Incidental Mutation 'R1700:Usp21'
| ID |
189620 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp21
|
| Ensembl Gene |
ENSMUSG00000053483 |
| Gene Name |
ubiquitin specific peptidase 21 |
| Synonyms |
Usp23, W53272, ESTM28, Usp16 |
| MMRRC Submission |
039733-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1700 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
171109523-171115534 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 171111295 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 379
(L379F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120161
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065941]
[ENSMUST00000073120]
[ENSMUST00000080001]
[ENSMUST00000111302]
[ENSMUST00000111305]
[ENSMUST00000111306]
[ENSMUST00000149187]
[ENSMUST00000144576]
[ENSMUST00000192956]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065941
AA Change: L379F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064002
Gene: ENSMUSG00000053483
AA Change: L379F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
160 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
211 |
556 |
9.4e-66 |
PFAM |
|
Pfam:UCH_1
|
212 |
538 |
9.6e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073120
|
| SMART Domains |
Protein: ENSMUSP00000072863
Gene: ENSMUSG00000062729
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_binding_8
|
7 |
74 |
1.3e-9 |
PFAM |
|
Pfam:Amino_oxidase
|
12 |
471 |
1.7e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080001
|
| SMART Domains |
Protein: ENSMUSP00000078914
Gene: ENSMUSG00000062963
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UFC1
|
4 |
164 |
1.3e-93 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111302
|
| SMART Domains |
Protein: ENSMUSP00000106933
Gene: ENSMUSG00000062963
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UFC1
|
6 |
160 |
1.3e-88 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111305
AA Change: L379F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106936
Gene: ENSMUSG00000053483
AA Change: L379F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
160 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
211 |
556 |
9.4e-66 |
PFAM |
|
Pfam:UCH_1
|
212 |
538 |
9.6e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111306
AA Change: L382F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106938
Gene: ENSMUSG00000053483
AA Change: L382F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
160 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
211 |
559 |
4.1e-60 |
PFAM |
|
Pfam:UCH_1
|
215 |
541 |
3.6e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126557
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149187
AA Change: L379F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120161
Gene: ENSMUSG00000053483
AA Change: L379F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
160 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
211 |
438 |
1e-36 |
PFAM |
|
Pfam:UCH_1
|
212 |
436 |
2.1e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142656
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145019
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138974
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144393
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126729
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127101
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147176
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126765
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151442
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153164
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144576
|
| SMART Domains |
Protein: ENSMUSP00000137977
Gene: ENSMUSG00000062963
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UFC1
|
4 |
91 |
2e-45 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155083
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174720
|
| SMART Domains |
Protein: ENSMUSP00000133362
Gene: ENSMUSG00000053483
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
12 |
N/A |
INTRINSIC |
|
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
57 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
77 |
162 |
4.6e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192956
|
| SMART Domains |
Protein: ENSMUSP00000141835
Gene: ENSMUSG00000062729
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_binding_8
|
7 |
72 |
1.6e-7 |
PFAM |
|
Pfam:Amino_oxidase
|
12 |
389 |
4.7e-29 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the C19 peptidase family, also known as family 2 of ubiquitin carboxy-terminal hydrolases. The encoded protein cleaves ubiquitin from ubiquitinated proteins for recycling in intracellular protein degradation. The encoded protein is also able to release NEDD8, a ubiquitin-like protein, from NEDD8-conjugated proteins. This gene has been referred to as USP16 and USP23 but is now known as USP21. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a null allele are viable and fertile but develop splenomegaly, show an increased percentage of macrophages and neutrophils in spleen, and are more resistant to vesicular stomatitis virus (VSV) infection with elevated interferon production. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
C |
5: 8,899,537 (GRCm39) |
F936L |
probably benign |
Het |
| Adamts12 |
T |
A |
15: 11,152,143 (GRCm39) |
I211N |
probably benign |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Alas1 |
C |
T |
9: 106,116,845 (GRCm39) |
V293I |
possibly damaging |
Het |
| Ap1g1 |
T |
C |
8: 110,580,244 (GRCm39) |
Y569H |
probably damaging |
Het |
| Apc2 |
A |
G |
10: 80,148,603 (GRCm39) |
D1190G |
probably damaging |
Het |
| Astn2 |
G |
A |
4: 65,664,591 (GRCm39) |
Q679* |
probably null |
Het |
| Atp2a1 |
T |
A |
7: 126,062,081 (GRCm39) |
H5L |
probably damaging |
Het |
| Baiap3 |
T |
C |
17: 25,468,302 (GRCm39) |
K279E |
probably damaging |
Het |
| C2cd2l |
G |
A |
9: 44,227,909 (GRCm39) |
P111S |
probably benign |
Het |
| C7 |
T |
A |
15: 5,032,274 (GRCm39) |
K646* |
probably null |
Het |
| Ccp110 |
C |
T |
7: 118,334,536 (GRCm39) |
T1003I |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 165,012,716 (GRCm39) |
D123G |
probably damaging |
Het |
| Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,768,433 (GRCm39) |
V722A |
probably benign |
Het |
| Cpsf4l |
A |
G |
11: 113,592,901 (GRCm39) |
F174S |
probably benign |
Het |
| Ctnna3 |
T |
C |
10: 63,688,551 (GRCm39) |
C332R |
probably damaging |
Het |
| Cxcl10 |
A |
T |
5: 92,495,714 (GRCm39) |
N76K |
probably damaging |
Het |
| Dnaaf9 |
G |
A |
2: 130,551,858 (GRCm39) |
L1010F |
probably damaging |
Het |
| Dnaja3 |
G |
A |
16: 4,502,029 (GRCm39) |
R11K |
probably null |
Het |
| Efcab10 |
A |
G |
12: 33,445,170 (GRCm39) |
T28A |
possibly damaging |
Het |
| Esrrg |
A |
G |
1: 187,775,850 (GRCm39) |
R103G |
probably damaging |
Het |
| Exosc2 |
A |
G |
2: 31,560,818 (GRCm39) |
K23E |
probably benign |
Het |
| Flot2 |
C |
T |
11: 77,940,373 (GRCm39) |
S40L |
possibly damaging |
Het |
| Fsip2 |
T |
C |
2: 82,822,081 (GRCm39) |
V5938A |
probably benign |
Het |
| Gclc |
A |
G |
9: 77,683,571 (GRCm39) |
T143A |
probably benign |
Het |
| Gpr37 |
A |
G |
6: 25,669,623 (GRCm39) |
V407A |
probably benign |
Het |
| Gucy2e |
A |
T |
11: 69,122,884 (GRCm39) |
M497K |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,357,960 (GRCm39) |
|
probably null |
Het |
| Hnrnpll |
A |
C |
17: 80,341,534 (GRCm39) |
S502A |
probably benign |
Het |
| Ipo11 |
G |
T |
13: 106,932,170 (GRCm39) |
T975N |
probably benign |
Het |
| Kif17 |
C |
T |
4: 137,990,009 (GRCm39) |
Q66* |
probably null |
Het |
| Lrp10 |
T |
C |
14: 54,707,209 (GRCm39) |
V682A |
possibly damaging |
Het |
| Lsmem1 |
A |
T |
12: 40,230,677 (GRCm39) |
L75Q |
probably damaging |
Het |
| Med16 |
A |
T |
10: 79,735,169 (GRCm39) |
Y430N |
probably benign |
Het |
| Med8 |
C |
T |
4: 118,269,931 (GRCm39) |
S72L |
possibly damaging |
Het |
| Mex3a |
A |
G |
3: 88,443,682 (GRCm39) |
T253A |
probably damaging |
Het |
| Myf6 |
T |
C |
10: 107,329,220 (GRCm39) |
K242E |
probably damaging |
Het |
| Ncald |
T |
A |
15: 37,397,587 (GRCm39) |
Y31F |
probably benign |
Het |
| Ndufa12 |
T |
A |
10: 94,035,855 (GRCm39) |
Y48N |
probably damaging |
Het |
| Or12e10 |
T |
C |
2: 87,641,112 (GRCm39) |
V316A |
probably benign |
Het |
| Or51q1c |
T |
A |
7: 103,653,329 (GRCm39) |
Y282* |
probably null |
Het |
| Or5as1 |
T |
G |
2: 86,980,123 (GRCm39) |
N294T |
probably damaging |
Het |
| Pde4dip |
T |
C |
3: 97,610,639 (GRCm39) |
T1858A |
probably benign |
Het |
| Pgbd1 |
A |
G |
13: 21,618,651 (GRCm39) |
L2P |
probably damaging |
Het |
| Piezo1 |
C |
T |
8: 123,214,241 (GRCm39) |
R1642H |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,333,990 (GRCm39) |
M213K |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,965,041 (GRCm39) |
N709S |
probably damaging |
Het |
| Pramel1 |
T |
A |
4: 143,124,999 (GRCm39) |
W308R |
probably damaging |
Het |
| Prkag2 |
A |
T |
5: 25,076,539 (GRCm39) |
I208N |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rngtt |
T |
A |
4: 33,330,864 (GRCm39) |
F156I |
probably damaging |
Het |
| Rpusd3 |
A |
G |
6: 113,392,494 (GRCm39) |
*345Q |
probably null |
Het |
| Rrp1b |
A |
G |
17: 32,276,178 (GRCm39) |
K575R |
probably benign |
Het |
| Shd |
G |
A |
17: 56,281,307 (GRCm39) |
V250I |
probably damaging |
Het |
| Slc12a5 |
C |
A |
2: 164,834,296 (GRCm39) |
N749K |
possibly damaging |
Het |
| Sorbs2 |
T |
A |
8: 46,254,021 (GRCm39) |
V488D |
probably damaging |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Srsf4 |
C |
A |
4: 131,627,871 (GRCm39) |
|
probably benign |
Het |
| Strn |
T |
C |
17: 78,999,831 (GRCm39) |
Y135C |
probably damaging |
Het |
| Synm |
T |
C |
7: 67,409,376 (GRCm39) |
M1V |
probably null |
Het |
| Tas1r3 |
T |
G |
4: 155,946,027 (GRCm39) |
Q489P |
probably benign |
Het |
| Tas2r103 |
A |
T |
6: 133,013,774 (GRCm39) |
N97K |
probably damaging |
Het |
| Tas2r113 |
A |
G |
6: 132,870,755 (GRCm39) |
Y261C |
possibly damaging |
Het |
| Tex21 |
T |
C |
12: 76,268,446 (GRCm39) |
E112G |
probably damaging |
Het |
| Trappc8 |
T |
C |
18: 20,966,055 (GRCm39) |
S1128G |
probably damaging |
Het |
| Ubap1l |
A |
G |
9: 65,279,025 (GRCm39) |
|
probably benign |
Het |
| Ubash3a |
A |
G |
17: 31,434,018 (GRCm39) |
D121G |
probably damaging |
Het |
| Ubxn4 |
A |
G |
1: 128,180,023 (GRCm39) |
I56V |
possibly damaging |
Het |
| Uri1 |
T |
C |
7: 37,662,949 (GRCm39) |
I348M |
probably damaging |
Het |
| Vmn1r159 |
T |
A |
7: 22,542,390 (GRCm39) |
H214L |
probably damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,341,900 (GRCm39) |
E93G |
unknown |
Het |
|
| Other mutations in Usp21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01700:Usp21
|
APN |
1 |
171,110,975 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01726:Usp21
|
APN |
1 |
171,111,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01915:Usp21
|
APN |
1 |
171,110,307 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02504:Usp21
|
APN |
1 |
171,112,596 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02646:Usp21
|
APN |
1 |
171,110,669 (GRCm39) |
unclassified |
probably benign |
|
|
R0513:Usp21
|
UTSW |
1 |
171,110,588 (GRCm39) |
unclassified |
probably benign |
|
|
R0513:Usp21
|
UTSW |
1 |
171,110,586 (GRCm39) |
unclassified |
probably benign |
|
|
R0570:Usp21
|
UTSW |
1 |
171,111,319 (GRCm39) |
unclassified |
probably benign |
|
|
R1582:Usp21
|
UTSW |
1 |
171,110,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4061:Usp21
|
UTSW |
1 |
171,112,974 (GRCm39) |
unclassified |
probably benign |
|
|
R4073:Usp21
|
UTSW |
1 |
171,109,746 (GRCm39) |
unclassified |
probably benign |
|
|
R5914:Usp21
|
UTSW |
1 |
171,109,745 (GRCm39) |
unclassified |
probably benign |
|
|
R6879:Usp21
|
UTSW |
1 |
171,110,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7611:Usp21
|
UTSW |
1 |
171,113,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7857:Usp21
|
UTSW |
1 |
171,114,335 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8356:Usp21
|
UTSW |
1 |
171,112,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8456:Usp21
|
UTSW |
1 |
171,112,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8539:Usp21
|
UTSW |
1 |
171,111,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9514:Usp21
|
UTSW |
1 |
171,112,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9534:Usp21
|
UTSW |
1 |
171,110,942 (GRCm39) |
missense |
probably benign |
0.32 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTGAAGCAATCCCGCAAAG -3'
(R):5'- GCCAGATGCCAAGGATGTAAAATGC -3'
Sequencing Primer
(F):5'- tttttaaatCCAGGCTTTAATTCTGC -3'
(R):5'- CCAAGGATGTAAAATGCTGTGTG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation