Incidental Mutation 'R2432:Usp16'
| ID |
250471 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp16
|
| Ensembl Gene |
ENSMUSG00000025616 |
| Gene Name |
ubiquitin specific peptidase 16 |
| Synonyms |
2810483I07Rik, 6330514E22Rik, UBP-M, 1200004E02Rik |
| MMRRC Submission |
040393-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2432 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
87251833-87280403 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 87263246 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026710]
[ENSMUST00000119504]
[ENSMUST00000119504]
[ENSMUST00000131356]
[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: 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 |
probably benign
Transcript: ENSMUST00000131356
|
| 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: ENSMUST00000144886
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177538
|
| Meta Mutation Damage Score |
0.9495 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (53/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,401,333 (GRCm39) |
|
probably benign |
Het |
| Adamts6 |
A |
T |
13: 104,563,485 (GRCm39) |
Y659F |
probably benign |
Het |
| Adamts9 |
C |
A |
6: 92,834,881 (GRCm39) |
G750W |
probably damaging |
Het |
| Adgrv1 |
GA |
GAA |
13: 81,688,251 (GRCm39) |
|
probably null |
Het |
| Aspscr1 |
A |
G |
11: 120,593,392 (GRCm39) |
|
probably benign |
Het |
| Calr3 |
A |
G |
8: 73,192,270 (GRCm39) |
|
probably benign |
Het |
| Cpt2 |
A |
T |
4: 107,761,723 (GRCm39) |
Y126* |
probably null |
Het |
| Cyp2d34 |
A |
G |
15: 82,503,212 (GRCm39) |
L94P |
probably damaging |
Het |
| Def6 |
A |
T |
17: 28,447,043 (GRCm39) |
D558V |
probably benign |
Het |
| Dnase1l2 |
G |
A |
17: 24,661,699 (GRCm39) |
T20I |
possibly damaging |
Het |
| Eif5b |
A |
G |
1: 38,058,423 (GRCm39) |
K242E |
unknown |
Het |
| Golim4 |
T |
C |
3: 75,799,249 (GRCm39) |
N478S |
possibly damaging |
Het |
| Helb |
A |
T |
10: 119,941,442 (GRCm39) |
D415E |
probably benign |
Het |
| Ifna12 |
T |
A |
4: 88,521,590 (GRCm39) |
|
probably benign |
Het |
| Jhy |
T |
A |
9: 40,872,182 (GRCm39) |
H109L |
probably benign |
Het |
| Krt87 |
A |
T |
15: 101,386,037 (GRCm39) |
Y241* |
probably null |
Het |
| Macf1 |
G |
T |
4: 123,577,789 (GRCm39) |
A65E |
probably damaging |
Het |
| Mug2 |
C |
A |
6: 122,061,335 (GRCm39) |
N1418K |
possibly damaging |
Het |
| Myo1f |
A |
G |
17: 33,794,823 (GRCm39) |
D21G |
probably damaging |
Het |
| Myo5a |
T |
A |
9: 75,120,155 (GRCm39) |
I1651N |
possibly damaging |
Het |
| Notch3 |
A |
T |
17: 32,372,778 (GRCm39) |
C598S |
probably damaging |
Het |
| Npat |
A |
T |
9: 53,469,435 (GRCm39) |
H307L |
probably damaging |
Het |
| Nr1h2 |
T |
C |
7: 44,200,791 (GRCm39) |
Q279R |
possibly damaging |
Het |
| Or4k52 |
T |
C |
2: 111,611,016 (GRCm39) |
V117A |
probably benign |
Het |
| Or6c6c |
A |
G |
10: 129,540,794 (GRCm39) |
T16A |
possibly damaging |
Het |
| Pcdhb16 |
A |
T |
18: 37,612,983 (GRCm39) |
N648Y |
probably damaging |
Het |
| Pdzrn3 |
G |
T |
6: 101,127,752 (GRCm39) |
S971R |
probably damaging |
Het |
| Plch2 |
A |
G |
4: 155,070,621 (GRCm39) |
*494Q |
probably null |
Het |
| Plekhg4 |
T |
A |
8: 106,108,468 (GRCm39) |
D1170E |
probably benign |
Het |
| Plekhm3 |
A |
G |
1: 64,977,015 (GRCm39) |
S152P |
probably damaging |
Het |
| Ppargc1b |
G |
A |
18: 61,440,870 (GRCm39) |
P683S |
possibly damaging |
Het |
| Prdm12 |
T |
G |
2: 31,541,864 (GRCm39) |
M191R |
probably benign |
Het |
| Prdm14 |
T |
C |
1: 13,195,857 (GRCm39) |
D68G |
probably benign |
Het |
| Prp2 |
C |
T |
6: 132,576,874 (GRCm39) |
P54S |
unknown |
Het |
| Prpf4b |
A |
G |
13: 35,067,324 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,468,840 (GRCm39) |
V1408E |
probably damaging |
Het |
| Rap1gds1 |
A |
G |
3: 138,662,011 (GRCm39) |
M415T |
probably damaging |
Het |
| Rps6ka5 |
A |
G |
12: 100,520,664 (GRCm39) |
F621S |
probably damaging |
Het |
| Rrm1 |
T |
A |
7: 102,092,279 (GRCm39) |
D35E |
probably benign |
Het |
| Rxfp3 |
T |
C |
15: 11,036,226 (GRCm39) |
H382R |
probably damaging |
Het |
| Slc11a1 |
A |
G |
1: 74,422,910 (GRCm39) |
|
probably benign |
Het |
| Slc25a13 |
A |
T |
6: 6,114,017 (GRCm39) |
M285K |
probably benign |
Het |
| Slc30a3 |
T |
C |
5: 31,246,038 (GRCm39) |
S231G |
probably damaging |
Het |
| Slc44a2 |
A |
T |
9: 21,256,130 (GRCm39) |
I274F |
probably damaging |
Het |
| Tas2r119 |
A |
G |
15: 32,178,165 (GRCm39) |
I244V |
possibly damaging |
Het |
| Tenm2 |
C |
A |
11: 35,918,018 (GRCm39) |
R1914L |
probably damaging |
Het |
| Tfdp2 |
T |
C |
9: 96,192,643 (GRCm39) |
M242T |
probably damaging |
Het |
| Tmprss6 |
A |
G |
15: 78,349,304 (GRCm39) |
|
probably benign |
Het |
| Ttc6 |
C |
T |
12: 57,668,821 (GRCm39) |
P421L |
possibly damaging |
Het |
| Usp40 |
T |
C |
1: 87,909,804 (GRCm39) |
E550G |
probably benign |
Het |
| Vmn2r28 |
T |
C |
7: 5,491,701 (GRCm39) |
Y182C |
probably damaging |
Het |
| Zfp382 |
A |
G |
7: 29,833,174 (GRCm39) |
D275G |
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 |
|
|
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 |
|
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'- CGTTGCCAGCCCTACTTTCA -3'
(R):5'- CCTGCTATGTGTAATACTGGAGGT -3'
Sequencing Primer
(F):5'- AGCCCTACTTTCATTGTTTTTAGTAG -3'
(R):5'- ACAGAAGGATTCTCTGTGAGCTC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation