Incidental Mutation 'R3196:Usp28'
| ID |
267656 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp28
|
| Ensembl Gene |
ENSMUSG00000032267 |
| Gene Name |
ubiquitin specific peptidase 28 |
| Synonyms |
9830148O20Rik |
| MMRRC Submission |
040617-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3196 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
48896675-48953817 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 48937125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 483
(D483E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047349]
[ENSMUST00000213874]
[ENSMUST00000215856]
|
| AlphaFold |
Q5I043 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047349
AA Change: D508E
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000047467
Gene: ENSMUSG00000032267
AA Change: D508E
| 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 |
probably benign
Transcript: ENSMUST00000213874
AA Change: D483E
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215378
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215850
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215856
AA Change: D131E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
A |
T |
15: 57,892,132 (GRCm39) |
N158K |
probably benign |
Het |
| Acnat1 |
G |
C |
4: 49,447,457 (GRCm39) |
P357A |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 53,119,240 (GRCm39) |
C1102* |
probably null |
Het |
| Amelx |
T |
C |
X: 167,964,826 (GRCm39) |
|
probably benign |
Het |
| Brap |
G |
A |
5: 121,803,259 (GRCm39) |
V136I |
possibly damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Csgalnact1 |
TGG |
TG |
8: 68,913,737 (GRCm39) |
|
probably null |
Het |
| Csk |
A |
T |
9: 57,537,556 (GRCm39) |
C119* |
probably null |
Het |
| Dcbld1 |
T |
C |
10: 52,195,587 (GRCm39) |
L265P |
probably damaging |
Het |
| Desi1 |
T |
A |
15: 81,887,976 (GRCm39) |
K31N |
probably damaging |
Het |
| Dpy19l2 |
C |
A |
9: 24,607,285 (GRCm39) |
G59C |
probably damaging |
Het |
| Eif2b5 |
T |
C |
16: 20,324,272 (GRCm39) |
V498A |
probably benign |
Het |
| Epdr1 |
A |
T |
13: 19,778,815 (GRCm39) |
Y94N |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,404,905 (GRCm39) |
V552A |
probably benign |
Het |
| Focad |
A |
G |
4: 88,325,588 (GRCm39) |
E151G |
possibly damaging |
Het |
| Frem1 |
A |
G |
4: 82,932,351 (GRCm39) |
F117L |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,444,752 (GRCm39) |
Y2460N |
probably damaging |
Het |
| Gm3604 |
A |
T |
13: 62,517,868 (GRCm39) |
C163* |
probably null |
Het |
| Gpalpp1 |
A |
C |
14: 76,336,063 (GRCm39) |
|
probably null |
Het |
| Grid2ip |
A |
G |
5: 143,373,933 (GRCm39) |
I858V |
probably damaging |
Het |
| Grin2b |
ATTGTTGT |
ATTGT |
6: 135,709,453 (GRCm39) |
|
probably benign |
Het |
| Hps4 |
A |
G |
5: 112,512,429 (GRCm39) |
T182A |
probably damaging |
Het |
| Impa1 |
A |
T |
3: 10,394,075 (GRCm39) |
|
probably null |
Het |
| Kcnh3 |
T |
C |
15: 99,131,862 (GRCm39) |
S606P |
probably damaging |
Het |
| Kif23 |
T |
A |
9: 61,839,193 (GRCm39) |
R301* |
probably null |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lcp2 |
G |
T |
11: 34,040,670 (GRCm39) |
A529S |
probably benign |
Het |
| Lhx8 |
G |
A |
3: 154,035,925 (GRCm39) |
A22V |
probably benign |
Het |
| Lin28a |
A |
T |
4: 133,735,235 (GRCm39) |
S134T |
possibly damaging |
Het |
| Med27 |
T |
A |
2: 29,236,882 (GRCm39) |
V9E |
possibly damaging |
Het |
| Mmp7 |
C |
A |
9: 7,692,219 (GRCm39) |
S31R |
probably benign |
Het |
| Mtcl1 |
T |
G |
17: 66,650,829 (GRCm39) |
E1545D |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,409,126 (GRCm39) |
Y187H |
probably damaging |
Het |
| Myo3a |
G |
T |
2: 22,404,679 (GRCm39) |
K678N |
possibly damaging |
Het |
| Nsmce1 |
T |
C |
7: 125,085,645 (GRCm39) |
M15V |
probably benign |
Het |
| Nxpe3 |
A |
T |
16: 55,670,078 (GRCm39) |
N342K |
probably damaging |
Het |
| Or7g25 |
A |
G |
9: 19,160,495 (GRCm39) |
S67P |
probably damaging |
Het |
| Or8g2 |
T |
A |
9: 39,821,756 (GRCm39) |
I219N |
probably damaging |
Het |
| Pcdhb9 |
A |
G |
18: 37,534,663 (GRCm39) |
N219S |
probably benign |
Het |
| Pck2 |
T |
A |
14: 55,781,449 (GRCm39) |
V190E |
probably damaging |
Het |
| Pde4b |
G |
A |
4: 102,456,840 (GRCm39) |
A429T |
probably damaging |
Het |
| Phf1 |
T |
C |
17: 27,153,429 (GRCm39) |
V54A |
probably damaging |
Het |
| Pla2r1 |
T |
C |
2: 60,353,127 (GRCm39) |
E278G |
probably damaging |
Het |
| Ptges3 |
G |
T |
10: 127,908,016 (GRCm39) |
R122L |
probably benign |
Het |
| Rnpepl1 |
C |
T |
1: 92,844,881 (GRCm39) |
T391I |
probably damaging |
Het |
| Rps6kb1 |
G |
A |
11: 86,397,633 (GRCm39) |
A404V |
probably benign |
Het |
| Rrm2b |
T |
C |
15: 37,945,391 (GRCm39) |
|
probably null |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Skint9 |
T |
G |
4: 112,248,148 (GRCm39) |
I199L |
probably benign |
Het |
| Slc9b2 |
G |
T |
3: 135,042,290 (GRCm39) |
R523L |
probably benign |
Het |
| Slco1c1 |
T |
A |
6: 141,477,174 (GRCm39) |
|
probably null |
Het |
| Stox2 |
T |
C |
8: 47,645,865 (GRCm39) |
T532A |
probably damaging |
Het |
| Tbcel |
A |
G |
9: 42,327,248 (GRCm39) |
L385P |
probably damaging |
Het |
| Tle5 |
A |
G |
10: 81,401,474 (GRCm39) |
N181D |
probably benign |
Het |
| Tmem268 |
G |
A |
4: 63,496,149 (GRCm39) |
|
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Top3a |
G |
A |
11: 60,650,182 (GRCm39) |
T122M |
probably damaging |
Het |
| Trav7n-4 |
G |
A |
14: 53,329,088 (GRCm39) |
V33I |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,539,551 (GRCm39) |
E26151D |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,687,228 (GRCm39) |
|
probably benign |
Het |
| Tyk2 |
A |
G |
9: 21,035,328 (GRCm39) |
C195R |
possibly damaging |
Het |
| Ugt2b38 |
T |
C |
5: 87,558,078 (GRCm39) |
K528E |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,220,554 (GRCm39) |
D598G |
probably damaging |
Het |
| Vmn1r51 |
T |
G |
6: 90,106,498 (GRCm39) |
I138S |
probably damaging |
Het |
| Vps13b |
G |
A |
15: 35,869,541 (GRCm39) |
A2682T |
probably damaging |
Het |
| Wac |
T |
A |
18: 7,917,568 (GRCm39) |
V346E |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,347,579 (GRCm39) |
V1986A |
possibly damaging |
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 |
|
|
R1534:Usp28
|
UTSW |
9 |
48,896,806 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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 |
|
|
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'- TAAAGCAGCCGGTTTTCTGAAG -3'
(R):5'- AGCACCCACCTTGTATATCCTG -3'
Sequencing Primer
(F):5'- TAGGCCCTTAGCTATACCAGGATG -3'
(R):5'- GTATATCCTGTTCAATTTCACTCCG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation