Incidental Mutation 'R1919:Usp40'
ID |
212794 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp40
|
Ensembl Gene |
ENSMUSG00000005501 |
Gene Name |
ubiquitin specific peptidase 40 |
Synonyms |
B230215L03Rik |
MMRRC Submission |
039937-MU
|
Accession Numbers |
Genbank: NM_001033291 |
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1919 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
87945119-88008551 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 87995842 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 236
(R236C)
|
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: R236C
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000038533 Gene: ENSMUSG00000005501 AA Change: R236C
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 |
possibly damaging
Transcript: ENSMUST00000187758
AA Change: R236C
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000140107 Gene: ENSMUSG00000005501 AA Change: R236C
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: 97.5%
- 3x: 97.0%
- 10x: 95.7%
- 20x: 93.3%
|
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: 94 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 138,067,270 (GRCm38) |
E740G |
probably damaging |
Het |
4930474N05Rik |
G |
T |
14: 36,095,457 (GRCm38) |
V105F |
possibly damaging |
Het |
4932438A13Rik |
A |
G |
3: 37,006,983 (GRCm38) |
|
probably null |
Het |
Actr10 |
A |
G |
12: 70,942,330 (GRCm38) |
I74M |
probably benign |
Het |
Aen |
T |
C |
7: 78,905,912 (GRCm38) |
Y108H |
probably damaging |
Het |
Afm |
A |
T |
5: 90,524,920 (GRCm38) |
K205* |
probably null |
Het |
Ankrd27 |
T |
A |
7: 35,632,985 (GRCm38) |
S846T |
probably benign |
Het |
Ano3 |
A |
G |
2: 110,885,007 (GRCm38) |
S29P |
probably benign |
Het |
Apaf1 |
C |
T |
10: 91,077,614 (GRCm38) |
W138* |
probably null |
Het |
Arfgef1 |
C |
T |
1: 10,199,878 (GRCm38) |
A349T |
probably benign |
Het |
Arhgef4 |
A |
G |
1: 34,811,140 (GRCm38) |
Q1798R |
probably damaging |
Het |
Astn1 |
G |
A |
1: 158,509,971 (GRCm38) |
V416I |
probably damaging |
Het |
Atxn2l |
G |
A |
7: 126,493,168 (GRCm38) |
T70I |
probably damaging |
Het |
Auh |
G |
A |
13: 52,835,496 (GRCm38) |
P308L |
probably benign |
Het |
Bspry |
T |
A |
4: 62,494,797 (GRCm38) |
C256S |
probably damaging |
Het |
C3 |
C |
A |
17: 57,220,135 (GRCm38) |
W771C |
probably damaging |
Het |
Camkv |
A |
G |
9: 107,947,088 (GRCm38) |
D233G |
possibly damaging |
Het |
Catsperd |
T |
A |
17: 56,635,548 (GRCm38) |
V109E |
probably damaging |
Het |
Cd101 |
A |
G |
3: 101,018,917 (GRCm38) |
L162P |
probably damaging |
Het |
Cdr2l |
A |
G |
11: 115,392,777 (GRCm38) |
T154A |
probably damaging |
Het |
Clca3a2 |
G |
C |
3: 144,810,696 (GRCm38) |
Q380E |
probably benign |
Het |
Col6a3 |
T |
C |
1: 90,822,359 (GRCm38) |
N251S |
possibly damaging |
Het |
Cttnbp2nl |
A |
G |
3: 105,011,278 (GRCm38) |
V82A |
possibly damaging |
Het |
Cux1 |
G |
A |
5: 136,363,319 (GRCm38) |
Q194* |
probably null |
Het |
Daam2 |
T |
C |
17: 49,485,457 (GRCm38) |
E361G |
probably benign |
Het |
Dcaf17 |
A |
T |
2: 71,078,172 (GRCm38) |
|
probably null |
Het |
Dnaic1 |
T |
C |
4: 41,570,020 (GRCm38) |
|
probably null |
Het |
Eml5 |
T |
C |
12: 98,798,839 (GRCm38) |
Y1617C |
probably damaging |
Het |
Epb41l4b |
T |
C |
4: 57,040,993 (GRCm38) |
E490G |
probably damaging |
Het |
Epha7 |
T |
C |
4: 28,963,969 (GRCm38) |
M988T |
possibly damaging |
Het |
Fancm |
T |
C |
12: 65,105,520 (GRCm38) |
C917R |
possibly damaging |
Het |
Fnip1 |
C |
T |
11: 54,480,684 (GRCm38) |
T177I |
probably damaging |
Het |
Gm12169 |
A |
G |
11: 46,528,531 (GRCm38) |
D58G |
possibly damaging |
Het |
Gm3604 |
G |
T |
13: 62,369,942 (GRCm38) |
H201N |
probably benign |
Het |
Gnpda1 |
T |
C |
18: 38,333,190 (GRCm38) |
|
probably null |
Het |
Gpatch8 |
A |
G |
11: 102,508,142 (GRCm38) |
|
probably null |
Het |
H2-M3 |
T |
C |
17: 37,271,189 (GRCm38) |
Y179H |
possibly damaging |
Het |
H2-Q10 |
C |
A |
17: 35,470,488 (GRCm38) |
S62R |
probably damaging |
Het |
Hipk2 |
G |
A |
6: 38,818,984 (GRCm38) |
R117* |
probably null |
Het |
Hrg |
A |
T |
16: 22,954,457 (GRCm38) |
Q113H |
probably damaging |
Het |
Kcnj16 |
T |
C |
11: 111,024,953 (GRCm38) |
V147A |
possibly damaging |
Het |
Kif1a |
T |
C |
1: 93,019,031 (GRCm38) |
I1650V |
possibly damaging |
Het |
Kmt2a |
C |
T |
9: 44,820,345 (GRCm38) |
|
probably benign |
Het |
Krt90 |
A |
T |
15: 101,557,230 (GRCm38) |
Y319N |
probably damaging |
Het |
Lipo4 |
T |
C |
19: 33,499,271 (GRCm38) |
N359S |
possibly damaging |
Het |
Lrp1b |
G |
T |
2: 41,728,729 (GRCm38) |
T225K |
probably benign |
Het |
Map1a |
C |
T |
2: 121,307,012 (GRCm38) |
P2532S |
probably damaging |
Het |
Mmrn2 |
A |
G |
14: 34,397,643 (GRCm38) |
D193G |
probably benign |
Het |
Mpped2 |
T |
A |
2: 106,867,032 (GRCm38) |
I284N |
probably damaging |
Het |
Msh6 |
A |
G |
17: 87,985,125 (GRCm38) |
H436R |
probably benign |
Het |
Mterf3 |
A |
T |
13: 66,930,062 (GRCm38) |
S48T |
probably damaging |
Het |
Muc5b |
T |
C |
7: 141,846,031 (GRCm38) |
F414L |
unknown |
Het |
Mylk4 |
A |
T |
13: 32,724,853 (GRCm38) |
D90E |
probably benign |
Het |
Nploc4 |
A |
G |
11: 120,404,229 (GRCm38) |
Y420H |
probably damaging |
Het |
Npr2 |
T |
A |
4: 43,640,578 (GRCm38) |
Y344N |
probably damaging |
Het |
Nsun5 |
A |
G |
5: 135,375,598 (GRCm38) |
T397A |
probably benign |
Het |
Ntsr2 |
A |
T |
12: 16,654,110 (GRCm38) |
Q204L |
probably damaging |
Het |
Nwd2 |
T |
A |
5: 63,806,180 (GRCm38) |
Y1036N |
probably damaging |
Het |
Oacyl |
T |
C |
18: 65,710,547 (GRCm38) |
V105A |
possibly damaging |
Het |
Olfr791 |
T |
A |
10: 129,527,049 (GRCm38) |
V274D |
probably damaging |
Het |
Parp3 |
T |
A |
9: 106,475,117 (GRCm38) |
Q70L |
possibly damaging |
Het |
Parp4 |
T |
C |
14: 56,624,017 (GRCm38) |
S936P |
probably damaging |
Het |
Pdzd3 |
T |
C |
9: 44,250,303 (GRCm38) |
D93G |
possibly damaging |
Het |
Phkb |
A |
G |
8: 85,922,161 (GRCm38) |
E202G |
probably benign |
Het |
Pink1 |
T |
C |
4: 138,314,020 (GRCm38) |
N530S |
probably benign |
Het |
Pou3f2 |
T |
C |
4: 22,487,119 (GRCm38) |
D338G |
probably damaging |
Het |
Prss8 |
G |
T |
7: 127,929,858 (GRCm38) |
L9I |
probably benign |
Het |
Ptpn22 |
G |
A |
3: 103,876,738 (GRCm38) |
|
probably null |
Het |
Rad54b |
A |
C |
4: 11,601,693 (GRCm38) |
N416T |
probably damaging |
Het |
Rasef |
A |
G |
4: 73,744,114 (GRCm38) |
S200P |
possibly damaging |
Het |
Rb1 |
T |
A |
14: 73,212,990 (GRCm38) |
K645* |
probably null |
Het |
Robo2 |
C |
T |
16: 73,899,154 (GRCm38) |
G1367D |
probably benign |
Het |
Rp1 |
A |
G |
1: 4,352,671 (GRCm38) |
V52A |
probably damaging |
Het |
Samd13 |
T |
C |
3: 146,662,712 (GRCm38) |
T23A |
probably benign |
Het |
Scn7a |
T |
C |
2: 66,699,973 (GRCm38) |
H676R |
probably damaging |
Het |
Serpinb6b |
A |
G |
13: 32,978,240 (GRCm38) |
I222V |
probably benign |
Het |
Slc2a8 |
T |
C |
2: 32,980,079 (GRCm38) |
Y150C |
probably damaging |
Het |
Slc7a6os |
C |
A |
8: 106,210,564 (GRCm38) |
R88L |
probably damaging |
Het |
Slc8a2 |
A |
G |
7: 16,152,920 (GRCm38) |
I657V |
probably benign |
Het |
Slit2 |
C |
A |
5: 48,191,016 (GRCm38) |
|
probably benign |
Het |
Spire2 |
A |
G |
8: 123,363,071 (GRCm38) |
D447G |
probably benign |
Het |
Sptlc3 |
A |
G |
2: 139,566,675 (GRCm38) |
N237D |
possibly damaging |
Het |
Stk3 |
G |
A |
15: 35,073,217 (GRCm38) |
T119I |
probably damaging |
Het |
Suv39h2 |
G |
A |
2: 3,464,316 (GRCm38) |
T334I |
probably damaging |
Het |
Syt5 |
G |
T |
7: 4,540,279 (GRCm38) |
T327N |
probably damaging |
Het |
Tcof1 |
T |
C |
18: 60,816,084 (GRCm38) |
D1253G |
possibly damaging |
Het |
Tnks |
A |
T |
8: 34,875,232 (GRCm38) |
V388D |
probably damaging |
Het |
Ugt2b1 |
T |
C |
5: 86,926,000 (GRCm38) |
T167A |
probably benign |
Het |
Utrn |
T |
C |
10: 12,455,480 (GRCm38) |
D2904G |
probably benign |
Het |
Vmn1r226 |
T |
C |
17: 20,687,580 (GRCm38) |
S25P |
probably damaging |
Het |
Vmn2r23 |
T |
C |
6: 123,713,010 (GRCm38) |
S282P |
possibly damaging |
Het |
Vps45 |
T |
C |
3: 96,046,440 (GRCm38) |
E200G |
probably benign |
Het |
Wnt7b |
T |
A |
15: 85,559,080 (GRCm38) |
I41F |
probably damaging |
Het |
Zmym6 |
T |
A |
4: 127,103,414 (GRCm38) |
N275K |
probably damaging |
Het |
|
Other mutations in Usp40 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00264:Usp40
|
APN |
1 |
88,004,238 (GRCm38) |
splice site |
probably benign |
|
IGL00828:Usp40
|
APN |
1 |
87,978,306 (GRCm38) |
unclassified |
probably benign |
|
IGL01090:Usp40
|
APN |
1 |
87,962,465 (GRCm38) |
missense |
probably benign |
0.01 |
IGL01123:Usp40
|
APN |
1 |
87,986,123 (GRCm38) |
missense |
probably benign |
0.01 |
IGL01401:Usp40
|
APN |
1 |
87,994,198 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02506:Usp40
|
APN |
1 |
87,982,016 (GRCm38) |
missense |
probably damaging |
0.98 |
IGL02580:Usp40
|
APN |
1 |
87,980,966 (GRCm38) |
splice site |
probably null |
|
IGL02625:Usp40
|
APN |
1 |
87,950,017 (GRCm38) |
missense |
probably benign |
0.19 |
IGL02811:Usp40
|
APN |
1 |
87,995,736 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02958:Usp40
|
APN |
1 |
87,978,485 (GRCm38) |
missense |
probably damaging |
0.99 |
Brink
|
UTSW |
1 |
87,981,033 (GRCm38) |
missense |
probably benign |
0.11 |
void
|
UTSW |
1 |
87,995,713 (GRCm38) |
nonsense |
probably null |
|
G5030:Usp40
|
UTSW |
1 |
87,994,219 (GRCm38) |
missense |
probably damaging |
1.00 |
R0019:Usp40
|
UTSW |
1 |
87,978,411 (GRCm38) |
missense |
probably benign |
0.00 |
R0282:Usp40
|
UTSW |
1 |
87,980,958 (GRCm38) |
splice site |
probably benign |
|
R0453:Usp40
|
UTSW |
1 |
87,946,598 (GRCm38) |
makesense |
probably null |
|
R0646:Usp40
|
UTSW |
1 |
87,978,522 (GRCm38) |
missense |
probably benign |
0.00 |
R1440:Usp40
|
UTSW |
1 |
87,982,086 (GRCm38) |
missense |
probably benign |
0.01 |
R1490:Usp40
|
UTSW |
1 |
87,988,965 (GRCm38) |
nonsense |
probably null |
|
R1620:Usp40
|
UTSW |
1 |
87,994,225 (GRCm38) |
missense |
probably damaging |
1.00 |
R1881:Usp40
|
UTSW |
1 |
87,994,271 (GRCm38) |
missense |
probably benign |
0.08 |
R1903:Usp40
|
UTSW |
1 |
87,982,056 (GRCm38) |
missense |
probably benign |
0.15 |
R1912:Usp40
|
UTSW |
1 |
87,946,646 (GRCm38) |
missense |
probably benign |
0.00 |
R1976:Usp40
|
UTSW |
1 |
87,978,536 (GRCm38) |
missense |
probably benign |
0.00 |
R2111:Usp40
|
UTSW |
1 |
87,950,214 (GRCm38) |
missense |
probably benign |
0.17 |
R2112:Usp40
|
UTSW |
1 |
87,950,214 (GRCm38) |
missense |
probably benign |
0.17 |
R2163:Usp40
|
UTSW |
1 |
87,995,858 (GRCm38) |
splice site |
probably benign |
|
R2432:Usp40
|
UTSW |
1 |
87,982,082 (GRCm38) |
missense |
probably benign |
|
R2865:Usp40
|
UTSW |
1 |
87,949,979 (GRCm38) |
nonsense |
probably null |
|
R3885:Usp40
|
UTSW |
1 |
87,967,269 (GRCm38) |
missense |
probably damaging |
1.00 |
R4360:Usp40
|
UTSW |
1 |
87,952,361 (GRCm38) |
missense |
probably damaging |
1.00 |
R4370:Usp40
|
UTSW |
1 |
87,997,875 (GRCm38) |
missense |
probably benign |
|
R4496:Usp40
|
UTSW |
1 |
87,995,737 (GRCm38) |
missense |
possibly damaging |
0.69 |
R4714:Usp40
|
UTSW |
1 |
87,967,179 (GRCm38) |
splice site |
probably null |
|
R4888:Usp40
|
UTSW |
1 |
87,986,201 (GRCm38) |
critical splice acceptor site |
probably null |
|
R4944:Usp40
|
UTSW |
1 |
87,952,355 (GRCm38) |
missense |
probably benign |
0.10 |
R5269:Usp40
|
UTSW |
1 |
87,995,782 (GRCm38) |
missense |
probably benign |
0.01 |
R5629:Usp40
|
UTSW |
1 |
87,981,009 (GRCm38) |
missense |
probably benign |
|
R5696:Usp40
|
UTSW |
1 |
87,995,752 (GRCm38) |
missense |
probably benign |
0.27 |
R5756:Usp40
|
UTSW |
1 |
87,951,691 (GRCm38) |
missense |
possibly damaging |
0.66 |
R5887:Usp40
|
UTSW |
1 |
87,999,870 (GRCm38) |
missense |
probably damaging |
1.00 |
R5910:Usp40
|
UTSW |
1 |
87,968,400 (GRCm38) |
nonsense |
probably null |
|
R6014:Usp40
|
UTSW |
1 |
87,980,016 (GRCm38) |
missense |
probably damaging |
1.00 |
R6044:Usp40
|
UTSW |
1 |
87,990,150 (GRCm38) |
missense |
probably benign |
|
R6083:Usp40
|
UTSW |
1 |
87,978,559 (GRCm38) |
missense |
probably benign |
0.01 |
R6299:Usp40
|
UTSW |
1 |
87,997,927 (GRCm38) |
missense |
probably damaging |
0.99 |
R6625:Usp40
|
UTSW |
1 |
87,967,213 (GRCm38) |
missense |
probably benign |
0.01 |
R6757:Usp40
|
UTSW |
1 |
87,980,037 (GRCm38) |
missense |
probably damaging |
0.99 |
R6810:Usp40
|
UTSW |
1 |
87,981,033 (GRCm38) |
missense |
probably benign |
0.11 |
R7110:Usp40
|
UTSW |
1 |
87,986,162 (GRCm38) |
missense |
probably benign |
0.11 |
R7573:Usp40
|
UTSW |
1 |
87,986,072 (GRCm38) |
missense |
probably benign |
0.09 |
R7575:Usp40
|
UTSW |
1 |
87,949,960 (GRCm38) |
missense |
probably damaging |
1.00 |
R7634:Usp40
|
UTSW |
1 |
87,962,430 (GRCm38) |
nonsense |
probably null |
|
R7756:Usp40
|
UTSW |
1 |
87,967,200 (GRCm38) |
missense |
probably damaging |
0.99 |
R7767:Usp40
|
UTSW |
1 |
87,982,178 (GRCm38) |
missense |
probably benign |
0.01 |
R7861:Usp40
|
UTSW |
1 |
87,982,130 (GRCm38) |
missense |
probably damaging |
0.99 |
R7881:Usp40
|
UTSW |
1 |
87,995,713 (GRCm38) |
nonsense |
probably null |
|
R7896:Usp40
|
UTSW |
1 |
87,978,479 (GRCm38) |
missense |
possibly damaging |
0.77 |
R8119:Usp40
|
UTSW |
1 |
87,967,678 (GRCm38) |
splice site |
probably null |
|
R8354:Usp40
|
UTSW |
1 |
87,980,972 (GRCm38) |
missense |
probably benign |
0.00 |
R8358:Usp40
|
UTSW |
1 |
87,981,048 (GRCm38) |
missense |
possibly damaging |
0.71 |
R8425:Usp40
|
UTSW |
1 |
87,959,836 (GRCm38) |
missense |
probably benign |
|
R8446:Usp40
|
UTSW |
1 |
87,978,468 (GRCm38) |
missense |
probably benign |
|
R8454:Usp40
|
UTSW |
1 |
87,980,972 (GRCm38) |
missense |
probably benign |
0.00 |
R8744:Usp40
|
UTSW |
1 |
87,983,769 (GRCm38) |
missense |
probably benign |
|
R9002:Usp40
|
UTSW |
1 |
88,007,341 (GRCm38) |
missense |
probably benign |
|
R9033:Usp40
|
UTSW |
1 |
87,995,777 (GRCm38) |
utr 3 prime |
probably benign |
|
R9210:Usp40
|
UTSW |
1 |
87,957,313 (GRCm38) |
missense |
possibly damaging |
0.90 |
R9245:Usp40
|
UTSW |
1 |
87,950,287 (GRCm38) |
missense |
probably benign |
|
R9331:Usp40
|
UTSW |
1 |
87,974,106 (GRCm38) |
missense |
probably damaging |
1.00 |
R9378:Usp40
|
UTSW |
1 |
87,957,310 (GRCm38) |
missense |
probably damaging |
1.00 |
R9379:Usp40
|
UTSW |
1 |
87,954,167 (GRCm38) |
missense |
probably benign |
|
R9501:Usp40
|
UTSW |
1 |
87,997,835 (GRCm38) |
missense |
probably benign |
0.01 |
R9535:Usp40
|
UTSW |
1 |
88,007,439 (GRCm38) |
start gained |
probably benign |
|
R9537:Usp40
|
UTSW |
1 |
88,007,395 (GRCm38) |
missense |
probably benign |
0.01 |
RF006:Usp40
|
UTSW |
1 |
87,967,195 (GRCm38) |
missense |
possibly damaging |
0.47 |
Z1177:Usp40
|
UTSW |
1 |
87,968,414 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AACTGAGTATTCGAATCTTGGGAGG -3'
(R):5'- TGTTGTAAGCATAACCACACAATAC -3'
Sequencing Primer
(F):5'- GTATTCGAATCTTGGGAGGAAAAG -3'
(R):5'- CATGGAGGCATTTTCCCAACTGAAG -3'
|
Posted On |
2014-07-14 |