Incidental Mutation 'R9251:Usp16'
| ID |
701569 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp16
|
| Ensembl Gene |
ENSMUSG00000025616 |
| Gene Name |
ubiquitin specific peptidase 16 |
| Synonyms |
2810483I07Rik, 1200004E02Rik, UBP-M, 6330514E22Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9251 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
87454703-87483517 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87469752 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 175
(K175E)
|
| 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: K175E
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000026710
Gene: ENSMUSG00000025616
AA Change: K175E
| 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: K174E
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000114058
Gene: ENSMUSG00000025616
AA Change: K174E
| 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 |
probably benign
Transcript: ENSMUST00000144759
AA Change: K174E
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000116323
Gene: ENSMUSG00000025616
AA Change: K174E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (59/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap31 |
G |
T |
16: 38,602,856 (GRCm38) |
N949K |
probably benign |
Het |
| Arv1 |
T |
A |
8: 124,725,323 (GRCm38) |
I76N |
probably damaging |
Het |
| Cfap44 |
G |
A |
16: 44,408,913 (GRCm38) |
A189T |
probably damaging |
Het |
| Ch25h |
T |
C |
19: 34,474,369 (GRCm38) |
Y253C |
probably damaging |
Het |
| Cnot11 |
T |
C |
1: 39,542,506 (GRCm38) |
M376T |
probably damaging |
Het |
| Cnot7 |
T |
C |
8: 40,511,581 (GRCm38) |
|
probably benign |
Het |
| Dnah17 |
G |
A |
11: 118,121,792 (GRCm38) |
S481F |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,515,793 (GRCm38) |
R541Q |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,582,512 (GRCm38) |
M1151I |
probably damaging |
Het |
| Dpf2 |
T |
C |
19: 5,907,138 (GRCm38) |
D19G |
probably damaging |
Het |
| Eefsec |
A |
T |
6: 88,355,592 (GRCm38) |
M212K |
probably damaging |
Het |
| Elp6 |
G |
A |
9: 110,305,598 (GRCm38) |
V12I |
unknown |
Het |
| Enox1 |
G |
A |
14: 77,615,557 (GRCm38) |
|
probably null |
Het |
| Epha1 |
G |
T |
6: 42,364,843 (GRCm38) |
N424K |
probably damaging |
Het |
| Fam171a1 |
T |
C |
2: 3,225,488 (GRCm38) |
S553P |
probably benign |
Het |
| Fbxw21 |
A |
G |
9: 109,145,619 (GRCm38) |
S278P |
probably damaging |
Het |
| Gm45861 |
T |
C |
8: 27,542,561 (GRCm38) |
|
probably null |
Het |
| Gm4846 |
T |
A |
1: 166,483,738 (GRCm38) |
R517S |
probably benign |
Het |
| Gnrhr |
A |
G |
5: 86,197,362 (GRCm38) |
L155P |
possibly damaging |
Het |
| Igfn1 |
C |
T |
1: 135,966,671 (GRCm38) |
|
probably benign |
Het |
| Ik |
T |
A |
18: 36,747,442 (GRCm38) |
|
probably null |
Het |
| Insrr |
A |
T |
3: 87,810,084 (GRCm38) |
Q763L |
probably benign |
Het |
| Klf5 |
G |
T |
14: 99,301,388 (GRCm38) |
C79F |
possibly damaging |
Het |
| Lrrcc1 |
A |
T |
3: 14,558,394 (GRCm38) |
R760S |
probably damaging |
Het |
| Map3k7 |
T |
A |
4: 32,002,080 (GRCm38) |
|
probably benign |
Het |
| Mapkbp1 |
C |
T |
2: 120,023,190 (GRCm38) |
A1159V |
probably benign |
Het |
| Mgst3 |
C |
T |
1: 167,378,291 (GRCm38) |
|
probably null |
Het |
| Mtch2 |
T |
A |
2: 90,849,636 (GRCm38) |
F71I |
probably damaging |
Het |
| Myo1e |
A |
G |
9: 70,368,794 (GRCm38) |
I764V |
probably benign |
Het |
| Myo3b |
T |
A |
2: 70,258,081 (GRCm38) |
L896* |
probably null |
Het |
| Ndufs5 |
T |
G |
4: 123,712,835 (GRCm38) |
E103A |
probably benign |
Het |
| Nfe2l1 |
G |
A |
11: 96,819,595 (GRCm38) |
P603S |
probably damaging |
Het |
| Olfr801 |
T |
A |
10: 129,670,111 (GRCm38) |
N136I |
possibly damaging |
Het |
| Olfr954 |
A |
T |
9: 39,462,372 (GRCm38) |
M311L |
probably benign |
Het |
| Piezo1 |
T |
C |
8: 122,492,615 (GRCm38) |
N1093S |
|
Het |
| Pitpnb |
G |
A |
5: 111,385,524 (GRCm38) |
R258H |
probably benign |
Het |
| Pla2g4d |
T |
C |
2: 120,268,897 (GRCm38) |
E708G |
possibly damaging |
Het |
| Plppr4 |
T |
A |
3: 117,321,959 (GRCm38) |
T750S |
probably benign |
Het |
| Prrg4 |
T |
G |
2: 104,845,054 (GRCm38) |
E68A |
probably damaging |
Het |
| Rcan2 |
C |
T |
17: 44,017,810 (GRCm38) |
T90M |
possibly damaging |
Het |
| Rlbp1 |
T |
C |
7: 79,377,345 (GRCm38) |
E189G |
probably damaging |
Het |
| Satb1 |
A |
G |
17: 51,805,265 (GRCm38) |
F107S |
probably damaging |
Het |
| Sdc3 |
A |
T |
4: 130,821,202 (GRCm38) |
|
probably benign |
Het |
| Slc22a3 |
A |
T |
17: 12,507,206 (GRCm38) |
V40D |
probably damaging |
Het |
| Slc35d1 |
A |
G |
4: 103,190,830 (GRCm38) |
|
probably null |
Het |
| Slfn1 |
T |
C |
11: 83,121,295 (GRCm38) |
F79S |
probably damaging |
Het |
| Snrpg |
G |
T |
6: 86,376,575 (GRCm38) |
V46L |
probably benign |
Het |
| Tbl1xr1 |
G |
A |
3: 22,210,405 (GRCm38) |
C508Y |
probably benign |
Het |
| Thada |
A |
T |
17: 84,231,136 (GRCm38) |
D1481E |
probably benign |
Het |
| Tnfsf8 |
A |
G |
4: 63,860,980 (GRCm38) |
V27A |
probably benign |
Het |
| Tns1 |
T |
C |
1: 73,991,696 (GRCm38) |
H300R |
probably damaging |
Het |
| Ttc13 |
C |
A |
8: 124,675,253 (GRCm38) |
G589V |
probably benign |
Het |
| Ttc28 |
A |
G |
5: 110,892,832 (GRCm38) |
I29V |
possibly damaging |
Het |
| Tubb4a |
T |
A |
17: 57,080,778 (GRCm38) |
N416I |
possibly damaging |
Het |
| Ubr4 |
T |
A |
4: 139,450,325 (GRCm38) |
I1884N |
|
Het |
| Usp24 |
A |
G |
4: 106,360,518 (GRCm38) |
I479M |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,636,787 (GRCm38) |
T2313A |
probably benign |
Het |
| Ythdc2 |
T |
C |
18: 44,841,375 (GRCm38) |
V368A |
probably benign |
Het |
| Zfp628 |
T |
C |
7: 4,920,881 (GRCm38) |
S701P |
probably damaging |
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 |
|
|
R5753:Usp16
|
UTSW |
16 |
87,482,899 (GRCm38) |
missense |
probably damaging |
0.98 |
|
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 |
|
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'- AGCTTACCACTACTTATTGTCAGTC -3'
(R):5'- TGAATACACAGAATTCACACAGGG -3'
Sequencing Primer
(F):5'- GTCAGTCAAATTGATGCCAATAATCG -3'
(R):5'- TTCACACAGGGAAGATAAAAATCAAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation