Incidental Mutation 'R0282:Usp40'
| ID |
158526 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp40
|
| Ensembl Gene |
ENSMUSG00000005501 |
| Gene Name |
ubiquitin specific peptidase 40 |
| Synonyms |
B230215L03Rik |
| MMRRC Submission |
038504-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0282 (G1)
|
| Quality Score |
80 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
87872841-87936273 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 87908680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140574
(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 |
noncoding transcript
Transcript: ENSMUST00000186315
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187758
|
| SMART Domains |
Protein: ENSMUSP00000140107
Gene: ENSMUSG00000005501
| 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: 98.4%
- 10x: 96.6%
- 20x: 93.7%
|
| Validation Efficiency |
100% (72/72) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
| Afap1l2 |
A |
G |
19: 56,904,653 (GRCm39) |
S549P |
possibly damaging |
Het |
| Alcam |
A |
T |
16: 52,116,104 (GRCm39) |
C157S |
probably damaging |
Het |
| Aldh1a1 |
T |
C |
19: 20,606,413 (GRCm39) |
|
probably benign |
Het |
| Ano8 |
G |
A |
8: 71,933,258 (GRCm39) |
|
probably benign |
Het |
| Atr |
T |
C |
9: 95,744,851 (GRCm39) |
V56A |
probably benign |
Het |
| Aurkc |
T |
A |
7: 7,005,427 (GRCm39) |
|
probably null |
Het |
| Bnip3 |
T |
C |
7: 138,499,759 (GRCm39) |
D76G |
probably damaging |
Het |
| Cbr1 |
A |
G |
16: 93,407,022 (GRCm39) |
E246G |
possibly damaging |
Het |
| Ccdc157 |
G |
T |
11: 4,096,708 (GRCm39) |
A449D |
probably damaging |
Het |
| Ces3b |
T |
A |
8: 105,810,483 (GRCm39) |
V26D |
probably benign |
Het |
| Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
| Crk |
G |
T |
11: 75,594,195 (GRCm39) |
G261C |
probably damaging |
Het |
| Ctbp1 |
A |
G |
5: 33,408,200 (GRCm39) |
|
probably null |
Het |
| Ctnna1 |
G |
A |
18: 35,377,175 (GRCm39) |
V572I |
possibly damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,031,589 (GRCm39) |
Y1669C |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,955,130 (GRCm39) |
F2053S |
probably damaging |
Het |
| Dner |
G |
A |
1: 84,383,686 (GRCm39) |
T566M |
probably damaging |
Het |
| Dner |
A |
G |
1: 84,423,101 (GRCm39) |
|
probably benign |
Het |
| Edrf1 |
T |
C |
7: 133,245,751 (GRCm39) |
V223A |
probably benign |
Het |
| Fam169a |
A |
G |
13: 97,234,223 (GRCm39) |
|
probably benign |
Het |
| Fbxl3 |
G |
A |
14: 103,332,661 (GRCm39) |
H106Y |
probably damaging |
Het |
| Fiz1 |
A |
G |
7: 5,012,200 (GRCm39) |
V106A |
probably benign |
Het |
| Gapvd1 |
T |
A |
2: 34,578,972 (GRCm39) |
R654* |
probably null |
Het |
| Gm7589 |
G |
A |
9: 59,053,288 (GRCm39) |
|
noncoding transcript |
Het |
| Ifi202b |
A |
T |
1: 173,804,926 (GRCm39) |
S9T |
probably benign |
Het |
| Ipmk |
G |
C |
10: 71,208,661 (GRCm39) |
S149T |
probably benign |
Het |
| Irgm2 |
A |
G |
11: 58,110,345 (GRCm39) |
E24G |
probably benign |
Het |
| Itga2b |
A |
C |
11: 102,351,672 (GRCm39) |
V551G |
probably damaging |
Het |
| Itgad |
C |
T |
7: 127,789,150 (GRCm39) |
|
probably benign |
Het |
| Kcnh8 |
T |
A |
17: 53,032,879 (GRCm39) |
F55L |
probably damaging |
Het |
| Kdr |
G |
A |
5: 76,110,760 (GRCm39) |
|
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,986,573 (GRCm39) |
Y147C |
probably damaging |
Het |
| Lamc1 |
A |
G |
1: 153,131,058 (GRCm39) |
F298L |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,662,617 (GRCm39) |
|
probably benign |
Het |
| Matn1 |
T |
C |
4: 130,673,238 (GRCm39) |
S69P |
probably damaging |
Het |
| Micall1 |
G |
T |
15: 79,016,101 (GRCm39) |
|
probably benign |
Het |
| Msto1 |
A |
G |
3: 88,818,884 (GRCm39) |
V257A |
possibly damaging |
Het |
| Mybpc3 |
G |
C |
2: 90,954,369 (GRCm39) |
|
probably benign |
Het |
| Mycn |
A |
G |
12: 12,987,314 (GRCm39) |
V361A |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,793,253 (GRCm39) |
T1277A |
probably damaging |
Het |
| Myo3a |
T |
C |
2: 22,250,409 (GRCm39) |
I92T |
probably benign |
Het |
| Nup50l |
T |
C |
6: 96,141,797 (GRCm39) |
T416A |
probably benign |
Het |
| Or10g1 |
A |
G |
14: 52,647,720 (GRCm39) |
V203A |
possibly damaging |
Het |
| Or2k2 |
A |
G |
4: 58,785,344 (GRCm39) |
I126T |
probably damaging |
Het |
| Or4c104 |
G |
A |
2: 88,586,800 (GRCm39) |
T73I |
probably damaging |
Het |
| Or56b1b |
T |
A |
7: 108,164,684 (GRCm39) |
Q106L |
probably damaging |
Het |
| Otog |
C |
T |
7: 45,926,917 (GRCm39) |
T1222I |
possibly damaging |
Het |
| P4ha1 |
C |
T |
10: 59,172,970 (GRCm39) |
T23M |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,132,422 (GRCm39) |
I537F |
probably benign |
Het |
| Plekhn1 |
A |
G |
4: 156,312,780 (GRCm39) |
|
probably benign |
Het |
| Pxdn |
C |
A |
12: 30,034,439 (GRCm39) |
S8* |
probably null |
Het |
| Rnf135 |
A |
T |
11: 80,084,784 (GRCm39) |
I186F |
probably damaging |
Het |
| Rock2 |
T |
C |
12: 17,027,887 (GRCm39) |
|
probably benign |
Het |
| Rph3a |
C |
A |
5: 121,101,973 (GRCm39) |
G88* |
probably null |
Het |
| Sarm1 |
G |
A |
11: 78,365,806 (GRCm39) |
Q740* |
probably null |
Het |
| Setd1b |
C |
A |
5: 123,299,080 (GRCm39) |
|
probably benign |
Het |
| Sidt1 |
A |
G |
16: 44,102,249 (GRCm39) |
S304P |
possibly damaging |
Het |
| Slc2a4 |
A |
T |
11: 69,837,181 (GRCm39) |
V85E |
probably damaging |
Het |
| Swi5 |
A |
G |
2: 32,170,766 (GRCm39) |
Y54H |
probably damaging |
Het |
| Sycp1 |
A |
G |
3: 102,823,111 (GRCm39) |
|
probably benign |
Het |
| Tarm1 |
T |
C |
7: 3,546,006 (GRCm39) |
Y87C |
probably damaging |
Het |
| Tmem67 |
G |
A |
4: 12,087,930 (GRCm39) |
T72M |
probably damaging |
Het |
| Tor1a |
A |
G |
2: 30,857,737 (GRCm39) |
Y44H |
possibly damaging |
Het |
| Ttll5 |
T |
C |
12: 86,042,827 (GRCm39) |
Y1128H |
probably benign |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,668 (GRCm39) |
M152K |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,343,724 (GRCm39) |
D1988E |
probably damaging |
Het |
| Zfp420 |
A |
G |
7: 29,575,105 (GRCm39) |
I442V |
probably benign |
Het |
| Zyx |
A |
G |
6: 42,332,939 (GRCm39) |
E363G |
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 |
|
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 |
|
|
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'- GCTCCTGTGCTTCCATGAGGATAC -3'
(R):5'- TGGGCCAGATTGCATTCCAAGAAAG -3'
Sequencing Primer
(F):5'- GCTTCCATGAGGATACACATGC -3'
(R):5'- ATGCAGTCAACATCTTTGGGC -3'
|
| Posted On |
2014-03-11 |
Incidental Mutation