Incidental Mutation 'R2341:Usp30'
| ID |
246747 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp30
|
| Ensembl Gene |
ENSMUSG00000029592 |
| Gene Name |
ubiquitin specific peptidase 30 |
| Synonyms |
6330590F17Rik, D5Ertd483e |
| MMRRC Submission |
040327-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2341 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114238395-114261571 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 114249241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 182
(R182*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142350
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031588]
[ENSMUST00000200119]
|
| AlphaFold |
Q3UN04 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031588
AA Change: R182*
|
| SMART Domains |
Protein: ENSMUSP00000031588
Gene: ENSMUSG00000029592
AA Change: R182*
| 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 |
noncoding transcript
Transcript: ENSMUST00000196574
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197629
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197936
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198457
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000200119
AA Change: R182*
|
| SMART Domains |
Protein: ENSMUSP00000142350
Gene: ENSMUSG00000029592
AA Change: R182*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
97% (36/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
A |
G |
15: 59,888,212 (GRCm39) |
V76A |
possibly damaging |
Het |
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Anapc4 |
T |
C |
5: 52,999,279 (GRCm39) |
|
probably benign |
Het |
| Anxa4 |
A |
G |
6: 86,720,135 (GRCm39) |
S144P |
probably benign |
Het |
| Bcr |
A |
G |
10: 74,966,944 (GRCm39) |
E517G |
probably damaging |
Het |
| Ccdc57 |
T |
C |
11: 120,751,349 (GRCm39) |
E907G |
probably benign |
Het |
| Chd6 |
TG |
T |
2: 160,807,679 (GRCm39) |
|
probably null |
Het |
| Dock6 |
A |
G |
9: 21,750,782 (GRCm39) |
|
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,177,757 (GRCm39) |
K2031E |
probably damaging |
Het |
| Gm5444 |
T |
C |
13: 4,884,344 (GRCm39) |
|
noncoding transcript |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Ifna16 |
A |
G |
4: 88,594,565 (GRCm39) |
S177P |
probably damaging |
Het |
| Ino80d |
T |
C |
1: 63,104,985 (GRCm39) |
N364D |
possibly damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,855,937 (GRCm39) |
T769A |
probably benign |
Het |
| Ms4a20 |
T |
A |
19: 11,083,157 (GRCm39) |
M88L |
probably benign |
Het |
| Mug1 |
T |
C |
6: 121,861,588 (GRCm39) |
V1350A |
probably benign |
Het |
| Nedd9 |
A |
G |
13: 41,469,987 (GRCm39) |
S389P |
probably damaging |
Het |
| Or10ag57 |
A |
T |
2: 87,218,084 (GRCm39) |
I12F |
probably benign |
Het |
| Or4c11b |
A |
G |
2: 88,624,989 (GRCm39) |
N88D |
probably benign |
Het |
| Or8h8 |
T |
C |
2: 86,752,982 (GRCm39) |
K298R |
possibly damaging |
Het |
| Pole |
A |
T |
5: 110,478,829 (GRCm39) |
I28F |
possibly damaging |
Het |
| Prkce |
C |
A |
17: 86,781,870 (GRCm39) |
P180T |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,723,909 (GRCm39) |
H1995R |
possibly damaging |
Het |
| Rnf144b |
A |
G |
13: 47,373,976 (GRCm39) |
K58E |
probably benign |
Het |
| Rnf43 |
A |
G |
11: 87,622,851 (GRCm39) |
R651G |
probably damaging |
Het |
| Scel |
A |
T |
14: 103,845,606 (GRCm39) |
L580F |
possibly damaging |
Het |
| Scn4b |
G |
A |
9: 45,059,127 (GRCm39) |
V133M |
probably damaging |
Het |
| Sipa1l3 |
T |
C |
7: 29,077,060 (GRCm39) |
N904S |
probably damaging |
Het |
| Sun5 |
A |
G |
2: 153,709,422 (GRCm39) |
|
probably benign |
Het |
| Tanc2 |
T |
C |
11: 105,725,877 (GRCm39) |
V347A |
probably benign |
Het |
| Tmem245 |
T |
C |
4: 56,937,957 (GRCm39) |
Y197C |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Vps35 |
T |
C |
8: 86,001,443 (GRCm39) |
|
probably benign |
Het |
| Xkr7 |
G |
A |
2: 152,896,318 (GRCm39) |
V391M |
possibly damaging |
Het |
| Ythdf3 |
A |
T |
3: 16,257,379 (GRCm39) |
|
probably benign |
Het |
| Zfp110 |
T |
C |
7: 12,583,113 (GRCm39) |
V587A |
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 |
|
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 |
|
R6947:Usp30
|
UTSW |
5 |
114,241,821 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- CGTCTCCTTCAGTTATTGGGAC -3'
(R):5'- AGTGTGCCCTGTTCTTACTGAG -3'
Sequencing Primer
(F):5'- CTCCTTCAGTTATTGGGACTCAGAG -3'
(R):5'- CTGTTCTTACTGAGTGTGAACAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation