Incidental Mutation 'IGL02528:Usp38'
| ID |
297198 |
| 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 # |
IGL02528
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
81707362-81741557 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81719864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 455
(Y455C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042724]
|
| AlphaFold |
Q8BW70 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042724
AA Change: Y455C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039943
Gene: ENSMUSG00000038250
AA Change: Y455C
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211538
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544G11Rik |
T |
A |
6: 65,930,357 (GRCm39) |
|
probably benign |
Het |
| 4933416I08Rik |
T |
A |
X: 52,580,792 (GRCm39) |
N54I |
probably damaging |
Het |
| Abcc2 |
A |
G |
19: 43,786,943 (GRCm39) |
D188G |
probably benign |
Het |
| Akap11 |
T |
C |
14: 78,748,307 (GRCm39) |
Y1360C |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,162,802 (GRCm39) |
V888A |
possibly damaging |
Het |
| C920021L13Rik |
A |
G |
3: 95,794,628 (GRCm39) |
|
probably benign |
Het |
| Ccdc89 |
A |
T |
7: 90,076,819 (GRCm39) |
Q343L |
probably damaging |
Het |
| Cep350 |
A |
T |
1: 155,770,361 (GRCm39) |
M1843K |
probably damaging |
Het |
| Ces2b |
T |
C |
8: 105,561,601 (GRCm39) |
S232P |
probably damaging |
Het |
| Eprs1 |
G |
T |
1: 185,145,686 (GRCm39) |
R1165L |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,206,962 (GRCm39) |
E625G |
probably benign |
Het |
| Evi5l |
T |
C |
8: 4,243,172 (GRCm39) |
V352A |
probably benign |
Het |
| Ggt5 |
T |
C |
10: 75,446,254 (GRCm39) |
|
probably benign |
Het |
| Gm11564 |
T |
A |
11: 99,706,293 (GRCm39) |
R46* |
probably null |
Het |
| Herc2 |
A |
G |
7: 55,758,641 (GRCm39) |
|
probably benign |
Het |
| Kash5 |
T |
C |
7: 44,833,170 (GRCm39) |
|
probably benign |
Het |
| Kcnh8 |
A |
G |
17: 53,110,556 (GRCm39) |
S256G |
probably damaging |
Het |
| Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,990,331 (GRCm39) |
*255W |
probably null |
Het |
| Muc5b |
A |
G |
7: 141,417,754 (GRCm39) |
M3567V |
probably benign |
Het |
| Noxa1 |
A |
G |
2: 24,980,645 (GRCm39) |
|
probably benign |
Het |
| Nsd2 |
T |
C |
5: 34,036,395 (GRCm39) |
|
probably benign |
Het |
| Pcna-ps2 |
A |
T |
19: 9,261,331 (GRCm39) |
I197L |
probably benign |
Het |
| Pde8a |
A |
G |
7: 80,942,937 (GRCm39) |
|
probably benign |
Het |
| Polr1a |
C |
A |
6: 71,941,701 (GRCm39) |
Q1070K |
probably benign |
Het |
| Pum2 |
G |
T |
12: 8,778,696 (GRCm39) |
G449* |
probably null |
Het |
| Rab29 |
T |
C |
1: 131,797,749 (GRCm39) |
|
probably benign |
Het |
| Rpap1 |
T |
A |
2: 119,605,431 (GRCm39) |
|
probably null |
Het |
| Scn7a |
A |
G |
2: 66,530,519 (GRCm39) |
Y609H |
probably damaging |
Het |
| Slit3 |
T |
C |
11: 35,469,801 (GRCm39) |
S268P |
probably benign |
Het |
| Stat2 |
C |
T |
10: 128,126,534 (GRCm39) |
T753I |
probably benign |
Het |
| Susd6 |
T |
C |
12: 80,916,945 (GRCm39) |
V160A |
probably damaging |
Het |
| Tex52 |
A |
G |
6: 128,356,460 (GRCm39) |
E51G |
possibly damaging |
Het |
| Tmem102 |
T |
A |
11: 69,694,532 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,720,582 (GRCm39) |
|
probably benign |
Het |
| Ubtd2 |
T |
A |
11: 32,449,249 (GRCm39) |
L32* |
probably null |
Het |
| Wwp2 |
T |
C |
8: 108,281,099 (GRCm39) |
F671L |
probably benign |
Het |
| Xlr3a |
T |
C |
X: 72,138,573 (GRCm39) |
N29D |
possibly damaging |
Het |
| Zan |
T |
C |
5: 137,463,403 (GRCm39) |
E592G |
possibly damaging |
Het |
| Zmat4 |
T |
A |
8: 24,505,212 (GRCm39) |
S151T |
probably damaging |
Het |
| Znfx1 |
T |
C |
2: 166,892,324 (GRCm39) |
T631A |
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 |
|
IGL02538:Usp38
|
APN |
8 |
81,712,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02615:Usp38
|
APN |
8 |
81,711,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
Incidental Mutation