Incidental Mutation 'R5629:Usp40'
| ID |
441955 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp40
|
| Ensembl Gene |
ENSMUSG00000005501 |
| Gene Name |
ubiquitin specific peptidase 40 |
| Synonyms |
B230215L03Rik |
| MMRRC Submission |
043280-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5629 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
87872841-87936273 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 87908731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 590
(R590H)
|
| 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: R590H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038533
Gene: ENSMUSG00000005501
AA Change: R590H
| 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: R590H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140107
Gene: ENSMUSG00000005501
AA Change: R590H
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
G |
A |
5: 36,014,507 (GRCm39) |
D189N |
probably benign |
Het |
| Adamts9 |
A |
T |
6: 92,775,114 (GRCm39) |
V1052D |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,057,847 (GRCm39) |
Y2077H |
probably damaging |
Het |
| Apol7e |
A |
T |
15: 77,602,276 (GRCm39) |
K291N |
probably benign |
Het |
| Arsk |
A |
T |
13: 76,242,027 (GRCm39) |
I82N |
probably damaging |
Het |
| Art1 |
A |
G |
7: 101,756,286 (GRCm39) |
Q159R |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,598,159 (GRCm39) |
V733A |
probably damaging |
Het |
| Btn2a2 |
A |
T |
13: 23,666,130 (GRCm39) |
|
probably null |
Het |
| Catsper1 |
C |
T |
19: 5,386,165 (GRCm39) |
P133S |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,726,266 (GRCm39) |
D3165G |
probably benign |
Het |
| Cldn19 |
T |
A |
4: 119,114,116 (GRCm39) |
V86E |
probably damaging |
Het |
| Ctnna1 |
T |
A |
18: 35,382,802 (GRCm39) |
D649E |
probably benign |
Het |
| Cttnbp2 |
A |
G |
6: 18,405,217 (GRCm39) |
I1094T |
probably damaging |
Het |
| Ddx24 |
T |
C |
12: 103,391,806 (GRCm39) |
|
probably benign |
Het |
| Ern2 |
T |
A |
7: 121,769,389 (GRCm39) |
H879L |
probably damaging |
Het |
| Etv4 |
T |
A |
11: 101,662,751 (GRCm39) |
H277L |
probably damaging |
Het |
| Faap100 |
G |
T |
11: 120,267,837 (GRCm39) |
A312D |
probably damaging |
Het |
| Glipr1l1 |
G |
A |
10: 111,914,308 (GRCm39) |
C223Y |
possibly damaging |
Het |
| Gna14 |
T |
C |
19: 16,414,097 (GRCm39) |
S14P |
possibly damaging |
Het |
| Hapln1 |
A |
G |
13: 89,749,634 (GRCm39) |
T60A |
probably damaging |
Het |
| Hars2 |
T |
A |
18: 36,921,719 (GRCm39) |
Y273* |
probably null |
Het |
| Ighv5-6 |
A |
T |
12: 113,589,242 (GRCm39) |
Y79* |
probably null |
Het |
| Iqgap2 |
T |
A |
13: 95,768,682 (GRCm39) |
N1406I |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 33,860,304 (GRCm39) |
T215A |
possibly damaging |
Het |
| Krtap13-1 |
T |
A |
16: 88,526,047 (GRCm39) |
S90R |
probably benign |
Het |
| Mettl8 |
T |
C |
2: 70,795,913 (GRCm39) |
I372V |
probably benign |
Het |
| Mfn1 |
A |
T |
3: 32,615,659 (GRCm39) |
T341S |
possibly damaging |
Het |
| Mocos |
T |
A |
18: 24,797,142 (GRCm39) |
|
probably null |
Het |
| Muc5b |
T |
C |
7: 141,415,036 (GRCm39) |
S2661P |
possibly damaging |
Het |
| Myo15a |
C |
T |
11: 60,370,578 (GRCm39) |
P1113S |
probably benign |
Het |
| Myo5a |
A |
T |
9: 75,111,127 (GRCm39) |
I1540F |
possibly damaging |
Het |
| Myoc |
T |
C |
1: 162,476,156 (GRCm39) |
Y287H |
probably damaging |
Het |
| Napepld |
A |
G |
5: 21,880,901 (GRCm39) |
F165L |
probably benign |
Het |
| Ndufb10 |
T |
C |
17: 24,941,656 (GRCm39) |
E102G |
probably damaging |
Het |
| Nrros |
T |
A |
16: 31,963,223 (GRCm39) |
I265F |
probably damaging |
Het |
| Nrxn1 |
A |
T |
17: 90,897,460 (GRCm39) |
F891I |
possibly damaging |
Het |
| Nsfl1c |
T |
C |
2: 151,346,085 (GRCm39) |
Y169H |
probably damaging |
Het |
| Oas2 |
G |
A |
5: 120,876,516 (GRCm39) |
Q476* |
probably null |
Het |
| Or51f5 |
A |
T |
7: 102,423,847 (GRCm39) |
I39F |
possibly damaging |
Het |
| Pcnx2 |
C |
A |
8: 126,624,780 (GRCm39) |
W14L |
probably damaging |
Het |
| Pip4p1 |
T |
C |
14: 51,165,373 (GRCm39) |
H278R |
probably benign |
Het |
| Piwil2 |
C |
T |
14: 70,660,416 (GRCm39) |
V70M |
probably damaging |
Het |
| Prss23 |
A |
C |
7: 89,159,400 (GRCm39) |
V223G |
probably damaging |
Het |
| Rarres2 |
A |
T |
6: 48,547,194 (GRCm39) |
L122Q |
probably benign |
Het |
| Robo1 |
T |
C |
16: 72,780,598 (GRCm39) |
V776A |
probably benign |
Het |
| Robo3 |
G |
A |
9: 37,330,507 (GRCm39) |
Q1008* |
probably null |
Het |
| Robo4 |
G |
A |
9: 37,319,658 (GRCm39) |
C636Y |
probably damaging |
Het |
| Sacm1l |
A |
G |
9: 123,395,464 (GRCm39) |
M196V |
probably benign |
Het |
| Septin7 |
T |
A |
9: 25,199,589 (GRCm39) |
Y163N |
probably damaging |
Het |
| Skint6 |
G |
A |
4: 112,870,176 (GRCm39) |
T594I |
possibly damaging |
Het |
| Slc23a1 |
T |
C |
18: 35,759,545 (GRCm39) |
H13R |
probably benign |
Het |
| Slc25a39 |
A |
C |
11: 102,295,719 (GRCm39) |
Y109* |
probably null |
Het |
| Slc8a3 |
G |
A |
12: 81,246,405 (GRCm39) |
R883C |
probably damaging |
Het |
| Spag17 |
A |
T |
3: 99,987,435 (GRCm39) |
Y1575F |
probably benign |
Het |
| Spdye4c |
T |
A |
2: 128,438,705 (GRCm39) |
I321N |
probably damaging |
Het |
| Stk32b |
G |
A |
5: 37,614,576 (GRCm39) |
P311S |
probably damaging |
Het |
| Svs3a |
T |
A |
2: 164,132,040 (GRCm39) |
S203T |
probably benign |
Het |
| Taf3 |
A |
T |
2: 9,922,989 (GRCm39) |
I45N |
probably damaging |
Het |
| Taf7 |
T |
C |
18: 37,776,555 (GRCm39) |
N4S |
probably benign |
Het |
| Tial1 |
T |
A |
7: 128,046,421 (GRCm39) |
D87V |
probably damaging |
Het |
| Tmem120a |
T |
A |
5: 135,770,904 (GRCm39) |
E78V |
probably benign |
Het |
| Tmem19 |
A |
G |
10: 115,183,165 (GRCm39) |
F137L |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trim30d |
T |
C |
7: 104,137,136 (GRCm39) |
K23E |
possibly damaging |
Het |
| Ubxn7 |
C |
A |
16: 32,151,117 (GRCm39) |
H4Q |
unknown |
Het |
| Vmn1r90 |
A |
G |
7: 14,296,011 (GRCm39) |
M22T |
possibly damaging |
Het |
| Vmn2r1 |
G |
A |
3: 64,012,538 (GRCm39) |
V800M |
possibly damaging |
Het |
| Vps11 |
A |
T |
9: 44,267,673 (GRCm39) |
I313N |
probably damaging |
Het |
| Zhx1 |
A |
G |
15: 57,918,207 (GRCm39) |
V13A |
probably damaging |
Het |
| Zic4 |
G |
A |
9: 91,260,805 (GRCm39) |
R20H |
probably benign |
Het |
| Zp3r |
C |
T |
1: 130,510,616 (GRCm39) |
V369M |
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 |
|
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'- GCATTGTGCATGTATATACTGCC -3'
(R):5'- CTTCAGTCAACAATGGATGCAG -3'
Sequencing Primer
(F):5'- ACGCAGAATGAGTTGCT -3'
(R):5'- ATGCAGTCAACATCTTTGGGC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation