Incidental Mutation 'IGL02472:Usp28'
| ID |
294775 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Usp28
|
| Ensembl Gene |
ENSMUSG00000032267 |
| Gene Name |
ubiquitin specific peptidase 28 |
| Synonyms |
9830148O20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02472
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
48985375-49042517 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 49037769 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 863
(Y863N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047349]
[ENSMUST00000213874]
[ENSMUST00000215856]
|
| AlphaFold |
Q5I043 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047349
AA Change: Y888N
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000047467
Gene: ENSMUSG00000032267
AA Change: Y888N
| 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 |
noncoding transcript
Transcript: ENSMUST00000213457
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213874
AA Change: Y863N
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215118
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215856
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216657
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
A |
G |
15: 76,950,378 (GRCm38) |
N158S |
probably damaging |
Het |
| Ankrd17 |
A |
C |
5: 90,264,151 (GRCm38) |
L1285V |
probably damaging |
Het |
| Atp8b2 |
G |
A |
3: 89,954,239 (GRCm38) |
T267I |
probably damaging |
Het |
| Becn1 |
C |
T |
11: 101,291,398 (GRCm38) |
G115D |
probably benign |
Het |
| Cd3eap |
T |
C |
7: 19,359,105 (GRCm38) |
D50G |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,798,729 (GRCm38) |
M200I |
probably benign |
Het |
| Chd6 |
A |
C |
2: 160,984,452 (GRCm38) |
|
probably benign |
Het |
| Col22a1 |
A |
G |
15: 71,827,753 (GRCm38) |
|
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,401,492 (GRCm38) |
G219V |
probably damaging |
Het |
| Dnm2 |
A |
G |
9: 21,485,708 (GRCm38) |
I494V |
possibly damaging |
Het |
| Dock2 |
T |
A |
11: 34,249,801 (GRCm38) |
E1416D |
probably benign |
Het |
| Eif2ak1 |
A |
G |
5: 143,884,883 (GRCm38) |
H339R |
probably benign |
Het |
| Espnl |
C |
T |
1: 91,340,534 (GRCm38) |
P294L |
probably benign |
Het |
| Ftmt |
T |
A |
18: 52,331,840 (GRCm38) |
I76N |
possibly damaging |
Het |
| Gorasp2 |
T |
G |
2: 70,676,459 (GRCm38) |
|
probably benign |
Het |
| Hadhb |
T |
A |
5: 30,184,063 (GRCm38) |
M468K |
possibly damaging |
Het |
| Hfm1 |
A |
G |
5: 106,873,928 (GRCm38) |
|
probably benign |
Het |
| Inpp5j |
T |
C |
11: 3,495,338 (GRCm38) |
|
probably benign |
Het |
| Ipo7 |
T |
A |
7: 110,040,853 (GRCm38) |
F288I |
probably damaging |
Het |
| Kcnv1 |
T |
A |
15: 45,109,123 (GRCm38) |
K455* |
probably null |
Het |
| Kdm5a |
A |
G |
6: 120,406,730 (GRCm38) |
|
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,850,077 (GRCm38) |
S3122F |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,910,901 (GRCm38) |
I440V |
probably benign |
Het |
| Mib2 |
T |
A |
4: 155,656,746 (GRCm38) |
I545F |
probably damaging |
Het |
| Nav2 |
C |
T |
7: 49,546,041 (GRCm38) |
P1055L |
probably damaging |
Het |
| Olfr111 |
C |
A |
17: 37,530,749 (GRCm38) |
F257L |
probably damaging |
Het |
| Olfr1257 |
T |
A |
2: 89,881,411 (GRCm38) |
I195N |
probably benign |
Het |
| Plch1 |
A |
T |
3: 63,701,849 (GRCm38) |
L65Q |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,921,862 (GRCm38) |
I396V |
possibly damaging |
Het |
| Ryr1 |
A |
T |
7: 29,040,844 (GRCm38) |
N3917K |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,752,314 (GRCm38) |
T80A |
probably damaging |
Het |
| Sema3f |
C |
T |
9: 107,687,736 (GRCm38) |
E307K |
probably damaging |
Het |
| Serpinb9b |
A |
T |
13: 33,039,970 (GRCm38) |
|
probably benign |
Het |
| Siglec15 |
T |
A |
18: 78,043,617 (GRCm38) |
K342N |
possibly damaging |
Het |
| Slc2a12 |
T |
C |
10: 22,665,155 (GRCm38) |
F303S |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,580,142 (GRCm38) |
V705A |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,774,176 (GRCm38) |
|
probably benign |
Het |
| Tm6sf1 |
A |
T |
7: 81,875,824 (GRCm38) |
|
probably benign |
Het |
| Tmem245 |
T |
C |
4: 56,899,119 (GRCm38) |
Y269C |
probably damaging |
Het |
| Txndc2 |
A |
G |
17: 65,637,976 (GRCm38) |
I402T |
possibly damaging |
Het |
| Ube4b |
A |
G |
4: 149,387,079 (GRCm38) |
|
probably null |
Het |
| Vmn2r69 |
T |
C |
7: 85,409,752 (GRCm38) |
I534V |
probably benign |
Het |
| Wdr89 |
A |
T |
12: 75,632,969 (GRCm38) |
D170E |
probably damaging |
Het |
| Zfp280d |
C |
A |
9: 72,301,711 (GRCm38) |
N74K |
probably damaging |
Het |
| Zfp518a |
G |
A |
19: 40,914,617 (GRCm38) |
G997R |
probably damaging |
Het |
|
| Other mutations in Usp28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00763:Usp28
|
APN |
9 |
49,028,163 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01105:Usp28
|
APN |
9 |
49,010,250 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01124:Usp28
|
APN |
9 |
49,037,213 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01304:Usp28
|
APN |
9 |
49,026,819 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01527:Usp28
|
APN |
9 |
49,025,873 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01859:Usp28
|
APN |
9 |
49,024,021 (GRCm38) |
nonsense |
probably null |
|
|
IGL01860:Usp28
|
APN |
9 |
49,032,243 (GRCm38) |
nonsense |
probably null |
|
|
IGL02047:Usp28
|
APN |
9 |
49,035,641 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02188:Usp28
|
APN |
9 |
49,024,009 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02267:Usp28
|
APN |
9 |
49,023,965 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02675:Usp28
|
APN |
9 |
49,039,091 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL02982:Usp28
|
APN |
9 |
49,018,439 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03105:Usp28
|
APN |
9 |
49,039,055 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0100:Usp28
|
UTSW |
9 |
49,035,932 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0114:Usp28
|
UTSW |
9 |
49,039,023 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0196:Usp28
|
UTSW |
9 |
49,028,278 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0206:Usp28
|
UTSW |
9 |
49,028,269 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0349:Usp28
|
UTSW |
9 |
49,010,281 (GRCm38) |
nonsense |
probably null |
|
|
R0379:Usp28
|
UTSW |
9 |
49,024,067 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R0454:Usp28
|
UTSW |
9 |
49,039,101 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0479:Usp28
|
UTSW |
9 |
49,037,213 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0540:Usp28
|
UTSW |
9 |
49,024,060 (GRCm38) |
missense |
probably benign |
|
|
R0726:Usp28
|
UTSW |
9 |
49,003,869 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0835:Usp28
|
UTSW |
9 |
49,001,524 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0928:Usp28
|
UTSW |
9 |
49,030,891 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R1271:Usp28
|
UTSW |
9 |
49,035,961 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1534:Usp28
|
UTSW |
9 |
48,985,506 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1539:Usp28
|
UTSW |
9 |
49,037,796 (GRCm38) |
missense |
probably benign |
0.07 |
|
R1687:Usp28
|
UTSW |
9 |
49,024,017 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1867:Usp28
|
UTSW |
9 |
49,009,194 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1868:Usp28
|
UTSW |
9 |
49,016,707 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1884:Usp28
|
UTSW |
9 |
49,035,947 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2029:Usp28
|
UTSW |
9 |
48,985,503 (GRCm38) |
missense |
probably benign |
0.22 |
|
R2046:Usp28
|
UTSW |
9 |
49,039,075 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2379:Usp28
|
UTSW |
9 |
49,003,095 (GRCm38) |
missense |
probably null |
0.94 |
|
R2404:Usp28
|
UTSW |
9 |
49,037,258 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3196:Usp28
|
UTSW |
9 |
49,025,825 (GRCm38) |
missense |
probably benign |
0.03 |
|
R3831:Usp28
|
UTSW |
9 |
49,035,638 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3922:Usp28
|
UTSW |
9 |
49,030,923 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3924:Usp28
|
UTSW |
9 |
49,030,923 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3926:Usp28
|
UTSW |
9 |
49,030,923 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3943:Usp28
|
UTSW |
9 |
49,000,366 (GRCm38) |
missense |
probably benign |
0.12 |
|
R4834:Usp28
|
UTSW |
9 |
49,001,536 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5041:Usp28
|
UTSW |
9 |
49,037,773 (GRCm38) |
missense |
probably benign |
|
|
R5186:Usp28
|
UTSW |
9 |
49,010,250 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5308:Usp28
|
UTSW |
9 |
49,037,201 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5870:Usp28
|
UTSW |
9 |
49,025,985 (GRCm38) |
nonsense |
probably null |
|
|
R6838:Usp28
|
UTSW |
9 |
49,000,430 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6959:Usp28
|
UTSW |
9 |
49,001,542 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7058:Usp28
|
UTSW |
9 |
49,039,156 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7348:Usp28
|
UTSW |
9 |
49,030,877 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7766:Usp28
|
UTSW |
9 |
49,035,883 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7814:Usp28
|
UTSW |
9 |
49,003,918 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7828:Usp28
|
UTSW |
9 |
49,003,902 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8167:Usp28
|
UTSW |
9 |
49,037,848 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8226:Usp28
|
UTSW |
9 |
49,015,397 (GRCm38) |
splice site |
probably null |
|
|
R8273:Usp28
|
UTSW |
9 |
49,026,882 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8972:Usp28
|
UTSW |
9 |
49,037,824 (GRCm38) |
missense |
probably null |
0.83 |
|
R8998:Usp28
|
UTSW |
9 |
49,037,839 (GRCm38) |
missense |
probably benign |
|
|
R9312:Usp28
|
UTSW |
9 |
49,015,139 (GRCm38) |
nonsense |
probably null |
|
|
R9483:Usp28
|
UTSW |
9 |
49,035,737 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9488:Usp28
|
UTSW |
9 |
49,023,988 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9524:Usp28
|
UTSW |
9 |
49,035,726 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9555:Usp28
|
UTSW |
9 |
49,041,436 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Z1176:Usp28
|
UTSW |
9 |
49,035,925 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation