Incidental Mutation 'IGL02551:Usp29'
| ID |
298098 |
| 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 # |
IGL02551
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
6730578-6967219 bp(+) (GRCm38) |
| Type of Mutation |
splice site (1599 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 6963353 bp (GRCm38)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000054055
AA Change: S732G
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000062349
Gene: ENSMUSG00000051527
AA Change: S732G
| 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 |
possibly damaging
Transcript: ENSMUST00000198068
AA Change: S732G
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143267
Gene: ENSMUSG00000051527
AA Change: S732G
| 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 |
possibly damaging
Transcript: ENSMUST00000200535
AA Change: S732G
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143769
Gene: ENSMUSG00000051527
AA Change: S732G
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012P17Rik |
G |
A |
1: 158,969,048 (GRCm38) |
|
noncoding transcript |
Het |
| Abca8a |
T |
C |
11: 110,084,242 (GRCm38) |
I109V |
probably benign |
Het |
| Acsm2 |
C |
T |
7: 119,573,284 (GRCm38) |
P117S |
probably damaging |
Het |
| Adamts18 |
C |
A |
8: 113,699,072 (GRCm38) |
C1186F |
probably damaging |
Het |
| Adamts5 |
A |
T |
16: 85,870,038 (GRCm38) |
V522E |
possibly damaging |
Het |
| Adcy10 |
A |
G |
1: 165,543,233 (GRCm38) |
T694A |
probably damaging |
Het |
| Adgra2 |
G |
A |
8: 27,119,222 (GRCm38) |
V609I |
probably benign |
Het |
| Agbl3 |
A |
G |
6: 34,823,071 (GRCm38) |
K638R |
possibly damaging |
Het |
| Alpk2 |
T |
A |
18: 65,372,751 (GRCm38) |
N66I |
probably damaging |
Het |
| Ap3b1 |
T |
A |
13: 94,418,091 (GRCm38) |
I245N |
probably damaging |
Het |
| Aqp9 |
A |
G |
9: 71,132,640 (GRCm38) |
V120A |
probably damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,930,346 (GRCm38) |
E465G |
probably damaging |
Het |
| Btrc |
G |
T |
19: 45,423,134 (GRCm38) |
C31F |
possibly damaging |
Het |
| Calhm2 |
G |
A |
19: 47,133,100 (GRCm38) |
S210L |
probably damaging |
Het |
| Cnksr3 |
C |
A |
10: 7,152,912 (GRCm38) |
K153N |
probably damaging |
Het |
| Cnr1 |
T |
C |
4: 33,943,686 (GRCm38) |
S25P |
probably benign |
Het |
| Dnajc6 |
T |
A |
4: 101,639,353 (GRCm38) |
W838R |
probably damaging |
Het |
| Fam78a |
T |
A |
2: 32,069,556 (GRCm38) |
T181S |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,051,398 (GRCm38) |
T4600A |
probably damaging |
Het |
| Fbxo31 |
A |
T |
8: 121,566,344 (GRCm38) |
Y101N |
probably damaging |
Het |
| Glmp |
A |
G |
3: 88,325,082 (GRCm38) |
M1V |
probably null |
Het |
| Gsdmc |
T |
A |
15: 63,801,933 (GRCm38) |
T168S |
probably benign |
Het |
| Has1 |
C |
T |
17: 17,848,298 (GRCm38) |
V265I |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,454,811 (GRCm38) |
D4670G |
possibly damaging |
Het |
| Kcnj4 |
C |
T |
15: 79,484,902 (GRCm38) |
M292I |
probably benign |
Het |
| Kmo |
A |
T |
1: 175,637,919 (GRCm38) |
S80C |
probably damaging |
Het |
| Lrrc8d |
C |
T |
5: 105,813,548 (GRCm38) |
T608I |
possibly damaging |
Het |
| Mical2 |
A |
T |
7: 112,323,990 (GRCm38) |
N635I |
probably benign |
Het |
| Nags |
T |
C |
11: 102,147,941 (GRCm38) |
S403P |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,323,338 (GRCm38) |
I776F |
probably benign |
Het |
| Ncan |
A |
T |
8: 70,102,462 (GRCm38) |
N1018K |
probably damaging |
Het |
| Notch3 |
T |
A |
17: 32,154,731 (GRCm38) |
|
probably benign |
Het |
| Nup93 |
C |
T |
8: 94,227,833 (GRCm38) |
Q53* |
probably null |
Het |
| Pdk2 |
T |
A |
11: 95,028,586 (GRCm38) |
M288L |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,573,815 (GRCm38) |
Y1492C |
probably damaging |
Het |
| Pla2g12b |
T |
A |
10: 59,403,870 (GRCm38) |
W34R |
probably damaging |
Het |
| Pla2g6 |
T |
A |
15: 79,299,094 (GRCm38) |
D511V |
possibly damaging |
Het |
| Plin2 |
C |
A |
4: 86,658,692 (GRCm38) |
M265I |
probably benign |
Het |
| Ppp6c |
A |
T |
2: 39,206,657 (GRCm38) |
F78I |
probably damaging |
Het |
| Prop1 |
A |
T |
11: 50,950,946 (GRCm38) |
M211K |
possibly damaging |
Het |
| Prr14l |
T |
A |
5: 32,831,484 (GRCm38) |
E222D |
probably damaging |
Het |
| Rtkn |
A |
T |
6: 83,151,924 (GRCm38) |
I454F |
probably damaging |
Het |
| Serinc2 |
T |
C |
4: 130,260,774 (GRCm38) |
I226V |
probably benign |
Het |
| Sh3bp1 |
T |
A |
15: 78,904,338 (GRCm38) |
H229Q |
probably benign |
Het |
| Slc13a3 |
G |
T |
2: 165,424,573 (GRCm38) |
F348L |
probably damaging |
Het |
| Slc6a15 |
T |
A |
10: 103,404,275 (GRCm38) |
|
probably benign |
Het |
| Spg7 |
G |
A |
8: 123,076,978 (GRCm38) |
G249E |
probably damaging |
Het |
| Tbc1d2 |
T |
C |
4: 46,649,916 (GRCm38) |
D40G |
probably benign |
Het |
| Tmcc2 |
A |
G |
1: 132,357,579 (GRCm38) |
L683P |
probably damaging |
Het |
| Triobp |
T |
C |
15: 78,973,489 (GRCm38) |
S1097P |
probably benign |
Het |
| Tspan9 |
T |
C |
6: 127,965,763 (GRCm38) |
D167G |
probably null |
Het |
| Ttll6 |
T |
C |
11: 96,154,700 (GRCm38) |
I581T |
probably benign |
Het |
| Vgll4 |
A |
G |
6: 114,862,293 (GRCm38) |
W246R |
probably damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,026,141 (GRCm38) |
V170A |
probably benign |
Het |
| Vmn2r62 |
T |
C |
7: 42,788,506 (GRCm38) |
T185A |
probably benign |
Het |
| Vwce |
A |
G |
19: 10,645,036 (GRCm38) |
H234R |
possibly damaging |
Het |
| Zfp292 |
T |
C |
4: 34,806,462 (GRCm38) |
E2194G |
possibly damaging |
Het |
|
| Other mutations in Usp29 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00659:Usp29
|
APN |
7 |
6,962,282 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL01588:Usp29
|
APN |
7 |
6,962,611 (GRCm38) |
missense |
probably benign |
0.33 |
|
IGL02032:Usp29
|
APN |
7 |
6,962,018 (GRCm38) |
missense |
probably benign |
0.41 |
|
IGL02052:Usp29
|
APN |
7 |
6,962,526 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02331:Usp29
|
APN |
7 |
6,962,156 (GRCm38) |
missense |
probably benign |
0.16 |
|
IGL02573:Usp29
|
APN |
7 |
6,962,618 (GRCm38) |
splice site |
probably null |
|
|
IGL02894:Usp29
|
APN |
7 |
6,961,634 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0029:Usp29
|
UTSW |
7 |
6,961,581 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0142:Usp29
|
UTSW |
7 |
6,962,335 (GRCm38) |
missense |
probably benign |
0.12 |
|
R0452:Usp29
|
UTSW |
7 |
6,963,182 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R0680:Usp29
|
UTSW |
7 |
6,962,885 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1161:Usp29
|
UTSW |
7 |
6,961,530 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2391:Usp29
|
UTSW |
7 |
6,963,771 (GRCm38) |
splice site |
probably null |
|
|
R3104:Usp29
|
UTSW |
7 |
6,962,053 (GRCm38) |
nonsense |
probably null |
|
|
R4119:Usp29
|
UTSW |
7 |
6,962,806 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4490:Usp29
|
UTSW |
7 |
6,961,950 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R4598:Usp29
|
UTSW |
7 |
6,962,480 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4606:Usp29
|
UTSW |
7 |
6,963,357 (GRCm38) |
splice site |
probably null |
|
|
R4670:Usp29
|
UTSW |
7 |
6,962,915 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4777:Usp29
|
UTSW |
7 |
6,962,748 (GRCm38) |
missense |
probably benign |
0.07 |
|
R4783:Usp29
|
UTSW |
7 |
6,961,391 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4785:Usp29
|
UTSW |
7 |
6,961,391 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4896:Usp29
|
UTSW |
7 |
6,962,159 (GRCm38) |
missense |
probably benign |
0.29 |
|
R4915:Usp29
|
UTSW |
7 |
6,961,505 (GRCm38) |
missense |
probably benign |
|
|
R4944:Usp29
|
UTSW |
7 |
6,961,928 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5004:Usp29
|
UTSW |
7 |
6,962,159 (GRCm38) |
missense |
probably benign |
0.29 |
|
R5171:Usp29
|
UTSW |
7 |
6,962,075 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5268:Usp29
|
UTSW |
7 |
6,961,584 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5572:Usp29
|
UTSW |
7 |
6,962,192 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5933:Usp29
|
UTSW |
7 |
6,961,745 (GRCm38) |
missense |
probably benign |
|
|
R6694:Usp29
|
UTSW |
7 |
6,962,277 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7389:Usp29
|
UTSW |
7 |
6,963,458 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R7446:Usp29
|
UTSW |
7 |
6,961,220 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7447:Usp29
|
UTSW |
7 |
6,961,220 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7535:Usp29
|
UTSW |
7 |
6,961,220 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7537:Usp29
|
UTSW |
7 |
6,961,220 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8081:Usp29
|
UTSW |
7 |
6,963,630 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8233:Usp29
|
UTSW |
7 |
6,962,407 (GRCm38) |
missense |
probably benign |
0.12 |
|
R8703:Usp29
|
UTSW |
7 |
6,961,322 (GRCm38) |
missense |
probably benign |
0.32 |
|
R8725:Usp29
|
UTSW |
7 |
6,962,918 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8727:Usp29
|
UTSW |
7 |
6,962,918 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8844:Usp29
|
UTSW |
7 |
6,961,892 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9173:Usp29
|
UTSW |
7 |
6,961,637 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9616:Usp29
|
UTSW |
7 |
6,963,180 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R9623:Usp29
|
UTSW |
7 |
6,961,397 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
| Posted On |
2015-04-16 |
Incidental Mutation