Incidental Mutation 'R1557:Usp16'
| ID |
170378 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp16
|
| Ensembl Gene |
ENSMUSG00000025616 |
| Gene Name |
ubiquitin specific peptidase 16 |
| Synonyms |
2810483I07Rik, 6330514E22Rik, UBP-M, 1200004E02Rik |
| MMRRC Submission |
039596-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1557 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
87251833-87280403 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 87259030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026710]
[ENSMUST00000119504]
[ENSMUST00000131356]
[ENSMUST00000144759]
|
| AlphaFold |
Q99LG0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026710
|
| SMART Domains |
Protein: ENSMUSP00000026710
Gene: ENSMUSG00000025616
| 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 null
Transcript: ENSMUST00000119504
|
| SMART Domains |
Protein: ENSMUSP00000114058
Gene: ENSMUSG00000025616
| 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 benign
Transcript: ENSMUST00000144759
|
| SMART Domains |
Protein: ENSMUSP00000116323
Gene: ENSMUSG00000025616
| 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 |
0.9501 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.1%
|
| Validation Efficiency |
96% (75/78) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
A |
C |
1: 53,221,025 (GRCm39) |
D68E |
possibly damaging |
Het |
| Abca3 |
T |
C |
17: 24,618,954 (GRCm39) |
V870A |
possibly damaging |
Het |
| Aldh3a2 |
A |
T |
11: 61,139,885 (GRCm39) |
F416I |
probably damaging |
Het |
| Armc6 |
A |
T |
8: 70,678,098 (GRCm39) |
L77Q |
possibly damaging |
Het |
| Asb17 |
A |
G |
3: 153,556,570 (GRCm39) |
I226V |
probably benign |
Het |
| Aspm |
A |
G |
1: 139,396,406 (GRCm39) |
I862V |
probably benign |
Het |
| Atr |
T |
A |
9: 95,753,502 (GRCm39) |
D701E |
probably damaging |
Het |
| Baz1b |
C |
T |
5: 135,247,097 (GRCm39) |
L849F |
possibly damaging |
Het |
| Cbr1 |
T |
C |
16: 93,405,677 (GRCm39) |
V97A |
probably benign |
Het |
| Cep295 |
G |
A |
9: 15,243,306 (GRCm39) |
Q1669* |
probably null |
Het |
| Cfap54 |
T |
C |
10: 92,820,089 (GRCm39) |
T1242A |
possibly damaging |
Het |
| Chrm3 |
T |
A |
13: 9,928,350 (GRCm39) |
T229S |
possibly damaging |
Het |
| Cimip4 |
C |
A |
15: 78,270,474 (GRCm39) |
R98M |
probably damaging |
Het |
| Cnga3 |
A |
G |
1: 37,300,066 (GRCm39) |
Y300C |
probably damaging |
Het |
| Col14a1 |
A |
C |
15: 55,251,975 (GRCm39) |
I544L |
unknown |
Het |
| Crocc |
T |
C |
4: 140,752,776 (GRCm39) |
E1208G |
probably damaging |
Het |
| Cyp2j8 |
A |
T |
4: 96,358,713 (GRCm39) |
|
probably benign |
Het |
| Dcbld2 |
T |
C |
16: 58,285,713 (GRCm39) |
I624T |
possibly damaging |
Het |
| Ddah1 |
A |
C |
3: 145,597,227 (GRCm39) |
I258L |
probably benign |
Het |
| Dnah6 |
G |
A |
6: 73,026,114 (GRCm39) |
Q3460* |
probably null |
Het |
| Dync2h1 |
T |
A |
9: 7,140,911 (GRCm39) |
D1372V |
probably damaging |
Het |
| Egln1 |
G |
A |
8: 125,674,980 (GRCm39) |
R272* |
probably null |
Het |
| Elf1 |
A |
G |
14: 79,804,620 (GRCm39) |
D95G |
possibly damaging |
Het |
| Fkbp5 |
A |
G |
17: 28,621,729 (GRCm39) |
F374L |
probably damaging |
Het |
| Fli1 |
T |
C |
9: 32,372,540 (GRCm39) |
|
probably benign |
Het |
| Gabbr2 |
T |
C |
4: 46,846,436 (GRCm39) |
T158A |
probably damaging |
Het |
| Gp2 |
A |
C |
7: 119,049,302 (GRCm39) |
Y412D |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,610,283 (GRCm39) |
V1462A |
possibly damaging |
Het |
| Ide |
T |
C |
19: 37,258,160 (GRCm39) |
|
probably null |
Het |
| Kalrn |
T |
C |
16: 34,134,648 (GRCm39) |
K372R |
possibly damaging |
Het |
| Kcnj16 |
A |
G |
11: 110,916,067 (GRCm39) |
D243G |
possibly damaging |
Het |
| Kif7 |
A |
G |
7: 79,363,905 (GRCm39) |
M1T |
probably null |
Het |
| Klri2 |
A |
T |
6: 129,709,174 (GRCm39) |
L226Q |
probably damaging |
Het |
| Kremen1 |
T |
C |
11: 5,165,373 (GRCm39) |
|
probably null |
Het |
| Lama3 |
T |
C |
18: 12,646,788 (GRCm39) |
|
probably benign |
Het |
| Lmln |
C |
A |
16: 32,908,581 (GRCm39) |
R336S |
probably benign |
Het |
| Lrch4 |
T |
A |
5: 137,635,818 (GRCm39) |
D266E |
probably benign |
Het |
| Lrrc28 |
C |
T |
7: 67,209,677 (GRCm39) |
R174H |
probably damaging |
Het |
| Mib1 |
T |
A |
18: 10,798,474 (GRCm39) |
D778E |
probably damaging |
Het |
| Msra |
T |
C |
14: 64,360,775 (GRCm39) |
I125V |
possibly damaging |
Het |
| Or10c1 |
A |
G |
17: 37,522,244 (GRCm39) |
F167L |
probably damaging |
Het |
| Or4k37 |
T |
A |
2: 111,158,964 (GRCm39) |
S67T |
probably damaging |
Het |
| Or4p19 |
A |
T |
2: 88,242,555 (GRCm39) |
V149E |
possibly damaging |
Het |
| Or52e18 |
A |
G |
7: 104,609,747 (GRCm39) |
F64S |
probably damaging |
Het |
| Or6c75 |
C |
A |
10: 129,337,491 (GRCm39) |
T246N |
probably damaging |
Het |
| Or8d23 |
A |
G |
9: 38,841,955 (GRCm39) |
M163V |
possibly damaging |
Het |
| Pes1 |
T |
A |
11: 3,926,824 (GRCm39) |
Y369N |
probably damaging |
Het |
| Pgam2 |
T |
C |
11: 5,751,773 (GRCm39) |
D221G |
possibly damaging |
Het |
| Prl2c5 |
T |
C |
13: 13,365,265 (GRCm39) |
V137A |
possibly damaging |
Het |
| Rasal1 |
T |
A |
5: 120,814,914 (GRCm39) |
D721E |
possibly damaging |
Het |
| Sass6 |
G |
T |
3: 116,412,381 (GRCm39) |
E385D |
possibly damaging |
Het |
| Sema5a |
A |
G |
15: 32,460,418 (GRCm39) |
R60G |
probably benign |
Het |
| Sesn1 |
T |
C |
10: 41,779,762 (GRCm39) |
S399P |
probably damaging |
Het |
| Skic2 |
G |
A |
17: 35,067,398 (GRCm39) |
L47F |
probably damaging |
Het |
| Slc10a2 |
C |
T |
8: 5,141,755 (GRCm39) |
V210M |
probably damaging |
Het |
| Slc8a3 |
C |
T |
12: 81,362,331 (GRCm39) |
G163S |
probably damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,212,234 (GRCm39) |
|
probably benign |
Het |
| Speer4f1 |
T |
C |
5: 17,684,490 (GRCm39) |
W173R |
probably damaging |
Het |
| Spon2 |
C |
A |
5: 33,374,108 (GRCm39) |
G92W |
probably damaging |
Het |
| Sycp2 |
A |
T |
2: 178,037,009 (GRCm39) |
|
probably benign |
Het |
| Tfb1m |
A |
G |
17: 3,605,241 (GRCm39) |
V84A |
probably damaging |
Het |
| Tmem18 |
G |
T |
12: 30,637,198 (GRCm39) |
|
probably null |
Het |
| Tom1l1 |
A |
G |
11: 90,547,210 (GRCm39) |
L290S |
possibly damaging |
Het |
| Tube1 |
T |
G |
10: 39,021,711 (GRCm39) |
|
probably null |
Het |
| Ugt2b35 |
T |
A |
5: 87,155,156 (GRCm39) |
|
probably null |
Het |
| Unc93b1 |
T |
A |
19: 3,992,403 (GRCm39) |
Y269N |
probably benign |
Het |
| Vmn1r38 |
A |
T |
6: 66,753,370 (GRCm39) |
S249T |
probably benign |
Het |
| Vmn1r42 |
T |
A |
6: 89,821,733 (GRCm39) |
M279L |
possibly damaging |
Het |
| Zdhhc23 |
T |
A |
16: 43,791,829 (GRCm39) |
T315S |
possibly damaging |
Het |
| Zfp472 |
T |
C |
17: 33,194,900 (GRCm39) |
F12L |
probably benign |
Het |
| Zfr2 |
T |
C |
10: 81,083,225 (GRCm39) |
S634P |
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 |
|
R1549:Usp16
|
UTSW |
16 |
87,261,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TCAATAGAACCAGTGTGCAGACACC -3'
(R):5'- CAACCATACCAGGAGGCTGATGAC -3'
Sequencing Primer
(F):5'- CAGTGTGCAGACACCTTAGAAAAG -3'
(R):5'- gtagcaacccaagccacc -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation