Incidental Mutation 'R7351:Usp15'
| ID |
570585 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp15
|
| Ensembl Gene |
ENSMUSG00000020124 |
| Gene Name |
ubiquitin specific peptidase 15 |
| Synonyms |
Gcap18, E430033I05Rik, 4921514G19Rik |
| MMRRC Submission |
045437-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7351 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
122940911-123032900 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 122968904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 349
(M349K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151244
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020334]
[ENSMUST00000220377]
|
| AlphaFold |
Q8R5H1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020334
AA Change: M320K
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000020334
Gene: ENSMUSG00000020124
AA Change: M320K
| Domain | Start | End | E-Value | Type |
|---|
|
DUSP
|
23 |
121 |
1.5e-46 |
SMART |
|
Pfam:Ubiquitin_3
|
135 |
222 |
3.7e-38 |
PFAM |
|
low complexity region
|
242 |
262 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
288 |
930 |
6.8e-86 |
PFAM |
|
Pfam:UCH_1
|
289 |
506 |
1.1e-5 |
PFAM |
|
Pfam:USP7_C2
|
460 |
608 |
2e-7 |
PFAM |
|
Pfam:UCH_1
|
756 |
912 |
1.3e-11 |
PFAM |
|
low complexity region
|
959 |
976 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220377
AA Change: M349K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (56/57) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the large ubiquitin specific protease (Usp) family of proteins. These proteins are known to cleave ubiquitin, and contain a conserved cysteine residue (Cys box) and two conserved histidine residues (His box) that are thought to form part of the active site of the protease. This protein has been shown to cleave both the ubiquitin-proline and the ubiquitin-methionine bonds in vitro. This protein is thought to regulate many cellular processes through its deubiquitination activity, including the transforming growth factor beta (TGF-beta) pathway. Cardiac-specific overexpression of the human ortholog of this gene in mice causes enlargement of the heart that is more pronounced in the atrium than in the ventricle. This gene has two pseudogenes on chromosome 14. Alternative splicing results in multiple transcript variants that encode multiple protein isoforms.[provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for a knock-out allele or ENU induced allele exhibit resistance to pathological neuroinflammation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
C |
A |
3: 124,206,159 (GRCm39) |
G343V |
probably damaging |
Het |
| Adamts6 |
G |
A |
13: 104,526,620 (GRCm39) |
S516N |
possibly damaging |
Het |
| Ahi1 |
A |
G |
10: 20,841,832 (GRCm39) |
D301G |
probably damaging |
Het |
| Arhgef37 |
T |
A |
18: 61,631,286 (GRCm39) |
L566F |
possibly damaging |
Het |
| AU040320 |
A |
G |
4: 126,710,237 (GRCm39) |
N328D |
probably damaging |
Het |
| Bicc1 |
G |
T |
10: 70,783,730 (GRCm39) |
T469K |
probably benign |
Het |
| Brk1 |
T |
C |
6: 113,592,742 (GRCm39) |
S42P |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,903,887 (GRCm39) |
E351G |
possibly damaging |
Het |
| Cenpo |
A |
T |
12: 4,266,581 (GRCm39) |
F176I |
probably damaging |
Het |
| Cfap97d1 |
A |
G |
11: 101,882,331 (GRCm39) |
E163G |
probably benign |
Het |
| Clec12b |
A |
G |
6: 129,356,874 (GRCm39) |
|
probably null |
Het |
| Ddx42 |
A |
G |
11: 106,138,508 (GRCm39) |
N769S |
probably benign |
Het |
| Drc7 |
A |
G |
8: 95,785,135 (GRCm39) |
D165G |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,167,145 (GRCm39) |
I486N |
probably damaging |
Het |
| Gmip |
A |
G |
8: 70,270,034 (GRCm39) |
D679G |
probably benign |
Het |
| Gml2 |
T |
C |
15: 74,693,225 (GRCm39) |
V76A |
possibly damaging |
Het |
| Gpr26 |
T |
C |
7: 131,576,094 (GRCm39) |
C253R |
probably damaging |
Het |
| H2-Q4 |
A |
G |
17: 35,601,854 (GRCm39) |
T239A |
possibly damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,543,640 (GRCm39) |
Y2845F |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,433,240 (GRCm39) |
Y550H |
probably damaging |
Het |
| Irgm2 |
G |
A |
11: 58,110,431 (GRCm39) |
V41M |
possibly damaging |
Het |
| Lrp2 |
C |
T |
2: 69,278,486 (GRCm39) |
G3956R |
probably damaging |
Het |
| Matn2 |
G |
A |
15: 34,345,482 (GRCm39) |
R163H |
probably damaging |
Het |
| Mxd1 |
A |
G |
6: 86,628,448 (GRCm39) |
S151P |
probably damaging |
Het |
| Or10ak16 |
T |
C |
4: 118,751,033 (GRCm39) |
V251A |
probably benign |
Het |
| Or4a73 |
C |
T |
2: 89,420,857 (GRCm39) |
G201S |
probably benign |
Het |
| Or5m10b |
G |
T |
2: 85,694,415 (GRCm39) |
|
probably benign |
Het |
| Or8b3 |
C |
T |
9: 38,314,739 (GRCm39) |
L190F |
probably damaging |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Plcg2 |
A |
G |
8: 118,317,049 (GRCm39) |
E642G |
possibly damaging |
Het |
| Pramel6 |
T |
A |
2: 87,340,672 (GRCm39) |
F335I |
probably benign |
Het |
| Psd |
G |
T |
19: 46,310,869 (GRCm39) |
S393R |
probably benign |
Het |
| Pwwp2a |
A |
G |
11: 43,573,107 (GRCm39) |
D63G |
probably benign |
Het |
| Rbm28 |
T |
C |
6: 29,158,879 (GRCm39) |
T139A |
probably benign |
Het |
| Ripk2 |
T |
G |
4: 16,155,048 (GRCm39) |
E157A |
probably damaging |
Het |
| Rnf145 |
G |
A |
11: 44,439,623 (GRCm39) |
V140I |
possibly damaging |
Het |
| Rnf38 |
T |
C |
4: 44,149,102 (GRCm39) |
N114D |
probably benign |
Het |
| Samd9l |
G |
A |
6: 3,374,157 (GRCm39) |
R1035C |
probably benign |
Het |
| Sec14l3 |
A |
G |
11: 4,024,785 (GRCm39) |
T245A |
probably benign |
Het |
| Serpina10 |
A |
T |
12: 103,595,194 (GRCm39) |
F8L |
probably benign |
Het |
| Slc16a8 |
T |
A |
15: 79,137,841 (GRCm39) |
D56V |
probably damaging |
Het |
| Spag9 |
A |
T |
11: 93,983,802 (GRCm39) |
E726D |
probably benign |
Het |
| Spg11 |
A |
G |
2: 121,900,412 (GRCm39) |
F1547L |
possibly damaging |
Het |
| Sspo |
T |
C |
6: 48,441,855 (GRCm39) |
I1955T |
possibly damaging |
Het |
| Stx18 |
T |
A |
5: 38,196,755 (GRCm39) |
V27E |
probably benign |
Het |
| Taf1c |
A |
G |
8: 120,325,739 (GRCm39) |
S708P |
probably damaging |
Het |
| Tas2r126 |
T |
C |
6: 42,412,240 (GRCm39) |
F258L |
probably benign |
Het |
| Tdpoz2 |
C |
T |
3: 93,559,900 (GRCm39) |
W24* |
probably null |
Het |
| Tmc8 |
T |
C |
11: 117,674,654 (GRCm39) |
L123P |
probably damaging |
Het |
| Trmo |
A |
T |
4: 46,387,716 (GRCm39) |
Y35N |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,598,030 (GRCm39) |
V19628I |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,770,274 (GRCm39) |
A2685V |
unknown |
Het |
| Vmn2r89 |
A |
G |
14: 51,693,739 (GRCm39) |
N363S |
probably benign |
Het |
| Vwa3a |
T |
A |
7: 120,375,559 (GRCm39) |
I423N |
probably damaging |
Het |
| Zfp592 |
T |
C |
7: 80,691,439 (GRCm39) |
V1206A |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,218,547 (GRCm39) |
Y358N |
probably damaging |
Het |
|
| Other mutations in Usp15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00498:Usp15
|
APN |
10 |
122,949,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02148:Usp15
|
APN |
10 |
122,963,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02737:Usp15
|
APN |
10 |
122,966,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03054:Usp15
|
APN |
10 |
122,961,836 (GRCm39) |
splice site |
probably benign |
|
|
IGL03163:Usp15
|
APN |
10 |
123,007,049 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1755:Usp15
|
UTSW |
10 |
122,968,949 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1981:Usp15
|
UTSW |
10 |
122,960,946 (GRCm39) |
splice site |
probably benign |
|
|
R2049:Usp15
|
UTSW |
10 |
122,955,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3037:Usp15
|
UTSW |
10 |
122,999,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3698:Usp15
|
UTSW |
10 |
123,017,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3828:Usp15
|
UTSW |
10 |
123,032,775 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3845:Usp15
|
UTSW |
10 |
122,955,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4838:Usp15
|
UTSW |
10 |
122,963,662 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4954:Usp15
|
UTSW |
10 |
122,967,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5204:Usp15
|
UTSW |
10 |
122,949,545 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5274:Usp15
|
UTSW |
10 |
123,004,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5387:Usp15
|
UTSW |
10 |
122,967,191 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5474:Usp15
|
UTSW |
10 |
122,963,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5501:Usp15
|
UTSW |
10 |
123,011,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5665:Usp15
|
UTSW |
10 |
122,966,892 (GRCm39) |
nonsense |
probably null |
|
|
R5846:Usp15
|
UTSW |
10 |
123,017,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5850:Usp15
|
UTSW |
10 |
122,960,417 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6163:Usp15
|
UTSW |
10 |
123,004,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6735:Usp15
|
UTSW |
10 |
123,004,272 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6828:Usp15
|
UTSW |
10 |
122,963,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7170:Usp15
|
UTSW |
10 |
123,007,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7197:Usp15
|
UTSW |
10 |
122,966,910 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7368:Usp15
|
UTSW |
10 |
123,032,798 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7447:Usp15
|
UTSW |
10 |
123,011,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8099:Usp15
|
UTSW |
10 |
122,982,826 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8169:Usp15
|
UTSW |
10 |
122,961,798 (GRCm39) |
missense |
|
|
|
R8316:Usp15
|
UTSW |
10 |
122,959,848 (GRCm39) |
missense |
|
|
|
R8795:Usp15
|
UTSW |
10 |
122,988,953 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9005:Usp15
|
UTSW |
10 |
122,982,703 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9023:Usp15
|
UTSW |
10 |
122,961,498 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9156:Usp15
|
UTSW |
10 |
122,949,553 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9198:Usp15
|
UTSW |
10 |
123,004,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9278:Usp15
|
UTSW |
10 |
123,007,112 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9592:Usp15
|
UTSW |
10 |
122,999,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Usp15
|
UTSW |
10 |
123,032,866 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTGTCTTTGTGAGGCCAG -3'
(R):5'- GCACAAGGAACCGTTTCTACTG -3'
Sequencing Primer
(F):5'- CTTTGTGAGGCCAGGAGAC -3'
(R):5'- ACAAGGAACCGTTTCTACTGCTCTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation