Incidental Mutation 'R2112:Usp40'
ID |
232619 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp40
|
Ensembl Gene |
ENSMUSG00000005501 |
Gene Name |
ubiquitin specific peptidase 40 |
Synonyms |
B230215L03Rik |
MMRRC Submission |
040116-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2112 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
87872841-87936273 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87877936 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 1117
(I1117T)
|
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: I1028T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000038533 Gene: ENSMUSG00000005501 AA Change: I1028T
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: ENSMUST00000186670
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187758
AA Change: I1117T
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000140107 Gene: ENSMUSG00000005501 AA Change: I1117T
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 |
0.0634 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 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: 94 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam1b |
A |
G |
5: 121,638,777 (GRCm39) |
|
probably benign |
Het |
Adprhl1 |
A |
G |
8: 13,298,694 (GRCm39) |
Y79H |
probably damaging |
Het |
Ambra1 |
T |
A |
2: 91,706,132 (GRCm39) |
W746R |
probably damaging |
Het |
Ankhd1 |
A |
T |
18: 36,774,679 (GRCm39) |
K1420I |
probably damaging |
Het |
Ap1b1 |
T |
C |
11: 4,965,613 (GRCm39) |
F51L |
probably damaging |
Het |
Arhgap24 |
A |
C |
5: 103,040,366 (GRCm39) |
R434S |
probably damaging |
Het |
Arhgap29 |
T |
C |
3: 121,805,210 (GRCm39) |
L525P |
probably benign |
Het |
Arpc1b |
T |
C |
5: 145,060,579 (GRCm39) |
Y124H |
probably damaging |
Het |
Arr3 |
T |
A |
X: 99,658,247 (GRCm39) |
F269L |
possibly damaging |
Het |
Atp11b |
G |
T |
3: 35,891,677 (GRCm39) |
V830F |
probably damaging |
Het |
Ccdc71l |
T |
A |
12: 32,429,229 (GRCm39) |
F83I |
probably damaging |
Het |
Cdh23 |
G |
T |
10: 60,141,362 (GRCm39) |
F3127L |
probably damaging |
Het |
Cfap251 |
G |
A |
5: 123,392,438 (GRCm39) |
|
probably benign |
Het |
Cldn15 |
T |
A |
5: 136,997,016 (GRCm39) |
M19K |
possibly damaging |
Het |
Cog4 |
A |
G |
8: 111,585,214 (GRCm39) |
Y292C |
possibly damaging |
Het |
Col12a1 |
A |
G |
9: 79,551,181 (GRCm39) |
V2145A |
possibly damaging |
Het |
Col5a3 |
T |
C |
9: 20,721,073 (GRCm39) |
I110V |
unknown |
Het |
Cps1 |
T |
A |
1: 67,216,139 (GRCm39) |
D821E |
probably benign |
Het |
Crnkl1 |
A |
T |
2: 145,772,617 (GRCm39) |
Y153* |
probably null |
Het |
Dock10 |
T |
A |
1: 80,483,359 (GRCm39) |
K2082M |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,483,360 (GRCm39) |
K2083E |
probably damaging |
Het |
Dst |
T |
C |
1: 34,208,259 (GRCm39) |
S737P |
probably damaging |
Het |
Dthd1 |
T |
C |
5: 63,000,222 (GRCm39) |
S515P |
probably damaging |
Het |
Dthd1 |
T |
C |
5: 62,979,251 (GRCm39) |
Y304H |
probably damaging |
Het |
Etf1 |
A |
T |
18: 35,042,154 (GRCm39) |
|
probably null |
Het |
Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
Galt |
A |
G |
4: 41,758,245 (GRCm39) |
T337A |
probably benign |
Het |
Gbp4 |
A |
G |
5: 105,283,042 (GRCm39) |
L76P |
possibly damaging |
Het |
Gcfc2 |
C |
A |
6: 81,900,759 (GRCm39) |
D24E |
probably benign |
Het |
Gigyf2 |
A |
G |
1: 87,368,452 (GRCm39) |
H1044R |
probably damaging |
Het |
Glg1 |
T |
C |
8: 111,919,178 (GRCm39) |
D315G |
probably damaging |
Het |
Gm4787 |
C |
T |
12: 81,424,607 (GRCm39) |
C517Y |
probably damaging |
Het |
Gnl3l |
A |
G |
X: 149,780,290 (GRCm39) |
S217P |
probably damaging |
Het |
Gpr37 |
T |
C |
6: 25,669,380 (GRCm39) |
Y488C |
possibly damaging |
Het |
Hap1 |
T |
C |
11: 100,244,825 (GRCm39) |
D240G |
probably benign |
Het |
Hhla1 |
C |
G |
15: 65,808,232 (GRCm39) |
W271S |
probably benign |
Het |
Hmgxb3 |
T |
C |
18: 61,288,458 (GRCm39) |
R470G |
possibly damaging |
Het |
Inpp5a |
A |
G |
7: 139,154,877 (GRCm39) |
D332G |
probably damaging |
Het |
Insr |
A |
G |
8: 3,219,748 (GRCm39) |
S925P |
probably benign |
Het |
Isoc2b |
T |
A |
7: 4,852,474 (GRCm39) |
D171V |
probably damaging |
Het |
Kif20b |
T |
C |
19: 34,909,132 (GRCm39) |
I223T |
probably benign |
Het |
Krt6b |
T |
C |
15: 101,586,999 (GRCm39) |
T258A |
possibly damaging |
Het |
Lipo4 |
G |
A |
19: 33,488,926 (GRCm39) |
P219L |
probably benign |
Het |
Luc7l |
T |
C |
17: 26,474,101 (GRCm39) |
|
probably null |
Het |
Madd |
T |
C |
2: 91,007,321 (GRCm39) |
K264E |
possibly damaging |
Het |
Mcf2l |
A |
T |
8: 13,051,867 (GRCm39) |
K433N |
probably damaging |
Het |
Mob3b |
A |
T |
4: 35,083,795 (GRCm39) |
N131K |
probably damaging |
Het |
Mtus1 |
G |
T |
8: 41,475,608 (GRCm39) |
P819T |
probably damaging |
Het |
Myo15a |
T |
C |
11: 60,384,994 (GRCm39) |
F1699L |
probably damaging |
Het |
Nav1 |
C |
T |
1: 135,376,742 (GRCm39) |
R1694Q |
probably damaging |
Het |
Neb |
G |
C |
2: 52,218,776 (GRCm39) |
T78S |
probably damaging |
Het |
Nek2 |
T |
C |
1: 191,559,320 (GRCm39) |
V275A |
probably benign |
Het |
Nfatc1 |
A |
T |
18: 80,678,879 (GRCm39) |
C836* |
probably null |
Het |
Nos1 |
T |
C |
5: 118,074,636 (GRCm39) |
V1060A |
probably benign |
Het |
Notch3 |
T |
A |
17: 32,363,584 (GRCm39) |
I1160F |
probably benign |
Het |
Nox4 |
T |
C |
7: 87,021,216 (GRCm39) |
L476P |
probably damaging |
Het |
Npc1 |
A |
T |
18: 12,346,529 (GRCm39) |
N222K |
possibly damaging |
Het |
Nrn1l |
C |
A |
8: 106,621,378 (GRCm39) |
H109Q |
possibly damaging |
Het |
Or4c11 |
T |
C |
2: 88,695,545 (GRCm39) |
S199P |
possibly damaging |
Het |
Or4k15 |
G |
T |
14: 50,364,080 (GRCm39) |
L15F |
probably damaging |
Het |
Or6d13 |
T |
C |
6: 116,517,611 (GRCm39) |
Y66H |
possibly damaging |
Het |
Or7a41 |
T |
C |
10: 78,871,248 (GRCm39) |
L206P |
probably damaging |
Het |
Or8g27 |
T |
C |
9: 39,129,075 (GRCm39) |
Y141H |
probably benign |
Het |
Or8g33 |
C |
A |
9: 39,337,966 (GRCm39) |
V134L |
probably benign |
Het |
Pcnt |
T |
C |
10: 76,256,360 (GRCm39) |
K627E |
probably damaging |
Het |
Plch1 |
T |
A |
3: 63,630,227 (GRCm39) |
T514S |
probably damaging |
Het |
Ppargc1b |
G |
A |
18: 61,444,321 (GRCm39) |
P297S |
probably benign |
Het |
Ppig |
A |
G |
2: 69,580,451 (GRCm39) |
T662A |
unknown |
Het |
Prdm2 |
A |
C |
4: 142,858,506 (GRCm39) |
S1595A |
probably benign |
Het |
Ptpn5 |
T |
A |
7: 46,732,890 (GRCm39) |
T318S |
probably benign |
Het |
Ralgps2 |
A |
G |
1: 156,660,278 (GRCm39) |
Y265H |
probably damaging |
Het |
Seh1l |
T |
C |
18: 67,920,249 (GRCm39) |
I182T |
probably damaging |
Het |
Slc12a6 |
T |
C |
2: 112,186,830 (GRCm39) |
I943T |
probably damaging |
Het |
Slc5a5 |
A |
T |
8: 71,342,395 (GRCm39) |
|
probably null |
Het |
Sparcl1 |
T |
A |
5: 104,236,289 (GRCm39) |
Q488L |
probably damaging |
Het |
Sphkap |
T |
G |
1: 83,253,602 (GRCm39) |
K1382N |
probably benign |
Het |
Sybu |
T |
C |
15: 44,536,731 (GRCm39) |
S532G |
probably benign |
Het |
Syde2 |
G |
A |
3: 145,704,241 (GRCm39) |
G131S |
possibly damaging |
Het |
Taok1 |
C |
T |
11: 77,462,472 (GRCm39) |
V206I |
probably benign |
Het |
Tas1r2 |
G |
T |
4: 139,382,666 (GRCm39) |
M101I |
probably benign |
Het |
Trpc6 |
C |
T |
9: 8,656,613 (GRCm39) |
T680I |
probably damaging |
Het |
Trub1 |
T |
C |
19: 57,473,646 (GRCm39) |
|
probably null |
Het |
Tspan1 |
G |
T |
4: 116,020,885 (GRCm39) |
|
probably null |
Het |
Ttc28 |
G |
A |
5: 111,424,139 (GRCm39) |
E1438K |
probably damaging |
Het |
Ubr3 |
A |
G |
2: 69,808,136 (GRCm39) |
T1206A |
possibly damaging |
Het |
Ulbp3 |
C |
T |
10: 3,076,459 (GRCm39) |
|
noncoding transcript |
Het |
Usp43 |
G |
T |
11: 67,812,536 (GRCm39) |
N113K |
probably damaging |
Het |
Vcan |
T |
A |
13: 89,841,422 (GRCm39) |
D414V |
probably damaging |
Het |
Vmn1r202 |
T |
A |
13: 22,685,904 (GRCm39) |
Y171F |
possibly damaging |
Het |
Zfp142 |
A |
G |
1: 74,612,795 (GRCm39) |
S451P |
probably damaging |
Het |
Zfp516 |
A |
G |
18: 82,975,536 (GRCm39) |
D578G |
probably damaging |
Het |
Zfp90 |
G |
A |
8: 107,152,120 (GRCm39) |
C611Y |
probably damaging |
Het |
Zfp954 |
A |
G |
7: 7,118,609 (GRCm39) |
C312R |
probably damaging |
Het |
Zmym3 |
A |
T |
X: 100,450,993 (GRCm39) |
V1208D |
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 |
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'- GGCAACTTGCTGATTCTATTGG -3'
(R):5'- ATCTGAGCACCATTCAGGAAC -3'
Sequencing Primer
(F):5'- CAACTTGCTGATTCTATTGGAACATC -3'
(R):5'- GAGCCTTGCCCATCACG -3'
|
Posted On |
2014-09-18 |