Incidental Mutation 'IGL02573:Usp29'
| ID |
299087 |
| 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 # |
IGL02573
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
6733577-6970218 bp(+) (GRCm39) |
| Type of Mutation |
splice site (864 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 6965617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143283
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054055]
[ENSMUST00000197117]
[ENSMUST00000198068]
[ENSMUST00000200535]
|
| AlphaFold |
Q9ES63 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054055
AA Change: N487Y
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000062349
Gene: ENSMUSG00000051527
AA Change: N487Y
| 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 null
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 damaging
Transcript: ENSMUST00000198068
AA Change: N487Y
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143267
Gene: ENSMUSG00000051527
AA Change: N487Y
| 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 damaging
Transcript: ENSMUST00000200535
AA Change: N487Y
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143769
Gene: ENSMUSG00000051527
AA Change: N487Y
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl3 |
T |
A |
4: 98,926,171 (GRCm39) |
W434R |
probably damaging |
Het |
| Atp7b |
T |
C |
8: 22,512,486 (GRCm39) |
Q344R |
probably benign |
Het |
| B4galt5 |
C |
T |
2: 167,146,982 (GRCm39) |
R284Q |
probably benign |
Het |
| Ccdc80 |
T |
G |
16: 44,915,952 (GRCm39) |
V236G |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,457,191 (GRCm39) |
I926V |
possibly damaging |
Het |
| Dgkz |
A |
C |
2: 91,764,542 (GRCm39) |
S1030R |
probably damaging |
Het |
| Disp3 |
T |
A |
4: 148,355,906 (GRCm39) |
D318V |
probably damaging |
Het |
| Dnaaf10 |
T |
C |
11: 17,162,136 (GRCm39) |
L58P |
possibly damaging |
Het |
| Ehd1 |
T |
C |
19: 6,344,330 (GRCm39) |
S197P |
probably damaging |
Het |
| Emp1 |
A |
G |
6: 135,356,945 (GRCm39) |
K42R |
probably benign |
Het |
| Garin4 |
G |
A |
1: 190,896,067 (GRCm39) |
T192I |
probably damaging |
Het |
| Gm4922 |
T |
A |
10: 18,659,423 (GRCm39) |
D433V |
probably benign |
Het |
| Gsdma |
T |
C |
11: 98,561,577 (GRCm39) |
|
probably benign |
Het |
| Hspbp1 |
G |
T |
7: 4,680,852 (GRCm39) |
A208E |
probably damaging |
Het |
| Il5ra |
A |
T |
6: 106,693,712 (GRCm39) |
V342E |
possibly damaging |
Het |
| Kif13b |
T |
C |
14: 65,040,880 (GRCm39) |
F1660S |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 47,010,016 (GRCm39) |
E388G |
probably damaging |
Het |
| Mettl17 |
G |
A |
14: 52,125,504 (GRCm39) |
|
probably null |
Het |
| Mgat5b |
T |
C |
11: 116,868,540 (GRCm39) |
Y488H |
probably benign |
Het |
| Mtr |
A |
T |
13: 12,214,013 (GRCm39) |
D886E |
possibly damaging |
Het |
| Naip6 |
A |
T |
13: 100,435,979 (GRCm39) |
L848* |
probably null |
Het |
| Nav3 |
A |
G |
10: 109,702,835 (GRCm39) |
S233P |
probably benign |
Het |
| Nme9 |
A |
T |
9: 99,352,908 (GRCm39) |
D286V |
probably benign |
Het |
| Nod1 |
C |
A |
6: 54,920,930 (GRCm39) |
A463S |
probably benign |
Het |
| Nthl1 |
A |
G |
17: 24,852,949 (GRCm39) |
K51R |
probably benign |
Het |
| Or1n2 |
A |
G |
2: 36,797,566 (GRCm39) |
I203V |
probably damaging |
Het |
| Or6k14 |
T |
A |
1: 173,927,696 (GRCm39) |
V224D |
possibly damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,582,012 (GRCm39) |
A908V |
probably benign |
Het |
| Pdcd6 |
A |
G |
13: 74,452,098 (GRCm39) |
Y181H |
probably damaging |
Het |
| Pde10a |
A |
C |
17: 9,180,722 (GRCm39) |
I719L |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,270,014 (GRCm39) |
|
probably null |
Het |
| Plekha5 |
G |
T |
6: 140,527,742 (GRCm39) |
A396S |
probably damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,664,789 (GRCm39) |
T342A |
probably damaging |
Het |
| Rbck1 |
A |
G |
2: 152,164,087 (GRCm39) |
I339T |
possibly damaging |
Het |
| Rbms2 |
A |
T |
10: 127,979,309 (GRCm39) |
I140N |
probably damaging |
Het |
| Scn1b |
A |
T |
7: 30,822,546 (GRCm39) |
L78Q |
possibly damaging |
Het |
| Slc12a6 |
T |
C |
2: 112,188,986 (GRCm39) |
|
probably null |
Het |
| Slc25a30 |
A |
T |
14: 76,007,108 (GRCm39) |
|
probably benign |
Het |
| Slc30a7 |
C |
T |
3: 115,783,796 (GRCm39) |
|
probably benign |
Het |
| Slc5a10 |
C |
A |
11: 61,563,898 (GRCm39) |
R546L |
possibly damaging |
Het |
| Stxbp4 |
T |
C |
11: 90,431,095 (GRCm39) |
D405G |
probably damaging |
Het |
| Tm4sf19 |
A |
C |
16: 32,226,678 (GRCm39) |
T156P |
possibly damaging |
Het |
| Tmem37 |
A |
T |
1: 119,995,719 (GRCm39) |
D119E |
probably damaging |
Het |
| Tor1aip1 |
T |
A |
1: 155,889,117 (GRCm39) |
N113I |
probably damaging |
Het |
| Ubac2 |
T |
A |
14: 122,144,802 (GRCm39) |
Y87N |
possibly damaging |
Het |
| Zfp276 |
A |
G |
8: 123,991,736 (GRCm39) |
E428G |
probably damaging |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation