Incidental Mutation 'IGL02615:Usp38'
ID |
300632 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Usp38
|
Ensembl Gene |
ENSMUSG00000038250 |
Gene Name |
ubiquitin specific peptidase 38 |
Synonyms |
4833420O05Rik, 4631402N15Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02615
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
81707362-81741557 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 81711780 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 752
(M752V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039943
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042724]
|
AlphaFold |
Q8BW70 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042724
AA Change: M752V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000039943 Gene: ENSMUSG00000038250 AA Change: M752V
Domain | Start | End | E-Value | Type |
SCOP:d1gw5a_
|
1 |
365 |
5e-3 |
SMART |
Pfam:UCH
|
444 |
946 |
1.8e-47 |
PFAM |
Pfam:UCH_1
|
445 |
921 |
2.2e-23 |
PFAM |
low complexity region
|
995 |
1006 |
N/A |
INTRINSIC |
low complexity region
|
1019 |
1033 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
G |
T |
5: 138,644,402 (GRCm39) |
E96* |
probably null |
Het |
Adck5 |
C |
T |
15: 76,473,367 (GRCm39) |
S72L |
possibly damaging |
Het |
Afdn |
A |
G |
17: 14,046,238 (GRCm39) |
H404R |
probably benign |
Het |
Aph1c |
A |
T |
9: 66,726,688 (GRCm39) |
V222E |
possibly damaging |
Het |
Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
Bcl2l13 |
A |
T |
6: 120,839,828 (GRCm39) |
D42V |
probably damaging |
Het |
Bhlhe22 |
C |
T |
3: 18,109,064 (GRCm39) |
T38I |
possibly damaging |
Het |
Ccdc51 |
A |
T |
9: 108,918,503 (GRCm39) |
T31S |
probably benign |
Het |
Ctbp2 |
A |
G |
7: 132,597,076 (GRCm39) |
I669T |
probably benign |
Het |
Dennd4c |
A |
G |
4: 86,739,704 (GRCm39) |
T998A |
probably benign |
Het |
Dpp4 |
T |
C |
2: 62,189,672 (GRCm39) |
Y410C |
probably damaging |
Het |
Gli2 |
T |
A |
1: 118,772,128 (GRCm39) |
N526Y |
probably damaging |
Het |
Ighv1-64 |
A |
G |
12: 115,471,307 (GRCm39) |
I70T |
possibly damaging |
Het |
Mphosph10 |
A |
T |
7: 64,030,793 (GRCm39) |
|
probably benign |
Het |
Mrps34 |
A |
G |
17: 25,114,767 (GRCm39) |
|
probably null |
Het |
Myo1f |
A |
T |
17: 33,823,630 (GRCm39) |
I1053L |
probably benign |
Het |
Nckap5l |
G |
A |
15: 99,327,263 (GRCm39) |
P142L |
possibly damaging |
Het |
Platr26 |
T |
A |
2: 71,560,770 (GRCm39) |
|
noncoding transcript |
Het |
Rag2 |
T |
A |
2: 101,459,913 (GRCm39) |
Y74* |
probably null |
Het |
Rnf213 |
A |
T |
11: 119,331,615 (GRCm39) |
M2275L |
probably damaging |
Het |
Rsbn1 |
T |
A |
3: 103,861,068 (GRCm39) |
L498Q |
probably damaging |
Het |
Scp2 |
A |
G |
4: 107,964,828 (GRCm39) |
V62A |
probably benign |
Het |
Spag17 |
A |
G |
3: 99,979,401 (GRCm39) |
I1421V |
probably benign |
Het |
Spata31f1e |
C |
T |
4: 42,793,027 (GRCm39) |
M368I |
probably benign |
Het |
St6galnac4 |
A |
G |
2: 32,484,216 (GRCm39) |
H138R |
probably benign |
Het |
Syne2 |
T |
A |
12: 76,143,768 (GRCm39) |
M1045K |
probably damaging |
Het |
Tbxas1 |
C |
T |
6: 39,004,800 (GRCm39) |
T349M |
probably damaging |
Het |
U2surp |
T |
G |
9: 95,375,284 (GRCm39) |
D146A |
probably benign |
Het |
|
Other mutations in Usp38 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01151:Usp38
|
APN |
8 |
81,740,469 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01373:Usp38
|
APN |
8 |
81,716,647 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02089:Usp38
|
APN |
8 |
81,712,343 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL02528:Usp38
|
APN |
8 |
81,719,864 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02538:Usp38
|
APN |
8 |
81,712,187 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03340:Usp38
|
APN |
8 |
81,738,905 (GRCm39) |
missense |
probably damaging |
1.00 |
P0033:Usp38
|
UTSW |
8 |
81,708,525 (GRCm39) |
missense |
probably benign |
0.12 |
R0313:Usp38
|
UTSW |
8 |
81,711,071 (GRCm39) |
nonsense |
probably null |
|
R0331:Usp38
|
UTSW |
8 |
81,722,469 (GRCm39) |
missense |
probably benign |
0.00 |
R0497:Usp38
|
UTSW |
8 |
81,711,053 (GRCm39) |
splice site |
probably benign |
|
R0594:Usp38
|
UTSW |
8 |
81,731,995 (GRCm39) |
missense |
probably damaging |
0.97 |
R0632:Usp38
|
UTSW |
8 |
81,740,779 (GRCm39) |
missense |
probably benign |
0.03 |
R1355:Usp38
|
UTSW |
8 |
81,711,662 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1500:Usp38
|
UTSW |
8 |
81,722,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R1566:Usp38
|
UTSW |
8 |
81,711,432 (GRCm39) |
missense |
probably benign |
0.00 |
R1880:Usp38
|
UTSW |
8 |
81,727,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R4161:Usp38
|
UTSW |
8 |
81,719,967 (GRCm39) |
missense |
probably damaging |
1.00 |
R4176:Usp38
|
UTSW |
8 |
81,719,928 (GRCm39) |
missense |
probably benign |
0.33 |
R4882:Usp38
|
UTSW |
8 |
81,708,606 (GRCm39) |
nonsense |
probably null |
|
R5344:Usp38
|
UTSW |
8 |
81,712,392 (GRCm39) |
missense |
possibly damaging |
0.76 |
R5481:Usp38
|
UTSW |
8 |
81,719,952 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5564:Usp38
|
UTSW |
8 |
81,711,717 (GRCm39) |
missense |
probably damaging |
0.96 |
R5897:Usp38
|
UTSW |
8 |
81,732,082 (GRCm39) |
missense |
probably benign |
0.03 |
R6111:Usp38
|
UTSW |
8 |
81,740,551 (GRCm39) |
missense |
probably damaging |
1.00 |
R6746:Usp38
|
UTSW |
8 |
81,740,920 (GRCm39) |
missense |
possibly damaging |
0.80 |
R6912:Usp38
|
UTSW |
8 |
81,719,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R7051:Usp38
|
UTSW |
8 |
81,727,750 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7483:Usp38
|
UTSW |
8 |
81,741,190 (GRCm39) |
start gained |
probably benign |
|
R7525:Usp38
|
UTSW |
8 |
81,740,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R7565:Usp38
|
UTSW |
8 |
81,708,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R7915:Usp38
|
UTSW |
8 |
81,727,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R7934:Usp38
|
UTSW |
8 |
81,711,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R7988:Usp38
|
UTSW |
8 |
81,740,945 (GRCm39) |
missense |
probably benign |
0.01 |
R8062:Usp38
|
UTSW |
8 |
81,711,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R8340:Usp38
|
UTSW |
8 |
81,712,031 (GRCm39) |
missense |
probably benign |
|
R8514:Usp38
|
UTSW |
8 |
81,712,346 (GRCm39) |
missense |
probably benign |
0.01 |
R8919:Usp38
|
UTSW |
8 |
81,708,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R9119:Usp38
|
UTSW |
8 |
81,711,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R9664:Usp38
|
UTSW |
8 |
81,741,164 (GRCm39) |
start gained |
probably benign |
|
RF016:Usp38
|
UTSW |
8 |
81,740,522 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2015-04-16 |