Incidental Mutation 'R7861:Usp40'
| ID |
607474 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp40
|
| Ensembl Gene |
ENSMUSG00000005501 |
| Gene Name |
ubiquitin specific peptidase 40 |
| Synonyms |
B230215L03Rik |
| MMRRC Submission |
045914-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7861 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
87945119-88008551 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 87982130 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 534
(G534D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040783]
[ENSMUST00000187758]
[ENSMUST00000188332]
|
| AlphaFold |
Q8BWR4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040783
AA Change: G534D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000038533
Gene: ENSMUSG00000005501
AA Change: G534D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
40 |
344 |
1.1e-31 |
PFAM |
|
Pfam:UCH_1
|
41 |
320 |
1.2e-20 |
PFAM |
|
low complexity region
|
641 |
650 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187758
AA Change: G534D
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140107
Gene: ENSMUSG00000005501
AA Change: G534D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
40 |
346 |
8.7e-41 |
PFAM |
|
Pfam:UCH_1
|
41 |
319 |
2.4e-22 |
PFAM |
|
low complexity region
|
641 |
650 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188332
|
| SMART Domains |
Protein: ENSMUSP00000140574
Gene: ENSMUSG00000005501
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
40 |
70 |
5.9e-6 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
All alleles(4) : Targeted, other(2) Gene trapped(2) |
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700016H13Rik |
T |
A |
5: 103,649,494 (GRCm38) |
I50F |
possibly damaging |
Het |
| Abcc3 |
T |
C |
11: 94,357,249 (GRCm38) |
D1175G |
probably null |
Het |
| Accs |
C |
A |
2: 93,835,732 (GRCm38) |
*503L |
probably null |
Het |
| Adgra2 |
A |
G |
8: 27,114,457 (GRCm38) |
E520G |
probably damaging |
Het |
| Aldh7a1 |
C |
A |
18: 56,548,453 (GRCm38) |
C215F |
probably benign |
Het |
| Apbb1ip |
A |
C |
2: 22,816,978 (GRCm38) |
D9A |
unknown |
Het |
| Atad2 |
G |
A |
15: 58,125,780 (GRCm38) |
A228V |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,788,359 (GRCm38) |
S430P |
probably damaging |
Het |
| Atp1a3 |
T |
C |
7: 25,001,148 (GRCm38) |
D6G |
unknown |
Het |
| Brca1 |
A |
T |
11: 101,526,422 (GRCm38) |
N295K |
possibly damaging |
Het |
| Caly |
C |
A |
7: 140,081,388 (GRCm38) |
|
probably benign |
Het |
| Ces1h |
A |
G |
8: 93,357,425 (GRCm38) |
Y386H |
unknown |
Het |
| Col14a1 |
A |
G |
15: 55,444,616 (GRCm38) |
D1044G |
unknown |
Het |
| Csf2rb |
A |
G |
15: 78,349,157 (GRCm38) |
D888G |
probably damaging |
Het |
| Cux1 |
T |
C |
5: 136,252,604 (GRCm38) |
E568G |
possibly damaging |
Het |
| Cyhr1 |
C |
T |
15: 76,648,186 (GRCm38) |
D241N |
probably benign |
Het |
| Dhrs7b |
T |
A |
11: 60,855,742 (GRCm38) |
L219Q |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,245,212 (GRCm38) |
P80L |
probably damaging |
Het |
| Dnah14 |
C |
T |
1: 181,616,759 (GRCm38) |
P545S |
probably damaging |
Het |
| Dnajc24 |
A |
T |
2: 106,002,035 (GRCm38) |
M1K |
probably null |
Het |
| Dusp12 |
C |
T |
1: 170,874,526 (GRCm38) |
W301* |
probably null |
Het |
| Dyrk1a |
G |
T |
16: 94,691,716 (GRCm38) |
G603* |
probably null |
Het |
| Eif4g1 |
T |
A |
16: 20,679,702 (GRCm38) |
V403E |
probably benign |
Het |
| Epn3 |
T |
C |
11: 94,496,274 (GRCm38) |
E90G |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,805,910 (GRCm38) |
S1303G |
probably benign |
Het |
| Evpl |
A |
T |
11: 116,228,069 (GRCm38) |
Y627N |
probably damaging |
Het |
| Fbxw25 |
A |
T |
9: 109,664,557 (GRCm38) |
L22* |
probably null |
Het |
| Fcamr |
T |
A |
1: 130,814,638 (GRCm38) |
N587K |
probably benign |
Het |
| Fgd6 |
A |
G |
10: 94,103,331 (GRCm38) |
N946S |
probably benign |
Het |
| Fndc3b |
A |
T |
3: 27,468,999 (GRCm38) |
I477N |
possibly damaging |
Het |
| Grifin |
C |
T |
5: 140,564,525 (GRCm38) |
A54T |
probably benign |
Het |
| Gtf2b |
A |
G |
3: 142,781,344 (GRCm38) |
I180M |
probably damaging |
Het |
| Invs |
A |
T |
4: 48,397,559 (GRCm38) |
D378V |
possibly damaging |
Het |
| Itgb6 |
T |
C |
2: 60,628,444 (GRCm38) |
E378G |
probably damaging |
Het |
| Khdc1a |
T |
C |
1: 21,350,399 (GRCm38) |
I81T |
possibly damaging |
Het |
| Kif20b |
T |
A |
19: 34,939,922 (GRCm38) |
D617E |
probably damaging |
Het |
| Kifc3 |
T |
A |
8: 95,107,537 (GRCm38) |
|
probably null |
Het |
| Kirrel3 |
C |
T |
9: 35,020,123 (GRCm38) |
H403Y |
possibly damaging |
Het |
| Klf15 |
G |
A |
6: 90,466,838 (GRCm38) |
V132I |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,818,734 (GRCm38) |
S3429P |
unknown |
Het |
| Lama1 |
T |
G |
17: 67,809,221 (GRCm38) |
L2361R |
|
Het |
| Lrp1b |
T |
C |
2: 40,697,558 (GRCm38) |
D3895G |
|
Het |
| Mcoln3 |
A |
C |
3: 146,124,791 (GRCm38) |
E92A |
possibly damaging |
Het |
| Myo3b |
T |
C |
2: 70,108,688 (GRCm38) |
M135T |
probably damaging |
Het |
| Mysm1 |
A |
G |
4: 94,946,967 (GRCm38) |
*820Q |
probably null |
Het |
| Ncoa7 |
A |
G |
10: 30,691,060 (GRCm38) |
S541P |
probably benign |
Het |
| Nup54 |
T |
C |
5: 92,431,093 (GRCm38) |
T33A |
unknown |
Het |
| Olfr118 |
C |
A |
17: 37,672,517 (GRCm38) |
Q165K |
possibly damaging |
Het |
| Olfr1290 |
T |
A |
2: 111,490,024 (GRCm38) |
I45F |
probably damaging |
Het |
| Olfr1496 |
T |
C |
19: 13,781,446 (GRCm38) |
V276A |
possibly damaging |
Het |
| Olfr45 |
T |
G |
7: 140,691,571 (GRCm38) |
I222S |
probably damaging |
Het |
| Olfr586 |
T |
A |
7: 103,122,692 (GRCm38) |
I27F |
probably benign |
Het |
| Otud6b |
A |
G |
4: 14,826,414 (GRCm38) |
C18R |
probably benign |
Het |
| Pde4d |
A |
G |
13: 109,935,324 (GRCm38) |
E284G |
probably damaging |
Het |
| Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm38) |
|
probably benign |
Het |
| Pidd1 |
C |
A |
7: 141,440,142 (GRCm38) |
W598L |
probably damaging |
Het |
| Pira2 |
A |
T |
7: 3,844,544 (GRCm38) |
C49S |
probably damaging |
Het |
| Pramef6 |
T |
C |
4: 143,897,718 (GRCm38) |
M70V |
possibly damaging |
Het |
| Prdx1 |
T |
G |
4: 116,693,738 (GRCm38) |
D135E |
probably benign |
Het |
| Rab15 |
T |
A |
12: 76,803,129 (GRCm38) |
Y88F |
probably damaging |
Het |
| Rem2 |
C |
A |
14: 54,477,799 (GRCm38) |
H144Q |
probably damaging |
Het |
| Sel1l3 |
T |
C |
5: 53,144,064 (GRCm38) |
D737G |
probably damaging |
Het |
| Srd5a3 |
C |
T |
5: 76,147,819 (GRCm38) |
Q119* |
probably null |
Het |
| Suclg2 |
G |
T |
6: 95,594,722 (GRCm38) |
Q120K |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,625,431 (GRCm38) |
M1282K |
probably benign |
Het |
| Tbc1d5 |
T |
A |
17: 50,756,692 (GRCm38) |
Q620L |
probably damaging |
Het |
| Tdrd3 |
G |
T |
14: 87,472,154 (GRCm38) |
A91S |
probably damaging |
Het |
| Thsd7b |
T |
A |
1: 130,159,698 (GRCm38) |
F1184Y |
probably benign |
Het |
| Trim28 |
T |
A |
7: 13,028,412 (GRCm38) |
V321E |
possibly damaging |
Het |
| Trim5 |
C |
A |
7: 104,266,468 (GRCm38) |
|
probably null |
Het |
| Ugt2b37 |
A |
T |
5: 87,242,440 (GRCm38) |
Y382* |
probably null |
Het |
| Usp53 |
A |
T |
3: 122,934,463 (GRCm38) |
H823Q |
probably benign |
Het |
| Vmn2r12 |
T |
A |
5: 109,087,963 (GRCm38) |
M508L |
probably benign |
Het |
| Vmn2r56 |
T |
A |
7: 12,715,424 (GRCm38) |
I296F |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,655,304 (GRCm38) |
S2563G |
probably damaging |
Het |
| Wdr59 |
A |
G |
8: 111,494,280 (GRCm38) |
F207L |
|
Het |
| Zan |
A |
G |
5: 137,407,033 (GRCm38) |
S3777P |
unknown |
Het |
| Zfp277 |
T |
C |
12: 40,315,881 (GRCm38) |
N530D |
possibly damaging |
Het |
| Zfp365 |
G |
A |
10: 67,909,919 (GRCm38) |
R10W |
probably damaging |
Het |
| Zfp384 |
A |
T |
6: 125,036,325 (GRCm38) |
H452L |
probably damaging |
Het |
| Zfyve28 |
A |
T |
5: 34,217,143 (GRCm38) |
L509Q |
probably damaging |
Het |
|
| Other mutations in Usp40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Usp40
|
APN |
1 |
88,004,238 (GRCm38) |
splice site |
probably benign |
|
|
IGL00828:Usp40
|
APN |
1 |
87,978,306 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01090:Usp40
|
APN |
1 |
87,962,465 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01123:Usp40
|
APN |
1 |
87,986,123 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01401:Usp40
|
APN |
1 |
87,994,198 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02506:Usp40
|
APN |
1 |
87,982,016 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02580:Usp40
|
APN |
1 |
87,980,966 (GRCm38) |
splice site |
probably null |
|
|
IGL02625:Usp40
|
APN |
1 |
87,950,017 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL02811:Usp40
|
APN |
1 |
87,995,736 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02958:Usp40
|
APN |
1 |
87,978,485 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Brink
|
UTSW |
1 |
87,981,033 (GRCm38) |
missense |
probably benign |
0.11 |
|
void
|
UTSW |
1 |
87,995,713 (GRCm38) |
nonsense |
probably null |
|
|
G5030:Usp40
|
UTSW |
1 |
87,994,219 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0019:Usp40
|
UTSW |
1 |
87,978,411 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0282:Usp40
|
UTSW |
1 |
87,980,958 (GRCm38) |
splice site |
probably benign |
|
|
R0453:Usp40
|
UTSW |
1 |
87,946,598 (GRCm38) |
makesense |
probably null |
|
|
R0646:Usp40
|
UTSW |
1 |
87,978,522 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1440:Usp40
|
UTSW |
1 |
87,982,086 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1490:Usp40
|
UTSW |
1 |
87,988,965 (GRCm38) |
nonsense |
probably null |
|
|
R1620:Usp40
|
UTSW |
1 |
87,994,225 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1881:Usp40
|
UTSW |
1 |
87,994,271 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1903:Usp40
|
UTSW |
1 |
87,982,056 (GRCm38) |
missense |
probably benign |
0.15 |
|
R1912:Usp40
|
UTSW |
1 |
87,946,646 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1919:Usp40
|
UTSW |
1 |
87,995,842 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R1976:Usp40
|
UTSW |
1 |
87,978,536 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2111:Usp40
|
UTSW |
1 |
87,950,214 (GRCm38) |
missense |
probably benign |
0.17 |
|
R2112:Usp40
|
UTSW |
1 |
87,950,214 (GRCm38) |
missense |
probably benign |
0.17 |
|
R2163:Usp40
|
UTSW |
1 |
87,995,858 (GRCm38) |
splice site |
probably benign |
|
|
R2432:Usp40
|
UTSW |
1 |
87,982,082 (GRCm38) |
missense |
probably benign |
|
|
R2865:Usp40
|
UTSW |
1 |
87,949,979 (GRCm38) |
nonsense |
probably null |
|
|
R3885:Usp40
|
UTSW |
1 |
87,967,269 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4360:Usp40
|
UTSW |
1 |
87,952,361 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4370:Usp40
|
UTSW |
1 |
87,997,875 (GRCm38) |
missense |
probably benign |
|
|
R4496:Usp40
|
UTSW |
1 |
87,995,737 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R4714:Usp40
|
UTSW |
1 |
87,967,179 (GRCm38) |
splice site |
probably null |
|
|
R4888:Usp40
|
UTSW |
1 |
87,986,201 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4944:Usp40
|
UTSW |
1 |
87,952,355 (GRCm38) |
missense |
probably benign |
0.10 |
|
R5269:Usp40
|
UTSW |
1 |
87,995,782 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5629:Usp40
|
UTSW |
1 |
87,981,009 (GRCm38) |
missense |
probably benign |
|
|
R5696:Usp40
|
UTSW |
1 |
87,995,752 (GRCm38) |
missense |
probably benign |
0.27 |
|
R5756:Usp40
|
UTSW |
1 |
87,951,691 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R5887:Usp40
|
UTSW |
1 |
87,999,870 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5910:Usp40
|
UTSW |
1 |
87,968,400 (GRCm38) |
nonsense |
probably null |
|
|
R6014:Usp40
|
UTSW |
1 |
87,980,016 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6044:Usp40
|
UTSW |
1 |
87,990,150 (GRCm38) |
missense |
probably benign |
|
|
R6083:Usp40
|
UTSW |
1 |
87,978,559 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6299:Usp40
|
UTSW |
1 |
87,997,927 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6625:Usp40
|
UTSW |
1 |
87,967,213 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6757:Usp40
|
UTSW |
1 |
87,980,037 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6810:Usp40
|
UTSW |
1 |
87,981,033 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7110:Usp40
|
UTSW |
1 |
87,986,162 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7573:Usp40
|
UTSW |
1 |
87,986,072 (GRCm38) |
missense |
probably benign |
0.09 |
|
R7575:Usp40
|
UTSW |
1 |
87,949,960 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7634:Usp40
|
UTSW |
1 |
87,962,430 (GRCm38) |
nonsense |
probably null |
|
|
R7756:Usp40
|
UTSW |
1 |
87,967,200 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7767:Usp40
|
UTSW |
1 |
87,982,178 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7881:Usp40
|
UTSW |
1 |
87,995,713 (GRCm38) |
nonsense |
probably null |
|
|
R7896:Usp40
|
UTSW |
1 |
87,978,479 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R8119:Usp40
|
UTSW |
1 |
87,967,678 (GRCm38) |
splice site |
probably null |
|
|
R8354:Usp40
|
UTSW |
1 |
87,980,972 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8358:Usp40
|
UTSW |
1 |
87,981,048 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R8425:Usp40
|
UTSW |
1 |
87,959,836 (GRCm38) |
missense |
probably benign |
|
|
R8446:Usp40
|
UTSW |
1 |
87,978,468 (GRCm38) |
missense |
probably benign |
|
|
R8454:Usp40
|
UTSW |
1 |
87,980,972 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8744:Usp40
|
UTSW |
1 |
87,983,769 (GRCm38) |
missense |
probably benign |
|
|
R9002:Usp40
|
UTSW |
1 |
88,007,341 (GRCm38) |
missense |
probably benign |
|
|
R9033:Usp40
|
UTSW |
1 |
87,995,777 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R9210:Usp40
|
UTSW |
1 |
87,957,313 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9245:Usp40
|
UTSW |
1 |
87,950,287 (GRCm38) |
missense |
probably benign |
|
|
R9331:Usp40
|
UTSW |
1 |
87,974,106 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9378:Usp40
|
UTSW |
1 |
87,957,310 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9379:Usp40
|
UTSW |
1 |
87,954,167 (GRCm38) |
missense |
probably benign |
|
|
R9501:Usp40
|
UTSW |
1 |
87,997,835 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9535:Usp40
|
UTSW |
1 |
88,007,439 (GRCm38) |
start gained |
probably benign |
|
|
R9537:Usp40
|
UTSW |
1 |
88,007,395 (GRCm38) |
missense |
probably benign |
0.01 |
|
RF006:Usp40
|
UTSW |
1 |
87,967,195 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
Z1177:Usp40
|
UTSW |
1 |
87,968,414 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGATTCTAGAGCACCTGC -3'
(R):5'- CTTACACGCATGATAAGGTGAATG -3'
Sequencing Primer
(F):5'- CTACTGAAGCATAGATTACACGTTTC -3'
(R):5'- CACGCATGATAAGGTGAATGGTTTTG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation