Incidental Mutation 'R7624:Usp16'
ID |
589353 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp16
|
Ensembl Gene |
ENSMUSG00000025616 |
Gene Name |
ubiquitin specific peptidase 16 |
Synonyms |
2810483I07Rik, 6330514E22Rik, UBP-M, 1200004E02Rik |
MMRRC Submission |
045689-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7624 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
87251833-87280403 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 87273693 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 423
(M423K)
|
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: M423K
PolyPhen 2
Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000026710 Gene: ENSMUSG00000025616 AA Change: M423K
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: M422K
PolyPhen 2
Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000114058 Gene: ENSMUSG00000025616 AA Change: M422K
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
99% (69/70) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atm |
C |
A |
9: 53,366,068 (GRCm39) |
R2533L |
probably damaging |
Het |
Caprin1 |
T |
A |
2: 103,603,022 (GRCm39) |
M514L |
possibly damaging |
Het |
Ccdc78 |
A |
G |
17: 26,006,126 (GRCm39) |
E98G |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,226,865 (GRCm39) |
M2741K |
possibly damaging |
Het |
Cnot1 |
T |
G |
8: 96,478,447 (GRCm39) |
R959S |
probably damaging |
Het |
Col12a1 |
G |
T |
9: 79,553,076 (GRCm39) |
|
probably null |
Het |
Col4a3 |
A |
G |
1: 82,696,605 (GRCm39) |
T177A |
probably benign |
Het |
Cpa3 |
T |
C |
3: 20,279,307 (GRCm39) |
N211D |
possibly damaging |
Het |
Cripto |
C |
T |
9: 110,775,017 (GRCm39) |
|
probably benign |
Het |
Cryba1 |
T |
C |
11: 77,613,543 (GRCm39) |
Y36C |
probably damaging |
Het |
Ctnna1 |
T |
A |
18: 35,377,897 (GRCm39) |
I632N |
probably benign |
Het |
D630045J12Rik |
T |
C |
6: 38,126,498 (GRCm39) |
N1504S |
probably damaging |
Het |
Dgkz |
C |
A |
2: 91,773,019 (GRCm39) |
R346L |
probably damaging |
Het |
Dnajc21 |
G |
A |
15: 10,461,318 (GRCm39) |
R211C |
probably benign |
Het |
Dnajc21 |
A |
T |
15: 10,461,320 (GRCm39) |
I210N |
probably damaging |
Het |
Dscam |
T |
C |
16: 96,411,524 (GRCm39) |
D1784G |
probably damaging |
Het |
Eya3 |
A |
G |
4: 132,400,262 (GRCm39) |
T94A |
probably benign |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,871,165 (GRCm39) |
D3742G |
possibly damaging |
Het |
Ficd |
T |
C |
5: 113,876,751 (GRCm39) |
F309L |
probably benign |
Het |
Gfra1 |
A |
T |
19: 58,226,878 (GRCm39) |
M451K |
probably benign |
Het |
Gm43517 |
T |
A |
12: 49,437,961 (GRCm39) |
L318Q |
|
Het |
Gsc |
A |
T |
12: 104,439,310 (GRCm39) |
V22E |
possibly damaging |
Het |
Il4ra |
T |
C |
7: 125,168,280 (GRCm39) |
Y100H |
probably damaging |
Het |
Ilf3 |
T |
C |
9: 21,309,340 (GRCm39) |
S486P |
probably benign |
Het |
Itga10 |
T |
A |
3: 96,560,269 (GRCm39) |
H594Q |
probably benign |
Het |
Kcnf1 |
T |
C |
12: 17,226,137 (GRCm39) |
D28G |
probably benign |
Het |
Kiss1 |
A |
G |
1: 133,257,160 (GRCm39) |
K53R |
possibly damaging |
Het |
Lcn5 |
A |
G |
2: 25,551,426 (GRCm39) |
I182V |
probably benign |
Het |
Lcorl |
T |
C |
5: 45,859,307 (GRCm39) |
D269G |
probably benign |
Het |
Letm2 |
A |
T |
8: 26,082,553 (GRCm39) |
C174* |
probably null |
Het |
Met |
T |
G |
6: 17,558,834 (GRCm39) |
V1154G |
probably damaging |
Het |
Mindy3 |
A |
G |
2: 12,424,000 (GRCm39) |
S22P |
probably benign |
Het |
Mroh2b |
G |
A |
15: 4,946,613 (GRCm39) |
R471Q |
probably damaging |
Het |
Nfe2l3 |
T |
C |
6: 51,435,252 (GRCm39) |
L604P |
probably damaging |
Het |
Or12e10 |
A |
G |
2: 87,640,683 (GRCm39) |
Q173R |
probably damaging |
Het |
Or14a256 |
A |
G |
7: 86,265,769 (GRCm39) |
F28S |
possibly damaging |
Het |
Or5h18 |
T |
A |
16: 58,847,382 (GRCm39) |
Q296L |
possibly damaging |
Het |
Or8b3b |
C |
T |
9: 38,583,919 (GRCm39) |
V274I |
probably benign |
Het |
Or8u9 |
A |
T |
2: 86,001,564 (GRCm39) |
I199N |
possibly damaging |
Het |
Or9r7 |
A |
C |
10: 129,962,455 (GRCm39) |
I157S |
probably damaging |
Het |
Pcdha9 |
T |
A |
18: 37,132,849 (GRCm39) |
Y639* |
probably null |
Het |
Pom121l2 |
A |
T |
13: 22,167,699 (GRCm39) |
I657L |
probably damaging |
Het |
Prr14l |
T |
A |
5: 32,986,967 (GRCm39) |
T843S |
possibly damaging |
Het |
Rln1 |
A |
T |
19: 29,309,499 (GRCm39) |
N93K |
probably damaging |
Het |
Rpl3l |
A |
T |
17: 24,951,401 (GRCm39) |
M101L |
probably benign |
Het |
Rtkn |
A |
G |
6: 83,129,158 (GRCm39) |
Y551C |
probably benign |
Het |
Rundc1 |
G |
C |
11: 101,324,305 (GRCm39) |
R337P |
possibly damaging |
Het |
Scarf1 |
T |
A |
11: 75,405,242 (GRCm39) |
|
probably null |
Het |
Serpinb1b |
T |
A |
13: 33,275,622 (GRCm39) |
|
probably null |
Het |
Sgsm1 |
A |
T |
5: 113,422,201 (GRCm39) |
C484* |
probably null |
Het |
Slc22a19 |
T |
A |
19: 7,650,668 (GRCm39) |
K547* |
probably null |
Het |
Slc22a19 |
T |
C |
19: 7,671,183 (GRCm39) |
T177A |
probably benign |
Het |
Slc6a5 |
A |
C |
7: 49,591,614 (GRCm39) |
K526N |
probably benign |
Het |
Sqle |
G |
A |
15: 59,202,603 (GRCm39) |
R519Q |
probably benign |
Het |
Stard9 |
T |
C |
2: 120,518,627 (GRCm39) |
I517T |
probably benign |
Het |
Taf15 |
A |
T |
11: 83,395,849 (GRCm39) |
D518V |
unknown |
Het |
Tenm4 |
A |
G |
7: 96,545,192 (GRCm39) |
M2440V |
possibly damaging |
Het |
Tm6sf1 |
A |
G |
7: 81,518,458 (GRCm39) |
M122V |
possibly damaging |
Het |
Tmprss9 |
T |
A |
10: 80,728,053 (GRCm39) |
S548T |
possibly damaging |
Het |
Trim62 |
A |
T |
4: 128,777,471 (GRCm39) |
|
probably benign |
Het |
Ugt2b34 |
C |
T |
5: 87,039,141 (GRCm39) |
V507M |
possibly damaging |
Het |
Vmn1r199 |
T |
A |
13: 22,566,906 (GRCm39) |
S67T |
probably benign |
Het |
Vmn1r62 |
A |
T |
7: 5,678,600 (GRCm39) |
M94L |
probably benign |
Het |
Wnk4 |
G |
T |
11: 101,155,180 (GRCm39) |
E364* |
probably null |
Het |
Xpo1 |
T |
A |
11: 23,232,584 (GRCm39) |
I368N |
probably damaging |
Het |
Zfp366 |
A |
G |
13: 99,382,804 (GRCm39) |
T656A |
probably benign |
Het |
Zfp934 |
T |
C |
13: 62,666,338 (GRCm39) |
M113V |
probably benign |
Het |
Zkscan2 |
A |
G |
7: 123,097,994 (GRCm39) |
V134A |
probably 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 |
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 |
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'- CATATTTCCTCACCCTGTGATGA -3'
(R):5'- CACCACTCTGCATGCTAATAAAAGT -3'
Sequencing Primer
(F):5'- TGCCTCCTGAGAATTGACG -3'
(R):5'- GAAGCTCCTGAGTTCGAATTCCAG -3'
|
Posted On |
2019-10-24 |