Incidental Mutation 'IGL02894:Usp29'
| ID |
363333 |
| 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 # |
IGL02894
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
6733577-6970218 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 6964633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 159
(M159L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143283
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054055]
[ENSMUST00000197117]
[ENSMUST00000198068]
[ENSMUST00000200535]
|
| AlphaFold |
Q9ES63 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054055
AA Change: M159L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000062349
Gene: ENSMUSG00000051527
AA Change: M159L
| 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
AA Change: M159L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000143283
Gene: ENSMUSG00000051527
AA Change: M159L
| 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: M159L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000143267
Gene: ENSMUSG00000051527
AA Change: M159L
| 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: M159L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000143769
Gene: ENSMUSG00000051527
AA Change: M159L
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630023A22Rik |
T |
A |
14: 33,776,817 (GRCm39) |
|
probably benign |
Het |
| Aurka |
T |
A |
2: 172,208,868 (GRCm39) |
|
probably null |
Het |
| Cacna2d3 |
C |
T |
14: 28,786,276 (GRCm39) |
|
probably null |
Het |
| Cdh12 |
A |
G |
15: 21,586,380 (GRCm39) |
Y733C |
probably damaging |
Het |
| Cdon |
A |
T |
9: 35,366,722 (GRCm39) |
E199D |
probably benign |
Het |
| Celsr2 |
A |
T |
3: 108,302,526 (GRCm39) |
L558Q |
probably damaging |
Het |
| Clcnkb |
C |
A |
4: 141,135,130 (GRCm39) |
R536L |
probably benign |
Het |
| Cyp3a11 |
G |
A |
5: 145,805,836 (GRCm39) |
Q151* |
probably null |
Het |
| Dnah7a |
A |
T |
1: 53,616,487 (GRCm39) |
V1158E |
probably benign |
Het |
| Dnah8 |
G |
T |
17: 30,940,084 (GRCm39) |
E1677* |
probably null |
Het |
| Dock3 |
T |
C |
9: 106,807,298 (GRCm39) |
N1343S |
probably benign |
Het |
| Dock6 |
T |
A |
9: 21,723,111 (GRCm39) |
E1603D |
probably damaging |
Het |
| Fam91a1 |
C |
T |
15: 58,315,080 (GRCm39) |
T589M |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,147,479 (GRCm39) |
N3921I |
probably damaging |
Het |
| Gm10188 |
A |
G |
1: 132,157,037 (GRCm39) |
|
probably benign |
Het |
| Grid2ip |
A |
G |
5: 143,376,863 (GRCm39) |
E976G |
probably benign |
Het |
| Hapln3 |
G |
T |
7: 78,771,521 (GRCm39) |
Q123K |
probably benign |
Het |
| Hnrnpul1 |
G |
A |
7: 25,450,329 (GRCm39) |
P128S |
possibly damaging |
Het |
| Hsd3b1 |
T |
A |
3: 98,760,245 (GRCm39) |
I249F |
possibly damaging |
Het |
| Kbtbd3 |
A |
T |
9: 4,331,444 (GRCm39) |
H606L |
probably benign |
Het |
| Krt82 |
T |
C |
15: 101,451,155 (GRCm39) |
Y418C |
probably damaging |
Het |
| Mcm3ap |
C |
A |
10: 76,313,601 (GRCm39) |
A565E |
probably benign |
Het |
| Minar1 |
T |
G |
9: 89,485,155 (GRCm39) |
I81L |
probably damaging |
Het |
| Naip2 |
A |
G |
13: 100,297,505 (GRCm39) |
S844P |
probably damaging |
Het |
| Naip2 |
C |
T |
13: 100,320,297 (GRCm39) |
V240I |
probably benign |
Het |
| Notch2 |
T |
A |
3: 98,009,748 (GRCm39) |
C558* |
probably null |
Het |
| Npdc1 |
T |
A |
2: 25,298,007 (GRCm39) |
H185Q |
probably benign |
Het |
| Or2a25 |
A |
T |
6: 42,888,451 (GRCm39) |
|
probably benign |
Het |
| Or4c31 |
T |
G |
2: 88,292,070 (GRCm39) |
Y148D |
probably damaging |
Het |
| Or5d37 |
T |
C |
2: 87,924,107 (GRCm39) |
I58V |
possibly damaging |
Het |
| Osbpl3 |
A |
T |
6: 50,323,312 (GRCm39) |
I257N |
possibly damaging |
Het |
| Pkd1l2 |
T |
A |
8: 117,740,630 (GRCm39) |
T2156S |
probably damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,797,888 (GRCm39) |
|
probably benign |
Het |
| Ppp3ca |
C |
A |
3: 136,503,573 (GRCm39) |
H49N |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,505,626 (GRCm39) |
L1100I |
probably damaging |
Het |
| Ptpn21 |
A |
C |
12: 98,655,891 (GRCm39) |
|
probably benign |
Het |
| Ptpn7 |
A |
T |
1: 135,070,906 (GRCm39) |
M332L |
probably damaging |
Het |
| Ptprq |
T |
A |
10: 107,503,285 (GRCm39) |
Q791L |
probably benign |
Het |
| Ptprz1 |
G |
A |
6: 23,035,148 (GRCm39) |
R1966H |
probably damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,763,854 (GRCm39) |
Q1404L |
possibly damaging |
Het |
| Reln |
C |
A |
5: 22,090,546 (GRCm39) |
M3437I |
possibly damaging |
Het |
| S100a7l2 |
A |
T |
3: 90,995,700 (GRCm39) |
F67L |
probably benign |
Het |
| Slc13a1 |
T |
C |
6: 24,137,041 (GRCm39) |
|
probably benign |
Het |
| Slc4a11 |
T |
C |
2: 130,529,075 (GRCm39) |
|
probably null |
Het |
| Slc9a2 |
A |
G |
1: 40,802,762 (GRCm39) |
E604G |
probably benign |
Het |
| Sod3 |
T |
G |
5: 52,525,348 (GRCm39) |
S16A |
possibly damaging |
Het |
| Taok3 |
A |
G |
5: 117,401,678 (GRCm39) |
I650V |
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,319,211 (GRCm39) |
I270M |
probably damaging |
Het |
| Ugt3a1 |
T |
A |
15: 9,367,487 (GRCm39) |
I410N |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,184,043 (GRCm39) |
S1449N |
probably damaging |
Het |
| Vmn1r122 |
A |
T |
7: 20,867,649 (GRCm39) |
F135L |
probably benign |
Het |
| Wdr11 |
T |
C |
7: 129,232,890 (GRCm39) |
|
probably benign |
Het |
| Zc3h14 |
T |
A |
12: 98,725,202 (GRCm39) |
|
probably null |
Het |
| Zfp955a |
A |
T |
17: 33,461,426 (GRCm39) |
C235* |
probably null |
Het |
|
| Other mutations in Usp29 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00659:Usp29
|
APN |
7 |
6,965,281 (GRCm39) |
missense |
probably benign |
0.06 |
|
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 |
|
|
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 |
2015-12-18 |
Incidental Mutation