Incidental Mutation 'R1549:Usp16'
ID |
169804 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp16
|
Ensembl Gene |
ENSMUSG00000025616 |
Gene Name |
ubiquitin specific peptidase 16 |
Synonyms |
2810483I07Rik, 6330514E22Rik, UBP-M, 1200004E02Rik |
MMRRC Submission |
039588-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1549 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
87251833-87280403 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 87261722 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 113
(V113F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116323
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026710]
[ENSMUST00000119504]
[ENSMUST00000131356]
[ENSMUST00000144759]
|
AlphaFold |
Q99LG0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026710
AA Change: V113F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026710 Gene: ENSMUSG00000025616 AA Change: V113F
Domain | Start | End | E-Value | Type |
Pfam:zf-UBP
|
48 |
127 |
2.5e-23 |
PFAM |
coiled coil region
|
149 |
182 |
N/A |
INTRINSIC |
Pfam:UCH
|
194 |
821 |
2e-54 |
PFAM |
Pfam:UCH_1
|
195 |
800 |
3.8e-15 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119504
AA Change: V113F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114058 Gene: ENSMUSG00000025616 AA Change: V113F
Domain | Start | End | E-Value | Type |
Pfam:zf-UBP
|
48 |
127 |
6.9e-24 |
PFAM |
coiled coil region
|
149 |
181 |
N/A |
INTRINSIC |
Pfam:UCH
|
193 |
732 |
1.2e-36 |
PFAM |
Pfam:UCH_1
|
194 |
737 |
2.5e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131206
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131356
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000144759
AA Change: V113F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116323 Gene: ENSMUSG00000025616 AA Change: V113F
Domain | Start | End | E-Value | Type |
Pfam:zf-UBP
|
48 |
127 |
2e-24 |
PFAM |
coiled coil region
|
149 |
181 |
N/A |
INTRINSIC |
Pfam:UCH
|
193 |
330 |
2.4e-23 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144886
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177538
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 90.8%
|
Validation Efficiency |
97% (58/60) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a deubiquitinating enzyme that is phosphorylated at the onset of mitosis and then dephosphorylated at the metaphase/anaphase transition. It can deubiquitinate H2A, one of two major ubiquitinated proteins of chromatin, in vitro and a mutant form of the protein was shown to block cell division. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E6. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
A |
T |
3: 124,210,441 (GRCm39) |
I157K |
probably benign |
Het |
Ank3 |
A |
T |
10: 69,837,812 (GRCm39) |
N727Y |
probably benign |
Het |
Atg16l1 |
A |
G |
1: 87,701,910 (GRCm39) |
T251A |
probably benign |
Het |
Bcl11b |
T |
A |
12: 107,883,422 (GRCm39) |
I226F |
probably damaging |
Het |
Birc6 |
A |
G |
17: 74,969,737 (GRCm39) |
H4260R |
probably damaging |
Het |
Camta1 |
A |
G |
4: 151,670,920 (GRCm39) |
I85T |
probably damaging |
Het |
Cblb |
A |
G |
16: 51,853,373 (GRCm39) |
|
probably benign |
Het |
Ccnd1 |
T |
G |
7: 144,491,073 (GRCm39) |
I178L |
probably benign |
Het |
Clcn4 |
A |
G |
7: 7,294,681 (GRCm39) |
V329A |
probably damaging |
Het |
Col17a1 |
C |
T |
19: 47,637,349 (GRCm39) |
|
probably benign |
Het |
Col7a1 |
A |
G |
9: 108,785,034 (GRCm39) |
T254A |
unknown |
Het |
Ctif |
C |
A |
18: 75,698,096 (GRCm39) |
R188L |
probably damaging |
Het |
Cyp2c69 |
A |
T |
19: 39,831,430 (GRCm39) |
L461Q |
probably benign |
Het |
Ddc |
A |
G |
11: 11,796,656 (GRCm39) |
|
probably null |
Het |
Dpp10 |
T |
A |
1: 123,269,109 (GRCm39) |
|
probably null |
Het |
Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
Eif2b4 |
T |
C |
5: 31,350,265 (GRCm39) |
E19G |
possibly damaging |
Het |
Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
Galnt14 |
A |
G |
17: 73,832,308 (GRCm39) |
L269P |
possibly damaging |
Het |
Gm2381 |
T |
A |
7: 42,471,825 (GRCm39) |
H18L |
probably benign |
Het |
Gpbp1 |
G |
T |
13: 111,573,113 (GRCm39) |
D326E |
probably benign |
Het |
Gpr162 |
C |
T |
6: 124,837,051 (GRCm39) |
R331H |
probably damaging |
Het |
Iigp1 |
G |
A |
18: 60,522,948 (GRCm39) |
G22D |
probably benign |
Het |
Kcns3 |
T |
C |
12: 11,142,084 (GRCm39) |
H205R |
probably damaging |
Het |
Klk1b26 |
C |
T |
7: 43,665,826 (GRCm39) |
|
probably benign |
Het |
Lime1 |
A |
G |
2: 181,025,169 (GRCm39) |
Y242C |
probably benign |
Het |
Manba |
A |
G |
3: 135,250,567 (GRCm39) |
D398G |
probably damaging |
Het |
Mapk3 |
A |
T |
7: 126,362,684 (GRCm39) |
K219* |
probably null |
Het |
Mdfic |
G |
T |
6: 15,799,844 (GRCm39) |
G324C |
probably damaging |
Het |
Mdga1 |
G |
A |
17: 30,056,972 (GRCm39) |
H837Y |
probably damaging |
Het |
Nck1 |
T |
A |
9: 100,379,925 (GRCm39) |
M109L |
probably benign |
Het |
Or1d2 |
A |
G |
11: 74,256,076 (GRCm39) |
I194V |
probably benign |
Het |
Or2w1b |
T |
C |
13: 21,300,288 (GRCm39) |
V142A |
probably benign |
Het |
Pabpc1l |
G |
T |
2: 163,879,091 (GRCm39) |
V313F |
possibly damaging |
Het |
Phf3 |
C |
T |
1: 30,843,923 (GRCm39) |
V1679I |
probably benign |
Het |
Pou4f1 |
T |
C |
14: 104,705,076 (GRCm39) |
I32V |
probably benign |
Het |
Pspc1 |
T |
G |
14: 56,986,398 (GRCm39) |
H351P |
probably damaging |
Het |
Ptk7 |
T |
C |
17: 46,883,578 (GRCm39) |
E829G |
probably damaging |
Het |
Rab23 |
A |
G |
1: 33,777,378 (GRCm39) |
Y164C |
possibly damaging |
Het |
Slc36a3 |
A |
G |
11: 55,033,596 (GRCm39) |
W141R |
probably damaging |
Het |
Slc7a14 |
T |
C |
3: 31,278,267 (GRCm39) |
E446G |
possibly damaging |
Het |
Stim2 |
G |
A |
5: 54,262,667 (GRCm39) |
R303Q |
probably damaging |
Het |
Tbcd |
A |
G |
11: 121,451,579 (GRCm39) |
I550V |
probably benign |
Het |
Tmed3 |
A |
C |
9: 89,581,998 (GRCm39) |
L155R |
probably damaging |
Het |
Trav16d-dv11 |
A |
G |
14: 53,284,799 (GRCm39) |
|
probably benign |
Het |
Ubap2 |
C |
T |
4: 41,199,872 (GRCm39) |
A752T |
probably benign |
Het |
Vmn2r12 |
T |
G |
5: 109,240,696 (GRCm39) |
Y139S |
probably benign |
Het |
Vmn2r5 |
G |
T |
3: 64,411,421 (GRCm39) |
D382E |
probably damaging |
Het |
Zfp1010 |
T |
C |
2: 176,957,378 (GRCm39) |
E40G |
probably damaging |
Het |
Zfp217 |
A |
C |
2: 169,956,390 (GRCm39) |
N869K |
probably benign |
Het |
Zswim2 |
G |
T |
2: 83,754,092 (GRCm39) |
D189E |
probably benign |
Het |
|
Other mutations in Usp16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01322:Usp16
|
APN |
16 |
87,263,164 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01589:Usp16
|
APN |
16 |
87,276,071 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02570:Usp16
|
APN |
16 |
87,277,781 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02736:Usp16
|
APN |
16 |
87,261,723 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL02973:Usp16
|
APN |
16 |
87,276,627 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03066:Usp16
|
APN |
16 |
87,268,721 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT1430001:Usp16
|
UTSW |
16 |
87,270,020 (GRCm39) |
missense |
probably damaging |
0.99 |
R0395:Usp16
|
UTSW |
16 |
87,272,334 (GRCm39) |
missense |
probably damaging |
1.00 |
R0619:Usp16
|
UTSW |
16 |
87,269,052 (GRCm39) |
missense |
probably benign |
0.02 |
R1146:Usp16
|
UTSW |
16 |
87,271,536 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1146:Usp16
|
UTSW |
16 |
87,271,536 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1557:Usp16
|
UTSW |
16 |
87,259,030 (GRCm39) |
critical splice donor site |
probably null |
|
R1776:Usp16
|
UTSW |
16 |
87,276,204 (GRCm39) |
missense |
probably damaging |
0.97 |
R1818:Usp16
|
UTSW |
16 |
87,276,020 (GRCm39) |
nonsense |
probably null |
|
R1835:Usp16
|
UTSW |
16 |
87,277,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R2022:Usp16
|
UTSW |
16 |
87,270,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R2146:Usp16
|
UTSW |
16 |
87,270,075 (GRCm39) |
critical splice donor site |
probably null |
|
R2432:Usp16
|
UTSW |
16 |
87,263,246 (GRCm39) |
critical splice donor site |
probably null |
|
R3110:Usp16
|
UTSW |
16 |
87,268,736 (GRCm39) |
splice site |
probably null |
|
R3112:Usp16
|
UTSW |
16 |
87,268,736 (GRCm39) |
splice site |
probably null |
|
R3771:Usp16
|
UTSW |
16 |
87,255,571 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R4353:Usp16
|
UTSW |
16 |
87,267,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R4959:Usp16
|
UTSW |
16 |
87,277,802 (GRCm39) |
missense |
probably damaging |
0.99 |
R4973:Usp16
|
UTSW |
16 |
87,277,802 (GRCm39) |
missense |
probably damaging |
0.99 |
R5276:Usp16
|
UTSW |
16 |
87,267,339 (GRCm39) |
critical splice donor site |
probably null |
|
R5753:Usp16
|
UTSW |
16 |
87,279,787 (GRCm39) |
missense |
probably damaging |
0.98 |
R6230:Usp16
|
UTSW |
16 |
87,261,686 (GRCm39) |
missense |
possibly damaging |
0.48 |
R6267:Usp16
|
UTSW |
16 |
87,280,079 (GRCm39) |
missense |
probably benign |
0.00 |
R6473:Usp16
|
UTSW |
16 |
87,280,023 (GRCm39) |
missense |
probably benign |
0.00 |
R6736:Usp16
|
UTSW |
16 |
87,267,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R7006:Usp16
|
UTSW |
16 |
87,268,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R7012:Usp16
|
UTSW |
16 |
87,255,632 (GRCm39) |
critical splice donor site |
probably null |
|
R7040:Usp16
|
UTSW |
16 |
87,277,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R7136:Usp16
|
UTSW |
16 |
87,280,059 (GRCm39) |
missense |
probably benign |
|
R7295:Usp16
|
UTSW |
16 |
87,268,977 (GRCm39) |
missense |
probably benign |
0.44 |
R7434:Usp16
|
UTSW |
16 |
87,276,207 (GRCm39) |
nonsense |
probably null |
|
R7497:Usp16
|
UTSW |
16 |
87,263,174 (GRCm39) |
nonsense |
probably null |
|
R7571:Usp16
|
UTSW |
16 |
87,261,723 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7576:Usp16
|
UTSW |
16 |
87,276,188 (GRCm39) |
missense |
probably benign |
0.34 |
R7624:Usp16
|
UTSW |
16 |
87,273,693 (GRCm39) |
missense |
probably benign |
0.23 |
R7889:Usp16
|
UTSW |
16 |
87,271,472 (GRCm39) |
missense |
probably benign |
0.44 |
R8499:Usp16
|
UTSW |
16 |
87,271,536 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8779:Usp16
|
UTSW |
16 |
87,276,297 (GRCm39) |
missense |
probably benign |
0.00 |
R9182:Usp16
|
UTSW |
16 |
87,276,542 (GRCm39) |
missense |
probably benign |
0.00 |
R9251:Usp16
|
UTSW |
16 |
87,266,640 (GRCm39) |
missense |
probably benign |
0.08 |
R9367:Usp16
|
UTSW |
16 |
87,261,669 (GRCm39) |
missense |
probably benign |
0.01 |
R9707:Usp16
|
UTSW |
16 |
87,263,235 (GRCm39) |
missense |
probably benign |
|
R9746:Usp16
|
UTSW |
16 |
87,276,120 (GRCm39) |
missense |
probably benign |
0.00 |
X0061:Usp16
|
UTSW |
16 |
87,276,345 (GRCm39) |
missense |
probably benign |
0.01 |
X0064:Usp16
|
UTSW |
16 |
87,268,613 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCATGCCCAGATGTGCCACAG -3'
(R):5'- AAGACACAGGAGGTGCTAGTTCCC -3'
Sequencing Primer
(F):5'- AATATGCTCTCTCTAGTAGGTGC -3'
(R):5'- GTGCTAGTTCCCACGCC -3'
|
Posted On |
2014-04-13 |