Incidental Mutation 'R6947:Usp30'
| ID |
540923 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp30
|
| Ensembl Gene |
ENSMUSG00000029592 |
| Gene Name |
ubiquitin specific peptidase 30 |
| Synonyms |
6330590F17Rik, D5Ertd483e |
| MMRRC Submission |
045060-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6947 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114238395-114261571 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114241821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 88
(S88P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031588]
[ENSMUST00000200119]
[ENSMUST00000202603]
|
| AlphaFold |
Q3UN04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031588
AA Change: S104P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031588
Gene: ENSMUSG00000029592
AA Change: S104P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
16 |
N/A |
INTRINSIC |
|
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
67 |
499 |
2.6e-44 |
PFAM |
|
Pfam:UCH_1
|
68 |
481 |
8.8e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200119
AA Change: S104P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142350
Gene: ENSMUSG00000029592
AA Change: S104P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
16 |
N/A |
INTRINSIC |
|
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
67 |
368 |
2.9e-31 |
PFAM |
|
Pfam:UCH_1
|
68 |
376 |
1e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202603
AA Change: S88P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000144522
Gene: ENSMUSG00000029592
AA Change: S88P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
51 |
144 |
5.8e-11 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.0%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] USP30, a member of the ubiquitin-specific protease family (see USP1, MIM 603478), is a novel mitochondrial deubiquitinating (DUB) enzyme (Nakamura and Hirose, 2008 [PubMed 18287522]).[supplied by OMIM, Dec 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
C |
A |
9: 90,073,857 (GRCm39) |
|
probably null |
Het |
| Adcy4 |
T |
C |
14: 56,015,848 (GRCm39) |
T414A |
possibly damaging |
Het |
| Bop1 |
A |
G |
15: 76,338,188 (GRCm39) |
F561L |
probably damaging |
Het |
| Ccdc18 |
T |
C |
5: 108,309,401 (GRCm39) |
V332A |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,365,918 (GRCm39) |
T1042A |
probably damaging |
Het |
| Cnot8 |
G |
T |
11: 58,008,331 (GRCm39) |
V266L |
probably benign |
Het |
| Cxxc4 |
C |
T |
3: 133,946,277 (GRCm39) |
S286F |
possibly damaging |
Het |
| Cyp2d12 |
A |
T |
15: 82,443,248 (GRCm39) |
I386L |
probably benign |
Het |
| Dgka |
A |
T |
10: 128,568,884 (GRCm39) |
I227N |
probably damaging |
Het |
| Eif2d |
T |
C |
1: 131,092,404 (GRCm39) |
V354A |
probably benign |
Het |
| Fgr |
T |
A |
4: 132,722,380 (GRCm39) |
|
probably null |
Het |
| Idnk |
A |
G |
13: 58,308,055 (GRCm39) |
|
probably null |
Het |
| Kmt2e |
T |
C |
5: 23,702,543 (GRCm39) |
S952P |
probably damaging |
Het |
| Kng1 |
A |
G |
16: 22,896,124 (GRCm39) |
H343R |
probably benign |
Het |
| Lgals8 |
G |
A |
13: 12,469,682 (GRCm39) |
|
probably benign |
Het |
| Lrit3 |
T |
A |
3: 129,582,883 (GRCm39) |
Q368L |
probably benign |
Het |
| Lypd8 |
A |
T |
11: 58,273,592 (GRCm39) |
T24S |
probably benign |
Het |
| Map3k4 |
G |
A |
17: 12,479,456 (GRCm39) |
Q704* |
probably null |
Het |
| Mcm3ap |
A |
G |
10: 76,351,500 (GRCm39) |
I1948V |
probably benign |
Het |
| Mettl25 |
A |
G |
10: 105,662,053 (GRCm39) |
F306L |
probably benign |
Het |
| Mos |
A |
C |
4: 3,871,585 (GRCm39) |
V77G |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,596,177 (GRCm39) |
R3130C |
possibly damaging |
Het |
| Naxd |
T |
C |
8: 11,552,757 (GRCm39) |
V59A |
probably damaging |
Het |
| Nup107 |
A |
G |
10: 117,593,179 (GRCm39) |
V833A |
probably benign |
Het |
| Or1p4-ps1 |
C |
T |
11: 74,208,370 (GRCm39) |
S173L |
unknown |
Het |
| Or5m10b |
T |
C |
2: 85,699,271 (GRCm39) |
F112L |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,577,021 (GRCm39) |
|
probably null |
Het |
| Pde10a |
T |
A |
17: 9,188,424 (GRCm39) |
I908N |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,228,075 (GRCm39) |
K1058R |
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,759,383 (GRCm39) |
F548Y |
probably damaging |
Het |
| Rad54b |
T |
G |
4: 11,569,859 (GRCm39) |
S58R |
possibly damaging |
Het |
| Rbm20 |
G |
A |
19: 53,839,696 (GRCm39) |
G895D |
probably damaging |
Het |
| Rgs22 |
T |
C |
15: 36,104,036 (GRCm39) |
|
probably null |
Het |
| Rhobtb3 |
A |
G |
13: 76,058,785 (GRCm39) |
S338P |
probably benign |
Het |
| Ruvbl2 |
A |
G |
7: 45,074,373 (GRCm39) |
|
probably null |
Het |
| Slc16a12 |
A |
G |
19: 34,650,007 (GRCm39) |
F343L |
probably benign |
Het |
| Slc22a28 |
A |
G |
19: 8,041,875 (GRCm39) |
L444P |
possibly damaging |
Het |
| Slc44a4 |
A |
T |
17: 35,147,044 (GRCm39) |
Q358L |
probably null |
Het |
| Sowaha |
A |
G |
11: 53,369,225 (GRCm39) |
F504L |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,125,789 (GRCm39) |
L6035P |
probably damaging |
Het |
| Thbs2 |
A |
T |
17: 14,910,029 (GRCm39) |
M190K |
possibly damaging |
Het |
| Tmem171 |
A |
G |
13: 98,824,950 (GRCm39) |
F227L |
possibly damaging |
Het |
| Trp53 |
A |
G |
11: 69,479,307 (GRCm39) |
K162E |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,724,732 (GRCm39) |
K2098* |
probably null |
Het |
| Zfp276 |
C |
A |
8: 123,981,643 (GRCm39) |
D63E |
probably benign |
Het |
|
| Other mutations in Usp30 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03353:Usp30
|
APN |
5 |
114,259,119 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03384:Usp30
|
APN |
5 |
114,259,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0095:Usp30
|
UTSW |
5 |
114,243,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0972:Usp30
|
UTSW |
5 |
114,249,925 (GRCm39) |
splice site |
probably benign |
|
|
R1184:Usp30
|
UTSW |
5 |
114,241,888 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1589:Usp30
|
UTSW |
5 |
114,251,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1678:Usp30
|
UTSW |
5 |
114,259,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2127:Usp30
|
UTSW |
5 |
114,249,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2129:Usp30
|
UTSW |
5 |
114,249,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2341:Usp30
|
UTSW |
5 |
114,249,241 (GRCm39) |
nonsense |
probably null |
|
|
R4677:Usp30
|
UTSW |
5 |
114,257,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5191:Usp30
|
UTSW |
5 |
114,203,755 (GRCm39) |
start gained |
probably benign |
|
|
R5956:Usp30
|
UTSW |
5 |
114,257,682 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6730:Usp30
|
UTSW |
5 |
114,241,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7572:Usp30
|
UTSW |
5 |
114,258,308 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7653:Usp30
|
UTSW |
5 |
114,259,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7654:Usp30
|
UTSW |
5 |
114,240,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7794:Usp30
|
UTSW |
5 |
114,251,033 (GRCm39) |
nonsense |
probably null |
|
|
R8063:Usp30
|
UTSW |
5 |
114,238,524 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8100:Usp30
|
UTSW |
5 |
114,249,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8393:Usp30
|
UTSW |
5 |
114,259,826 (GRCm39) |
nonsense |
probably null |
|
|
R9035:Usp30
|
UTSW |
5 |
114,243,877 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGGCTCCATGCATAGATG -3'
(R):5'- TCTTAGGTTCTCAGTGCACACC -3'
Sequencing Primer
(F):5'- CATAGATGCCGGGTCCCAGAAG -3'
(R):5'- TCAGTGCACACCCCTCC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation