Incidental Mutation 'R1440:Usp40'
ID |
160896 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp40
|
Ensembl Gene |
ENSMUSG00000005501 |
Gene Name |
ubiquitin specific peptidase 40 |
Synonyms |
B230215L03Rik |
MMRRC Submission |
039495-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1440 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
87872841-87936273 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87909808 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 549
(S549P)
|
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: S549P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000038533 Gene: ENSMUSG00000005501 AA Change: S549P
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: S549P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000140107 Gene: ENSMUSG00000005501 AA Change: S549P
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 |
|
Meta Mutation Damage Score |
0.0697 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.0%
- 20x: 84.7%
|
Validation Efficiency |
95% (94/99) |
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: 91 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447C04Rik |
T |
G |
12: 72,928,195 (GRCm39) |
N512T |
possibly damaging |
Het |
Aadacl2 |
A |
T |
3: 59,932,313 (GRCm39) |
H276L |
probably damaging |
Het |
Adam12 |
G |
A |
7: 133,533,543 (GRCm39) |
T445M |
probably benign |
Het |
Ash2l |
A |
T |
8: 26,317,406 (GRCm39) |
F290L |
probably benign |
Het |
Asxl3 |
C |
T |
18: 22,658,281 (GRCm39) |
P2097L |
probably benign |
Het |
Atmin |
A |
G |
8: 117,684,115 (GRCm39) |
I592V |
probably damaging |
Het |
Atxn2 |
T |
C |
5: 121,941,145 (GRCm39) |
|
probably null |
Het |
BC004004 |
T |
C |
17: 29,515,665 (GRCm39) |
|
probably null |
Het |
Cacna1e |
T |
C |
1: 154,437,552 (GRCm39) |
N328S |
possibly damaging |
Het |
Cacna2d1 |
A |
T |
5: 16,560,493 (GRCm39) |
K765I |
probably damaging |
Het |
Cc2d1a |
A |
G |
8: 84,860,604 (GRCm39) |
|
probably null |
Het |
Ccdc28b |
A |
G |
4: 129,514,408 (GRCm39) |
V198A |
probably benign |
Het |
Ces1b |
G |
T |
8: 93,794,736 (GRCm39) |
R288S |
probably damaging |
Het |
Cfap100 |
T |
G |
6: 90,389,166 (GRCm39) |
T198P |
probably benign |
Het |
Clint1 |
T |
C |
11: 45,781,610 (GRCm39) |
S227P |
probably damaging |
Het |
Cntn5 |
C |
A |
9: 10,145,344 (GRCm39) |
C122F |
probably damaging |
Het |
Col3a1 |
A |
G |
1: 45,382,472 (GRCm39) |
|
probably null |
Het |
Cyp4a10 |
A |
C |
4: 115,386,646 (GRCm39) |
D431A |
probably damaging |
Het |
Cyp4f16 |
CTATG |
CTATGTATG |
17: 32,769,708 (GRCm39) |
|
probably null |
Het |
Dlc1 |
A |
T |
8: 37,060,617 (GRCm39) |
|
probably benign |
Het |
Dlgap2 |
T |
C |
8: 14,777,060 (GRCm39) |
S102P |
probably benign |
Het |
Dnah7b |
G |
A |
1: 46,117,753 (GRCm39) |
|
probably benign |
Het |
Dock10 |
A |
C |
1: 80,526,853 (GRCm39) |
S1124A |
probably benign |
Het |
Dscam |
C |
T |
16: 96,621,151 (GRCm39) |
R519H |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,999,581 (GRCm39) |
|
probably benign |
Het |
Evi2a |
G |
T |
11: 79,418,096 (GRCm39) |
N171K |
probably damaging |
Het |
Fbxl15 |
T |
C |
19: 46,318,684 (GRCm39) |
L286P |
probably damaging |
Het |
Fpr1 |
T |
A |
17: 18,097,525 (GRCm39) |
I155F |
probably benign |
Het |
Gcat |
C |
T |
15: 78,918,194 (GRCm39) |
A84V |
probably null |
Het |
Gls |
A |
G |
1: 52,230,293 (GRCm39) |
F473L |
possibly damaging |
Het |
Gnat1 |
T |
C |
9: 107,554,164 (GRCm39) |
D169G |
probably damaging |
Het |
Grm3 |
A |
C |
5: 9,639,958 (GRCm39) |
M29R |
probably benign |
Het |
Herc1 |
A |
T |
9: 66,375,085 (GRCm39) |
D3303V |
probably damaging |
Het |
Ibsp |
G |
A |
5: 104,458,405 (GRCm39) |
G314D |
unknown |
Het |
Irag2 |
C |
T |
6: 145,120,237 (GRCm39) |
T484M |
possibly damaging |
Het |
Lgr6 |
C |
A |
1: 134,915,210 (GRCm39) |
A513S |
probably damaging |
Het |
Lrriq4 |
T |
A |
3: 30,704,910 (GRCm39) |
C313S |
probably damaging |
Het |
Marchf10 |
G |
T |
11: 105,281,409 (GRCm39) |
T292K |
probably damaging |
Het |
Mcoln2 |
C |
A |
3: 145,896,137 (GRCm39) |
Y6* |
probably null |
Het |
Mup4 |
A |
G |
4: 59,958,076 (GRCm39) |
I164T |
probably damaging |
Het |
Myo1b |
T |
C |
1: 51,817,717 (GRCm39) |
|
probably benign |
Het |
Ncam1 |
A |
G |
9: 49,456,100 (GRCm39) |
I506T |
probably damaging |
Het |
Notch1 |
A |
T |
2: 26,370,976 (GRCm39) |
|
probably benign |
Het |
Nr4a3 |
A |
T |
4: 48,051,777 (GRCm39) |
Q177L |
probably benign |
Het |
Nsun4 |
A |
G |
4: 115,910,147 (GRCm39) |
S138P |
possibly damaging |
Het |
Or1a1 |
A |
G |
11: 74,086,505 (GRCm39) |
M59V |
probably damaging |
Het |
Or2b6 |
G |
T |
13: 21,823,560 (GRCm39) |
N44K |
probably benign |
Het |
Or2d36 |
A |
T |
7: 106,747,405 (GRCm39) |
N294I |
probably damaging |
Het |
Or4k5 |
T |
C |
14: 50,385,815 (GRCm39) |
N172S |
probably damaging |
Het |
Pagr1a |
A |
T |
7: 126,615,469 (GRCm39) |
|
probably benign |
Het |
Pcdhb2 |
A |
T |
18: 37,429,343 (GRCm39) |
I82L |
probably benign |
Het |
Pds5b |
A |
T |
5: 150,677,882 (GRCm39) |
N500I |
probably damaging |
Het |
Pik3r6 |
A |
T |
11: 68,422,271 (GRCm39) |
E223D |
possibly damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,404,384 (GRCm39) |
|
probably benign |
Het |
Prex1 |
T |
C |
2: 166,422,383 (GRCm39) |
D1204G |
probably damaging |
Het |
Prickle1 |
C |
T |
15: 93,402,955 (GRCm39) |
E244K |
possibly damaging |
Het |
Ptprd |
A |
T |
4: 76,002,789 (GRCm39) |
V211E |
probably damaging |
Het |
Rad51d |
G |
A |
11: 82,781,179 (GRCm39) |
R23* |
probably null |
Het |
Rapgef6 |
G |
A |
11: 54,517,534 (GRCm39) |
G262R |
probably damaging |
Het |
Reln |
A |
G |
5: 22,333,600 (GRCm39) |
|
probably benign |
Het |
Rev1 |
T |
C |
1: 38,127,286 (GRCm39) |
T325A |
probably damaging |
Het |
Rnd3 |
T |
A |
2: 51,022,518 (GRCm39) |
I175L |
probably benign |
Het |
Rp1 |
C |
A |
1: 4,417,619 (GRCm39) |
L1164F |
probably damaging |
Het |
S100a7a |
T |
C |
3: 90,562,942 (GRCm39) |
V43A |
probably benign |
Het |
Scaper |
A |
C |
9: 55,510,202 (GRCm39) |
Y1104* |
probably null |
Het |
Scn2a |
T |
A |
2: 65,594,938 (GRCm39) |
V1929D |
probably benign |
Het |
Scn3a |
T |
C |
2: 65,359,785 (GRCm39) |
N141S |
possibly damaging |
Het |
Slc12a7 |
T |
G |
13: 73,949,127 (GRCm39) |
L718R |
probably damaging |
Het |
Slc15a2 |
T |
C |
16: 36,605,005 (GRCm39) |
|
probably benign |
Het |
Slc35b3 |
G |
A |
13: 39,138,110 (GRCm39) |
Q100* |
probably null |
Het |
Slc9a5 |
T |
A |
8: 106,081,785 (GRCm39) |
V170E |
possibly damaging |
Het |
Snx5 |
T |
G |
2: 144,096,731 (GRCm39) |
K278T |
possibly damaging |
Het |
Sorbs2 |
T |
C |
8: 46,243,000 (GRCm39) |
|
probably benign |
Het |
Stab1 |
C |
T |
14: 30,873,647 (GRCm39) |
W1008* |
probably null |
Het |
Stab2 |
C |
T |
10: 86,697,231 (GRCm39) |
|
probably null |
Het |
Tacc3 |
A |
G |
5: 33,825,321 (GRCm39) |
E377G |
probably benign |
Het |
Tango6 |
T |
C |
8: 107,415,671 (GRCm39) |
L164P |
probably damaging |
Het |
Tbc1d12 |
T |
A |
19: 38,902,796 (GRCm39) |
S570T |
possibly damaging |
Het |
Thbs1 |
T |
C |
2: 117,944,836 (GRCm39) |
F217L |
probably damaging |
Het |
Tmbim6 |
T |
A |
15: 99,300,004 (GRCm39) |
V40E |
probably damaging |
Het |
Tmigd1 |
A |
T |
11: 76,800,986 (GRCm39) |
N158Y |
probably damaging |
Het |
Top3b |
C |
T |
16: 16,710,641 (GRCm39) |
R824* |
probably null |
Het |
Tram1l1 |
A |
T |
3: 124,115,580 (GRCm39) |
K247* |
probably null |
Het |
Tsc2 |
T |
C |
17: 24,833,366 (GRCm39) |
Y686C |
probably damaging |
Het |
Tsga10 |
T |
C |
1: 37,858,680 (GRCm39) |
Q218R |
probably damaging |
Het |
Uba6 |
G |
T |
5: 86,288,282 (GRCm39) |
A439D |
probably damaging |
Het |
Ubn1 |
C |
A |
16: 4,895,158 (GRCm39) |
P735T |
probably damaging |
Het |
Utp20 |
T |
C |
10: 88,655,201 (GRCm39) |
T176A |
probably benign |
Het |
Utp4 |
T |
G |
8: 107,624,685 (GRCm39) |
|
probably benign |
Het |
Xpo5 |
C |
T |
17: 46,518,853 (GRCm39) |
|
probably benign |
Het |
Zfp979 |
A |
T |
4: 147,698,493 (GRCm39) |
I72K |
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 |
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'- TTTGGAATGCCCTCCACAGCTC -3'
(R):5'- ATGGCACAGGTCTCGCTGAATG -3'
Sequencing Primer
(F):5'- AGCTTAGCTCTGCCAGAACTG -3'
(R):5'- tttgtttgtttgtttgtttgGGG -3'
|
Posted On |
2014-03-14 |