Incidental Mutation 'R8844:Usp29'
| ID |
674603 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp29
|
| Ensembl Gene |
ENSMUSG00000051527 |
| Gene Name |
ubiquitin specific peptidase 29 |
| Synonyms |
Ocat |
| MMRRC Submission |
068733-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8844 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
6733577-6970218 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6964891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 245
(N245D)
|
| 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: N245D
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000062349
Gene: ENSMUSG00000051527
AA Change: N245D
| 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: N245D
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000143267
Gene: ENSMUSG00000051527
AA Change: N245D
| 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: N245D
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000143769
Gene: ENSMUSG00000051527
AA Change: N245D
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530002B09Rik |
A |
T |
4: 122,595,011 (GRCm39) |
H89L |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 8,984,254 (GRCm39) |
V1846A |
probably damaging |
Het |
| Arhgap9 |
A |
T |
10: 127,161,015 (GRCm39) |
T181S |
probably benign |
Het |
| Bmp10 |
A |
G |
6: 87,410,681 (GRCm39) |
Y158C |
probably damaging |
Het |
| Clec14a |
A |
G |
12: 58,315,599 (GRCm39) |
C8R |
possibly damaging |
Het |
| Cntln |
A |
G |
4: 84,892,234 (GRCm39) |
H373R |
probably damaging |
Het |
| Cpn2 |
A |
G |
16: 30,078,115 (GRCm39) |
S529P |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,604,590 (GRCm39) |
N1051S |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 48,536,815 (GRCm39) |
T129M |
probably damaging |
Het |
| F12 |
T |
C |
13: 55,568,198 (GRCm39) |
H432R |
probably damaging |
Het |
| Foxm1 |
T |
C |
6: 128,350,439 (GRCm39) |
F595S |
probably damaging |
Het |
| Foxred2 |
A |
T |
15: 77,832,677 (GRCm39) |
I410N |
probably benign |
Het |
| Fstl5 |
T |
A |
3: 76,337,154 (GRCm39) |
F238I |
possibly damaging |
Het |
| Galnt3 |
A |
G |
2: 65,915,636 (GRCm39) |
V575A |
probably benign |
Het |
| Gpr149 |
T |
A |
3: 62,502,572 (GRCm39) |
Y428F |
probably benign |
Het |
| Gtf2ird1 |
A |
T |
5: 134,389,879 (GRCm39) |
Y970* |
probably null |
Het |
| Hint2 |
G |
C |
4: 43,654,343 (GRCm39) |
Q157E |
probably damaging |
Het |
| Ighe |
T |
C |
12: 113,235,006 (GRCm39) |
T385A |
|
Het |
| Kcnc4 |
G |
A |
3: 107,355,396 (GRCm39) |
R351C |
probably damaging |
Het |
| Kif7 |
A |
G |
7: 79,357,280 (GRCm39) |
L642S |
possibly damaging |
Het |
| Lilra5 |
T |
A |
7: 4,241,663 (GRCm39) |
V154D |
probably damaging |
Het |
| Morc2b |
A |
G |
17: 33,354,742 (GRCm39) |
L1010P |
probably damaging |
Het |
| Mphosph10 |
C |
A |
7: 64,027,087 (GRCm39) |
K575N |
probably damaging |
Het |
| Mup7 |
C |
A |
4: 60,067,537 (GRCm39) |
E193* |
probably null |
Het |
| Nbea |
T |
C |
3: 55,998,415 (GRCm39) |
T131A |
probably damaging |
Het |
| Nostrin |
T |
C |
2: 69,006,060 (GRCm39) |
I248T |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 89,153,920 (GRCm39) |
I296F |
possibly damaging |
Het |
| Odam |
A |
G |
5: 88,037,322 (GRCm39) |
E172G |
probably damaging |
Het |
| Optn |
A |
G |
2: 5,031,923 (GRCm39) |
|
probably null |
Het |
| Or5ac16 |
G |
C |
16: 59,021,929 (GRCm39) |
P287A |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,112,336 (GRCm39) |
Y484N |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,480,206 (GRCm39) |
N1308D |
probably damaging |
Het |
| Pcdhb17 |
A |
T |
18: 37,618,801 (GRCm39) |
E197V |
probably benign |
Het |
| Pcolce2 |
G |
A |
9: 95,563,625 (GRCm39) |
D204N |
possibly damaging |
Het |
| Plxna4 |
T |
G |
6: 32,174,026 (GRCm39) |
T1190P |
probably benign |
Het |
| Pramel22 |
A |
T |
4: 143,380,976 (GRCm39) |
F349Y |
probably damaging |
Het |
| Pzp |
T |
C |
6: 128,500,950 (GRCm39) |
Y136C |
probably damaging |
Het |
| Scn10a |
A |
T |
9: 119,446,791 (GRCm39) |
N1411K |
probably damaging |
Het |
| Scube1 |
A |
G |
15: 83,561,164 (GRCm39) |
C143R |
probably damaging |
Het |
| Stau1 |
T |
C |
2: 166,793,266 (GRCm39) |
T290A |
probably benign |
Het |
| Sycp1 |
T |
A |
3: 102,772,421 (GRCm39) |
K629I |
probably damaging |
Het |
| Taf1d |
A |
G |
9: 15,221,324 (GRCm39) |
E210G |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,153,117 (GRCm39) |
E204G |
possibly damaging |
Het |
| Tmem229a |
T |
C |
6: 24,955,187 (GRCm39) |
D189G |
probably benign |
Het |
| Tmem269 |
G |
A |
4: 119,062,876 (GRCm39) |
P254S |
probably damaging |
Het |
| Top1 |
T |
A |
2: 160,563,469 (GRCm39) |
F767I |
probably damaging |
Het |
| Ube2q2 |
C |
A |
9: 55,102,757 (GRCm39) |
A331D |
|
Het |
| Usp1 |
A |
G |
4: 98,823,017 (GRCm39) |
Y777C |
probably damaging |
Het |
| Vmn1r212 |
T |
A |
13: 23,067,526 (GRCm39) |
Q269L |
probably benign |
Het |
| Wfdc11 |
T |
A |
2: 164,507,373 (GRCm39) |
Y28F |
probably benign |
Het |
| Wwp2 |
A |
T |
8: 108,210,048 (GRCm39) |
D142V |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGTGAACAAGGACATTCCC -3'
(R):5'- TTCTCCCATGGGATGCCTTG -3'
Sequencing Primer
(F):5'- GGACATTCCCAAAGAAAATACTCCTG -3'
(R):5'- CTTTGCAAAGGTTGGAATCCC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation