Incidental Mutation 'R4744:Usp25'
| ID |
356610 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp25
|
| Ensembl Gene |
ENSMUSG00000022867 |
| Gene Name |
ubiquitin specific peptidase 25 |
| Synonyms |
|
| MMRRC Submission |
042027-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4744 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
76810594-76913668 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76911877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 969
(L969M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023580]
|
| AlphaFold |
P57080 |
| PDB Structure |
Solution Structure of RSGI RUH-013, a UBA domain in Mouse cDNA [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023580
AA Change: L969M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023580
Gene: ENSMUSG00000022867
AA Change: L969M
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1VDL|A
|
1 |
67 |
2e-35 |
PDB |
|
Blast:UBA
|
17 |
56 |
9e-16 |
BLAST |
|
UIM
|
97 |
116 |
5.27e-3 |
SMART |
|
Pfam:UIM
|
124 |
140 |
6.7e-3 |
PFAM |
|
Pfam:UCH
|
168 |
655 |
9.3e-55 |
PFAM |
|
Pfam:UCH_1
|
169 |
632 |
3.1e-14 |
PFAM |
|
coiled coil region
|
685 |
714 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
99% (82/83) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ubiquitin (MIM 191339) is a highly conserved 76-amino acid protein involved in regulation of intracellular protein breakdown, cell cycle regulation, and stress response. Ubiquitin is released from degraded proteins by disassembly of the polyubiquitin chains, which is mediated by ubiquitin-specific proteases (USPs), such as USP25 (Valero et al., 1999 [PubMed 10644437]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit increased severity of IL17-induced pulmonary inflammation and MOG-induced experimental autoimmune encephalomyelitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
T |
C |
5: 115,017,617 (GRCm39) |
S143P |
possibly damaging |
Het |
| 4933427D14Rik |
T |
C |
11: 72,066,365 (GRCm39) |
K614E |
probably damaging |
Het |
| Aatk |
A |
G |
11: 119,906,948 (GRCm39) |
M155T |
possibly damaging |
Het |
| Acvr2b |
T |
C |
9: 119,260,328 (GRCm39) |
L333P |
probably damaging |
Het |
| Adam22 |
T |
C |
5: 8,128,699 (GRCm39) |
E865G |
probably damaging |
Het |
| Add2 |
A |
G |
6: 86,087,870 (GRCm39) |
S358G |
probably damaging |
Het |
| Agap2 |
T |
C |
10: 126,926,072 (GRCm39) |
|
probably null |
Het |
| Alkbh8 |
G |
A |
9: 3,344,604 (GRCm39) |
W49* |
probably null |
Het |
| AU015228 |
A |
T |
2: 129,942,549 (GRCm39) |
|
noncoding transcript |
Het |
| Bank1 |
G |
T |
3: 135,953,450 (GRCm39) |
R102S |
probably benign |
Het |
| Brap |
T |
A |
5: 121,800,193 (GRCm39) |
D27E |
probably damaging |
Het |
| Cyb5r2 |
G |
T |
7: 107,349,484 (GRCm39) |
H276N |
possibly damaging |
Het |
| Dhh |
A |
G |
15: 98,792,139 (GRCm39) |
F290L |
possibly damaging |
Het |
| Dhrs7 |
T |
A |
12: 72,699,025 (GRCm39) |
N319I |
possibly damaging |
Het |
| Ebpl |
A |
G |
14: 61,597,682 (GRCm39) |
V53A |
probably damaging |
Het |
| Eif3j2 |
TGCCGCCGCCGCCGCCGCCGCCGCCGCC |
TGCCGCCGCCGCCGCCGCCGCCGCC |
18: 43,610,782 (GRCm39) |
|
probably benign |
Het |
| Etnk1 |
A |
C |
6: 143,132,319 (GRCm39) |
N220T |
probably damaging |
Het |
| F11r |
T |
A |
1: 171,288,166 (GRCm39) |
V64D |
probably benign |
Het |
| Fam171a1 |
T |
C |
2: 3,225,946 (GRCm39) |
S360P |
probably damaging |
Het |
| Fignl1 |
A |
G |
11: 11,751,585 (GRCm39) |
M490T |
probably damaging |
Het |
| Fpr-rs7 |
A |
T |
17: 20,334,265 (GRCm39) |
M75K |
probably benign |
Het |
| Fzd7 |
T |
A |
1: 59,523,595 (GRCm39) |
F493I |
possibly damaging |
Het |
| Galnt14 |
G |
T |
17: 73,814,828 (GRCm39) |
P412T |
probably damaging |
Het |
| Gcg |
T |
A |
2: 62,308,975 (GRCm39) |
S60C |
probably damaging |
Het |
| Ggt1 |
A |
G |
10: 75,421,733 (GRCm39) |
K527E |
probably benign |
Het |
| Gm16551 |
T |
A |
9: 74,758,153 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9972 |
A |
G |
11: 42,927,517 (GRCm39) |
K55E |
unknown |
Het |
| Gpr141 |
T |
A |
13: 19,935,884 (GRCm39) |
D297V |
probably benign |
Het |
| Grin2b |
G |
A |
6: 135,755,697 (GRCm39) |
S539L |
probably damaging |
Het |
| Hhipl1 |
A |
T |
12: 108,286,238 (GRCm39) |
N515I |
possibly damaging |
Het |
| Hmcn1 |
T |
G |
1: 150,453,363 (GRCm39) |
E5317D |
probably damaging |
Het |
| Hsf5 |
T |
A |
11: 87,513,617 (GRCm39) |
N227K |
probably benign |
Het |
| Igfn1 |
A |
T |
1: 135,910,196 (GRCm39) |
D129E |
probably benign |
Het |
| Invs |
T |
C |
4: 48,397,609 (GRCm39) |
F339L |
probably damaging |
Het |
| Jak2 |
T |
A |
19: 29,239,656 (GRCm39) |
S17T |
probably benign |
Het |
| Mdga2 |
T |
A |
12: 66,844,501 (GRCm39) |
I166F |
probably benign |
Het |
| Nck1 |
T |
C |
9: 100,388,797 (GRCm39) |
I6V |
probably benign |
Het |
| Neb |
T |
C |
2: 52,040,589 (GRCm39) |
D6624G |
probably benign |
Het |
| Nmur2 |
A |
G |
11: 55,931,661 (GRCm39) |
Y17H |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,964,310 (GRCm39) |
L1298P |
probably damaging |
Het |
| Ocel1 |
A |
G |
8: 71,825,397 (GRCm39) |
E161G |
probably damaging |
Het |
| Or1j16 |
A |
T |
2: 36,530,991 (GRCm39) |
|
probably null |
Het |
| Pabpc2 |
A |
G |
18: 39,907,881 (GRCm39) |
Y382C |
probably benign |
Het |
| Panx1 |
A |
G |
9: 14,921,594 (GRCm39) |
|
probably benign |
Het |
| Pdhx |
A |
T |
2: 102,872,641 (GRCm39) |
V147D |
probably benign |
Het |
| Pigz |
A |
T |
16: 31,764,151 (GRCm39) |
H403L |
probably damaging |
Het |
| Pilra |
T |
C |
5: 137,833,769 (GRCm39) |
|
probably null |
Het |
| Rbm47 |
T |
C |
5: 66,184,036 (GRCm39) |
D189G |
probably damaging |
Het |
| Rhobtb2 |
A |
G |
14: 70,031,451 (GRCm39) |
L558P |
probably damaging |
Het |
| Scarf2 |
G |
A |
16: 17,621,380 (GRCm39) |
R322H |
probably damaging |
Het |
| Septin3 |
T |
C |
15: 82,174,658 (GRCm39) |
|
probably null |
Het |
| Sirt2 |
T |
C |
7: 28,476,438 (GRCm39) |
F26L |
probably damaging |
Het |
| Slc1a1 |
A |
T |
19: 28,871,925 (GRCm39) |
T133S |
probably benign |
Het |
| Slc1a2 |
A |
G |
2: 102,568,214 (GRCm39) |
I84V |
probably benign |
Het |
| Slc28a2b |
A |
T |
2: 122,353,286 (GRCm39) |
K489* |
probably null |
Het |
| Slc6a9 |
A |
T |
4: 117,725,092 (GRCm39) |
Q562L |
probably benign |
Het |
| Snx29 |
C |
T |
16: 11,167,773 (GRCm39) |
Q25* |
probably null |
Het |
| St6galnac6 |
A |
G |
2: 32,508,555 (GRCm39) |
I231V |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,526,604 (GRCm39) |
T954A |
probably benign |
Het |
| Sufu |
A |
G |
19: 46,472,069 (GRCm39) |
M443V |
possibly damaging |
Het |
| Sv2b |
T |
C |
7: 74,856,266 (GRCm39) |
D8G |
probably benign |
Het |
| Tapbpl |
G |
A |
6: 125,205,248 (GRCm39) |
R233W |
probably damaging |
Het |
| Tex10 |
A |
G |
4: 48,469,990 (GRCm39) |
L25S |
probably benign |
Het |
| Trp53bp1 |
A |
T |
2: 121,041,794 (GRCm39) |
V1254D |
probably damaging |
Het |
| Ugt3a1 |
T |
A |
15: 9,310,639 (GRCm39) |
I307N |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,839,126 (GRCm39) |
D575G |
probably damaging |
Het |
| Usf2 |
A |
T |
7: 30,654,197 (GRCm39) |
D166E |
probably damaging |
Het |
| Usp32 |
G |
A |
11: 84,885,219 (GRCm39) |
P1276L |
probably damaging |
Het |
| Vmn2r8 |
T |
A |
5: 108,956,447 (GRCm39) |
E58D |
probably benign |
Het |
| Zfp462 |
G |
T |
4: 55,011,598 (GRCm39) |
C40F |
probably damaging |
Het |
|
| Other mutations in Usp25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00846:Usp25
|
APN |
16 |
76,859,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01359:Usp25
|
APN |
16 |
76,856,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01380:Usp25
|
APN |
16 |
76,890,566 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01614:Usp25
|
APN |
16 |
76,874,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02065:Usp25
|
APN |
16 |
76,880,670 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02271:Usp25
|
APN |
16 |
76,912,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03184:Usp25
|
APN |
16 |
76,878,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03046:Usp25
|
UTSW |
16 |
76,871,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0433:Usp25
|
UTSW |
16 |
76,906,105 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0741:Usp25
|
UTSW |
16 |
76,868,596 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0944:Usp25
|
UTSW |
16 |
76,878,335 (GRCm39) |
splice site |
probably benign |
|
|
R1324:Usp25
|
UTSW |
16 |
76,877,275 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1341:Usp25
|
UTSW |
16 |
76,912,331 (GRCm39) |
missense |
probably benign |
|
|
R1373:Usp25
|
UTSW |
16 |
76,859,273 (GRCm39) |
splice site |
probably benign |
|
|
R1641:Usp25
|
UTSW |
16 |
76,868,559 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1777:Usp25
|
UTSW |
16 |
76,878,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1813:Usp25
|
UTSW |
16 |
76,911,838 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1960:Usp25
|
UTSW |
16 |
76,873,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2256:Usp25
|
UTSW |
16 |
76,910,682 (GRCm39) |
missense |
probably benign |
|
|
R2271:Usp25
|
UTSW |
16 |
76,873,317 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4404:Usp25
|
UTSW |
16 |
76,912,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4408:Usp25
|
UTSW |
16 |
76,912,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4502:Usp25
|
UTSW |
16 |
76,912,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4604:Usp25
|
UTSW |
16 |
76,912,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4612:Usp25
|
UTSW |
16 |
76,830,833 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4867:Usp25
|
UTSW |
16 |
76,847,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4932:Usp25
|
UTSW |
16 |
76,830,870 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5087:Usp25
|
UTSW |
16 |
76,874,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5165:Usp25
|
UTSW |
16 |
76,873,293 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5184:Usp25
|
UTSW |
16 |
76,906,115 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5307:Usp25
|
UTSW |
16 |
76,890,594 (GRCm39) |
missense |
probably benign |
|
|
R5331:Usp25
|
UTSW |
16 |
76,847,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5355:Usp25
|
UTSW |
16 |
76,847,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5479:Usp25
|
UTSW |
16 |
76,904,801 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5619:Usp25
|
UTSW |
16 |
76,830,833 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5646:Usp25
|
UTSW |
16 |
76,847,360 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5946:Usp25
|
UTSW |
16 |
76,911,942 (GRCm39) |
nonsense |
probably null |
|
|
R6013:Usp25
|
UTSW |
16 |
76,873,909 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6418:Usp25
|
UTSW |
16 |
76,859,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6653:Usp25
|
UTSW |
16 |
76,856,176 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6709:Usp25
|
UTSW |
16 |
76,880,820 (GRCm39) |
missense |
probably benign |
|
|
R6987:Usp25
|
UTSW |
16 |
76,874,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7418:Usp25
|
UTSW |
16 |
76,910,730 (GRCm39) |
nonsense |
probably null |
|
|
R7500:Usp25
|
UTSW |
16 |
76,874,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7886:Usp25
|
UTSW |
16 |
76,910,659 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7961:Usp25
|
UTSW |
16 |
76,856,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8005:Usp25
|
UTSW |
16 |
76,873,956 (GRCm39) |
missense |
probably benign |
|
|
R8046:Usp25
|
UTSW |
16 |
76,906,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8069:Usp25
|
UTSW |
16 |
76,865,943 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8140:Usp25
|
UTSW |
16 |
76,868,569 (GRCm39) |
nonsense |
probably null |
|
|
R8167:Usp25
|
UTSW |
16 |
76,904,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8437:Usp25
|
UTSW |
16 |
76,830,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8704:Usp25
|
UTSW |
16 |
76,856,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8903:Usp25
|
UTSW |
16 |
76,878,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9123:Usp25
|
UTSW |
16 |
76,911,969 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9276:Usp25
|
UTSW |
16 |
76,910,721 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9286:Usp25
|
UTSW |
16 |
76,904,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9368:Usp25
|
UTSW |
16 |
76,904,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9489:Usp25
|
UTSW |
16 |
76,874,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9515:Usp25
|
UTSW |
16 |
76,852,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9516:Usp25
|
UTSW |
16 |
76,852,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9580:Usp25
|
UTSW |
16 |
76,880,682 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9605:Usp25
|
UTSW |
16 |
76,874,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9667:Usp25
|
UTSW |
16 |
76,874,123 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0065:Usp25
|
UTSW |
16 |
76,878,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Usp25
|
UTSW |
16 |
76,878,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Usp25
|
UTSW |
16 |
76,868,680 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1176:Usp25
|
UTSW |
16 |
76,868,679 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Usp25
|
UTSW |
16 |
76,910,718 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Usp25
|
UTSW |
16 |
76,880,801 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGTATCATCATGTTCAGGTTCTC -3'
(R):5'- TGCTAGCTTGTAACGGAGGG -3'
Sequencing Primer
(F):5'- TCCTTTCTTAACTTACGATGAAGC -3'
(R):5'- GAGGCAGGACTCCAGAATATC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation