Incidental Mutation 'R5756:Usp40'
| ID |
445023 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp40
|
| Ensembl Gene |
ENSMUSG00000005501 |
| Gene Name |
ubiquitin specific peptidase 40 |
| Synonyms |
B230215L03Rik |
| MMRRC Submission |
043359-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5756 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
87872841-87936273 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 87879413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 960
(R960Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040783]
[ENSMUST00000187758]
[ENSMUST00000188332]
|
| AlphaFold |
Q8BWR4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040783
AA Change: R960Q
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000038533
Gene: ENSMUSG00000005501
AA Change: R960Q
| 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 |
possibly damaging
Transcript: ENSMUST00000187758
AA Change: R1049Q
PolyPhen 2
Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000140107
Gene: ENSMUSG00000005501
AA Change: R1049Q
| 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 |
0.0962 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (60/60) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579C12Rik |
A |
G |
9: 89,010,919 (GRCm39) |
|
noncoding transcript |
Het |
| Aqp6 |
A |
T |
15: 99,500,623 (GRCm39) |
I183F |
probably damaging |
Het |
| Asap1 |
A |
T |
15: 64,039,556 (GRCm39) |
M218K |
probably damaging |
Het |
| Astn2 |
G |
A |
4: 66,037,425 (GRCm39) |
|
probably benign |
Het |
| Bmp5 |
A |
G |
9: 75,683,649 (GRCm39) |
D92G |
probably benign |
Het |
| Cables1 |
A |
G |
18: 12,074,410 (GRCm39) |
D511G |
probably damaging |
Het |
| Cacna1e |
A |
G |
1: 154,347,383 (GRCm39) |
M928T |
probably benign |
Het |
| Calcoco1 |
T |
C |
15: 102,628,086 (GRCm39) |
N16S |
probably benign |
Het |
| Catspere2 |
A |
T |
1: 177,943,793 (GRCm39) |
Q710L |
unknown |
Het |
| Coro7 |
C |
T |
16: 4,450,148 (GRCm39) |
R567Q |
probably damaging |
Het |
| Dgki |
C |
T |
6: 36,913,993 (GRCm39) |
|
probably benign |
Het |
| Dusp11 |
T |
C |
6: 85,929,339 (GRCm39) |
I147V |
probably damaging |
Het |
| Eif2ak4 |
T |
C |
2: 118,293,221 (GRCm39) |
I1259T |
possibly damaging |
Het |
| Elapor2 |
A |
C |
5: 9,512,995 (GRCm39) |
K996N |
probably damaging |
Het |
| Etfdh |
T |
C |
3: 79,521,063 (GRCm39) |
I219V |
probably benign |
Het |
| Ffar4 |
C |
T |
19: 38,102,406 (GRCm39) |
T347I |
probably damaging |
Het |
| Fgf3 |
G |
A |
7: 144,396,688 (GRCm39) |
S234N |
probably benign |
Het |
| Fnta |
A |
T |
8: 26,499,735 (GRCm39) |
I155N |
possibly damaging |
Het |
| Gcm2 |
G |
A |
13: 41,263,372 (GRCm39) |
T20M |
probably damaging |
Het |
| Ggt5 |
A |
T |
10: 75,440,607 (GRCm39) |
M243L |
probably benign |
Het |
| Ggta1 |
T |
C |
2: 35,292,395 (GRCm39) |
Y304C |
probably damaging |
Het |
| Gm5454 |
A |
G |
13: 103,492,855 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hrc |
T |
C |
7: 44,986,130 (GRCm39) |
V427A |
possibly damaging |
Het |
| Ibtk |
C |
G |
9: 85,613,307 (GRCm39) |
V219L |
possibly damaging |
Het |
| Ift140 |
A |
G |
17: 25,247,787 (GRCm39) |
H215R |
possibly damaging |
Het |
| Itln1 |
A |
G |
1: 171,344,485 (GRCm39) |
|
probably benign |
Het |
| Kif13b |
T |
C |
14: 64,973,754 (GRCm39) |
I368T |
probably damaging |
Het |
| Lars2 |
T |
C |
9: 123,267,264 (GRCm39) |
Y529H |
probably damaging |
Het |
| Lrrc55 |
G |
A |
2: 85,026,727 (GRCm39) |
T99I |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,371,410 (GRCm39) |
I4156N |
probably damaging |
Het |
| Myo1c |
T |
G |
11: 75,549,240 (GRCm39) |
M137R |
probably benign |
Het |
| Or51i1 |
T |
C |
7: 103,670,889 (GRCm39) |
D212G |
probably damaging |
Het |
| Or6c8b |
A |
G |
10: 128,882,095 (GRCm39) |
V279A |
probably benign |
Het |
| Or8b54 |
T |
A |
9: 38,686,554 (GRCm39) |
M1K |
probably null |
Het |
| Pde7a |
A |
G |
3: 19,319,009 (GRCm39) |
V12A |
probably benign |
Het |
| Phyhip |
T |
G |
14: 70,704,532 (GRCm39) |
C250W |
probably damaging |
Het |
| Pisd |
G |
A |
5: 32,895,842 (GRCm39) |
T412I |
probably damaging |
Het |
| Polr3c |
T |
C |
3: 96,621,450 (GRCm39) |
N444S |
probably damaging |
Het |
| Sart1 |
T |
C |
19: 5,430,497 (GRCm39) |
E750G |
probably damaging |
Het |
| Sh3rf3 |
T |
C |
10: 58,940,204 (GRCm39) |
V675A |
probably damaging |
Het |
| Slc4a11 |
G |
T |
2: 130,529,783 (GRCm39) |
D307E |
probably benign |
Het |
| Slc6a16 |
A |
T |
7: 44,910,274 (GRCm39) |
I315F |
possibly damaging |
Het |
| Smarca5 |
A |
C |
8: 81,437,233 (GRCm39) |
S708A |
probably benign |
Het |
| Sv2c |
T |
C |
13: 96,122,475 (GRCm39) |
I434V |
probably benign |
Het |
| Tars3 |
A |
G |
7: 65,325,724 (GRCm39) |
K433E |
probably benign |
Het |
| Tbx15 |
A |
T |
3: 99,220,402 (GRCm39) |
I165F |
probably damaging |
Het |
| Tep1 |
C |
T |
14: 51,074,836 (GRCm39) |
|
probably null |
Het |
| Tex15 |
G |
A |
8: 34,065,861 (GRCm39) |
G1764S |
probably benign |
Het |
| Tnfrsf19 |
A |
G |
14: 61,262,224 (GRCm39) |
L13P |
probably benign |
Het |
| Tnnt3 |
G |
A |
7: 142,056,495 (GRCm39) |
|
probably null |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Usp24 |
T |
A |
4: 106,219,680 (GRCm39) |
I597K |
probably damaging |
Het |
| Vps53 |
A |
T |
11: 75,983,156 (GRCm39) |
|
probably benign |
Het |
| Xylt1 |
C |
T |
7: 117,249,927 (GRCm39) |
T699I |
probably damaging |
Het |
| Zfp81 |
A |
C |
17: 33,553,307 (GRCm39) |
Y502* |
probably null |
Het |
| Zfyve26 |
T |
A |
12: 79,311,131 (GRCm39) |
H145L |
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 |
|
R5629:Usp40
|
UTSW |
1 |
87,908,731 (GRCm39) |
missense |
probably benign |
|
|
R5696:Usp40
|
UTSW |
1 |
87,923,474 (GRCm39) |
missense |
probably benign |
0.27 |
|
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'- ACAGTCGATGTTGTTACACCAG -3'
(R):5'- GAGGAGCCACTGCAGTGTTATAC -3'
Sequencing Primer
(F):5'- GGCTGACCTTAAACTTCTGGTGC -3'
(R):5'- GAGCCACTGCAGTGTTATACTCTCC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation