Incidental Mutation 'IGL03397:Usp39'
| ID |
421301 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Usp39
|
| Ensembl Gene |
ENSMUSG00000056305 |
| Gene Name |
ubiquitin specific peptidase 39 |
| Synonyms |
SAD1, CGI-21, D6Wsu157e |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
IGL03397
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
72295749-72322190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72313296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 298
(M298T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070345]
|
| AlphaFold |
Q3TIX9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070345
AA Change: M298T
PolyPhen 2
Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000064515
Gene: ENSMUSG00000056305
AA Change: M298T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
73 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
133 |
154 |
5.07e0 |
SMART |
|
Pfam:UCH
|
223 |
551 |
3.9e-45 |
PFAM |
|
Pfam:UCH_1
|
224 |
533 |
1.3e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154799
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206262
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
T |
19: 43,772,743 (GRCm39) |
Y51F |
probably benign |
Het |
| Ankrd42 |
G |
A |
7: 92,268,762 (GRCm39) |
L194F |
probably damaging |
Het |
| Ccdc81 |
G |
T |
7: 89,546,036 (GRCm39) |
T56N |
probably damaging |
Het |
| Cdh10 |
T |
C |
15: 18,964,114 (GRCm39) |
I92T |
probably damaging |
Het |
| Csta3 |
A |
T |
16: 36,033,984 (GRCm39) |
I55F |
probably damaging |
Het |
| Eif2b4 |
A |
G |
5: 31,344,997 (GRCm39) |
I550T |
probably damaging |
Het |
| Epb41l3 |
A |
G |
17: 69,555,687 (GRCm39) |
Y304C |
probably damaging |
Het |
| Gm10244 |
A |
G |
6: 39,397,740 (GRCm39) |
|
probably benign |
Het |
| H2bc14 |
T |
C |
13: 21,906,551 (GRCm39) |
I95T |
possibly damaging |
Het |
| Lrrc74a |
T |
C |
12: 86,805,312 (GRCm39) |
V378A |
probably benign |
Het |
| Mcm6 |
C |
T |
1: 128,272,039 (GRCm39) |
D453N |
probably damaging |
Het |
| Mctp2 |
A |
G |
7: 71,909,025 (GRCm39) |
L96P |
probably damaging |
Het |
| Nlrp5 |
G |
A |
7: 23,112,759 (GRCm39) |
V139M |
probably damaging |
Het |
| Nrcam |
T |
G |
12: 44,606,540 (GRCm39) |
S429A |
probably damaging |
Het |
| Or5an11 |
C |
A |
19: 12,245,866 (GRCm39) |
Q91K |
probably benign |
Het |
| Pdgfrb |
A |
T |
18: 61,212,753 (GRCm39) |
T886S |
probably benign |
Het |
| Rapgef5 |
T |
A |
12: 117,712,176 (GRCm39) |
F754L |
probably damaging |
Het |
| Sbf1 |
T |
C |
15: 89,172,924 (GRCm39) |
K1863R |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,843,212 (GRCm39) |
T751A |
probably benign |
Het |
| Six3 |
G |
T |
17: 85,929,074 (GRCm39) |
R136L |
probably damaging |
Het |
| Slc6a12 |
A |
G |
6: 121,334,004 (GRCm39) |
D280G |
probably damaging |
Het |
| Sox2 |
A |
G |
3: 34,704,686 (GRCm39) |
D41G |
probably damaging |
Het |
| Stxbp4 |
A |
T |
11: 90,431,060 (GRCm39) |
L417M |
probably damaging |
Het |
| Tcam1 |
A |
G |
11: 106,176,212 (GRCm39) |
I313V |
probably benign |
Het |
| Tex55 |
G |
A |
16: 38,649,055 (GRCm39) |
P18L |
probably damaging |
Het |
| Tgm2 |
T |
C |
2: 157,962,178 (GRCm39) |
Y547C |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 129,523,901 (GRCm39) |
R312G |
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,678,394 (GRCm39) |
|
probably benign |
Het |
| Vmn2r85 |
C |
T |
10: 130,261,263 (GRCm39) |
C358Y |
probably damaging |
Het |
| Zscan18 |
A |
T |
7: 12,507,488 (GRCm39) |
S497T |
probably damaging |
Het |
|
| Other mutations in Usp39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00654:Usp39
|
APN |
6 |
72,305,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01065:Usp39
|
APN |
6 |
72,316,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01669:Usp39
|
APN |
6 |
72,315,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03089:Usp39
|
APN |
6 |
72,305,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0561:Usp39
|
UTSW |
6 |
72,313,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3236:Usp39
|
UTSW |
6 |
72,315,372 (GRCm39) |
splice site |
probably benign |
|
|
R3552:Usp39
|
UTSW |
6 |
72,314,815 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4010:Usp39
|
UTSW |
6 |
72,313,468 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4854:Usp39
|
UTSW |
6 |
72,302,665 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5502:Usp39
|
UTSW |
6 |
72,305,670 (GRCm39) |
missense |
probably benign |
|
|
R6868:Usp39
|
UTSW |
6 |
72,314,734 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6887:Usp39
|
UTSW |
6 |
72,310,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7313:Usp39
|
UTSW |
6 |
72,313,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7429:Usp39
|
UTSW |
6 |
72,319,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7430:Usp39
|
UTSW |
6 |
72,319,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7431:Usp39
|
UTSW |
6 |
72,313,251 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7544:Usp39
|
UTSW |
6 |
72,319,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7548:Usp39
|
UTSW |
6 |
72,321,996 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7741:Usp39
|
UTSW |
6 |
72,315,521 (GRCm39) |
splice site |
probably benign |
|
|
R8377:Usp39
|
UTSW |
6 |
72,305,657 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8405:Usp39
|
UTSW |
6 |
72,305,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9333:Usp39
|
UTSW |
6 |
72,314,710 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9496:Usp39
|
UTSW |
6 |
72,302,759 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2016-08-02 |
Incidental Mutation