Incidental Mutation 'R7756:Usp40'
| ID |
597530 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp40
|
| Ensembl Gene |
ENSMUSG00000005501 |
| Gene Name |
ubiquitin specific peptidase 40 |
| Synonyms |
B230215L03Rik |
| MMRRC Submission |
045812-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7756 (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 T
at 87894922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 866
(T866K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040783]
[ENSMUST00000187758]
[ENSMUST00000188332]
|
| AlphaFold |
Q8BWR4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040783
|
| SMART Domains |
Protein: ENSMUSP00000038533
Gene: ENSMUSG00000005501
| 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: T866K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140107
Gene: ENSMUSG00000005501
AA Change: T866K
| 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
|
| Meta Mutation Damage Score |
0.4338 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (48/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd60 |
T |
C |
2: 173,410,562 (GRCm39) |
*319W |
probably null |
Het |
| Bpnt2 |
A |
T |
4: 4,769,385 (GRCm39) |
H243Q |
probably damaging |
Het |
| Brd4 |
A |
G |
17: 32,417,956 (GRCm39) |
I1157T |
unknown |
Het |
| Btbd2 |
T |
C |
10: 80,484,440 (GRCm39) |
I159V |
probably benign |
Het |
| Card6 |
G |
A |
15: 5,129,378 (GRCm39) |
Q673* |
probably null |
Het |
| Cdyl |
T |
A |
13: 36,056,624 (GRCm39) |
Y585N |
probably damaging |
Het |
| Cep192 |
A |
C |
18: 67,989,384 (GRCm39) |
I1844L |
possibly damaging |
Het |
| Cfap99 |
G |
T |
5: 34,459,952 (GRCm39) |
C105F |
probably damaging |
Het |
| Clcn6 |
T |
C |
4: 148,113,896 (GRCm39) |
D54G |
probably damaging |
Het |
| Dennd5a |
T |
C |
7: 109,520,714 (GRCm39) |
N381S |
possibly damaging |
Het |
| Disp1 |
A |
C |
1: 182,871,298 (GRCm39) |
V374G |
probably damaging |
Het |
| Dock4 |
C |
T |
12: 40,760,878 (GRCm39) |
T522I |
probably benign |
Het |
| Fcer1a |
A |
G |
1: 173,049,142 (GRCm39) |
L223P |
probably damaging |
Het |
| Fstl4 |
C |
A |
11: 53,059,123 (GRCm39) |
D527E |
possibly damaging |
Het |
| Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
| Gm5460 |
A |
T |
14: 33,757,114 (GRCm39) |
T64S |
probably benign |
Het |
| Gys1 |
T |
C |
7: 45,097,726 (GRCm39) |
V491A |
probably benign |
Het |
| Hoxa9 |
A |
T |
6: 52,202,542 (GRCm39) |
N181K |
probably benign |
Het |
| Ift81 |
A |
T |
5: 122,689,088 (GRCm39) |
L676H |
probably damaging |
Het |
| Inava |
A |
G |
1: 136,144,171 (GRCm39) |
S422P |
probably benign |
Het |
| Itga1 |
T |
A |
13: 115,128,996 (GRCm39) |
D554V |
probably benign |
Het |
| Lin7c |
T |
A |
2: 109,726,717 (GRCm39) |
I122K |
probably damaging |
Het |
| Malt1 |
A |
G |
18: 65,606,190 (GRCm39) |
I622V |
probably benign |
Het |
| Megf8 |
T |
C |
7: 25,041,850 (GRCm39) |
|
probably null |
Het |
| Morc2b |
A |
G |
17: 33,355,981 (GRCm39) |
V597A |
probably damaging |
Het |
| Nr1h5 |
T |
C |
3: 102,856,925 (GRCm39) |
I196V |
probably benign |
Het |
| Or10d4 |
T |
C |
9: 39,580,371 (GRCm39) |
M6T |
probably benign |
Het |
| Or2a20 |
T |
A |
6: 43,193,950 (GRCm39) |
Y34* |
probably null |
Het |
| Or8g2 |
T |
G |
9: 39,821,621 (GRCm39) |
I174S |
possibly damaging |
Het |
| Pdlim1 |
G |
A |
19: 40,231,986 (GRCm39) |
P131S |
probably benign |
Het |
| Plekhh1 |
T |
C |
12: 79,117,578 (GRCm39) |
I858T |
probably benign |
Het |
| Pls1 |
T |
C |
9: 95,658,897 (GRCm39) |
N197S |
probably benign |
Het |
| Pnma8a |
A |
T |
7: 16,695,224 (GRCm39) |
T360S |
probably benign |
Het |
| Pon1 |
A |
T |
6: 5,168,344 (GRCm39) |
D354E |
probably benign |
Het |
| Rbp3 |
G |
A |
14: 33,676,732 (GRCm39) |
V227M |
probably benign |
Het |
| Shcbp1 |
T |
C |
8: 4,794,545 (GRCm39) |
K416R |
probably damaging |
Het |
| Slc20a2 |
T |
G |
8: 23,025,508 (GRCm39) |
I70S |
probably damaging |
Het |
| Slc7a11 |
A |
G |
3: 50,326,809 (GRCm39) |
I484T |
probably benign |
Het |
| Snrpa |
A |
G |
7: 26,892,371 (GRCm39) |
V63A |
possibly damaging |
Het |
| Stat2 |
CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC |
CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC |
10: 128,126,597 (GRCm39) |
|
probably benign |
Het |
| Strc |
T |
C |
2: 121,201,427 (GRCm39) |
E1259G |
probably benign |
Het |
| Suds3 |
T |
G |
5: 117,253,802 (GRCm39) |
D26A |
unknown |
Het |
| Tnrc18 |
A |
G |
5: 142,772,907 (GRCm39) |
S641P |
|
Het |
| Tspan32 |
A |
G |
7: 142,570,959 (GRCm39) |
N189D |
probably benign |
Het |
| Unc13b |
CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
4: 43,177,312 (GRCm39) |
|
probably benign |
Het |
| Vmn1r220 |
G |
A |
13: 23,367,877 (GRCm39) |
T273I |
probably benign |
Het |
| Yes1 |
C |
T |
5: 32,842,024 (GRCm39) |
T516I |
probably damaging |
Het |
| Zbtb4 |
A |
G |
11: 69,669,368 (GRCm39) |
E697G |
probably benign |
Het |
| Zfp994 |
T |
C |
17: 22,419,828 (GRCm39) |
T374A |
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 |
|
|
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 |
|
|
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'- GCTCACATTTCTGTAGCATTATCGATC -3'
(R):5'- ACTTCCTCTCAGGTACACTACG -3'
Sequencing Primer
(F):5'- GTAGCATTATCGATCATCAGAAAAGC -3'
(R):5'- TCAGGTACACTACGGCCCAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation