Incidental Mutation 'R4944:Usp40'
| ID |
383320 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp40
|
| Ensembl Gene |
ENSMUSG00000005501 |
| Gene Name |
ubiquitin specific peptidase 40 |
| Synonyms |
B230215L03Rik |
| MMRRC Submission |
042541-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4944 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
87872841-87936273 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87880077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1038
(N1038S)
|
| 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: N949S
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000038533
Gene: ENSMUSG00000005501
AA Change: N949S
| 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: N1038S
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000140107
Gene: ENSMUSG00000005501
AA Change: N1038S
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (67/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
G |
A |
5: 8,984,327 (GRCm39) |
|
probably null |
Het |
| Angptl7 |
C |
G |
4: 148,584,534 (GRCm39) |
Q71H |
probably damaging |
Het |
| Arhgap30 |
A |
T |
1: 171,229,822 (GRCm39) |
N176Y |
probably damaging |
Het |
| Armc9 |
T |
A |
1: 86,202,256 (GRCm39) |
S805T |
probably damaging |
Het |
| Atxn1 |
T |
G |
13: 45,720,407 (GRCm39) |
H496P |
probably damaging |
Het |
| Cabin1 |
C |
T |
10: 75,557,197 (GRCm39) |
G1147D |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,575,255 (GRCm39) |
S597P |
probably damaging |
Het |
| Catsperd |
T |
C |
17: 56,969,744 (GRCm39) |
S613P |
probably damaging |
Het |
| Cdh2 |
A |
G |
18: 16,783,466 (GRCm39) |
Y88H |
probably damaging |
Het |
| Cntn1 |
C |
A |
15: 92,126,549 (GRCm39) |
P47Q |
probably damaging |
Het |
| Col11a2 |
T |
C |
17: 34,261,164 (GRCm39) |
L38P |
possibly damaging |
Het |
| Col5a2 |
T |
G |
1: 45,415,855 (GRCm39) |
I1431L |
possibly damaging |
Het |
| Csmd1 |
C |
T |
8: 16,048,772 (GRCm39) |
G2310D |
probably damaging |
Het |
| Dhcr7 |
T |
A |
7: 143,391,528 (GRCm39) |
I39N |
probably damaging |
Het |
| Dnajc13 |
C |
T |
9: 104,044,586 (GRCm39) |
|
probably benign |
Het |
| Drgx |
G |
T |
14: 32,330,206 (GRCm39) |
Q136H |
probably damaging |
Het |
| Folr2 |
T |
C |
7: 101,489,497 (GRCm39) |
|
probably null |
Het |
| Galnt11 |
T |
C |
5: 25,470,336 (GRCm39) |
I595T |
probably damaging |
Het |
| Gp5 |
G |
A |
16: 30,128,326 (GRCm39) |
A116V |
possibly damaging |
Het |
| Gpn3 |
T |
C |
5: 122,520,303 (GRCm39) |
|
probably benign |
Het |
| Gprin3 |
T |
C |
6: 59,331,644 (GRCm39) |
N221S |
probably benign |
Het |
| Hfm1 |
T |
C |
5: 107,022,079 (GRCm39) |
E989G |
possibly damaging |
Het |
| Ints1 |
T |
C |
5: 139,743,847 (GRCm39) |
|
probably null |
Het |
| Josd2 |
T |
C |
7: 44,120,592 (GRCm39) |
S110P |
probably damaging |
Het |
| Kat14 |
C |
A |
2: 144,217,873 (GRCm39) |
T123K |
probably damaging |
Het |
| Lamtor1 |
C |
T |
7: 101,558,971 (GRCm39) |
T48I |
probably damaging |
Het |
| Lrrc24 |
A |
G |
15: 76,602,546 (GRCm39) |
L113P |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,504,286 (GRCm39) |
T2561A |
possibly damaging |
Het |
| Mog |
T |
C |
17: 37,331,433 (GRCm39) |
E89G |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,874,364 (GRCm39) |
|
probably null |
Het |
| Mtx1 |
T |
C |
3: 89,121,205 (GRCm39) |
Y143C |
probably benign |
Het |
| Nacad |
T |
C |
11: 6,548,507 (GRCm39) |
E1409G |
possibly damaging |
Het |
| Ndst3 |
T |
C |
3: 123,400,676 (GRCm39) |
H410R |
probably damaging |
Het |
| Nkx6-2 |
T |
C |
7: 139,161,486 (GRCm39) |
E233G |
possibly damaging |
Het |
| Oas1h |
A |
G |
5: 121,000,846 (GRCm39) |
E152G |
probably damaging |
Het |
| Or8g22 |
A |
G |
9: 38,958,158 (GRCm39) |
S186P |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,887,269 (GRCm39) |
F222L |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,358,429 (GRCm39) |
S2716G |
probably null |
Het |
| Pla2g4e |
T |
C |
2: 120,001,718 (GRCm39) |
T644A |
probably benign |
Het |
| Plxnd1 |
A |
G |
6: 115,932,726 (GRCm39) |
I1918T |
probably damaging |
Het |
| Psmg1 |
A |
T |
16: 95,790,812 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
G |
A |
4: 76,047,136 (GRCm39) |
R364C |
probably damaging |
Het |
| Rgs22 |
T |
C |
15: 36,026,088 (GRCm39) |
I945V |
possibly damaging |
Het |
| Rgs7bp |
T |
C |
13: 105,088,072 (GRCm39) |
N234S |
probably benign |
Het |
| Rrp7a |
T |
C |
15: 83,004,010 (GRCm39) |
|
probably benign |
Het |
| Scg2 |
T |
A |
1: 79,414,193 (GRCm39) |
R177* |
probably null |
Het |
| Sema4c |
C |
A |
1: 36,589,392 (GRCm39) |
C578F |
probably damaging |
Het |
| Slc1a5 |
T |
A |
7: 16,531,668 (GRCm39) |
|
probably benign |
Het |
| Slc5a3 |
A |
G |
16: 91,875,571 (GRCm39) |
T543A |
possibly damaging |
Het |
| Slx4ip |
T |
A |
2: 136,888,687 (GRCm39) |
F123I |
probably benign |
Het |
| Smtn |
C |
T |
11: 3,472,916 (GRCm39) |
R737H |
probably damaging |
Het |
| Stox2 |
A |
G |
8: 47,866,300 (GRCm39) |
I14T |
possibly damaging |
Het |
| Stradb |
T |
C |
1: 59,019,599 (GRCm39) |
F43L |
probably benign |
Het |
| Szt2 |
T |
C |
4: 118,245,866 (GRCm39) |
D1029G |
probably benign |
Het |
| Taar6 |
T |
C |
10: 23,860,613 (GRCm39) |
Y311C |
probably damaging |
Het |
| Tcea3 |
A |
T |
4: 135,995,404 (GRCm39) |
N249I |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,241,573 (GRCm39) |
M2134T |
probably benign |
Het |
| Tg |
G |
A |
15: 66,636,186 (GRCm39) |
G591D |
probably damaging |
Het |
| Tm4sf20 |
T |
A |
1: 82,746,084 (GRCm39) |
I19F |
probably benign |
Het |
| Top2a |
T |
C |
11: 98,888,676 (GRCm39) |
K1262E |
probably benign |
Het |
| Ube2r2 |
A |
G |
4: 41,190,742 (GRCm39) |
|
probably benign |
Het |
| Usp29 |
T |
C |
7: 6,964,927 (GRCm39) |
S257P |
possibly damaging |
Het |
| Utp25 |
A |
T |
1: 192,797,262 (GRCm39) |
M530K |
probably damaging |
Het |
| Vmn1r121 |
C |
T |
7: 20,831,538 (GRCm39) |
E301K |
probably benign |
Het |
| Vmn2r49 |
T |
A |
7: 9,722,959 (GRCm39) |
H105L |
probably benign |
Het |
| Zgrf1 |
C |
T |
3: 127,355,517 (GRCm39) |
Q248* |
probably null |
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 |
|
|
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'- AGTATGGAGGCTGATGTTCTCCTAG -3'
(R):5'- TTGGTTTATTGCCCCTGACG -3'
Sequencing Primer
(F):5'- CTCCTAGAGTTAACTTGGGCAAG -3'
(R):5'- CCCCAGAGTCAGGTAGTGTTTC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation