Incidental Mutation 'R3110:Usp16'
ID |
263850 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp16
|
Ensembl Gene |
ENSMUSG00000025616 |
Gene Name |
ubiquitin specific peptidase 16 |
Synonyms |
2810483I07Rik, 6330514E22Rik, UBP-M, 1200004E02Rik |
MMRRC Submission |
040584-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3110 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
87251833-87280403 bp(+) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
T to A
at 87268736 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114058
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026710]
[ENSMUST00000026710]
[ENSMUST00000119504]
[ENSMUST00000119504]
[ENSMUST00000144759]
[ENSMUST00000144759]
|
AlphaFold |
Q99LG0 |
Predicted Effect |
probably null
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 null
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 null
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 |
probably null
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: ENSMUST00000131206
|
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 |
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
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
98% (51/52) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
A |
11: 110,069,655 (GRCm39) |
K1554* |
probably null |
Het |
Acads |
T |
C |
5: 115,255,757 (GRCm39) |
H26R |
probably benign |
Het |
Acer1 |
G |
A |
17: 57,265,406 (GRCm39) |
T141I |
probably damaging |
Het |
Adam15 |
C |
G |
3: 89,254,764 (GRCm39) |
V99L |
probably benign |
Het |
Ankrd13b |
A |
G |
11: 77,368,331 (GRCm39) |
V97A |
possibly damaging |
Het |
Anpep |
T |
C |
7: 79,491,720 (GRCm39) |
T94A |
probably benign |
Het |
Atp1a3 |
T |
C |
7: 24,694,119 (GRCm39) |
N345S |
probably damaging |
Het |
Btn1a1 |
T |
A |
13: 23,645,721 (GRCm39) |
N216I |
possibly damaging |
Het |
Cacna1s |
G |
A |
1: 136,002,831 (GRCm39) |
W62* |
probably null |
Het |
Ccdc141 |
C |
T |
2: 76,869,830 (GRCm39) |
V892I |
probably benign |
Het |
Ccdc180 |
T |
A |
4: 45,900,470 (GRCm39) |
I278K |
possibly damaging |
Het |
Cdc7 |
T |
G |
5: 107,122,564 (GRCm39) |
|
probably null |
Het |
Cpb1 |
C |
T |
3: 20,319,521 (GRCm39) |
V188M |
probably damaging |
Het |
Dock5 |
A |
G |
14: 68,095,371 (GRCm39) |
I101T |
possibly damaging |
Het |
Dqx1 |
T |
C |
6: 83,035,953 (GRCm39) |
V95A |
probably damaging |
Het |
Dvl1 |
T |
A |
4: 155,938,123 (GRCm39) |
D90E |
probably damaging |
Het |
Ebf1 |
T |
A |
11: 44,534,225 (GRCm39) |
|
probably benign |
Het |
Fam135b |
T |
C |
15: 71,335,879 (GRCm39) |
I438M |
probably benign |
Het |
Fpr1 |
A |
T |
17: 18,096,897 (GRCm39) |
M364K |
probably benign |
Het |
Gm9932 |
A |
T |
5: 100,346,794 (GRCm39) |
|
unknown |
Het |
Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
Gpx7 |
C |
A |
4: 108,260,470 (GRCm39) |
V109F |
probably damaging |
Het |
Grhl2 |
T |
C |
15: 37,336,591 (GRCm39) |
|
probably null |
Het |
Grn |
A |
G |
11: 102,324,069 (GRCm39) |
T53A |
probably benign |
Het |
H1f4 |
T |
C |
13: 23,805,829 (GRCm39) |
|
probably benign |
Het |
H2-T9 |
T |
C |
17: 36,440,038 (GRCm39) |
Y32C |
probably damaging |
Het |
Hmgxb3 |
T |
C |
18: 61,280,454 (GRCm39) |
N683S |
probably damaging |
Het |
Iigp1 |
T |
C |
18: 60,523,983 (GRCm39) |
I367T |
probably benign |
Het |
Itfg2 |
T |
C |
6: 128,388,632 (GRCm39) |
E285G |
probably damaging |
Het |
Itgav |
T |
A |
2: 83,622,915 (GRCm39) |
C662* |
probably null |
Het |
Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
Jmjd1c |
T |
A |
10: 67,075,863 (GRCm39) |
|
probably benign |
Het |
Lipe |
T |
C |
7: 25,097,848 (GRCm39) |
T32A |
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,698,898 (GRCm39) |
Y2475C |
probably benign |
Het |
Mcc |
T |
C |
18: 44,582,330 (GRCm39) |
D607G |
probably damaging |
Het |
Mip |
T |
A |
10: 128,061,875 (GRCm39) |
L42* |
probably null |
Het |
Mlc1 |
A |
T |
15: 88,850,199 (GRCm39) |
D192E |
probably benign |
Het |
Muc2 |
T |
C |
7: 141,299,225 (GRCm39) |
|
probably benign |
Het |
Mybl1 |
T |
C |
1: 9,752,095 (GRCm39) |
D260G |
probably damaging |
Het |
Ncln |
C |
T |
10: 81,323,519 (GRCm39) |
V51I |
probably benign |
Het |
Nlrp9a |
T |
C |
7: 26,257,297 (GRCm39) |
V305A |
probably benign |
Het |
Nodal |
G |
A |
10: 61,260,276 (GRCm39) |
R309Q |
possibly damaging |
Het |
Olr1 |
T |
C |
6: 129,476,881 (GRCm39) |
N128S |
possibly damaging |
Het |
Or10ak14 |
A |
T |
4: 118,611,421 (GRCm39) |
F105I |
probably damaging |
Het |
Or12j5 |
A |
G |
7: 140,083,832 (GRCm39) |
I180T |
probably damaging |
Het |
Or14a256 |
T |
C |
7: 86,264,884 (GRCm39) |
Y323C |
probably benign |
Het |
Orc1 |
T |
A |
4: 108,461,757 (GRCm39) |
C585S |
probably benign |
Het |
Pcmtd2 |
A |
T |
2: 181,496,922 (GRCm39) |
I300F |
probably damaging |
Het |
Phactr3 |
T |
A |
2: 177,920,810 (GRCm39) |
L180Q |
possibly damaging |
Het |
Pigo |
T |
C |
4: 43,021,083 (GRCm39) |
T612A |
probably benign |
Het |
Plch1 |
T |
A |
3: 63,616,952 (GRCm39) |
D766V |
probably damaging |
Het |
Plekhh3 |
T |
C |
11: 101,054,973 (GRCm39) |
|
probably benign |
Het |
Potefam1 |
T |
G |
2: 111,058,399 (GRCm39) |
L131F |
probably damaging |
Het |
Ppp1r12b |
T |
A |
1: 134,800,570 (GRCm39) |
T547S |
probably damaging |
Het |
Prkcb |
T |
A |
7: 122,116,079 (GRCm39) |
M186K |
probably damaging |
Het |
Prpf3 |
A |
T |
3: 95,757,112 (GRCm39) |
|
probably benign |
Het |
Psg23 |
T |
C |
7: 18,344,369 (GRCm39) |
D362G |
possibly damaging |
Het |
Reg3a |
T |
C |
6: 78,358,114 (GRCm39) |
L15P |
probably damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Scrib |
A |
T |
15: 75,941,223 (GRCm39) |
I5N |
probably damaging |
Het |
Speg |
C |
T |
1: 75,399,326 (GRCm39) |
Q2005* |
probably null |
Het |
Sppl3 |
A |
T |
5: 115,212,923 (GRCm39) |
S51C |
possibly damaging |
Het |
Sspo |
A |
G |
6: 48,434,534 (GRCm39) |
T1009A |
probably damaging |
Het |
Syce1l |
A |
G |
8: 114,381,579 (GRCm39) |
Q164R |
probably benign |
Het |
Sympk |
T |
C |
7: 18,768,409 (GRCm39) |
V126A |
possibly damaging |
Het |
Tas2r110 |
T |
A |
6: 132,844,987 (GRCm39) |
I6K |
unknown |
Het |
Tas2r120 |
A |
T |
6: 132,634,731 (GRCm39) |
H271L |
probably damaging |
Het |
Tlcd3a |
A |
G |
11: 76,093,057 (GRCm39) |
D33G |
probably benign |
Het |
Tnn |
T |
A |
1: 159,943,856 (GRCm39) |
T986S |
possibly damaging |
Het |
Trim5 |
T |
C |
7: 103,928,845 (GRCm39) |
H32R |
probably damaging |
Het |
Ttc13 |
A |
G |
8: 125,410,573 (GRCm39) |
I360T |
possibly damaging |
Het |
Uaca |
A |
G |
9: 60,778,781 (GRCm39) |
E1054G |
probably damaging |
Het |
Wee1 |
T |
A |
7: 109,730,043 (GRCm39) |
S382R |
probably damaging |
Het |
Wnt11 |
T |
C |
7: 98,495,771 (GRCm39) |
S92P |
probably damaging |
Het |
Zfp1004 |
C |
G |
2: 150,034,141 (GRCm39) |
P185R |
probably damaging |
Het |
Zfp786 |
A |
G |
6: 47,797,160 (GRCm39) |
C593R |
probably damaging |
Het |
Zfp879 |
T |
G |
11: 50,723,989 (GRCm39) |
I283L |
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 |
|
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 |
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'- GGTCAGCTCTGTCACGATCATC -3'
(R):5'- GAGTTTTCTCAAACCTGTGTCTGC -3'
Sequencing Primer
(F):5'- CGATCATCGGCTTGTCACG -3'
(R):5'- CAAACCTGTGTCTGCTGTACGAAG -3'
|
Posted On |
2015-02-05 |