Incidental Mutation 'R7573:Usp40'
| ID |
586123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp40
|
| Ensembl Gene |
ENSMUSG00000005501 |
| Gene Name |
ubiquitin specific peptidase 40 |
| Synonyms |
B230215L03Rik |
| MMRRC Submission |
045659-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7573 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
87872841-87936273 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87913794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 433
(A433V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040783]
[ENSMUST00000187758]
[ENSMUST00000188332]
|
| AlphaFold |
Q8BWR4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040783
AA Change: A433V
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000038533
Gene: ENSMUSG00000005501
AA Change: A433V
| 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 benign
Transcript: ENSMUST00000187758
AA Change: A433V
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000140107
Gene: ENSMUSG00000005501
AA Change: A433V
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (80/81) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
A |
3: 124,366,917 (GRCm39) |
I49F |
|
Het |
| 1810055G02Rik |
T |
A |
19: 3,765,728 (GRCm39) |
M1K |
probably null |
Het |
| Abcb1b |
G |
A |
5: 8,878,866 (GRCm39) |
C750Y |
possibly damaging |
Het |
| Abi2 |
T |
A |
1: 60,509,867 (GRCm39) |
V412D |
probably benign |
Het |
| Alk |
C |
T |
17: 72,207,787 (GRCm39) |
V983M |
probably damaging |
Het |
| Alppl2 |
A |
T |
1: 87,015,953 (GRCm39) |
W266R |
possibly damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,434,918 (GRCm39) |
R188G |
probably damaging |
Het |
| Atp2c2 |
A |
T |
8: 120,478,008 (GRCm39) |
D695V |
probably damaging |
Het |
| B3gnt4 |
A |
T |
5: 123,648,718 (GRCm39) |
I28L |
probably benign |
Het |
| C2cd3 |
A |
G |
7: 100,068,914 (GRCm39) |
D536G |
|
Het |
| Cacna1c |
A |
G |
6: 118,581,406 (GRCm39) |
S1733P |
|
Het |
| Cacna1e |
T |
C |
1: 154,601,911 (GRCm39) |
|
probably benign |
Het |
| Capns1 |
A |
G |
7: 29,891,960 (GRCm39) |
F101L |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,922,015 (GRCm39) |
T1030A |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,159,329 (GRCm39) |
T2151A |
probably benign |
Het |
| Cenpe |
T |
A |
3: 134,953,220 (GRCm39) |
L1558Q |
probably damaging |
Het |
| Cfap157 |
T |
C |
2: 32,667,520 (GRCm39) |
H521R |
probably benign |
Het |
| Crygs |
T |
A |
16: 22,624,069 (GRCm39) |
*179C |
probably null |
Het |
| Ctsb |
T |
C |
14: 63,375,550 (GRCm39) |
V172A |
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,830,836 (GRCm39) |
T1686A |
probably benign |
Het |
| Cutc |
T |
C |
19: 43,748,382 (GRCm39) |
V95A |
probably benign |
Het |
| Cxcl3 |
A |
G |
5: 90,934,105 (GRCm39) |
T26A |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 66,016,041 (GRCm39) |
V400A |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,107,104 (GRCm39) |
N1139I |
possibly damaging |
Het |
| Fam136a |
G |
A |
6: 86,343,667 (GRCm39) |
E55K |
probably benign |
Het |
| Fam151a |
A |
G |
4: 106,600,502 (GRCm39) |
D179G |
probably damaging |
Het |
| Fam178b |
T |
C |
1: 36,671,533 (GRCm39) |
D196G |
probably damaging |
Het |
| Fut9 |
A |
T |
4: 25,620,691 (GRCm39) |
M41K |
probably benign |
Het |
| Gm9195 |
T |
C |
14: 72,694,122 (GRCm39) |
Q1531R |
probably null |
Het |
| Gpr6 |
A |
T |
10: 40,946,868 (GRCm39) |
V238D |
probably damaging |
Het |
| Hoxa2 |
A |
T |
6: 52,140,283 (GRCm39) |
S234R |
probably benign |
Het |
| Itga4 |
A |
G |
2: 79,103,337 (GRCm39) |
T143A |
probably benign |
Het |
| Kcnq2 |
A |
G |
2: 180,723,382 (GRCm39) |
S693P |
probably benign |
Het |
| Kif13b |
A |
G |
14: 65,041,107 (GRCm39) |
I1732V |
probably benign |
Het |
| Klhl14 |
A |
G |
18: 21,785,211 (GRCm39) |
V72A |
probably benign |
Het |
| Krt1c |
T |
A |
15: 101,722,954 (GRCm39) |
D348V |
probably benign |
Het |
| Map4k2 |
A |
T |
19: 6,394,094 (GRCm39) |
E300D |
probably benign |
Het |
| Mars1 |
A |
G |
10: 127,138,679 (GRCm39) |
|
probably null |
Het |
| Mpo |
A |
G |
11: 87,688,403 (GRCm39) |
D354G |
probably benign |
Het |
| Mrpl15 |
T |
C |
1: 4,847,778 (GRCm39) |
T174A |
probably damaging |
Het |
| Myom2 |
G |
A |
8: 15,172,450 (GRCm39) |
C1183Y |
probably damaging |
Het |
| Nfkb2 |
C |
A |
19: 46,297,082 (GRCm39) |
Q336K |
possibly damaging |
Het |
| Nlrp2 |
A |
G |
7: 5,320,468 (GRCm39) |
|
probably null |
Het |
| Nlrp9b |
T |
C |
7: 19,753,125 (GRCm39) |
L10P |
probably damaging |
Het |
| Nrip2 |
A |
G |
6: 128,377,232 (GRCm39) |
S53G |
probably benign |
Het |
| Or13a22 |
G |
A |
7: 140,072,912 (GRCm39) |
M120I |
probably damaging |
Het |
| Or4k36 |
T |
C |
2: 111,146,277 (GRCm39) |
I151T |
probably benign |
Het |
| Or52a5b |
A |
G |
7: 103,416,677 (GRCm39) |
M309T |
probably benign |
Het |
| Or52z13 |
C |
T |
7: 103,246,735 (GRCm39) |
L71F |
probably benign |
Het |
| Or8b54 |
A |
T |
9: 38,686,791 (GRCm39) |
K80I |
probably damaging |
Het |
| Or8g18 |
C |
T |
9: 39,148,977 (GRCm39) |
V248I |
probably benign |
Het |
| Pak5 |
A |
G |
2: 135,958,225 (GRCm39) |
S288P |
probably damaging |
Het |
| Pjvk |
T |
C |
2: 76,487,809 (GRCm39) |
F234L |
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,358,658 (GRCm39) |
N616D |
probably benign |
Het |
| Pnkp |
C |
T |
7: 44,506,852 (GRCm39) |
R9C |
probably damaging |
Het |
| Prom1 |
A |
G |
5: 44,213,272 (GRCm39) |
C154R |
probably damaging |
Het |
| Rab3gap2 |
T |
A |
1: 185,014,579 (GRCm39) |
W1243R |
probably benign |
Het |
| Rad17 |
C |
T |
13: 100,765,974 (GRCm39) |
A385T |
probably damaging |
Het |
| Rasgrp1 |
T |
C |
2: 117,118,424 (GRCm39) |
I522V |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,349,310 (GRCm39) |
C3804R |
|
Het |
| Ros1 |
T |
A |
10: 52,046,072 (GRCm39) |
T153S |
probably benign |
Het |
| Sema4g |
T |
C |
19: 44,986,010 (GRCm39) |
S284P |
probably damaging |
Het |
| Septin9 |
C |
T |
11: 117,090,571 (GRCm39) |
|
probably benign |
Het |
| Slc2a9 |
T |
C |
5: 38,574,569 (GRCm39) |
S236G |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,398,256 (GRCm39) |
F674L |
probably benign |
Het |
| Slfn5 |
A |
T |
11: 82,849,585 (GRCm39) |
K361N |
probably damaging |
Het |
| Smad6 |
A |
G |
9: 63,929,052 (GRCm39) |
L88S |
unknown |
Het |
| Smarca4 |
T |
A |
9: 21,550,371 (GRCm39) |
|
probably null |
Het |
| Smg7 |
A |
T |
1: 152,735,240 (GRCm39) |
N198K |
probably damaging |
Het |
| Sorcs1 |
G |
A |
19: 50,141,234 (GRCm39) |
Q1166* |
probably null |
Het |
| Stap1 |
A |
G |
5: 86,238,854 (GRCm39) |
N212S |
possibly damaging |
Het |
| Tbx2 |
C |
G |
11: 85,724,138 (GRCm39) |
A69G |
possibly damaging |
Het |
| Tmc1 |
C |
A |
19: 20,884,372 (GRCm39) |
D23Y |
probably damaging |
Het |
| Tmf1 |
A |
T |
6: 97,135,455 (GRCm39) |
D940E |
probably benign |
Het |
| Trim27 |
T |
A |
13: 21,364,770 (GRCm39) |
C36S |
probably damaging |
Het |
| Unc80 |
G |
A |
1: 66,560,696 (GRCm39) |
G808D |
probably damaging |
Het |
| Usp17ld |
G |
T |
7: 102,900,094 (GRCm39) |
Y279* |
probably null |
Het |
| Vmn1r49 |
G |
A |
6: 90,049,843 (GRCm39) |
A53V |
probably benign |
Het |
| Vmn1r84 |
T |
C |
7: 12,095,787 (GRCm39) |
N302S |
probably benign |
Het |
| Wfdc2 |
A |
T |
2: 164,407,741 (GRCm39) |
I137L |
probably benign |
Het |
|
| Other mutations in Usp40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Usp40
|
APN |
1 |
87,931,960 (GRCm39) |
splice site |
probably benign |
|
|
IGL00828:Usp40
|
APN |
1 |
87,906,028 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01090:Usp40
|
APN |
1 |
87,890,187 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01123:Usp40
|
APN |
1 |
87,913,845 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01401:Usp40
|
APN |
1 |
87,921,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02506:Usp40
|
APN |
1 |
87,909,738 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02580:Usp40
|
APN |
1 |
87,908,688 (GRCm39) |
splice site |
probably null |
|
|
IGL02625:Usp40
|
APN |
1 |
87,877,739 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02811:Usp40
|
APN |
1 |
87,923,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02958:Usp40
|
APN |
1 |
87,906,207 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Brink
|
UTSW |
1 |
87,908,755 (GRCm39) |
missense |
probably benign |
0.11 |
|
void
|
UTSW |
1 |
87,923,435 (GRCm39) |
nonsense |
probably null |
|
|
G5030:Usp40
|
UTSW |
1 |
87,921,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0019:Usp40
|
UTSW |
1 |
87,906,133 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0282:Usp40
|
UTSW |
1 |
87,908,680 (GRCm39) |
splice site |
probably benign |
|
|
R0453:Usp40
|
UTSW |
1 |
87,874,320 (GRCm39) |
makesense |
probably null |
|
|
R0646:Usp40
|
UTSW |
1 |
87,906,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1440:Usp40
|
UTSW |
1 |
87,909,808 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1490:Usp40
|
UTSW |
1 |
87,916,687 (GRCm39) |
nonsense |
probably null |
|
|
R1620:Usp40
|
UTSW |
1 |
87,921,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1881:Usp40
|
UTSW |
1 |
87,921,993 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1903:Usp40
|
UTSW |
1 |
87,909,778 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1912:Usp40
|
UTSW |
1 |
87,874,368 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1919:Usp40
|
UTSW |
1 |
87,923,564 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1976:Usp40
|
UTSW |
1 |
87,906,258 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2111:Usp40
|
UTSW |
1 |
87,877,936 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2112:Usp40
|
UTSW |
1 |
87,877,936 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2163:Usp40
|
UTSW |
1 |
87,923,580 (GRCm39) |
splice site |
probably benign |
|
|
R2432:Usp40
|
UTSW |
1 |
87,909,804 (GRCm39) |
missense |
probably benign |
|
|
R2865:Usp40
|
UTSW |
1 |
87,877,701 (GRCm39) |
nonsense |
probably null |
|
|
R3885:Usp40
|
UTSW |
1 |
87,894,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4360:Usp40
|
UTSW |
1 |
87,880,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4370:Usp40
|
UTSW |
1 |
87,925,597 (GRCm39) |
missense |
probably benign |
|
|
R4496:Usp40
|
UTSW |
1 |
87,923,459 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4714:Usp40
|
UTSW |
1 |
87,894,901 (GRCm39) |
splice site |
probably null |
|
|
R4888:Usp40
|
UTSW |
1 |
87,913,923 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4944:Usp40
|
UTSW |
1 |
87,880,077 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5269:Usp40
|
UTSW |
1 |
87,923,504 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5629:Usp40
|
UTSW |
1 |
87,908,731 (GRCm39) |
missense |
probably benign |
|
|
R5696:Usp40
|
UTSW |
1 |
87,923,474 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5756:Usp40
|
UTSW |
1 |
87,879,413 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5887:Usp40
|
UTSW |
1 |
87,927,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5910:Usp40
|
UTSW |
1 |
87,896,122 (GRCm39) |
nonsense |
probably null |
|
|
R6014:Usp40
|
UTSW |
1 |
87,907,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6044:Usp40
|
UTSW |
1 |
87,917,872 (GRCm39) |
missense |
probably benign |
|
|
R6083:Usp40
|
UTSW |
1 |
87,906,281 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6299:Usp40
|
UTSW |
1 |
87,925,649 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6625:Usp40
|
UTSW |
1 |
87,894,935 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6757:Usp40
|
UTSW |
1 |
87,907,759 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6810:Usp40
|
UTSW |
1 |
87,908,755 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7110:Usp40
|
UTSW |
1 |
87,913,884 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7575:Usp40
|
UTSW |
1 |
87,877,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7634:Usp40
|
UTSW |
1 |
87,890,152 (GRCm39) |
nonsense |
probably null |
|
|
R7756:Usp40
|
UTSW |
1 |
87,894,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7767:Usp40
|
UTSW |
1 |
87,909,900 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7861:Usp40
|
UTSW |
1 |
87,909,852 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7881:Usp40
|
UTSW |
1 |
87,923,435 (GRCm39) |
nonsense |
probably null |
|
|
R7896:Usp40
|
UTSW |
1 |
87,906,201 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8119:Usp40
|
UTSW |
1 |
87,895,400 (GRCm39) |
splice site |
probably null |
|
|
R8354:Usp40
|
UTSW |
1 |
87,908,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8358:Usp40
|
UTSW |
1 |
87,908,770 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8425:Usp40
|
UTSW |
1 |
87,887,558 (GRCm39) |
missense |
probably benign |
|
|
R8446:Usp40
|
UTSW |
1 |
87,906,190 (GRCm39) |
missense |
probably benign |
|
|
R8454:Usp40
|
UTSW |
1 |
87,908,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8744:Usp40
|
UTSW |
1 |
87,911,491 (GRCm39) |
missense |
probably benign |
|
|
R9002:Usp40
|
UTSW |
1 |
87,935,063 (GRCm39) |
missense |
probably benign |
|
|
R9033:Usp40
|
UTSW |
1 |
87,923,499 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9210:Usp40
|
UTSW |
1 |
87,885,035 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9245:Usp40
|
UTSW |
1 |
87,878,009 (GRCm39) |
missense |
probably benign |
|
|
R9331:Usp40
|
UTSW |
1 |
87,901,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9378:Usp40
|
UTSW |
1 |
87,885,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9379:Usp40
|
UTSW |
1 |
87,881,889 (GRCm39) |
missense |
probably benign |
|
|
R9501:Usp40
|
UTSW |
1 |
87,925,557 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9535:Usp40
|
UTSW |
1 |
87,935,161 (GRCm39) |
start gained |
probably benign |
|
|
R9537:Usp40
|
UTSW |
1 |
87,935,117 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF006:Usp40
|
UTSW |
1 |
87,894,917 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Z1177:Usp40
|
UTSW |
1 |
87,896,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTTTTCCATACCTTCAGGGG -3'
(R):5'- CAGACAAGCTTTCCTGCTCAC -3'
Sequencing Primer
(F):5'- ATACCTTCAGGGGGCCTTTGTAAC -3'
(R):5'- CACACACACATGCAGAATTTGTCTTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation