Incidental Mutation 'R7136:Usp16'
| ID |
553102 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp16
|
| Ensembl Gene |
ENSMUSG00000025616 |
| Gene Name |
ubiquitin specific peptidase 16 |
| Synonyms |
2810483I07Rik, 6330514E22Rik, UBP-M, 1200004E02Rik |
| MMRRC Submission |
045220-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7136 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
87251833-87280403 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 87280059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 753
(C753F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114058
(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 |
silent
Transcript: ENSMUST00000026710
|
| SMART Domains |
Protein: ENSMUSP00000026710
Gene: ENSMUSG00000025616
| 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: C753F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114058
Gene: ENSMUSG00000025616
AA Change: C753F
| 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: 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 |
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: 99.1%
|
| Validation Efficiency |
100% (68/68) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
A |
G |
5: 138,560,610 (GRCm39) |
S262P |
probably damaging |
Het |
| Abcc2 |
A |
G |
19: 43,825,899 (GRCm39) |
E1512G |
probably damaging |
Het |
| Abcg2 |
T |
G |
6: 58,661,325 (GRCm39) |
Y459D |
possibly damaging |
Het |
| Amy1 |
T |
C |
3: 113,357,248 (GRCm39) |
Y197C |
probably damaging |
Het |
| Bptf |
A |
G |
11: 106,990,541 (GRCm39) |
I516T |
probably damaging |
Het |
| Capn12 |
T |
A |
7: 28,582,532 (GRCm39) |
|
probably null |
Het |
| Cbln2 |
T |
A |
18: 86,734,797 (GRCm39) |
L190Q |
probably damaging |
Het |
| Ccdc157 |
C |
T |
11: 4,098,592 (GRCm39) |
E305K |
possibly damaging |
Het |
| Ccdc47 |
A |
G |
11: 106,095,830 (GRCm39) |
S289P |
probably benign |
Het |
| Chd3 |
C |
T |
11: 69,239,264 (GRCm39) |
E1756K |
probably null |
Het |
| Chrd |
G |
T |
16: 20,553,272 (GRCm39) |
A183S |
possibly damaging |
Het |
| Cp |
C |
T |
3: 20,039,822 (GRCm39) |
R880* |
probably null |
Het |
| Cyp24a1 |
A |
T |
2: 170,336,063 (GRCm39) |
D191E |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,020,613 (GRCm39) |
Y1252C |
probably damaging |
Het |
| Eps8l1 |
A |
G |
7: 4,480,403 (GRCm39) |
D487G |
probably damaging |
Het |
| Fam227b |
T |
G |
2: 125,965,948 (GRCm39) |
Q159P |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 16,289,481 (GRCm39) |
I14T |
probably benign |
Het |
| Fbxl19 |
C |
A |
7: 127,349,217 (GRCm39) |
T129N |
possibly damaging |
Het |
| Fuca2 |
T |
C |
10: 13,381,665 (GRCm39) |
F193L |
probably benign |
Het |
| H2-Q1 |
T |
C |
17: 35,539,603 (GRCm39) |
|
probably null |
Het |
| Hgh1 |
A |
G |
15: 76,254,631 (GRCm39) |
M336V |
probably benign |
Het |
| Il12b |
T |
C |
11: 44,298,857 (GRCm39) |
L104P |
probably benign |
Het |
| Kcnh2 |
A |
T |
5: 24,537,989 (GRCm39) |
F125I |
probably benign |
Het |
| Kcnk7 |
A |
G |
19: 5,756,104 (GRCm39) |
H110R |
probably benign |
Het |
| Kdm3a |
G |
A |
6: 71,588,764 (GRCm39) |
P415L |
probably benign |
Het |
| Kifc3 |
T |
C |
8: 95,830,077 (GRCm39) |
T610A |
probably benign |
Het |
| Krbox5 |
A |
G |
13: 67,991,111 (GRCm39) |
|
probably null |
Het |
| Lmbr1l |
C |
A |
15: 98,809,372 (GRCm39) |
|
probably null |
Het |
| Lmo7 |
T |
A |
14: 102,157,975 (GRCm39) |
M1436K |
unknown |
Het |
| Lrp1 |
C |
T |
10: 127,394,491 (GRCm39) |
C2574Y |
probably damaging |
Het |
| Med13l |
A |
G |
5: 118,859,587 (GRCm39) |
E258G |
possibly damaging |
Het |
| Mesp1 |
T |
C |
7: 79,442,906 (GRCm39) |
I124V |
probably damaging |
Het |
| Mrgpra2a |
A |
T |
7: 47,076,934 (GRCm39) |
I108N |
probably benign |
Het |
| Nos1 |
G |
T |
5: 118,033,925 (GRCm39) |
R349L |
possibly damaging |
Het |
| Or5k3 |
C |
T |
16: 58,969,327 (GRCm39) |
T38I |
probably damaging |
Het |
| Or7c70 |
T |
C |
10: 78,683,615 (GRCm39) |
I45V |
probably benign |
Het |
| Osgin1 |
T |
A |
8: 120,168,176 (GRCm39) |
M1K |
probably null |
Het |
| Pde4dip |
C |
T |
3: 97,601,379 (GRCm39) |
S2346N |
probably benign |
Het |
| Pde7a |
T |
C |
3: 19,285,258 (GRCm39) |
M310V |
probably benign |
Het |
| Pigw |
G |
A |
11: 84,768,585 (GRCm39) |
T248M |
probably damaging |
Het |
| Pink1 |
T |
C |
4: 138,044,769 (GRCm39) |
T323A |
probably damaging |
Het |
| Polr3a |
C |
T |
14: 24,511,883 (GRCm39) |
R891Q |
probably damaging |
Het |
| Prkar1b |
C |
A |
5: 139,094,363 (GRCm39) |
C75F |
probably benign |
Het |
| Prss58 |
C |
T |
6: 40,876,987 (GRCm39) |
|
probably null |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Pttg1ip2 |
A |
T |
5: 5,516,631 (GRCm39) |
D63E |
possibly damaging |
Het |
| Qars1 |
T |
C |
9: 108,389,971 (GRCm39) |
I350T |
probably damaging |
Het |
| Qprt |
T |
C |
7: 126,707,984 (GRCm39) |
K149R |
probably damaging |
Het |
| Rasgrf1 |
T |
A |
9: 89,873,651 (GRCm39) |
D653E |
probably damaging |
Het |
| Rbm26 |
T |
C |
14: 105,381,703 (GRCm39) |
M481V |
possibly damaging |
Het |
| Rdx |
C |
T |
9: 51,997,745 (GRCm39) |
T573M |
probably damaging |
Het |
| Rgs14 |
A |
G |
13: 55,527,508 (GRCm39) |
|
probably null |
Het |
| Robo2 |
T |
C |
16: 73,753,438 (GRCm39) |
E813G |
probably damaging |
Het |
| Rrbp1 |
A |
T |
2: 143,791,600 (GRCm39) |
F1369I |
probably benign |
Het |
| Sh2d4b |
T |
A |
14: 40,562,209 (GRCm39) |
T319S |
probably benign |
Het |
| Slc7a15 |
G |
T |
12: 8,588,895 (GRCm39) |
N217K |
probably damaging |
Het |
| Stmn1 |
A |
G |
4: 134,198,088 (GRCm39) |
K42E |
probably damaging |
Het |
| Tbl2 |
T |
G |
5: 135,178,682 (GRCm39) |
W31G |
probably benign |
Het |
| Tmem8b |
T |
C |
4: 43,669,845 (GRCm39) |
C114R |
possibly damaging |
Het |
| Tsc2 |
T |
C |
17: 24,832,254 (GRCm39) |
S711G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,666,904 (GRCm39) |
R11531G |
unknown |
Het |
| Ube2e3 |
T |
C |
2: 78,744,085 (GRCm39) |
Y105H |
probably benign |
Het |
| Vmn1r13 |
T |
C |
6: 57,187,239 (GRCm39) |
S133P |
possibly damaging |
Het |
| Vmn2r76 |
T |
A |
7: 85,877,975 (GRCm39) |
Q474L |
probably benign |
Het |
| Vps52 |
T |
C |
17: 34,184,262 (GRCm39) |
I601T |
probably benign |
Het |
| Wasf1 |
A |
T |
10: 40,802,587 (GRCm39) |
T81S |
possibly damaging |
Het |
| Wdr82 |
A |
G |
9: 106,048,532 (GRCm39) |
S39G |
probably benign |
Het |
| Zdhhc13 |
A |
G |
7: 48,451,080 (GRCm39) |
I108V |
probably benign |
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 |
|
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 |
|
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'- ACGGTGACATTCCACAAGG -3'
(R):5'- CAGTATGCTAATACAAAACCGCTG -3'
Sequencing Primer
(F):5'- AGGTAAGCTATCTTGGATACTCCGC -3'
(R):5'- ACCGCTGTAAATTATTTTGCCTG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation