Incidental Mutation 'R5753:Usp16'
| ID |
444918 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp16
|
| Ensembl Gene |
ENSMUSG00000025616 |
| Gene Name |
ubiquitin specific peptidase 16 |
| Synonyms |
2810483I07Rik, 1200004E02Rik, UBP-M, 6330514E22Rik |
| 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 |
87454703-87483517 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87482899 bp (GRCm38)
|
| 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]
[ENSMUST00000175977]
[ENSMUST00000177376]
|
| 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 |
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: 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176241
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176589
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177275
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177485
|
| 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 |
|
| 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: 87,972,515 (GRCm38) |
T377I |
probably damaging |
Het |
| Abcb1a |
A |
G |
5: 8,723,160 (GRCm38) |
D796G |
probably damaging |
Het |
| Actn3 |
T |
C |
19: 4,864,567 (GRCm38) |
|
probably null |
Het |
| Ada |
A |
T |
2: 163,735,398 (GRCm38) |
S57T |
probably benign |
Het |
| Adamts6 |
A |
G |
13: 104,347,350 (GRCm38) |
Y359C |
probably damaging |
Het |
| Adcy1 |
A |
T |
11: 7,130,300 (GRCm38) |
I348F |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 122,895,304 (GRCm38) |
E603G |
possibly damaging |
Het |
| Bcas3 |
A |
G |
11: 85,822,084 (GRCm38) |
|
probably benign |
Het |
| Cldn1 |
C |
A |
16: 26,363,121 (GRCm38) |
V113L |
probably benign |
Het |
| Dock9 |
T |
C |
14: 121,634,625 (GRCm38) |
T540A |
probably benign |
Het |
| Erp27 |
A |
G |
6: 136,919,877 (GRCm38) |
F109S |
probably damaging |
Het |
| F13a1 |
G |
A |
13: 36,898,108 (GRCm38) |
Q541* |
probably null |
Het |
| Fam124a |
T |
C |
14: 62,606,539 (GRCm38) |
S499P |
probably benign |
Het |
| Fgd3 |
T |
A |
13: 49,274,940 (GRCm38) |
E486V |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,433,489 (GRCm38) |
S11P |
probably benign |
Het |
| Gm12508 |
C |
A |
4: 55,254,787 (GRCm38) |
|
noncoding transcript |
Het |
| Grk2 |
C |
T |
19: 4,290,468 (GRCm38) |
R295H |
probably damaging |
Het |
| Gtf2ird1 |
A |
G |
5: 134,410,983 (GRCm38) |
M131T |
probably damaging |
Het |
| Hist1h4d |
G |
A |
13: 23,581,604 (GRCm38) |
M1I |
probably null |
Het |
| Itpripl2 |
A |
G |
7: 118,491,009 (GRCm38) |
V109A |
probably damaging |
Het |
| Jakmip2 |
T |
C |
18: 43,559,116 (GRCm38) |
E585G |
probably damaging |
Het |
| Kbtbd3 |
A |
T |
9: 4,331,404 (GRCm38) |
I593F |
possibly damaging |
Het |
| Lgr4 |
C |
T |
2: 110,002,512 (GRCm38) |
Q316* |
probably null |
Het |
| Mcf2l |
T |
C |
8: 12,999,993 (GRCm38) |
F305S |
probably damaging |
Het |
| Nos1ap |
T |
A |
1: 170,349,399 (GRCm38) |
K145M |
probably damaging |
Het |
| Olfr1143 |
A |
T |
2: 87,803,252 (GRCm38) |
M288L |
probably benign |
Het |
| Olfr1264 |
T |
C |
2: 90,021,503 (GRCm38) |
T188A |
possibly damaging |
Het |
| Olfr1301 |
T |
A |
2: 111,754,801 (GRCm38) |
I184K |
possibly damaging |
Het |
| Olfr19 |
A |
T |
16: 16,673,620 (GRCm38) |
Y120* |
probably null |
Het |
| Olfr64 |
A |
G |
7: 103,893,201 (GRCm38) |
L178P |
probably damaging |
Het |
| Olfr73 |
G |
A |
2: 88,034,576 (GRCm38) |
L188F |
probably damaging |
Het |
| Olfr735 |
T |
A |
14: 50,345,588 (GRCm38) |
T285S |
probably damaging |
Het |
| Pcdh9 |
T |
A |
14: 93,888,161 (GRCm38) |
D191V |
probably damaging |
Het |
| Pde4d |
T |
A |
13: 109,772,722 (GRCm38) |
|
probably benign |
Het |
| Phkb |
C |
T |
8: 85,878,230 (GRCm38) |
A88V |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,173,420 (GRCm38) |
S4128P |
probably damaging |
Het |
| Plekha5 |
A |
T |
6: 140,537,004 (GRCm38) |
|
probably null |
Het |
| Rgs13 |
A |
C |
1: 144,140,740 (GRCm38) |
N88K |
probably benign |
Het |
| Rho |
T |
A |
6: 115,935,487 (GRCm38) |
I104N |
probably damaging |
Het |
| Rnps1 |
T |
C |
17: 24,418,164 (GRCm38) |
|
probably benign |
Het |
| Slc10a7 |
G |
T |
8: 78,525,299 (GRCm38) |
|
probably null |
Het |
| Slc39a7 |
C |
T |
17: 34,030,176 (GRCm38) |
R246K |
probably damaging |
Het |
| Sort1 |
G |
C |
3: 108,345,774 (GRCm38) |
G510A |
probably damaging |
Het |
| Spag6l |
A |
G |
16: 16,766,967 (GRCm38) |
|
probably null |
Het |
| Sync |
T |
A |
4: 129,293,386 (GRCm38) |
Y70* |
probably null |
Het |
| Tex45 |
A |
T |
8: 3,484,112 (GRCm38) |
I350L |
probably benign |
Het |
| Timm8a2 |
T |
C |
14: 122,034,877 (GRCm38) |
V64A |
probably benign |
Het |
| Tnfrsf11b |
C |
A |
15: 54,254,059 (GRCm38) |
V267L |
possibly damaging |
Het |
| Trim30b |
A |
G |
7: 104,357,337 (GRCm38) |
V104A |
possibly damaging |
Het |
| Tusc3 |
T |
C |
8: 39,096,946 (GRCm38) |
S244P |
probably damaging |
Het |
| Vax1 |
G |
T |
19: 59,166,382 (GRCm38) |
H274Q |
probably benign |
Het |
| Vmn2r108 |
A |
G |
17: 20,462,917 (GRCm38) |
V675A |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,091,804 (GRCm38) |
W298R |
probably damaging |
Het |
| Zfp948 |
A |
G |
17: 21,586,894 (GRCm38) |
N116S |
probably damaging |
Het |
| Zkscan2 |
A |
G |
7: 123,480,700 (GRCm38) |
V678A |
probably benign |
Het |
|
| Other mutations in Usp16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01322:Usp16
|
APN |
16 |
87,466,276 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01589:Usp16
|
APN |
16 |
87,479,183 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02570:Usp16
|
APN |
16 |
87,480,893 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02736:Usp16
|
APN |
16 |
87,464,835 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
IGL02973:Usp16
|
APN |
16 |
87,479,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03066:Usp16
|
APN |
16 |
87,471,833 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT1430001:Usp16
|
UTSW |
16 |
87,473,132 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0395:Usp16
|
UTSW |
16 |
87,475,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0619:Usp16
|
UTSW |
16 |
87,472,164 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1146:Usp16
|
UTSW |
16 |
87,474,648 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1146:Usp16
|
UTSW |
16 |
87,474,648 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1549:Usp16
|
UTSW |
16 |
87,464,834 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1557:Usp16
|
UTSW |
16 |
87,462,142 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1776:Usp16
|
UTSW |
16 |
87,479,316 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1818:Usp16
|
UTSW |
16 |
87,479,132 (GRCm38) |
nonsense |
probably null |
|
|
R1835:Usp16
|
UTSW |
16 |
87,480,907 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2022:Usp16
|
UTSW |
16 |
87,473,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2146:Usp16
|
UTSW |
16 |
87,473,187 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2432:Usp16
|
UTSW |
16 |
87,466,358 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3110:Usp16
|
UTSW |
16 |
87,471,848 (GRCm38) |
splice site |
probably null |
|
|
R3112:Usp16
|
UTSW |
16 |
87,471,848 (GRCm38) |
splice site |
probably null |
|
|
R3771:Usp16
|
UTSW |
16 |
87,458,683 (GRCm38) |
start codon destroyed |
probably null |
1.00 |
|
R4353:Usp16
|
UTSW |
16 |
87,470,354 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4959:Usp16
|
UTSW |
16 |
87,480,914 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4973:Usp16
|
UTSW |
16 |
87,480,914 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5276:Usp16
|
UTSW |
16 |
87,470,451 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6230:Usp16
|
UTSW |
16 |
87,464,798 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R6267:Usp16
|
UTSW |
16 |
87,483,191 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6473:Usp16
|
UTSW |
16 |
87,483,135 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6736:Usp16
|
UTSW |
16 |
87,470,397 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7006:Usp16
|
UTSW |
16 |
87,471,836 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7012:Usp16
|
UTSW |
16 |
87,458,744 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7040:Usp16
|
UTSW |
16 |
87,480,929 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7136:Usp16
|
UTSW |
16 |
87,483,171 (GRCm38) |
missense |
probably benign |
|
|
R7295:Usp16
|
UTSW |
16 |
87,472,089 (GRCm38) |
missense |
probably benign |
0.44 |
|
R7434:Usp16
|
UTSW |
16 |
87,479,319 (GRCm38) |
nonsense |
probably null |
|
|
R7497:Usp16
|
UTSW |
16 |
87,466,286 (GRCm38) |
nonsense |
probably null |
|
|
R7571:Usp16
|
UTSW |
16 |
87,464,835 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R7576:Usp16
|
UTSW |
16 |
87,479,300 (GRCm38) |
missense |
probably benign |
0.34 |
|
R7624:Usp16
|
UTSW |
16 |
87,476,805 (GRCm38) |
missense |
probably benign |
0.23 |
|
R7889:Usp16
|
UTSW |
16 |
87,474,584 (GRCm38) |
missense |
probably benign |
0.44 |
|
R8499:Usp16
|
UTSW |
16 |
87,474,648 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8779:Usp16
|
UTSW |
16 |
87,479,409 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9182:Usp16
|
UTSW |
16 |
87,479,654 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9251:Usp16
|
UTSW |
16 |
87,469,752 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9367:Usp16
|
UTSW |
16 |
87,464,781 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9707:Usp16
|
UTSW |
16 |
87,466,347 (GRCm38) |
missense |
probably benign |
|
|
R9746:Usp16
|
UTSW |
16 |
87,479,232 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0061:Usp16
|
UTSW |
16 |
87,479,457 (GRCm38) |
missense |
probably benign |
0.01 |
|
X0064:Usp16
|
UTSW |
16 |
87,471,725 (GRCm38) |
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