Ensembl Gene |
ENSMUSG00000040455 |
| Gene Name |
ubiquitin specific petidase 45 |
| Synonyms |
4930550B20Rik, Gcap7, 3110003C05Rik |
| MMRRC Submission |
067665-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8233 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
21767161-21837872 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21781736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 34
(V34A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048324
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040429]
[ENSMUST00000065111]
[ENSMUST00000108232]
[ENSMUST00000148304]
[ENSMUST00000148647]
|
| AlphaFold |
Q8K387 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040429
AA Change: V34A
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000048324
Gene: ENSMUSG00000040455
AA Change: V34A
| 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 |
possibly damaging
Transcript: ENSMUST00000065111
AA Change: V34A
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000067109
Gene: ENSMUSG00000040455
AA Change: V34A
| 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 |
possibly damaging
Transcript: ENSMUST00000108232
AA Change: V34A
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103867
Gene: ENSMUSG00000040455
AA Change: V34A
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.8%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
A |
T |
18: 70,602,687 (GRCm39) |
V42E |
probably benign |
Het |
| Abca12 |
T |
C |
1: 71,390,916 (GRCm39) |
E153G |
probably benign |
Het |
| Adamts20 |
A |
C |
15: 94,189,533 (GRCm39) |
I1440S |
probably benign |
Het |
| Aspm |
T |
A |
1: 139,385,042 (GRCm39) |
S229T |
probably benign |
Het |
| Atp2b2 |
A |
T |
6: 113,742,680 (GRCm39) |
|
probably null |
Het |
| Cd101 |
G |
T |
3: 100,900,989 (GRCm39) |
H1032N |
unknown |
Het |
| Col6a2 |
A |
G |
10: 76,444,540 (GRCm39) |
|
probably null |
Het |
| Crot |
A |
T |
5: 9,026,027 (GRCm39) |
I320K |
possibly damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,772,588 (GRCm39) |
D602E |
probably damaging |
Het |
| Degs1 |
A |
G |
1: 182,107,160 (GRCm39) |
V69A |
probably benign |
Het |
| Dgkz |
A |
G |
2: 91,769,994 (GRCm39) |
S557P |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,405,055 (GRCm39) |
L602Q |
|
Het |
| Gli2 |
A |
T |
1: 118,772,167 (GRCm39) |
Y513N |
probably damaging |
Het |
| H2-Q10 |
A |
G |
17: 35,781,983 (GRCm39) |
T202A |
probably benign |
Het |
| Hnrnpa3 |
A |
G |
2: 75,492,860 (GRCm39) |
N195D |
probably benign |
Het |
| Ifna1 |
C |
T |
4: 88,768,628 (GRCm39) |
T102I |
possibly damaging |
Het |
| Igfbp3 |
T |
A |
11: 7,160,152 (GRCm39) |
H167L |
probably benign |
Het |
| Igfn1 |
T |
C |
1: 135,895,782 (GRCm39) |
T1595A |
probably benign |
Het |
| Krt14 |
A |
G |
11: 100,094,178 (GRCm39) |
V472A |
probably damaging |
Het |
| Lrrc74b |
T |
A |
16: 17,376,089 (GRCm39) |
H187L |
probably benign |
Het |
| Magoh |
T |
G |
4: 107,738,132 (GRCm39) |
V44G |
possibly damaging |
Het |
| Mbnl1 |
A |
T |
3: 60,532,551 (GRCm39) |
I274L |
probably benign |
Het |
| Or13a27 |
T |
G |
7: 139,925,411 (GRCm39) |
M164L |
probably benign |
Het |
| Or4c108 |
C |
T |
2: 88,804,082 (GRCm39) |
R51H |
probably benign |
Het |
| Pdcd1 |
A |
G |
1: 93,967,142 (GRCm39) |
V252A |
probably damaging |
Het |
| Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Plcxd3 |
A |
G |
15: 4,546,317 (GRCm39) |
D107G |
possibly damaging |
Het |
| Polr2m |
T |
A |
9: 71,390,866 (GRCm39) |
D112V |
probably benign |
Het |
| Ptprn |
A |
T |
1: 75,229,796 (GRCm39) |
M701K |
probably damaging |
Het |
| Rxrb |
A |
G |
17: 34,255,879 (GRCm39) |
D421G |
possibly damaging |
Het |
| Slfn4 |
A |
G |
11: 83,078,355 (GRCm39) |
E381G |
probably damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Srgap1 |
A |
G |
10: 121,661,341 (GRCm39) |
I530T |
probably damaging |
Het |
| Stmn4 |
A |
G |
14: 66,595,341 (GRCm39) |
H122R |
probably damaging |
Het |
| Sycp2 |
T |
C |
2: 177,998,427 (GRCm39) |
E1031G |
probably damaging |
Het |
| Tle1 |
T |
C |
4: 72,043,181 (GRCm39) |
T553A |
probably benign |
Het |
| Tnik |
T |
A |
3: 28,609,086 (GRCm39) |
W217R |
unknown |
Het |
| Tyrp1 |
T |
C |
4: 80,769,190 (GRCm39) |
V161A |
unknown |
Het |
| Usp29 |
T |
A |
7: 6,965,406 (GRCm39) |
F416L |
probably benign |
Het |
| Vmn1r119 |
A |
G |
7: 20,745,932 (GRCm39) |
V150A |
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 |
|
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'- CATTTTAATGATACAGCCTTTTGCTT -3'
(R):5'- TGCAAACCACACTTGAGGCAC -3'
Sequencing Primer
(F):5'- AGCTTTCTTAGACATACCAGGGC -3'
(R):5'- TTGAGGCACAACCAAACATCAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation