Incidental Mutation 'R0619:Usp16'
ID |
58561 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp16
|
Ensembl Gene |
ENSMUSG00000025616 |
Gene Name |
ubiquitin specific peptidase 16 |
Synonyms |
2810483I07Rik, 6330514E22Rik, UBP-M, 1200004E02Rik |
MMRRC Submission |
038808-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0619 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
87251833-87280403 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 87269052 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 315
(H315L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026710
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026710]
[ENSMUST00000119504]
[ENSMUST00000144759]
|
AlphaFold |
Q99LG0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026710
AA Change: H315L
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000026710 Gene: ENSMUSG00000025616 AA Change: H315L
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 benign
Transcript: ENSMUST00000119504
AA Change: H314L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000114058 Gene: ENSMUSG00000025616 AA Change: H314L
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 |
noncoding transcript
Transcript: ENSMUST00000135399
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144759
AA Change: H314L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000116323 Gene: ENSMUSG00000025616 AA Change: H314L
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: ENSMUST00000146386
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
Validation Efficiency |
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adad2 |
G |
A |
8: 120,339,739 (GRCm39) |
D74N |
probably benign |
Het |
Adgre4 |
T |
A |
17: 56,127,679 (GRCm39) |
V573D |
possibly damaging |
Het |
Ak7 |
A |
G |
12: 105,699,770 (GRCm39) |
K230E |
probably damaging |
Het |
Amdhd2 |
T |
C |
17: 24,375,562 (GRCm39) |
D375G |
possibly damaging |
Het |
Anpep |
T |
C |
7: 79,490,757 (GRCm39) |
E253G |
probably benign |
Het |
Bbs7 |
A |
G |
3: 36,661,725 (GRCm39) |
L158S |
probably benign |
Het |
Bdp1 |
T |
C |
13: 100,174,366 (GRCm39) |
T2057A |
probably benign |
Het |
C2 |
G |
T |
17: 35,091,479 (GRCm39) |
H61Q |
probably damaging |
Het |
Ccdc18 |
A |
G |
5: 108,328,282 (GRCm39) |
K661E |
probably benign |
Het |
Cdh23 |
C |
T |
10: 60,269,556 (GRCm39) |
V655I |
probably damaging |
Het |
Cep78 |
T |
C |
19: 15,956,226 (GRCm39) |
T238A |
probably damaging |
Het |
Ces2a |
T |
A |
8: 105,462,742 (GRCm39) |
N110K |
probably benign |
Het |
Crat |
T |
C |
2: 30,299,996 (GRCm39) |
D128G |
probably benign |
Het |
Dclre1a |
A |
T |
19: 56,533,841 (GRCm39) |
M233K |
probably benign |
Het |
Dsg4 |
T |
C |
18: 20,594,416 (GRCm39) |
V515A |
probably benign |
Het |
Fer1l6 |
T |
C |
15: 58,534,784 (GRCm39) |
|
probably null |
Het |
Fryl |
T |
C |
5: 73,226,074 (GRCm39) |
D1863G |
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,774,484 (GRCm39) |
L57Q |
probably damaging |
Het |
Gnb4 |
C |
T |
3: 32,645,356 (GRCm39) |
V112I |
probably benign |
Het |
Iqsec1 |
T |
C |
6: 90,647,388 (GRCm39) |
|
probably null |
Het |
Kcnn3 |
A |
C |
3: 89,559,337 (GRCm39) |
T536P |
probably damaging |
Het |
Kctd3 |
T |
C |
1: 188,710,840 (GRCm39) |
D441G |
probably damaging |
Het |
Kifc3 |
G |
A |
8: 95,829,293 (GRCm39) |
T528M |
probably benign |
Het |
Kmt2c |
G |
A |
5: 25,503,914 (GRCm39) |
T3798I |
probably benign |
Het |
Map1a |
T |
A |
2: 121,135,736 (GRCm39) |
M1946K |
probably damaging |
Het |
Mfhas1 |
T |
A |
8: 36,057,829 (GRCm39) |
V768E |
probably benign |
Het |
Mroh8 |
C |
A |
2: 157,107,001 (GRCm39) |
V223F |
possibly damaging |
Het |
Mss51 |
A |
T |
14: 20,537,641 (GRCm39) |
V30E |
probably benign |
Het |
Mtmr10 |
G |
A |
7: 63,970,961 (GRCm39) |
R392H |
probably benign |
Het |
Mup3 |
T |
C |
4: 62,004,198 (GRCm39) |
N105S |
probably benign |
Het |
Myh7b |
T |
C |
2: 155,453,642 (GRCm39) |
M22T |
probably benign |
Het |
Or1o2 |
T |
A |
17: 37,543,046 (GRCm39) |
I72F |
possibly damaging |
Het |
Or2aj5 |
T |
A |
16: 19,425,022 (GRCm39) |
Y132F |
probably damaging |
Het |
Or5m9 |
T |
A |
2: 85,877,655 (GRCm39) |
Y276* |
probably null |
Het |
Os9 |
A |
G |
10: 126,956,860 (GRCm39) |
I43T |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,347,234 (GRCm39) |
L200P |
probably damaging |
Het |
Ptpru |
C |
T |
4: 131,548,198 (GRCm39) |
V100M |
possibly damaging |
Het |
Rnf6 |
G |
A |
5: 146,147,531 (GRCm39) |
R496C |
possibly damaging |
Het |
Rsad1 |
C |
T |
11: 94,433,465 (GRCm39) |
R407Q |
probably damaging |
Het |
Rspo3 |
T |
C |
10: 29,380,633 (GRCm39) |
D127G |
probably damaging |
Het |
Sbf2 |
T |
A |
7: 109,909,469 (GRCm39) |
T1760S |
possibly damaging |
Het |
Sh2d3c |
T |
A |
2: 32,643,037 (GRCm39) |
V588E |
probably damaging |
Het |
Siglech |
A |
T |
7: 55,418,910 (GRCm39) |
T238S |
probably benign |
Het |
Slc15a2 |
T |
A |
16: 36,579,669 (GRCm39) |
N328I |
probably damaging |
Het |
Slc16a11 |
G |
T |
11: 70,105,858 (GRCm39) |
G94C |
probably damaging |
Het |
Stub1 |
T |
C |
17: 26,050,296 (GRCm39) |
|
probably null |
Het |
Tacc2 |
T |
A |
7: 130,318,483 (GRCm39) |
V40D |
probably damaging |
Het |
Tagln3 |
C |
A |
16: 45,544,635 (GRCm39) |
R12L |
probably damaging |
Het |
Trappc14 |
A |
G |
5: 138,262,088 (GRCm39) |
|
probably benign |
Het |
Tsen54 |
A |
G |
11: 115,705,890 (GRCm39) |
E69G |
probably damaging |
Het |
Tsks |
A |
G |
7: 44,600,258 (GRCm39) |
E150G |
probably damaging |
Het |
Ubap2l |
A |
C |
3: 89,924,527 (GRCm39) |
V680G |
probably benign |
Het |
Vav2 |
A |
G |
2: 27,186,133 (GRCm39) |
|
probably null |
Het |
Zfc3h1 |
T |
C |
10: 115,256,715 (GRCm39) |
F1562L |
possibly damaging |
Het |
Zfp764 |
C |
A |
7: 127,005,713 (GRCm39) |
V22L |
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 |
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 |
R1549:Usp16
|
UTSW |
16 |
87,261,722 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- ACCAACTGCACCAGCATGGTTC -3'
(R):5'- TCCTGCTCACTTGTCCCAAATGAAG -3'
Sequencing Primer
(F):5'- TAGGCTCTTCGTACAGCAGAC -3'
(R):5'- TGTCCCAAATGAAGAAGCACATTG -3'
|
Posted On |
2013-07-11 |