Incidental Mutation 'R7896:Usp40'
| ID |
609652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp40
|
| Ensembl Gene |
ENSMUSG00000005501 |
| Gene Name |
ubiquitin specific peptidase 40 |
| Synonyms |
B230215L03Rik |
| MMRRC Submission |
045948-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7896 (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 87906201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 678
(T678I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040783]
[ENSMUST00000187758]
[ENSMUST00000188332]
|
| AlphaFold |
Q8BWR4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040783
AA Change: T678I
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000038533
Gene: ENSMUSG00000005501
AA Change: T678I
| 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 |
possibly damaging
Transcript: ENSMUST00000187758
AA Change: T678I
PolyPhen 2
Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140107
Gene: ENSMUSG00000005501
AA Change: T678I
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189409
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (82/83) |
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
A |
G |
10: 79,840,792 (GRCm39) |
T894A |
probably damaging |
Het |
| Abcc10 |
T |
A |
17: 46,635,235 (GRCm39) |
H256L |
probably benign |
Het |
| Abcc6 |
A |
G |
7: 45,626,803 (GRCm39) |
L1418P |
probably damaging |
Het |
| Actn2 |
G |
A |
13: 12,309,203 (GRCm39) |
A290V |
possibly damaging |
Het |
| Actrt2 |
A |
T |
4: 154,751,652 (GRCm39) |
D161E |
probably benign |
Het |
| Adam19 |
T |
A |
11: 46,028,370 (GRCm39) |
C668S |
probably damaging |
Het |
| Alg8 |
T |
C |
7: 97,040,123 (GRCm39) |
L435S |
probably damaging |
Het |
| Amz2 |
G |
A |
11: 109,327,413 (GRCm39) |
E322K |
possibly damaging |
Het |
| Ankrd12 |
T |
A |
17: 66,292,680 (GRCm39) |
R918* |
probably null |
Het |
| Atp5pb |
A |
G |
3: 105,863,259 (GRCm39) |
I59T |
probably damaging |
Het |
| Bach1 |
T |
A |
16: 87,515,893 (GRCm39) |
C145S |
possibly damaging |
Het |
| Bcl6b |
G |
T |
11: 70,117,848 (GRCm39) |
S309* |
probably null |
Het |
| Birc6 |
G |
T |
17: 74,929,077 (GRCm39) |
R2323L |
probably damaging |
Het |
| Catspere2 |
A |
T |
1: 177,938,740 (GRCm39) |
M538L |
probably benign |
Het |
| Ccdc154 |
A |
T |
17: 25,390,800 (GRCm39) |
M647L |
probably benign |
Het |
| Cdc14a |
T |
C |
3: 116,088,482 (GRCm39) |
T447A |
probably benign |
Het |
| Chst9 |
C |
T |
18: 15,585,846 (GRCm39) |
R239H |
probably damaging |
Het |
| Cs |
C |
T |
10: 128,189,004 (GRCm39) |
A171V |
probably damaging |
Het |
| D3Ertd751e |
T |
A |
3: 41,710,508 (GRCm39) |
F107I |
probably benign |
Het |
| D430041D05Rik |
T |
C |
2: 104,088,385 (GRCm39) |
D197G |
probably benign |
Het |
| Dcdc2c |
G |
A |
12: 28,520,619 (GRCm39) |
Q486* |
probably null |
Het |
| Dolk |
A |
T |
2: 30,175,961 (GRCm39) |
V28E |
possibly damaging |
Het |
| Dpf2 |
C |
T |
19: 5,954,333 (GRCm39) |
S191N |
probably benign |
Het |
| Eml3 |
T |
A |
19: 8,911,171 (GRCm39) |
F267I |
possibly damaging |
Het |
| Entrep2 |
T |
C |
7: 64,426,557 (GRCm39) |
H232R |
probably damaging |
Het |
| Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
| Foxo3 |
T |
C |
10: 42,073,732 (GRCm39) |
S262G |
possibly damaging |
Het |
| Gm1527 |
T |
G |
3: 28,975,742 (GRCm39) |
|
probably null |
Het |
| Gm49380 |
G |
A |
9: 44,024,096 (GRCm39) |
L51F |
probably damaging |
Het |
| Gm9195 |
A |
T |
14: 72,693,178 (GRCm39) |
H1582Q |
unknown |
Het |
| Grip1 |
A |
G |
10: 119,814,450 (GRCm39) |
Q327R |
possibly damaging |
Het |
| Gstt1 |
A |
G |
10: 75,619,976 (GRCm39) |
F207S |
probably damaging |
Het |
| Itsn1 |
G |
A |
16: 91,615,446 (GRCm39) |
R397H |
unknown |
Het |
| Kif16b |
A |
G |
2: 142,675,995 (GRCm39) |
|
probably null |
Het |
| Kif5a |
A |
G |
10: 127,077,873 (GRCm39) |
V407A |
probably benign |
Het |
| Lrrc57 |
C |
A |
2: 120,438,372 (GRCm39) |
D134Y |
probably damaging |
Het |
| Map1a |
A |
G |
2: 121,135,657 (GRCm39) |
T2158A |
probably benign |
Het |
| Mink1 |
A |
G |
11: 70,503,108 (GRCm39) |
N1068S |
possibly damaging |
Het |
| Mmp8 |
A |
T |
9: 7,564,978 (GRCm39) |
I295F |
probably damaging |
Het |
| Muc21 |
G |
A |
17: 35,930,917 (GRCm39) |
P1090S |
unknown |
Het |
| Mup18 |
G |
T |
4: 61,590,925 (GRCm39) |
|
probably null |
Het |
| Myo1h |
G |
T |
5: 114,474,372 (GRCm39) |
|
probably null |
Het |
| Nap1l5 |
C |
T |
6: 58,883,505 (GRCm39) |
G52S |
probably damaging |
Het |
| Npr3 |
A |
G |
15: 11,883,448 (GRCm39) |
F327S |
probably damaging |
Het |
| Nrxn2 |
C |
A |
19: 6,582,083 (GRCm39) |
Q1673K |
possibly damaging |
Het |
| Or13a20 |
G |
T |
7: 140,232,814 (GRCm39) |
L307F |
probably benign |
Het |
| Or2r3 |
T |
A |
6: 42,449,100 (GRCm39) |
D4V |
probably benign |
Het |
| Paf1 |
T |
C |
7: 28,096,072 (GRCm39) |
Y260H |
probably damaging |
Het |
| Pcmtd2 |
T |
C |
2: 181,496,776 (GRCm39) |
I251T |
probably damaging |
Het |
| Pde9a |
C |
T |
17: 31,678,941 (GRCm39) |
Q261* |
probably null |
Het |
| Ppip5k1 |
T |
C |
2: 121,177,811 (GRCm39) |
D332G |
probably damaging |
Het |
| Ppl |
C |
T |
16: 4,906,725 (GRCm39) |
R1190H |
probably damaging |
Het |
| Ppp1r36 |
A |
G |
12: 76,474,923 (GRCm39) |
|
probably null |
Het |
| Pprc1 |
T |
C |
19: 46,049,888 (GRCm39) |
L67P |
unknown |
Het |
| Prkdc |
T |
G |
16: 15,526,767 (GRCm39) |
L1346R |
probably damaging |
Het |
| Prl7c1 |
A |
T |
13: 27,962,070 (GRCm39) |
M79K |
possibly damaging |
Het |
| Ptprb |
C |
T |
10: 116,205,362 (GRCm39) |
|
probably null |
Het |
| R3hdm1 |
T |
A |
1: 128,096,703 (GRCm39) |
|
probably null |
Het |
| Ralgapa1 |
A |
G |
12: 55,744,663 (GRCm39) |
V1276A |
probably benign |
Het |
| Rapsn |
T |
C |
2: 90,875,300 (GRCm39) |
L361P |
probably benign |
Het |
| Rbm22 |
G |
T |
18: 60,702,505 (GRCm39) |
A275S |
probably benign |
Het |
| Rsph3a |
A |
G |
17: 8,164,940 (GRCm39) |
Y100C |
probably damaging |
Het |
| Rsrp1 |
A |
T |
4: 134,651,274 (GRCm39) |
M13L |
unknown |
Het |
| Rtn4 |
T |
G |
11: 29,655,536 (GRCm39) |
D169E |
probably damaging |
Het |
| Setd7 |
C |
A |
3: 51,444,077 (GRCm39) |
|
probably null |
Het |
| Slc38a2 |
A |
G |
15: 96,591,466 (GRCm39) |
I206T |
probably damaging |
Het |
| Slc9a8 |
T |
C |
2: 167,307,278 (GRCm39) |
F321L |
probably benign |
Het |
| Sppl2c |
A |
G |
11: 104,077,956 (GRCm39) |
D252G |
possibly damaging |
Het |
| Srgap1 |
CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC |
CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC |
10: 121,689,458 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,082,397 (GRCm39) |
T117A |
probably damaging |
Het |
| Szt2 |
A |
T |
4: 118,260,110 (GRCm39) |
F79I |
possibly damaging |
Het |
| Tlr3 |
T |
A |
8: 45,850,090 (GRCm39) |
K860* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,625,018 (GRCm39) |
S15187G |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,041,817 (GRCm39) |
V204A |
probably benign |
Het |
| Unc5c |
A |
T |
3: 141,476,922 (GRCm39) |
T363S |
possibly damaging |
Het |
| Vmn1r62 |
A |
T |
7: 5,678,609 (GRCm39) |
T97S |
probably damaging |
Het |
| Vmn1r85 |
T |
A |
7: 12,818,448 (GRCm39) |
H232L |
probably benign |
Het |
| Vmn2r67 |
A |
G |
7: 84,785,920 (GRCm39) |
I695T |
probably damaging |
Het |
| Zfp383 |
C |
A |
7: 29,611,626 (GRCm39) |
D35E |
probably damaging |
Het |
| Zfp65 |
A |
T |
13: 67,877,174 (GRCm39) |
|
probably null |
Het |
| Zfp692 |
A |
G |
11: 58,205,062 (GRCm39) |
K437R |
probably damaging |
Het |
| Zfp831 |
A |
T |
2: 174,488,921 (GRCm39) |
T1199S |
possibly damaging |
Het |
| Zfr |
T |
A |
15: 12,146,463 (GRCm39) |
I338N |
probably 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 |
|
|
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 |
|
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 |
|
|
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'- GCAGGTAAAGGTGCATATACAC -3'
(R):5'- AACGTATGCTTCACTAGTGGTTG -3'
Sequencing Primer
(F):5'- AGGTGCATATACACACACATAAAC -3'
(R):5'- CGTATGCTTCACTAGTGGTTGTATTG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation