Incidental Mutation 'R0095:Usp30'
| ID |
64029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp30
|
| Ensembl Gene |
ENSMUSG00000029592 |
| Gene Name |
ubiquitin specific peptidase 30 |
| Synonyms |
6330590F17Rik, D5Ertd483e |
| MMRRC Submission |
038381-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0095 (G1)
|
| Quality Score |
214 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
114238395-114261571 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 114243901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 157
(F157I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031588
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031588]
[ENSMUST00000200119]
[ENSMUST00000202603]
|
| AlphaFold |
Q3UN04 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031588
AA Change: F157I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031588
Gene: ENSMUSG00000029592
AA Change: F157I
| 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 |
probably damaging
Transcript: ENSMUST00000200119
AA Change: F157I
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142350
Gene: ENSMUSG00000029592
AA Change: F157I
| 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 damaging
Transcript: ENSMUST00000202603
AA Change: F141I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144522
Gene: ENSMUSG00000029592
AA Change: F141I
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.7%
|
| Validation Efficiency |
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa8 |
G |
A |
14: 33,808,028 (GRCm39) |
A6T |
probably benign |
Het |
| Bicc1 |
T |
A |
10: 70,796,988 (GRCm39) |
I42F |
probably damaging |
Het |
| Cutc |
T |
C |
19: 43,741,638 (GRCm39) |
W13R |
probably benign |
Het |
| F5 |
A |
T |
1: 164,019,537 (GRCm39) |
R671* |
probably null |
Het |
| Fer |
A |
T |
17: 64,248,321 (GRCm39) |
E361V |
possibly damaging |
Het |
| Hnrnpa3 |
G |
T |
2: 75,492,040 (GRCm39) |
R52L |
probably damaging |
Het |
| Igsf10 |
A |
T |
3: 59,238,617 (GRCm39) |
Y521* |
probably null |
Het |
| Lratd2 |
T |
C |
15: 60,695,425 (GRCm39) |
Y107C |
probably damaging |
Het |
| Mmp1a |
G |
A |
9: 7,465,621 (GRCm39) |
G186D |
possibly damaging |
Het |
| Naip1 |
T |
C |
13: 100,559,591 (GRCm39) |
T1138A |
probably benign |
Het |
| Necab1 |
T |
A |
4: 14,960,027 (GRCm39) |
N307Y |
possibly damaging |
Het |
| Or5p81 |
A |
C |
7: 108,267,252 (GRCm39) |
I210L |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,474,323 (GRCm39) |
F84L |
probably damaging |
Het |
| Rpl6 |
T |
G |
5: 121,343,902 (GRCm39) |
V115G |
possibly damaging |
Het |
| Sec16a |
A |
T |
2: 26,315,772 (GRCm39) |
|
probably null |
Het |
| Tpsg1 |
T |
C |
17: 25,591,528 (GRCm39) |
W43R |
probably damaging |
Het |
| Unc45a |
T |
C |
7: 79,979,291 (GRCm39) |
D567G |
probably damaging |
Het |
| Zfp345 |
T |
A |
2: 150,314,220 (GRCm39) |
H439L |
probably damaging |
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 |
|
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 |
|
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'- ACATGACTTGCTCACTCCGCAC -3'
(R):5'- GAAGCCAGCAGCTTTTCCCTTTG -3'
Sequencing Primer
(F):5'- CACTGTGTGAGGCTCCAAAG -3'
(R):5'- CTACCTACTGAGTGACAAGTGCTG -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation