Incidental Mutation 'R1534:Usp28'
| ID |
254697 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp28
|
| Ensembl Gene |
ENSMUSG00000032267 |
| Gene Name |
ubiquitin specific peptidase 28 |
| Synonyms |
9830148O20Rik |
| MMRRC Submission |
039573-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1534 (G1)
|
| Quality Score |
52 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
48896675-48953817 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48896806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 9
(D9G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047349]
[ENSMUST00000213874]
[ENSMUST00000215788]
|
| AlphaFold |
Q5I043 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047349
AA Change: D9G
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000047467
Gene: ENSMUSG00000032267
AA Change: D9G
| Domain | Start | End | E-Value | Type |
|---|
|
UIM
|
97 |
116 |
3.1e-3 |
SMART |
|
Pfam:UCH
|
161 |
652 |
5.4e-52 |
PFAM |
|
Pfam:UCH_1
|
162 |
626 |
2e-11 |
PFAM |
|
low complexity region
|
695 |
705 |
N/A |
INTRINSIC |
|
low complexity region
|
713 |
730 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213874
AA Change: D9G
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000215788
AA Change: D9G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216607
|
| Meta Mutation Damage Score |
0.0648 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a deubiquitinase involved in the DNA damage pathway and DNA damage-induced apoptosis. Overexpression of this gene is seen in several cancers. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and exhibit slightly decreased spleen weight and splenocyte number but show neither major signaling defects in DNA damage response nor developmental defects indicative of impaired double-strand break metabolism. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
T |
C |
1: 165,345,881 (GRCm39) |
I310T |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 35,073,629 (GRCm39) |
V469A |
possibly damaging |
Het |
| Agrn |
C |
T |
4: 156,261,141 (GRCm39) |
C652Y |
probably damaging |
Het |
| Ankfn1 |
C |
T |
11: 89,413,977 (GRCm39) |
V133M |
probably damaging |
Het |
| Ankrd13c |
A |
G |
3: 157,706,757 (GRCm39) |
T448A |
probably benign |
Het |
| Atp8b1 |
C |
T |
18: 64,678,335 (GRCm39) |
V854M |
probably damaging |
Het |
| B4galt2 |
T |
C |
4: 117,734,669 (GRCm39) |
H233R |
probably damaging |
Het |
| Bpifb5 |
T |
G |
2: 154,071,419 (GRCm39) |
Y249D |
possibly damaging |
Het |
| Brd1 |
T |
C |
15: 88,573,866 (GRCm39) |
I1078V |
possibly damaging |
Het |
| Celsr3 |
A |
G |
9: 108,726,083 (GRCm39) |
E3104G |
probably damaging |
Het |
| Cyp2c69 |
T |
A |
19: 39,839,593 (GRCm39) |
K343N |
probably benign |
Het |
| Cyp4f18 |
T |
A |
8: 72,746,799 (GRCm39) |
D331V |
probably damaging |
Het |
| D130040H23Rik |
T |
C |
8: 69,755,378 (GRCm39) |
V261A |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,421,247 (GRCm39) |
D391G |
probably damaging |
Het |
| Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
| Fat4 |
T |
C |
3: 38,944,238 (GRCm39) |
F1044L |
probably damaging |
Het |
| Frrs1 |
A |
T |
3: 116,672,057 (GRCm39) |
T52S |
probably benign |
Het |
| Gan |
G |
A |
8: 117,914,168 (GRCm39) |
V189I |
probably benign |
Het |
| Hnf1b |
A |
G |
11: 83,784,409 (GRCm39) |
|
probably benign |
Het |
| Itgae |
T |
C |
11: 73,036,431 (GRCm39) |
I1123T |
possibly damaging |
Het |
| Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
| Lrrc18 |
A |
G |
14: 32,730,478 (GRCm39) |
K6E |
possibly damaging |
Het |
| Map2 |
G |
A |
1: 66,452,339 (GRCm39) |
V492I |
probably benign |
Het |
| Mtr |
A |
T |
13: 12,250,430 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
G |
T |
11: 62,269,330 (GRCm39) |
A689E |
possibly damaging |
Het |
| Or52n2c |
G |
A |
7: 104,574,621 (GRCm39) |
L117F |
possibly damaging |
Het |
| Or5w22 |
T |
A |
2: 87,363,016 (GRCm39) |
V213D |
probably damaging |
Het |
| Palm |
T |
G |
10: 79,652,737 (GRCm39) |
V42G |
probably damaging |
Het |
| Pcm1 |
G |
A |
8: 41,740,738 (GRCm39) |
V995I |
probably benign |
Het |
| Pfkp |
A |
G |
13: 6,669,574 (GRCm39) |
V215A |
probably damaging |
Het |
| Prkg2 |
T |
C |
5: 99,142,420 (GRCm39) |
Y238C |
probably damaging |
Het |
| Prr14 |
C |
T |
7: 127,073,154 (GRCm39) |
A167V |
probably benign |
Het |
| Ptprn |
A |
C |
1: 75,234,587 (GRCm39) |
|
probably null |
Het |
| Rexo2 |
A |
T |
9: 48,380,190 (GRCm39) |
I214N |
probably damaging |
Het |
| Rrbp1 |
A |
G |
2: 143,830,233 (GRCm39) |
S645P |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Satb2 |
A |
T |
1: 56,987,392 (GRCm39) |
C64* |
probably null |
Het |
| Sez6 |
A |
G |
11: 77,853,871 (GRCm39) |
Y347C |
probably damaging |
Het |
| Sos2 |
A |
G |
12: 69,663,729 (GRCm39) |
I585T |
probably damaging |
Het |
| Spg11 |
G |
A |
2: 121,922,806 (GRCm39) |
T881M |
probably damaging |
Het |
| Tiam1 |
A |
T |
16: 89,664,396 (GRCm39) |
|
probably null |
Het |
| Tlcd5 |
A |
G |
9: 43,022,923 (GRCm39) |
W126R |
probably damaging |
Het |
| Top1 |
T |
C |
2: 160,556,152 (GRCm39) |
I537T |
probably damaging |
Het |
| Trappc6a |
A |
G |
7: 19,248,138 (GRCm39) |
S33G |
probably benign |
Het |
| Tspan11 |
G |
C |
6: 127,926,768 (GRCm39) |
V239L |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,155,462 (GRCm39) |
V2190A |
possibly damaging |
Het |
| Uty |
A |
G |
Y: 1,245,440 (GRCm39) |
V35A |
probably benign |
Het |
| Vmn2r56 |
A |
G |
7: 12,427,954 (GRCm39) |
S771P |
probably benign |
Het |
| Wars2 |
C |
T |
3: 99,124,177 (GRCm39) |
A346V |
probably damaging |
Het |
| Wdr87-ps |
G |
T |
7: 29,229,854 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp142 |
G |
T |
1: 74,611,247 (GRCm39) |
N849K |
probably benign |
Het |
| Zfp180 |
A |
T |
7: 23,800,948 (GRCm39) |
N66I |
probably benign |
Het |
|
| Other mutations in Usp28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00763:Usp28
|
APN |
9 |
48,939,463 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01105:Usp28
|
APN |
9 |
48,921,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01124:Usp28
|
APN |
9 |
48,948,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01304:Usp28
|
APN |
9 |
48,938,119 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01527:Usp28
|
APN |
9 |
48,937,173 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01859:Usp28
|
APN |
9 |
48,935,321 (GRCm39) |
nonsense |
probably null |
|
|
IGL01860:Usp28
|
APN |
9 |
48,943,543 (GRCm39) |
nonsense |
probably null |
|
|
IGL02047:Usp28
|
APN |
9 |
48,946,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02188:Usp28
|
APN |
9 |
48,935,309 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02267:Usp28
|
APN |
9 |
48,935,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02472:Usp28
|
APN |
9 |
48,949,069 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02675:Usp28
|
APN |
9 |
48,950,391 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02982:Usp28
|
APN |
9 |
48,929,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03105:Usp28
|
APN |
9 |
48,950,355 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0100:Usp28
|
UTSW |
9 |
48,947,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0114:Usp28
|
UTSW |
9 |
48,950,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0196:Usp28
|
UTSW |
9 |
48,939,578 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0206:Usp28
|
UTSW |
9 |
48,939,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0349:Usp28
|
UTSW |
9 |
48,921,581 (GRCm39) |
nonsense |
probably null |
|
|
R0379:Usp28
|
UTSW |
9 |
48,935,367 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0454:Usp28
|
UTSW |
9 |
48,950,401 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0479:Usp28
|
UTSW |
9 |
48,948,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0540:Usp28
|
UTSW |
9 |
48,935,360 (GRCm39) |
missense |
probably benign |
|
|
R0726:Usp28
|
UTSW |
9 |
48,915,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0835:Usp28
|
UTSW |
9 |
48,912,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0928:Usp28
|
UTSW |
9 |
48,942,191 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1271:Usp28
|
UTSW |
9 |
48,947,261 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1539:Usp28
|
UTSW |
9 |
48,949,096 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1687:Usp28
|
UTSW |
9 |
48,935,317 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1867:Usp28
|
UTSW |
9 |
48,920,494 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1868:Usp28
|
UTSW |
9 |
48,928,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1884:Usp28
|
UTSW |
9 |
48,947,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2029:Usp28
|
UTSW |
9 |
48,896,803 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2046:Usp28
|
UTSW |
9 |
48,950,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2379:Usp28
|
UTSW |
9 |
48,914,395 (GRCm39) |
missense |
probably null |
0.94 |
|
R2404:Usp28
|
UTSW |
9 |
48,948,558 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3196:Usp28
|
UTSW |
9 |
48,937,125 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3831:Usp28
|
UTSW |
9 |
48,946,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3922:Usp28
|
UTSW |
9 |
48,942,223 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3924:Usp28
|
UTSW |
9 |
48,942,223 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3926:Usp28
|
UTSW |
9 |
48,942,223 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3943:Usp28
|
UTSW |
9 |
48,911,666 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4834:Usp28
|
UTSW |
9 |
48,912,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5041:Usp28
|
UTSW |
9 |
48,949,073 (GRCm39) |
missense |
probably benign |
|
|
R5186:Usp28
|
UTSW |
9 |
48,921,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5308:Usp28
|
UTSW |
9 |
48,948,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5870:Usp28
|
UTSW |
9 |
48,937,285 (GRCm39) |
nonsense |
probably null |
|
|
R6838:Usp28
|
UTSW |
9 |
48,911,730 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6959:Usp28
|
UTSW |
9 |
48,912,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7058:Usp28
|
UTSW |
9 |
48,950,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7348:Usp28
|
UTSW |
9 |
48,942,177 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7766:Usp28
|
UTSW |
9 |
48,947,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7814:Usp28
|
UTSW |
9 |
48,915,218 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7828:Usp28
|
UTSW |
9 |
48,915,202 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8167:Usp28
|
UTSW |
9 |
48,949,148 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8226:Usp28
|
UTSW |
9 |
48,926,697 (GRCm39) |
splice site |
probably null |
|
|
R8273:Usp28
|
UTSW |
9 |
48,938,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8972:Usp28
|
UTSW |
9 |
48,949,124 (GRCm39) |
missense |
probably null |
0.83 |
|
R8998:Usp28
|
UTSW |
9 |
48,949,139 (GRCm39) |
missense |
probably benign |
|
|
R9312:Usp28
|
UTSW |
9 |
48,926,439 (GRCm39) |
nonsense |
probably null |
|
|
R9483:Usp28
|
UTSW |
9 |
48,947,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9488:Usp28
|
UTSW |
9 |
48,935,288 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9524:Usp28
|
UTSW |
9 |
48,947,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9555:Usp28
|
UTSW |
9 |
48,952,736 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Usp28
|
UTSW |
9 |
48,947,225 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCTGACCCCTTAGTTTGTGC -3'
(R):5'- TGGCTTATACACCCAGGCAACCTC -3'
Sequencing Primer
(F):5'- CTCTAAATTGGCGTGGGCG -3'
(R):5'- GGCAACCTCACACAGGC -3'
|
| Posted On |
2014-12-10 |
Incidental Mutation