Incidental Mutation 'R7576:Usp16'
| ID |
586449 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp16
|
| Ensembl Gene |
ENSMUSG00000025616 |
| Gene Name |
ubiquitin specific peptidase 16 |
| Synonyms |
2810483I07Rik, 1200004E02Rik, UBP-M, 6330514E22Rik |
| MMRRC Submission |
045661-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7576 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
87454703-87483517 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87479300 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 509
(S509P)
|
| 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 benign
Transcript: ENSMUST00000026710
AA Change: S509P
PolyPhen 2
Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000026710
Gene: ENSMUSG00000025616
AA Change: S509P
| 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 |
possibly damaging
Transcript: ENSMUST00000119504
AA Change: S508P
PolyPhen 2
Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000114058
Gene: ENSMUSG00000025616
AA Change: S508P
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
A |
T |
4: 133,065,002 (GRCm38) |
S1185C |
possibly damaging |
Het |
| Akap9 |
C |
G |
5: 3,968,745 (GRCm38) |
H1109D |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,306,816 (GRCm38) |
D502G |
possibly damaging |
Het |
| Bcl2 |
A |
G |
1: 106,712,423 (GRCm38) |
V153A |
possibly damaging |
Het |
| Brinp3 |
A |
T |
1: 146,901,563 (GRCm38) |
S583C |
probably damaging |
Het |
| Calr4 |
A |
T |
4: 109,238,964 (GRCm38) |
Q113L |
probably benign |
Het |
| Carm1 |
T |
G |
9: 21,586,536 (GRCm38) |
|
probably null |
Het |
| Ccdc30 |
A |
G |
4: 119,349,866 (GRCm38) |
L353P |
probably damaging |
Het |
| Ccdc91 |
C |
G |
6: 147,590,459 (GRCm38) |
Q280E |
unknown |
Het |
| Cdk5rap2 |
T |
C |
4: 70,266,872 (GRCm38) |
T1114A |
probably benign |
Het |
| Ciao3 |
A |
C |
17: 25,778,970 (GRCm38) |
T154P |
probably damaging |
Het |
| Dync2i2 |
C |
T |
2: 30,048,778 (GRCm38) |
R31Q |
probably benign |
Het |
| Enpep |
T |
A |
3: 129,284,091 (GRCm38) |
T626S |
probably benign |
Het |
| Epcam |
T |
C |
17: 87,640,293 (GRCm38) |
S64P |
probably damaging |
Het |
| Erc1 |
G |
T |
6: 119,824,760 (GRCm38) |
P99T |
possibly damaging |
Het |
| Fastkd1 |
A |
G |
2: 69,694,644 (GRCm38) |
L636S |
probably damaging |
Het |
| Fmn1 |
A |
G |
2: 113,365,008 (GRCm38) |
D351G |
unknown |
Het |
| Fndc8 |
T |
G |
11: 82,897,574 (GRCm38) |
S77A |
probably damaging |
Het |
| Gbp10 |
G |
A |
5: 105,236,149 (GRCm38) |
|
probably benign |
Het |
| Gemin6 |
T |
A |
17: 80,225,726 (GRCm38) |
Y29* |
probably null |
Het |
| Gja8 |
T |
C |
3: 96,919,893 (GRCm38) |
E151G |
probably benign |
Het |
| Gje1 |
A |
G |
10: 14,716,757 (GRCm38) |
Y94H |
probably damaging |
Het |
| Glt6d1 |
A |
G |
2: 25,814,122 (GRCm38) |
F26S |
probably benign |
Het |
| Gltpd2 |
T |
A |
11: 70,519,480 (GRCm38) |
|
probably null |
Het |
| Gm10153 |
A |
C |
7: 142,190,122 (GRCm38) |
C70G |
unknown |
Het |
| Gm28729 |
G |
A |
9: 96,494,357 (GRCm38) |
T368M |
probably damaging |
Het |
| Gm4559 |
A |
G |
7: 142,273,940 (GRCm38) |
C142R |
unknown |
Het |
| Golm1 |
T |
C |
13: 59,645,106 (GRCm38) |
N195S |
probably benign |
Het |
| Hectd4 |
A |
T |
5: 121,349,459 (GRCm38) |
S3506C |
possibly damaging |
Het |
| Hnrnpll |
G |
A |
17: 80,044,514 (GRCm38) |
S334L |
possibly damaging |
Het |
| Ighv7-3 |
A |
T |
12: 114,153,245 (GRCm38) |
I99N |
possibly damaging |
Het |
| Igkv8-24 |
A |
G |
6: 70,217,018 (GRCm38) |
S69P |
not run |
Het |
| Ilvbl |
A |
T |
10: 78,583,697 (GRCm38) |
H537L |
possibly damaging |
Het |
| Lama1 |
G |
A |
17: 67,782,041 (GRCm38) |
G1569D |
|
Het |
| Lin7b |
A |
T |
7: 45,369,225 (GRCm38) |
Y118* |
probably null |
Het |
| Mansc1 |
T |
A |
6: 134,610,711 (GRCm38) |
S168C |
possibly damaging |
Het |
| Mast3 |
A |
G |
8: 70,781,194 (GRCm38) |
V969A |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,754,500 (GRCm38) |
T1458I |
probably benign |
Het |
| Myh10 |
A |
G |
11: 68,802,166 (GRCm38) |
E1429G |
probably damaging |
Het |
| Neurod1 |
G |
T |
2: 79,454,345 (GRCm38) |
Y231* |
probably null |
Het |
| Nrxn2 |
G |
T |
19: 6,531,510 (GRCm38) |
E1492* |
probably null |
Het |
| Nwd2 |
A |
G |
5: 63,807,393 (GRCm38) |
Q1440R |
probably benign |
Het |
| Or10j3b |
A |
G |
1: 173,215,971 (GRCm38) |
T107A |
probably benign |
Het |
| Or6z7 |
T |
A |
7: 6,480,331 (GRCm38) |
N275I |
probably damaging |
Het |
| Or8u3-ps |
A |
G |
2: 86,122,376 (GRCm38) |
Y151C |
probably damaging |
Het |
| Pacs1 |
T |
A |
19: 5,145,120 (GRCm38) |
T479S |
probably benign |
Het |
| Pds5b |
A |
G |
5: 150,778,261 (GRCm38) |
K786E |
probably damaging |
Het |
| Pigp |
A |
G |
16: 94,370,405 (GRCm38) |
L9P |
probably benign |
Het |
| Plec |
C |
T |
15: 76,187,746 (GRCm38) |
R707Q |
unknown |
Het |
| Ppef2 |
T |
A |
5: 92,253,134 (GRCm38) |
H9L |
possibly damaging |
Het |
| Ppid |
T |
A |
3: 79,600,391 (GRCm38) |
C296S |
probably damaging |
Het |
| Ppp2r5b |
T |
G |
19: 6,228,484 (GRCm38) |
E465A |
possibly damaging |
Het |
| Ppp4r4 |
A |
G |
12: 103,596,449 (GRCm38) |
N559S |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,607,305 (GRCm38) |
T873A |
possibly damaging |
Het |
| Rbpms |
A |
G |
8: 33,866,388 (GRCm38) |
V28A |
probably damaging |
Het |
| Retreg2 |
A |
G |
1: 75,144,688 (GRCm38) |
M203V |
probably damaging |
Het |
| Rfx4 |
A |
G |
10: 84,863,349 (GRCm38) |
E367G |
probably damaging |
Het |
| Robo1 |
C |
T |
16: 72,970,181 (GRCm38) |
P414S |
probably damaging |
Het |
| Sac3d1 |
T |
A |
19: 6,116,148 (GRCm38) |
E410D |
probably damaging |
Het |
| Scgb2b19 |
A |
T |
7: 33,279,786 (GRCm38) |
C24S |
possibly damaging |
Het |
| She |
T |
C |
3: 89,831,612 (GRCm38) |
F37L |
probably damaging |
Het |
| Slc5a2 |
G |
A |
7: 128,265,805 (GRCm38) |
V37I |
probably damaging |
Het |
| Smyd4 |
T |
A |
11: 75,390,206 (GRCm38) |
D168E |
probably benign |
Het |
| Ssc5d |
C |
A |
7: 4,928,573 (GRCm38) |
P260T |
probably damaging |
Het |
| Steap2 |
A |
G |
5: 5,677,406 (GRCm38) |
F310L |
probably benign |
Het |
| Tctn1 |
A |
T |
5: 122,248,008 (GRCm38) |
I347N |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,370,621 (GRCm38) |
L271P |
probably damaging |
Het |
| Tns3 |
T |
A |
11: 8,541,192 (GRCm38) |
M122L |
possibly damaging |
Het |
| Ubr7 |
T |
G |
12: 102,769,139 (GRCm38) |
C286G |
probably damaging |
Het |
| Usp44 |
A |
G |
10: 93,846,428 (GRCm38) |
T247A |
probably damaging |
Het |
| Vmn2r92 |
A |
C |
17: 18,167,359 (GRCm38) |
M209L |
probably benign |
Het |
| Zc3h6 |
C |
T |
2: 129,014,553 (GRCm38) |
P518S |
probably damaging |
Het |
| Zfp229 |
A |
G |
17: 21,745,299 (GRCm38) |
H170R |
probably damaging |
Het |
| Zfp960 |
A |
G |
17: 17,087,965 (GRCm38) |
T314A |
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 |
|
|
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 |
|
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'- CTCTTTACTAAGAACCAACGAAGGC -3'
(R):5'- TCAGGATCAACAGCAGCATTC -3'
Sequencing Primer
(F):5'- CACTGACTACACGGAAGA -3'
(R):5'- TGATAATGTCTAGTTCTCCACTGG -3'
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| Posted On |
2019-10-24 |
Incidental Mutation