Incidental Mutation 'IGL03353:Usp30'
| ID |
419820 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Usp30
|
| Ensembl Gene |
ENSMUSG00000029592 |
| Gene Name |
ubiquitin specific peptidase 30 |
| Synonyms |
6330590F17Rik, D5Ertd483e |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03353
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
114238395-114261571 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114259119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 398
(T398A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142350
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031588]
[ENSMUST00000053657]
[ENSMUST00000112279]
[ENSMUST00000200119]
|
| AlphaFold |
Q3UN04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031588
AA Change: T399A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000031588
Gene: ENSMUSG00000029592
AA Change: T399A
| 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: ENSMUST00000053657
|
| SMART Domains |
Protein: ENSMUSP00000056043
Gene: ENSMUSG00000044339
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
28 |
N/A |
INTRINSIC |
|
Pfam:2OG-FeII_Oxy_2
|
47 |
232 |
1.9e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112279
|
| SMART Domains |
Protein: ENSMUSP00000107898
Gene: ENSMUSG00000044339
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
28 |
N/A |
INTRINSIC |
|
Pfam:2OG-FeII_Oxy_2
|
47 |
232 |
5.4e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197936
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200119
AA Change: T398A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000142350
Gene: ENSMUSG00000029592
AA Change: T398A
| 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 |
|
| Coding Region Coverage |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco1 |
A |
G |
4: 40,175,893 (GRCm39) |
I176V |
probably damaging |
Het |
| Aldh1l2 |
T |
C |
10: 83,358,777 (GRCm39) |
T73A |
probably benign |
Het |
| Btaf1 |
G |
T |
19: 36,969,900 (GRCm39) |
L1191F |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,718,331 (GRCm39) |
|
probably benign |
Het |
| Clcn3 |
T |
C |
8: 61,376,022 (GRCm39) |
T624A |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,679,366 (GRCm39) |
V537A |
probably damaging |
Het |
| Dock4 |
A |
G |
12: 40,867,757 (GRCm39) |
|
probably null |
Het |
| Dsp |
A |
T |
13: 38,370,671 (GRCm39) |
Y858F |
probably damaging |
Het |
| Eya1 |
A |
G |
1: 14,249,751 (GRCm39) |
Y550H |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,261,926 (GRCm39) |
K204E |
probably damaging |
Het |
| Frrs1l |
G |
A |
4: 56,968,121 (GRCm39) |
T217M |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,807,737 (GRCm39) |
S1352N |
possibly damaging |
Het |
| Hfm1 |
T |
C |
5: 107,004,795 (GRCm39) |
D1177G |
probably damaging |
Het |
| Itih4 |
G |
A |
14: 30,609,801 (GRCm39) |
V44I |
probably damaging |
Het |
| Kif2c |
A |
G |
4: 117,023,533 (GRCm39) |
M393T |
probably benign |
Het |
| Klhdc10 |
T |
A |
6: 30,447,991 (GRCm39) |
|
probably benign |
Het |
| Lrch1 |
G |
T |
14: 75,095,482 (GRCm39) |
H119Q |
probably damaging |
Het |
| Ncam2 |
A |
T |
16: 81,231,788 (GRCm39) |
N84I |
probably benign |
Het |
| Nlrx1 |
A |
G |
9: 44,167,890 (GRCm39) |
V669A |
probably benign |
Het |
| Pdcl3 |
A |
G |
1: 39,034,917 (GRCm39) |
N158S |
probably benign |
Het |
| Polk |
C |
T |
13: 96,625,719 (GRCm39) |
A362T |
probably damaging |
Het |
| Rnf40 |
T |
A |
7: 127,192,063 (GRCm39) |
L403* |
probably null |
Het |
| Skint5 |
T |
C |
4: 113,599,379 (GRCm39) |
D720G |
unknown |
Het |
| Snx6 |
A |
G |
12: 54,812,469 (GRCm39) |
|
probably benign |
Het |
| St6galnac2 |
A |
T |
11: 116,581,128 (GRCm39) |
|
probably benign |
Het |
| Stk26 |
A |
T |
X: 49,959,275 (GRCm39) |
D62V |
probably damaging |
Het |
| Tgds |
G |
A |
14: 118,364,919 (GRCm39) |
Q101* |
probably null |
Het |
| Tmem135 |
C |
A |
7: 88,791,161 (GRCm39) |
R421L |
probably damaging |
Het |
| Tspyl4 |
T |
A |
10: 34,174,135 (GRCm39) |
V209E |
probably damaging |
Het |
| Tulp2 |
C |
A |
7: 45,165,696 (GRCm39) |
P98Q |
probably damaging |
Het |
| Txk |
C |
T |
5: 72,893,745 (GRCm39) |
V12I |
probably benign |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,776 (GRCm39) |
T276A |
probably benign |
Het |
| Xdh |
G |
A |
17: 74,202,781 (GRCm39) |
A1123V |
possibly damaging |
Het |
| Zfp60 |
T |
A |
7: 27,447,759 (GRCm39) |
Y142* |
probably null |
Het |
|
| Other mutations in Usp30 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation