Incidental Mutation 'R7434:Usp16'
| ID |
576646 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp16
|
| Ensembl Gene |
ENSMUSG00000025616 |
| Gene Name |
ubiquitin specific peptidase 16 |
| Synonyms |
2810483I07Rik, 6330514E22Rik, UBP-M, 1200004E02Rik |
| MMRRC Submission |
045511-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7434 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
87251833-87280403 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 87276207 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 515
(L515*)
|
| 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 null
Transcript: ENSMUST00000026710
AA Change: L515*
|
| SMART Domains |
Protein: ENSMUSP00000026710
Gene: ENSMUSG00000025616
AA Change: L515*
| 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
AA Change: L514*
|
| SMART Domains |
Protein: ENSMUSP00000114058
Gene: ENSMUSG00000025616
AA Change: L514*
| 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
|
| 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 |
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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (43/43) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
T |
C |
4: 86,344,115 (GRCm39) |
V1731A |
probably damaging |
Het |
| Bcat2 |
A |
G |
7: 45,225,429 (GRCm39) |
|
probably null |
Het |
| Bcl6 |
T |
G |
16: 23,788,798 (GRCm39) |
E523D |
possibly damaging |
Het |
| Cdcp3 |
C |
T |
7: 130,881,212 (GRCm39) |
S1828F |
unknown |
Het |
| Col4a2 |
T |
A |
8: 11,471,250 (GRCm39) |
N503K |
probably damaging |
Het |
| Cyb5r1 |
G |
A |
1: 134,335,576 (GRCm39) |
C166Y |
probably benign |
Het |
| Cyp2w1 |
T |
C |
5: 139,342,775 (GRCm39) |
V490A |
possibly damaging |
Het |
| Erich6b |
A |
G |
14: 75,901,024 (GRCm39) |
I113V |
probably benign |
Het |
| Fabp12 |
C |
T |
3: 10,312,738 (GRCm39) |
V95I |
probably benign |
Het |
| Gask1b |
T |
A |
3: 79,848,669 (GRCm39) |
F472I |
probably damaging |
Het |
| Gpr3 |
T |
C |
4: 132,938,448 (GRCm39) |
M75V |
probably benign |
Het |
| Grm5 |
T |
G |
7: 87,779,682 (GRCm39) |
S1073A |
probably benign |
Het |
| Hoxc9 |
A |
G |
15: 102,892,414 (GRCm39) |
K209R |
probably damaging |
Het |
| Irgm2 |
T |
G |
11: 58,110,291 (GRCm39) |
V6G |
probably benign |
Het |
| Jakmip2 |
A |
G |
18: 43,690,444 (GRCm39) |
V627A |
possibly damaging |
Het |
| Kansl1l |
C |
G |
1: 66,801,262 (GRCm39) |
S568T |
probably damaging |
Het |
| Lims1 |
A |
G |
10: 58,230,301 (GRCm39) |
T21A |
probably benign |
Het |
| Lpar2 |
G |
T |
8: 70,279,165 (GRCm39) |
A320S |
probably benign |
Het |
| Lpcat4 |
A |
G |
2: 112,073,400 (GRCm39) |
N235S |
probably damaging |
Het |
| Ly6g2 |
T |
C |
15: 75,088,567 (GRCm39) |
F12L |
probably benign |
Het |
| Meis1 |
A |
T |
11: 18,835,542 (GRCm39) |
S359T |
unknown |
Het |
| Mtor |
C |
T |
4: 148,549,416 (GRCm39) |
T600I |
probably benign |
Het |
| Ncbp1 |
T |
C |
4: 46,149,910 (GRCm39) |
S144P |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,274,025 (GRCm39) |
E205G |
probably damaging |
Het |
| Nid1 |
T |
C |
13: 13,643,049 (GRCm39) |
I329T |
probably benign |
Het |
| Nos3 |
T |
C |
5: 24,587,633 (GRCm39) |
I1031T |
probably damaging |
Het |
| Nyap1 |
A |
G |
5: 137,734,530 (GRCm39) |
S168P |
probably damaging |
Het |
| Or56a4 |
A |
G |
7: 104,806,106 (GRCm39) |
V261A |
probably damaging |
Het |
| Pam |
T |
A |
1: 97,903,515 (GRCm39) |
K73* |
probably null |
Het |
| Pcdhga11 |
T |
C |
18: 37,891,005 (GRCm39) |
V671A |
probably benign |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Ric1 |
A |
G |
19: 29,552,180 (GRCm39) |
D317G |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,103,389 (GRCm39) |
E1957G |
probably benign |
Het |
| Srcap |
T |
C |
7: 127,159,414 (GRCm39) |
S3097P |
unknown |
Het |
| Tas2r113 |
C |
T |
6: 132,870,272 (GRCm39) |
T100I |
probably benign |
Het |
| Tnni1 |
A |
G |
1: 135,735,260 (GRCm39) |
D57G |
|
Het |
| Trim29 |
G |
A |
9: 43,246,428 (GRCm39) |
V575I |
probably damaging |
Het |
| Trpv3 |
G |
A |
11: 73,179,087 (GRCm39) |
V499M |
probably damaging |
Het |
| Ubr1 |
C |
T |
2: 120,693,161 (GRCm39) |
M1748I |
probably benign |
Het |
| Upk1a |
A |
T |
7: 30,306,617 (GRCm39) |
M99K |
probably damaging |
Het |
| Vmn1r103 |
T |
C |
7: 20,244,435 (GRCm39) |
K9E |
probably damaging |
Het |
| Vwde |
A |
G |
6: 13,187,639 (GRCm39) |
V616A |
probably benign |
Het |
| Zfp101 |
A |
T |
17: 33,600,564 (GRCm39) |
S397R |
possibly damaging |
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 |
|
|
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 |
|
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'- CTCTTTACTAAGAACCAACGAAGGC -3'
(R):5'- ATCAGGATCAACAGCAGCATTC -3'
Sequencing Primer
(F):5'- CACTGACTACACGGAAGA -3'
(R):5'- TGATAATGTCTAGTTCTCCACTGG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation