Incidental Mutation 'R8233:Usp29'
| ID |
637223 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp29
|
| Ensembl Gene |
ENSMUSG00000051527 |
| Gene Name |
ubiquitin specific peptidase 29 |
| Synonyms |
Ocat |
| MMRRC Submission |
067665-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8233 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
6733577-6970218 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 6965406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 416
(F416L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054055]
[ENSMUST00000197117]
[ENSMUST00000198068]
[ENSMUST00000200535]
|
| AlphaFold |
Q9ES63 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054055
AA Change: F416L
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000062349
Gene: ENSMUSG00000051527
AA Change: F416L
| 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: F416L
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000143267
Gene: ENSMUSG00000051527
AA Change: F416L
| 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: F416L
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000143769
Gene: ENSMUSG00000051527
AA Change: F416L
| 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: 99.9%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
A |
T |
18: 70,602,687 (GRCm39) |
V42E |
probably benign |
Het |
| Abca12 |
T |
C |
1: 71,390,916 (GRCm39) |
E153G |
probably benign |
Het |
| Adamts20 |
A |
C |
15: 94,189,533 (GRCm39) |
I1440S |
probably benign |
Het |
| Aspm |
T |
A |
1: 139,385,042 (GRCm39) |
S229T |
probably benign |
Het |
| Atp2b2 |
A |
T |
6: 113,742,680 (GRCm39) |
|
probably null |
Het |
| Cd101 |
G |
T |
3: 100,900,989 (GRCm39) |
H1032N |
unknown |
Het |
| Col6a2 |
A |
G |
10: 76,444,540 (GRCm39) |
|
probably null |
Het |
| Crot |
A |
T |
5: 9,026,027 (GRCm39) |
I320K |
possibly damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,772,588 (GRCm39) |
D602E |
probably damaging |
Het |
| Degs1 |
A |
G |
1: 182,107,160 (GRCm39) |
V69A |
probably benign |
Het |
| Dgkz |
A |
G |
2: 91,769,994 (GRCm39) |
S557P |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,405,055 (GRCm39) |
L602Q |
|
Het |
| Gli2 |
A |
T |
1: 118,772,167 (GRCm39) |
Y513N |
probably damaging |
Het |
| H2-Q10 |
A |
G |
17: 35,781,983 (GRCm39) |
T202A |
probably benign |
Het |
| Hnrnpa3 |
A |
G |
2: 75,492,860 (GRCm39) |
N195D |
probably benign |
Het |
| Ifna1 |
C |
T |
4: 88,768,628 (GRCm39) |
T102I |
possibly damaging |
Het |
| Igfbp3 |
T |
A |
11: 7,160,152 (GRCm39) |
H167L |
probably benign |
Het |
| Igfn1 |
T |
C |
1: 135,895,782 (GRCm39) |
T1595A |
probably benign |
Het |
| Krt14 |
A |
G |
11: 100,094,178 (GRCm39) |
V472A |
probably damaging |
Het |
| Lrrc74b |
T |
A |
16: 17,376,089 (GRCm39) |
H187L |
probably benign |
Het |
| Magoh |
T |
G |
4: 107,738,132 (GRCm39) |
V44G |
possibly damaging |
Het |
| Mbnl1 |
A |
T |
3: 60,532,551 (GRCm39) |
I274L |
probably benign |
Het |
| Or13a27 |
T |
G |
7: 139,925,411 (GRCm39) |
M164L |
probably benign |
Het |
| Or4c108 |
C |
T |
2: 88,804,082 (GRCm39) |
R51H |
probably benign |
Het |
| Pdcd1 |
A |
G |
1: 93,967,142 (GRCm39) |
V252A |
probably damaging |
Het |
| Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Plcxd3 |
A |
G |
15: 4,546,317 (GRCm39) |
D107G |
possibly damaging |
Het |
| Polr2m |
T |
A |
9: 71,390,866 (GRCm39) |
D112V |
probably benign |
Het |
| Ptprn |
A |
T |
1: 75,229,796 (GRCm39) |
M701K |
probably damaging |
Het |
| Rxrb |
A |
G |
17: 34,255,879 (GRCm39) |
D421G |
possibly damaging |
Het |
| Slfn4 |
A |
G |
11: 83,078,355 (GRCm39) |
E381G |
probably damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Srgap1 |
A |
G |
10: 121,661,341 (GRCm39) |
I530T |
probably damaging |
Het |
| Stmn4 |
A |
G |
14: 66,595,341 (GRCm39) |
H122R |
probably damaging |
Het |
| Sycp2 |
T |
C |
2: 177,998,427 (GRCm39) |
E1031G |
probably damaging |
Het |
| Tle1 |
T |
C |
4: 72,043,181 (GRCm39) |
T553A |
probably benign |
Het |
| Tnik |
T |
A |
3: 28,609,086 (GRCm39) |
W217R |
unknown |
Het |
| Tyrp1 |
T |
C |
4: 80,769,190 (GRCm39) |
V161A |
unknown |
Het |
| Usp45 |
T |
C |
4: 21,781,736 (GRCm39) |
V34A |
probably benign |
Het |
| Vmn1r119 |
A |
G |
7: 20,745,932 (GRCm39) |
V150A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCATTTCCACAGTTGCAGAC -3'
(R):5'- CTCCTCAATGTGTACTTGAGAACAG -3'
Sequencing Primer
(F):5'- AGTTGCAGACACATTCTCGG -3'
(R):5'- TCAATGTGTACTTGAGAACAGAATTC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation