Incidental Mutation 'R5696:Usp40'
| ID |
450636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp40
|
| Ensembl Gene |
ENSMUSG00000005501 |
| Gene Name |
ubiquitin specific peptidase 40 |
| Synonyms |
B230215L03Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5696 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
87872841-87936273 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87923474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 266
(T266A)
|
| 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: T266A
PolyPhen 2
Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000038533
Gene: ENSMUSG00000005501
AA Change: T266A
| 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 |
noncoding transcript
Transcript: ENSMUST00000186315
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187758
AA Change: T266A
PolyPhen 2
Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000140107
Gene: ENSMUSG00000005501
AA Change: T266A
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam8 |
G |
A |
7: 139,569,159 (GRCm39) |
R186W |
probably benign |
Het |
| Afg3l2 |
A |
G |
18: 67,540,529 (GRCm39) |
I660T |
probably damaging |
Het |
| Amtn |
T |
A |
5: 88,532,944 (GRCm39) |
Y186* |
probably null |
Het |
| Atosa |
A |
G |
9: 74,917,399 (GRCm39) |
E666G |
probably benign |
Het |
| Atrip |
A |
G |
9: 108,894,569 (GRCm39) |
S453P |
possibly damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,164,813 (GRCm39) |
L840P |
probably damaging |
Het |
| Capn2 |
T |
C |
1: 182,306,165 (GRCm39) |
E527G |
possibly damaging |
Het |
| Caprin2 |
A |
T |
6: 148,779,316 (GRCm39) |
Y164N |
possibly damaging |
Het |
| Ccnh |
T |
A |
13: 85,344,446 (GRCm39) |
|
probably null |
Het |
| Cdon |
G |
T |
9: 35,403,162 (GRCm39) |
V1091F |
possibly damaging |
Het |
| Ceacam14 |
A |
G |
7: 17,548,267 (GRCm39) |
Y119C |
probably damaging |
Het |
| Ces2h |
A |
G |
8: 105,745,611 (GRCm39) |
K445E |
possibly damaging |
Het |
| Cfap46 |
A |
G |
7: 139,191,947 (GRCm39) |
S2357P |
probably damaging |
Het |
| Commd4 |
A |
T |
9: 57,063,499 (GRCm39) |
S86R |
possibly damaging |
Het |
| Cpsf6 |
A |
T |
10: 117,196,934 (GRCm39) |
|
probably benign |
Het |
| Dag1 |
A |
T |
9: 108,086,646 (GRCm39) |
V165E |
probably benign |
Het |
| Dmxl1 |
A |
T |
18: 50,065,008 (GRCm39) |
K2618* |
probably null |
Het |
| Dnah17 |
A |
G |
11: 117,991,882 (GRCm39) |
Y1229H |
probably benign |
Het |
| Endov |
T |
A |
11: 119,382,625 (GRCm39) |
L24Q |
probably damaging |
Het |
| Fap |
C |
T |
2: 62,332,803 (GRCm39) |
V717M |
probably damaging |
Het |
| Fbxl2 |
A |
G |
9: 113,815,546 (GRCm39) |
L239P |
probably damaging |
Het |
| Fbxl5 |
A |
T |
5: 43,916,182 (GRCm39) |
V367D |
possibly damaging |
Het |
| Fkbp10 |
G |
T |
11: 100,314,352 (GRCm39) |
W384L |
probably damaging |
Het |
| Gbp8 |
C |
T |
5: 105,166,682 (GRCm39) |
V216I |
possibly damaging |
Het |
| Gclm |
G |
A |
3: 122,059,936 (GRCm39) |
A239T |
probably benign |
Het |
| Gm11569 |
C |
T |
11: 99,689,556 (GRCm39) |
|
probably benign |
Het |
| Gnas |
C |
A |
2: 174,141,468 (GRCm39) |
|
probably benign |
Het |
| Grb10 |
T |
A |
11: 11,883,566 (GRCm39) |
N508I |
probably benign |
Het |
| Gykl1 |
T |
G |
18: 52,827,267 (GRCm39) |
I158M |
probably benign |
Het |
| Ide |
G |
A |
19: 37,295,420 (GRCm39) |
T214M |
unknown |
Het |
| Il12rb2 |
T |
A |
6: 67,272,262 (GRCm39) |
Q341H |
possibly damaging |
Het |
| Ints1 |
T |
C |
5: 139,740,744 (GRCm39) |
E1946G |
probably benign |
Het |
| Kdelr3 |
T |
C |
15: 79,410,100 (GRCm39) |
|
probably null |
Het |
| Kif1b |
A |
C |
4: 149,358,306 (GRCm39) |
|
probably null |
Het |
| Kri1 |
A |
G |
9: 21,191,533 (GRCm39) |
I320T |
probably damaging |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Lin9 |
T |
C |
1: 180,486,646 (GRCm39) |
S111P |
probably benign |
Het |
| Lpcat2b |
C |
A |
5: 107,580,773 (GRCm39) |
P34Q |
probably damaging |
Het |
| Ltk |
T |
A |
2: 119,590,080 (GRCm39) |
T49S |
probably benign |
Het |
| Map3k9 |
A |
T |
12: 81,780,896 (GRCm39) |
H421Q |
probably benign |
Het |
| Mapkbp1 |
T |
A |
2: 119,852,201 (GRCm39) |
|
probably null |
Het |
| Mcm4 |
A |
G |
16: 15,443,434 (GRCm39) |
S830P |
probably damaging |
Het |
| Nek10 |
T |
A |
14: 14,860,736 (GRCm38) |
|
probably null |
Het |
| Nlrp9b |
A |
T |
7: 19,758,417 (GRCm39) |
R551S |
probably benign |
Het |
| Nol4l |
T |
C |
2: 153,260,026 (GRCm39) |
T143A |
probably damaging |
Het |
| Or1r1 |
T |
C |
11: 73,875,362 (GRCm39) |
H24R |
possibly damaging |
Het |
| Or51g1 |
T |
A |
7: 102,633,748 (GRCm39) |
T208S |
probably benign |
Het |
| Or6z5 |
T |
C |
7: 6,477,742 (GRCm39) |
|
probably null |
Het |
| Or7a39 |
A |
T |
10: 78,715,919 (GRCm39) |
R304S |
probably benign |
Het |
| Pde4dip |
G |
T |
3: 97,616,806 (GRCm39) |
A1812D |
probably damaging |
Het |
| Plekhb1 |
C |
A |
7: 100,305,960 (GRCm39) |
G26C |
probably damaging |
Het |
| Polr1a |
T |
A |
6: 71,906,410 (GRCm39) |
F409I |
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,702,625 (GRCm39) |
M1197K |
probably benign |
Het |
| Qrich2 |
T |
C |
11: 116,335,828 (GRCm39) |
I2114V |
probably damaging |
Het |
| Rbm27 |
T |
C |
18: 42,450,731 (GRCm39) |
Y449H |
probably damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,267,195 (GRCm39) |
D927G |
probably damaging |
Het |
| Secisbp2 |
C |
A |
13: 51,833,857 (GRCm39) |
Q666K |
probably damaging |
Het |
| Slc45a2 |
T |
C |
15: 11,001,219 (GRCm39) |
I106T |
probably damaging |
Het |
| Slx4 |
G |
T |
16: 3,797,831 (GRCm39) |
Q1518K |
probably damaging |
Het |
| Smim10l1 |
T |
C |
6: 133,082,489 (GRCm39) |
F12S |
probably damaging |
Het |
| Son |
T |
C |
16: 91,468,301 (GRCm39) |
V306A |
possibly damaging |
Het |
| Stab1 |
A |
G |
14: 30,882,178 (GRCm39) |
S506P |
probably benign |
Het |
| Syne2 |
A |
C |
12: 76,040,919 (GRCm39) |
D3859A |
probably benign |
Het |
| Tab1 |
T |
A |
15: 80,032,930 (GRCm39) |
Y71* |
probably null |
Het |
| Tarbp1 |
A |
C |
8: 127,174,079 (GRCm39) |
M909R |
probably damaging |
Het |
| Tex15 |
T |
G |
8: 34,063,220 (GRCm39) |
S1157R |
probably benign |
Het |
| Tnni3 |
G |
A |
7: 4,523,453 (GRCm39) |
T120I |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,747,888 (GRCm39) |
E4387G |
probably benign |
Het |
| Ugt3a1 |
G |
A |
15: 9,361,534 (GRCm39) |
|
silent |
Het |
| Unc5d |
T |
C |
8: 29,156,870 (GRCm39) |
I783V |
probably benign |
Het |
| Vmn2r59 |
C |
T |
7: 41,695,468 (GRCm39) |
V315I |
probably benign |
Het |
| Zbtb48 |
G |
T |
4: 152,105,067 (GRCm39) |
H532N |
probably damaging |
Het |
| Zfp1005 |
C |
T |
2: 150,111,394 (GRCm39) |
H695Y |
possibly damaging |
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 |
|
|
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 |
|
R7573:Usp40
|
UTSW |
1 |
87,913,794 (GRCm39) |
missense |
probably benign |
0.09 |
|
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'- CTCAGTGGAGTAGGAATGCG -3'
(R):5'- AACCACACAATACTATTCTTAGTTCCA -3'
Sequencing Primer
(F):5'- TCAGTGGAGTAGGAATGCGTATGC -3'
(R):5'- CATGGAGGCATTTTCCCAACTGAAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation