Incidental Mutation 'R5753:Usp16'
| ID |
444918 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp16
|
| Ensembl Gene |
ENSMUSG00000025616 |
| Gene Name |
ubiquitin specific peptidase 16 |
| Synonyms |
2810483I07Rik, 6330514E22Rik, UBP-M, 1200004E02Rik |
| MMRRC Submission |
043358-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5753 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
87251833-87280403 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87279787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 746
(Y746N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026704]
[ENSMUST00000026710]
[ENSMUST00000119504]
[ENSMUST00000144759]
[ENSMUST00000177376]
[ENSMUST00000175977]
|
| AlphaFold |
Q99LG0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026704
|
| SMART Domains |
Protein: ENSMUSP00000026704
Gene: ENSMUSG00000025613
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
39 |
529 |
6.7e-156 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026710
AA Change: Y746N
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000026710
Gene: ENSMUSG00000025616
AA Change: Y746N
| 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
|
| 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: ENSMUST00000135399
|
| 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: ENSMUST00000146386
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149656
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177275
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177485
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176241
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176589
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175750
|
| SMART Domains |
Protein: ENSMUSP00000134920
Gene: ENSMUSG00000025613
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
1 |
238 |
1.2e-69 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177376
|
| SMART Domains |
Protein: ENSMUSP00000135498
Gene: ENSMUSG00000025613
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4B2T|Q
|
1 |
51 |
1e-29 |
PDB |
|
SCOP:d1oela1
|
26 |
51 |
8e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175977
|
| SMART Domains |
Protein: ENSMUSP00000135651
Gene: ENSMUSG00000025613
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
39 |
132 |
4.5e-32 |
PFAM |
|
Pfam:Cpn60_TCP1
|
120 |
470 |
1.9e-94 |
PFAM |
|
| Meta Mutation Damage Score |
0.9018 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
C |
T |
5: 88,120,374 (GRCm39) |
T377I |
probably damaging |
Het |
| Abcb1a |
A |
G |
5: 8,773,160 (GRCm39) |
D796G |
probably damaging |
Het |
| Actn3 |
T |
C |
19: 4,914,595 (GRCm39) |
|
probably null |
Het |
| Ada |
A |
T |
2: 163,577,318 (GRCm39) |
S57T |
probably benign |
Het |
| Adamts6 |
A |
G |
13: 104,483,858 (GRCm39) |
Y359C |
probably damaging |
Het |
| Adcy1 |
A |
T |
11: 7,080,300 (GRCm39) |
I348F |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,622,043 (GRCm39) |
E603G |
possibly damaging |
Het |
| Bcas3 |
A |
G |
11: 85,712,910 (GRCm39) |
|
probably benign |
Het |
| Cldn1 |
C |
A |
16: 26,181,871 (GRCm39) |
V113L |
probably benign |
Het |
| Dock9 |
T |
C |
14: 121,872,037 (GRCm39) |
T540A |
probably benign |
Het |
| Erp27 |
A |
G |
6: 136,896,875 (GRCm39) |
F109S |
probably damaging |
Het |
| F13a1 |
G |
A |
13: 37,082,082 (GRCm39) |
Q541* |
probably null |
Het |
| Fam124a |
T |
C |
14: 62,843,988 (GRCm39) |
S499P |
probably benign |
Het |
| Fgd3 |
T |
A |
13: 49,428,416 (GRCm39) |
E486V |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,433,488 (GRCm39) |
S11P |
probably benign |
Het |
| Gm12508 |
C |
A |
4: 55,254,787 (GRCm39) |
|
noncoding transcript |
Het |
| Grk2 |
C |
T |
19: 4,340,496 (GRCm39) |
R295H |
probably damaging |
Het |
| Gtf2ird1 |
A |
G |
5: 134,439,837 (GRCm39) |
M131T |
probably damaging |
Het |
| H4c4 |
G |
A |
13: 23,765,587 (GRCm39) |
M1I |
probably null |
Het |
| Itpripl2 |
A |
G |
7: 118,090,232 (GRCm39) |
V109A |
probably damaging |
Het |
| Jakmip2 |
T |
C |
18: 43,692,181 (GRCm39) |
E585G |
probably damaging |
Het |
| Kbtbd3 |
A |
T |
9: 4,331,404 (GRCm39) |
I593F |
possibly damaging |
Het |
| Lgr4 |
C |
T |
2: 109,832,857 (GRCm39) |
Q316* |
probably null |
Het |
| Mcf2l |
T |
C |
8: 13,049,993 (GRCm39) |
F305S |
probably damaging |
Het |
| Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
| Or4c3 |
T |
C |
2: 89,851,847 (GRCm39) |
T188A |
possibly damaging |
Het |
| Or4k51 |
T |
A |
2: 111,585,146 (GRCm39) |
I184K |
possibly damaging |
Het |
| Or4q3 |
T |
A |
14: 50,583,045 (GRCm39) |
T285S |
probably damaging |
Het |
| Or51b17 |
A |
G |
7: 103,542,408 (GRCm39) |
L178P |
probably damaging |
Het |
| Or5d18 |
G |
A |
2: 87,864,920 (GRCm39) |
L188F |
probably damaging |
Het |
| Or5w18 |
A |
T |
2: 87,633,596 (GRCm39) |
M288L |
probably benign |
Het |
| Or7a40 |
A |
T |
16: 16,491,484 (GRCm39) |
Y120* |
probably null |
Het |
| Pcdh9 |
T |
A |
14: 94,125,597 (GRCm39) |
D191V |
probably damaging |
Het |
| Pde4d |
T |
A |
13: 109,909,256 (GRCm39) |
|
probably benign |
Het |
| Phkb |
C |
T |
8: 86,604,859 (GRCm39) |
A88V |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,057,620 (GRCm39) |
S4128P |
probably damaging |
Het |
| Plekha5 |
A |
T |
6: 140,482,730 (GRCm39) |
|
probably null |
Het |
| Rgs13 |
A |
C |
1: 144,016,478 (GRCm39) |
N88K |
probably benign |
Het |
| Rho |
T |
A |
6: 115,912,448 (GRCm39) |
I104N |
probably damaging |
Het |
| Rnps1 |
T |
C |
17: 24,637,138 (GRCm39) |
|
probably benign |
Het |
| Saxo5 |
A |
T |
8: 3,534,112 (GRCm39) |
I350L |
probably benign |
Het |
| Slc10a7 |
G |
T |
8: 79,251,928 (GRCm39) |
|
probably null |
Het |
| Slc39a7 |
C |
T |
17: 34,249,150 (GRCm39) |
R246K |
probably damaging |
Het |
| Sort1 |
G |
C |
3: 108,253,090 (GRCm39) |
G510A |
probably damaging |
Het |
| Spag6l |
A |
G |
16: 16,584,831 (GRCm39) |
|
probably null |
Het |
| Sync |
T |
A |
4: 129,187,179 (GRCm39) |
Y70* |
probably null |
Het |
| Timm8a2 |
T |
C |
14: 122,272,289 (GRCm39) |
V64A |
probably benign |
Het |
| Tnfrsf11b |
C |
A |
15: 54,117,455 (GRCm39) |
V267L |
possibly damaging |
Het |
| Trim30b |
A |
G |
7: 104,006,544 (GRCm39) |
V104A |
possibly damaging |
Het |
| Tusc3 |
T |
C |
8: 39,564,100 (GRCm39) |
S244P |
probably damaging |
Het |
| Vax1 |
G |
T |
19: 59,154,814 (GRCm39) |
H274Q |
probably benign |
Het |
| Vmn2r108 |
A |
G |
17: 20,683,179 (GRCm39) |
V675A |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,239,670 (GRCm39) |
W298R |
probably damaging |
Het |
| Zfp948 |
A |
G |
17: 21,807,156 (GRCm39) |
N116S |
probably damaging |
Het |
| Zkscan2 |
A |
G |
7: 123,079,923 (GRCm39) |
V678A |
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 |
|
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 |
|
|
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'- GAATTTTCTTGAGGCCTTTAACTGG -3'
(R):5'- GTGAAACCACTGCCCTTTGG -3'
Sequencing Primer
(F):5'- GGTTCATGACCTAGTTTTTGCAC -3'
(R):5'- GATTCCATTTCACAATCTGTCAGG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation