Incidental Mutation 'IGL00659:Usp29'
ID |
14740 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Usp29
|
Ensembl Gene |
ENSMUSG00000051527 |
Gene Name |
ubiquitin specific peptidase 29 |
Synonyms |
Ocat |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00659
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
6733577-6970218 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 6965281 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 375
(N375D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143769
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054055]
[ENSMUST00000197117]
[ENSMUST00000198068]
[ENSMUST00000200535]
|
AlphaFold |
Q9ES63 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000054055
AA Change: N375D
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000062349 Gene: ENSMUSG00000051527 AA Change: N375D
Domain | Start | End | E-Value | Type |
Pfam:UCH_N
|
1 |
107 |
6.1e-37 |
PFAM |
low complexity region
|
162 |
179 |
N/A |
INTRINSIC |
low complexity region
|
200 |
214 |
N/A |
INTRINSIC |
Pfam:UCH
|
288 |
823 |
6.1e-53 |
PFAM |
Pfam:UCH_1
|
289 |
615 |
2.3e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197117
|
SMART Domains |
Protein: ENSMUSP00000143283 Gene: ENSMUSG00000051527
Domain | Start | End | E-Value | Type |
PDB:3U12|B
|
11 |
73 |
3e-7 |
PDB |
low complexity region
|
82 |
95 |
N/A |
INTRINSIC |
low complexity region
|
169 |
186 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198068
AA Change: N375D
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000143267 Gene: ENSMUSG00000051527 AA Change: N375D
Domain | Start | End | E-Value | Type |
PDB:3U12|B
|
11 |
123 |
3e-6 |
PDB |
low complexity region
|
169 |
186 |
N/A |
INTRINSIC |
low complexity region
|
207 |
221 |
N/A |
INTRINSIC |
Pfam:UCH
|
295 |
830 |
7.9e-52 |
PFAM |
Pfam:UCH_1
|
296 |
626 |
9.6e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200535
AA Change: N375D
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000143769 Gene: ENSMUSG00000051527 AA Change: N375D
Domain | Start | End | E-Value | Type |
Pfam:UCH_N
|
8 |
114 |
8.3e-34 |
PFAM |
low complexity region
|
169 |
186 |
N/A |
INTRINSIC |
low complexity region
|
207 |
221 |
N/A |
INTRINSIC |
Pfam:UCH
|
295 |
830 |
2.8e-51 |
PFAM |
Pfam:UCH_1
|
296 |
622 |
1.1e-14 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203365
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204486
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap4e1 |
T |
C |
2: 126,905,221 (GRCm39) |
V964A |
probably benign |
Het |
Birc6 |
T |
A |
17: 74,967,648 (GRCm39) |
V4197E |
probably damaging |
Het |
C8b |
T |
A |
4: 104,658,531 (GRCm39) |
|
probably benign |
Het |
Cdh13 |
A |
G |
8: 120,039,406 (GRCm39) |
D616G |
probably damaging |
Het |
Cfi |
A |
G |
3: 129,630,462 (GRCm39) |
K2E |
unknown |
Het |
Chek1 |
C |
A |
9: 36,633,895 (GRCm39) |
|
probably null |
Het |
Chst11 |
T |
G |
10: 83,027,639 (GRCm39) |
|
probably benign |
Het |
Dhx29 |
A |
G |
13: 113,103,169 (GRCm39) |
|
probably benign |
Het |
Erbb3 |
A |
G |
10: 128,406,852 (GRCm39) |
S1049P |
probably damaging |
Het |
Fkbp15 |
T |
C |
4: 62,251,917 (GRCm39) |
|
probably benign |
Het |
Fxr2 |
C |
A |
11: 69,531,076 (GRCm39) |
Q51K |
probably benign |
Het |
Kpna7 |
T |
A |
5: 144,944,056 (GRCm39) |
I50F |
probably damaging |
Het |
Mdm2 |
T |
C |
10: 117,538,204 (GRCm39) |
R65G |
possibly damaging |
Het |
N4bp1 |
G |
T |
8: 87,588,430 (GRCm39) |
D169E |
probably damaging |
Het |
Nlrp9a |
A |
G |
7: 26,257,050 (GRCm39) |
I134V |
probably benign |
Het |
Plrg1 |
T |
A |
3: 82,977,980 (GRCm39) |
S400T |
probably damaging |
Het |
Polr1b |
T |
C |
2: 128,960,020 (GRCm39) |
|
probably null |
Het |
Sec23b |
T |
C |
2: 144,425,690 (GRCm39) |
|
probably null |
Het |
Ubr4 |
C |
T |
4: 139,148,556 (GRCm39) |
T1680I |
probably damaging |
Het |
Wrn |
A |
G |
8: 33,812,405 (GRCm39) |
|
probably benign |
Het |
Zfp422 |
G |
A |
6: 116,603,466 (GRCm39) |
Q178* |
probably null |
Het |
Zfp938 |
T |
A |
10: 82,063,355 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Usp29 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01588:Usp29
|
APN |
7 |
6,965,610 (GRCm39) |
missense |
probably benign |
0.33 |
IGL02032:Usp29
|
APN |
7 |
6,965,017 (GRCm39) |
missense |
probably benign |
0.41 |
IGL02052:Usp29
|
APN |
7 |
6,965,525 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02331:Usp29
|
APN |
7 |
6,965,155 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02551:Usp29
|
APN |
7 |
6,966,352 (GRCm39) |
splice site |
probably null |
|
IGL02573:Usp29
|
APN |
7 |
6,965,617 (GRCm39) |
splice site |
probably null |
|
IGL02894:Usp29
|
APN |
7 |
6,964,633 (GRCm39) |
missense |
probably benign |
0.00 |
R0029:Usp29
|
UTSW |
7 |
6,964,580 (GRCm39) |
missense |
probably damaging |
0.99 |
R0142:Usp29
|
UTSW |
7 |
6,965,334 (GRCm39) |
missense |
probably benign |
0.12 |
R0452:Usp29
|
UTSW |
7 |
6,966,181 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0680:Usp29
|
UTSW |
7 |
6,965,884 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1161:Usp29
|
UTSW |
7 |
6,964,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R2391:Usp29
|
UTSW |
7 |
6,966,770 (GRCm39) |
splice site |
probably null |
|
R3104:Usp29
|
UTSW |
7 |
6,965,052 (GRCm39) |
nonsense |
probably null |
|
R4119:Usp29
|
UTSW |
7 |
6,965,805 (GRCm39) |
missense |
probably benign |
0.03 |
R4490:Usp29
|
UTSW |
7 |
6,964,949 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4598:Usp29
|
UTSW |
7 |
6,965,479 (GRCm39) |
missense |
probably benign |
0.06 |
R4606:Usp29
|
UTSW |
7 |
6,966,356 (GRCm39) |
splice site |
probably null |
|
R4670:Usp29
|
UTSW |
7 |
6,965,914 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4777:Usp29
|
UTSW |
7 |
6,965,747 (GRCm39) |
missense |
probably benign |
0.07 |
R4783:Usp29
|
UTSW |
7 |
6,964,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R4785:Usp29
|
UTSW |
7 |
6,964,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R4896:Usp29
|
UTSW |
7 |
6,965,158 (GRCm39) |
missense |
probably benign |
0.29 |
R4915:Usp29
|
UTSW |
7 |
6,964,504 (GRCm39) |
missense |
probably benign |
|
R4944:Usp29
|
UTSW |
7 |
6,964,927 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5004:Usp29
|
UTSW |
7 |
6,965,158 (GRCm39) |
missense |
probably benign |
0.29 |
R5171:Usp29
|
UTSW |
7 |
6,965,074 (GRCm39) |
missense |
probably damaging |
0.99 |
R5268:Usp29
|
UTSW |
7 |
6,964,583 (GRCm39) |
missense |
probably damaging |
0.98 |
R5572:Usp29
|
UTSW |
7 |
6,965,191 (GRCm39) |
missense |
probably benign |
0.12 |
R5933:Usp29
|
UTSW |
7 |
6,964,744 (GRCm39) |
missense |
probably benign |
|
R6694:Usp29
|
UTSW |
7 |
6,965,276 (GRCm39) |
missense |
probably benign |
0.03 |
R7389:Usp29
|
UTSW |
7 |
6,966,457 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7446:Usp29
|
UTSW |
7 |
6,964,219 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7447:Usp29
|
UTSW |
7 |
6,964,219 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7535:Usp29
|
UTSW |
7 |
6,964,219 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7537:Usp29
|
UTSW |
7 |
6,964,219 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8081:Usp29
|
UTSW |
7 |
6,966,629 (GRCm39) |
missense |
probably benign |
0.02 |
R8233:Usp29
|
UTSW |
7 |
6,965,406 (GRCm39) |
missense |
probably benign |
0.12 |
R8703:Usp29
|
UTSW |
7 |
6,964,321 (GRCm39) |
missense |
probably benign |
0.32 |
R8725:Usp29
|
UTSW |
7 |
6,965,917 (GRCm39) |
missense |
probably damaging |
0.98 |
R8727:Usp29
|
UTSW |
7 |
6,965,917 (GRCm39) |
missense |
probably damaging |
0.98 |
R8844:Usp29
|
UTSW |
7 |
6,964,891 (GRCm39) |
missense |
probably benign |
0.02 |
R9173:Usp29
|
UTSW |
7 |
6,964,636 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9616:Usp29
|
UTSW |
7 |
6,966,179 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9623:Usp29
|
UTSW |
7 |
6,964,396 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
Posted On |
2012-12-06 |