Incidental Mutation 'R6267:Usp16'
| ID |
507115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp16
|
| Ensembl Gene |
ENSMUSG00000025616 |
| Gene Name |
ubiquitin specific peptidase 16 |
| Synonyms |
2810483I07Rik, 6330514E22Rik, UBP-M, 1200004E02Rik |
| MMRRC Submission |
044405-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6267 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
87251833-87280403 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87280079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 813
(N813S)
|
| 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: N813S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000026710
Gene: ENSMUSG00000025616
AA Change: N813S
| 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
|
| SMART Domains |
Protein: ENSMUSP00000114058
Gene: ENSMUSG00000025616
| 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 |
noncoding transcript
Transcript: ENSMUST00000135399
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000146386
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149656
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177485
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177275
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176241
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176589
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.4%
|
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
C |
11: 72,086,580 (GRCm39) |
K277R |
probably damaging |
Het |
| Aatf |
T |
C |
11: 84,363,926 (GRCm39) |
Y267C |
probably benign |
Het |
| Abi3bp |
A |
G |
16: 56,414,860 (GRCm39) |
T341A |
probably damaging |
Het |
| Acer2 |
T |
C |
4: 86,792,823 (GRCm39) |
F33S |
probably damaging |
Het |
| Actr1b |
A |
G |
1: 36,740,244 (GRCm39) |
V299A |
possibly damaging |
Het |
| Ampd3 |
T |
A |
7: 110,390,387 (GRCm39) |
|
probably null |
Het |
| Atm |
A |
C |
9: 53,355,300 (GRCm39) |
I2898R |
probably damaging |
Het |
| Bpifb6 |
G |
C |
2: 153,748,812 (GRCm39) |
K269N |
possibly damaging |
Het |
| Cacna1c |
T |
C |
6: 118,575,684 (GRCm39) |
E1927G |
possibly damaging |
Het |
| Cacna1c |
T |
A |
6: 118,629,675 (GRCm39) |
T1249S |
probably benign |
Het |
| Cars2 |
TCCCC |
TCCC |
8: 11,579,599 (GRCm39) |
|
probably null |
Het |
| Cbll1 |
A |
G |
12: 31,537,507 (GRCm39) |
V415A |
probably benign |
Het |
| Cd300lf |
C |
T |
11: 115,015,195 (GRCm39) |
V132I |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,113,419 (GRCm39) |
E1187G |
probably damaging |
Het |
| Cntrl |
T |
C |
2: 35,019,805 (GRCm39) |
L544P |
probably damaging |
Het |
| Cryga |
A |
C |
1: 65,142,169 (GRCm39) |
S75A |
probably benign |
Het |
| Dcbld1 |
T |
A |
10: 52,195,576 (GRCm39) |
Y261* |
probably null |
Het |
| Ddx11 |
G |
A |
17: 66,457,724 (GRCm39) |
|
probably null |
Het |
| Dgke |
C |
T |
11: 88,931,575 (GRCm39) |
V560I |
probably benign |
Het |
| Dst |
A |
C |
1: 34,267,753 (GRCm39) |
D5065A |
probably damaging |
Het |
| Dusp16 |
C |
A |
6: 134,697,456 (GRCm39) |
|
probably null |
Het |
| Eif4enif1 |
T |
A |
11: 3,177,793 (GRCm39) |
V395E |
probably damaging |
Het |
| Enox1 |
A |
G |
14: 77,815,204 (GRCm39) |
T121A |
probably damaging |
Het |
| Enpp4 |
G |
T |
17: 44,413,371 (GRCm39) |
N54K |
probably benign |
Het |
| Erc2 |
A |
T |
14: 27,802,112 (GRCm39) |
K764M |
probably damaging |
Het |
| Ercc6 |
G |
T |
14: 32,248,360 (GRCm39) |
E304* |
probably null |
Het |
| Fam117a |
T |
A |
11: 95,254,971 (GRCm39) |
C115S |
possibly damaging |
Het |
| Fcrl5 |
G |
A |
3: 87,355,631 (GRCm39) |
G448E |
probably damaging |
Het |
| Galntl5 |
T |
C |
5: 25,391,163 (GRCm39) |
S21P |
probably benign |
Het |
| Garnl3 |
T |
C |
2: 32,994,892 (GRCm39) |
D39G |
probably benign |
Het |
| Gm14295 |
C |
T |
2: 176,500,782 (GRCm39) |
Q91* |
probably null |
Het |
| Grb10 |
T |
A |
11: 11,920,639 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
C |
T |
10: 119,911,369 (GRCm39) |
Q696* |
probably null |
Het |
| Herc2 |
T |
A |
7: 55,802,914 (GRCm39) |
C2112* |
probably null |
Het |
| Herc2 |
T |
G |
7: 55,854,466 (GRCm39) |
L3797R |
possibly damaging |
Het |
| Ighm |
T |
C |
12: 113,385,187 (GRCm39) |
I258V |
unknown |
Het |
| Jarid2 |
T |
A |
13: 45,056,539 (GRCm39) |
Y443N |
possibly damaging |
Het |
| Kif13b |
A |
G |
14: 64,976,083 (GRCm39) |
Y466C |
probably damaging |
Het |
| Krtap4-6 |
T |
A |
11: 99,556,245 (GRCm39) |
R161* |
probably null |
Het |
| Lingo4 |
G |
A |
3: 94,310,697 (GRCm39) |
G545E |
probably benign |
Het |
| Lmo2 |
T |
G |
2: 103,800,946 (GRCm39) |
V39G |
possibly damaging |
Het |
| Loricrin |
C |
A |
3: 91,989,119 (GRCm39) |
G56* |
probably null |
Het |
| Lrfn1 |
A |
G |
7: 28,159,169 (GRCm39) |
R363G |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,547,537 (GRCm39) |
D446G |
probably benign |
Het |
| Ltbp1 |
G |
T |
17: 75,312,984 (GRCm39) |
G35V |
possibly damaging |
Het |
| Magel2 |
G |
A |
7: 62,028,427 (GRCm39) |
V444M |
probably damaging |
Het |
| Mkx |
A |
T |
18: 7,000,591 (GRCm39) |
|
probably null |
Het |
| Ms4a7 |
A |
T |
19: 11,310,659 (GRCm39) |
I20N |
possibly damaging |
Het |
| Myo5b |
A |
G |
18: 74,750,062 (GRCm39) |
Y173C |
probably damaging |
Het |
| Nek1 |
C |
T |
8: 61,525,343 (GRCm39) |
Q594* |
probably null |
Het |
| Nipbl |
T |
C |
15: 8,330,379 (GRCm39) |
M2349V |
possibly damaging |
Het |
| Nmnat2 |
A |
T |
1: 152,952,717 (GRCm39) |
H102L |
probably damaging |
Het |
| Nup155 |
T |
A |
15: 8,182,639 (GRCm39) |
C1201S |
probably damaging |
Het |
| Or2y8 |
C |
A |
11: 52,035,423 (GRCm39) |
R311S |
probably benign |
Het |
| Or4a76 |
G |
A |
2: 89,460,975 (GRCm39) |
T89I |
probably damaging |
Het |
| Or52x1 |
G |
A |
7: 104,852,599 (GRCm39) |
T317I |
probably damaging |
Het |
| Osbpl1a |
A |
G |
18: 12,952,560 (GRCm39) |
|
probably null |
Het |
| Pcnt |
A |
G |
10: 76,221,632 (GRCm39) |
V1998A |
probably benign |
Het |
| Pitpnc1 |
T |
C |
11: 107,117,092 (GRCm39) |
H193R |
probably damaging |
Het |
| Pitpnm1 |
T |
C |
19: 4,160,522 (GRCm39) |
L781P |
probably damaging |
Het |
| Prdm14 |
A |
T |
1: 13,189,160 (GRCm39) |
C395S |
probably damaging |
Het |
| Prmt8 |
A |
G |
6: 127,688,767 (GRCm39) |
I201T |
probably damaging |
Het |
| Pter |
T |
C |
2: 12,983,352 (GRCm39) |
V119A |
probably damaging |
Het |
| Rab11fip4 |
T |
C |
11: 79,581,655 (GRCm39) |
|
probably null |
Het |
| Rgs9 |
T |
C |
11: 109,159,813 (GRCm39) |
N173S |
probably benign |
Het |
| Rorb |
C |
A |
19: 18,955,221 (GRCm39) |
V47L |
possibly damaging |
Het |
| Rtn4r |
A |
G |
16: 17,969,046 (GRCm39) |
Y158C |
probably damaging |
Het |
| Sdr16c5 |
C |
T |
4: 4,016,162 (GRCm39) |
G88E |
probably damaging |
Het |
| Sfxn1 |
C |
T |
13: 54,247,899 (GRCm39) |
T208I |
probably benign |
Het |
| Sgo2b |
C |
T |
8: 64,380,827 (GRCm39) |
M668I |
probably benign |
Het |
| Slc52a3 |
G |
T |
2: 151,849,529 (GRCm39) |
|
probably null |
Het |
| Smco1 |
A |
T |
16: 32,092,832 (GRCm39) |
M168L |
probably benign |
Het |
| Spata31d1d |
G |
A |
13: 59,876,278 (GRCm39) |
T419I |
possibly damaging |
Het |
| Spata31d1e |
T |
C |
13: 59,890,497 (GRCm39) |
D441G |
probably benign |
Het |
| Spink5 |
T |
C |
18: 44,147,824 (GRCm39) |
S857P |
probably damaging |
Het |
| Stk35 |
T |
A |
2: 129,652,808 (GRCm39) |
Y436* |
probably null |
Het |
| Tmem225 |
T |
A |
9: 40,059,731 (GRCm39) |
I37N |
probably damaging |
Het |
| Unkl |
T |
C |
17: 25,450,839 (GRCm39) |
*232R |
probably null |
Het |
| Vmn1r128 |
A |
T |
7: 21,084,221 (GRCm39) |
*308C |
probably null |
Het |
| Vmn2r45 |
A |
G |
7: 8,475,207 (GRCm39) |
V607A |
probably benign |
Het |
| Vmn2r63 |
A |
T |
7: 42,578,059 (GRCm39) |
|
probably null |
Het |
| Wnk4 |
A |
T |
11: 101,164,824 (GRCm39) |
N718Y |
probably damaging |
Het |
| Zfp503 |
G |
C |
14: 22,035,868 (GRCm39) |
Y349* |
probably null |
Het |
| Zfp990 |
T |
A |
4: 145,264,673 (GRCm39) |
F557Y |
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 |
|
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 |
|
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 |
2018-03-15 |
Incidental Mutation