Incidental Mutation 'R7889:Usp16'
| ID |
609238 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp16
|
| Ensembl Gene |
ENSMUSG00000025616 |
| Gene Name |
ubiquitin specific peptidase 16 |
| Synonyms |
2810483I07Rik, 6330514E22Rik, UBP-M, 1200004E02Rik |
| MMRRC Submission |
045941-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7889 (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 C
at 87271472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 344
(Y344H)
|
| 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: Y344H
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000026710
Gene: ENSMUSG00000025616
AA Change: Y344H
| 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: Y343H
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114058
Gene: ENSMUSG00000025616
AA Change: Y343H
| 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 |
silent
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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (61/61) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg2a |
A |
G |
3: 37,632,959 (GRCm39) |
D855G |
probably benign |
Het |
| Angptl3 |
C |
T |
4: 98,919,308 (GRCm39) |
L23F |
probably benign |
Het |
| Art2a |
C |
T |
7: 101,204,418 (GRCm39) |
S40N |
not run |
Het |
| Ash1l |
A |
G |
3: 88,873,345 (GRCm39) |
T43A |
probably benign |
Het |
| Atp1a2 |
G |
A |
1: 172,105,631 (GRCm39) |
|
probably null |
Het |
| Azi2 |
A |
G |
9: 117,890,983 (GRCm39) |
E336G |
probably benign |
Het |
| Cap2 |
A |
G |
13: 46,800,051 (GRCm39) |
H419R |
probably damaging |
Het |
| Ccdc14 |
T |
A |
16: 34,544,206 (GRCm39) |
S903T |
probably damaging |
Het |
| Cep72 |
A |
T |
13: 74,198,241 (GRCm39) |
S380T |
possibly damaging |
Het |
| Clca3a2 |
C |
A |
3: 144,516,574 (GRCm39) |
E341* |
probably null |
Het |
| Clcnkb |
T |
G |
4: 141,137,915 (GRCm39) |
I294L |
probably benign |
Het |
| Csnk2a1-ps3 |
G |
A |
1: 156,352,965 (GRCm39) |
A389T |
probably benign |
Het |
| Cyp2d9 |
T |
A |
15: 82,340,027 (GRCm39) |
M350K |
probably damaging |
Het |
| Dhx40 |
T |
G |
11: 86,689,793 (GRCm39) |
I266L |
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,448,560 (GRCm39) |
E4208* |
probably null |
Het |
| Dync2i1 |
T |
A |
12: 116,219,559 (GRCm39) |
K128* |
probably null |
Het |
| Ephb2 |
T |
C |
4: 136,498,353 (GRCm39) |
N242S |
probably damaging |
Het |
| Fam13b |
A |
T |
18: 34,590,744 (GRCm39) |
F478Y |
probably benign |
Het |
| Fastkd2 |
C |
G |
1: 63,774,619 (GRCm39) |
|
probably null |
Het |
| Fbxo40 |
T |
A |
16: 36,790,012 (GRCm39) |
D366V |
probably damaging |
Het |
| Fhod3 |
A |
T |
18: 24,903,551 (GRCm39) |
K95M |
probably damaging |
Het |
| Foxo3 |
T |
A |
10: 42,151,023 (GRCm39) |
Q136L |
probably benign |
Het |
| Gadl1 |
A |
T |
9: 115,783,883 (GRCm39) |
Q236L |
possibly damaging |
Het |
| Galnt13 |
A |
G |
2: 55,002,873 (GRCm39) |
D560G |
probably benign |
Het |
| Ghsr |
A |
G |
3: 27,426,315 (GRCm39) |
S124G |
probably benign |
Het |
| Gkn2 |
A |
G |
6: 87,355,268 (GRCm39) |
|
probably null |
Het |
| Glyctk |
T |
A |
9: 106,033,638 (GRCm39) |
R68W |
unknown |
Het |
| Gm5157 |
G |
A |
7: 20,918,641 (GRCm39) |
P301S |
unknown |
Het |
| Hdc |
A |
T |
2: 126,458,130 (GRCm39) |
I64N |
probably damaging |
Het |
| Helq |
A |
T |
5: 100,940,427 (GRCm39) |
|
probably null |
Het |
| Ighv1-43 |
T |
C |
12: 114,909,583 (GRCm39) |
Y113C |
probably damaging |
Het |
| Ipo9 |
T |
C |
1: 135,334,591 (GRCm39) |
T273A |
probably benign |
Het |
| Itga4 |
G |
A |
2: 79,146,389 (GRCm39) |
V774I |
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,335,751 (GRCm39) |
L2287P |
probably damaging |
Het |
| Llgl1 |
T |
A |
11: 60,598,138 (GRCm39) |
I394N |
probably damaging |
Het |
| Mta1 |
G |
A |
12: 113,095,308 (GRCm39) |
R487H |
probably benign |
Het |
| Neb |
T |
C |
2: 52,037,681 (GRCm39) |
D7049G |
probably benign |
Het |
| Nlrp4f |
G |
A |
13: 65,342,832 (GRCm39) |
S271F |
probably damaging |
Het |
| Noxo1 |
A |
G |
17: 24,918,356 (GRCm39) |
D172G |
probably damaging |
Het |
| Nup155 |
T |
A |
15: 8,150,991 (GRCm39) |
V347E |
probably damaging |
Het |
| Oaf |
G |
T |
9: 43,133,968 (GRCm39) |
A251E |
possibly damaging |
Het |
| Pds5b |
T |
A |
5: 150,715,637 (GRCm39) |
F1039I |
probably damaging |
Het |
| Pla2g12b |
T |
A |
10: 59,257,062 (GRCm39) |
|
probably null |
Het |
| Prmt3 |
A |
G |
7: 49,437,049 (GRCm39) |
D208G |
possibly damaging |
Het |
| Ptcd3 |
G |
A |
6: 71,865,592 (GRCm39) |
T441M |
probably damaging |
Het |
| Rabl6 |
A |
G |
2: 25,474,786 (GRCm39) |
|
probably null |
Het |
| Shtn1 |
T |
A |
19: 58,992,328 (GRCm39) |
I417F |
probably damaging |
Het |
| Slc20a2 |
T |
C |
8: 23,030,417 (GRCm39) |
S158P |
probably damaging |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,717,649 (GRCm39) |
Y232C |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,534,942 (GRCm39) |
T3733I |
probably benign |
Het |
| Thrap3 |
A |
T |
4: 126,071,855 (GRCm39) |
F512L |
probably benign |
Het |
| Tmem150c |
A |
T |
5: 100,240,963 (GRCm39) |
I30K |
probably damaging |
Het |
| Tnnt1 |
C |
T |
7: 4,511,582 (GRCm39) |
A168T |
probably damaging |
Het |
| Trak2 |
A |
G |
1: 58,957,983 (GRCm39) |
L308P |
probably damaging |
Het |
| Trp53i11 |
T |
C |
2: 93,029,244 (GRCm39) |
L81P |
probably damaging |
Het |
| Vinac1 |
T |
C |
2: 128,878,914 (GRCm39) |
E1004G |
unknown |
Het |
| Xrcc5 |
G |
T |
1: 72,395,985 (GRCm39) |
V593L |
probably benign |
Het |
| Zcchc14 |
A |
T |
8: 122,331,634 (GRCm39) |
H576Q |
unknown |
Het |
| Zfp616 |
T |
A |
11: 73,976,271 (GRCm39) |
C847S |
probably damaging |
Het |
| Zfp626 |
A |
T |
7: 27,518,924 (GRCm39) |
Y635F |
probably benign |
Het |
| Zfp799 |
G |
A |
17: 33,038,473 (GRCm39) |
R598* |
probably null |
Het |
| Zfp831 |
A |
G |
2: 174,487,097 (GRCm39) |
K591E |
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 |
|
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 |
|
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'- TGTGCGCACAGACACATATC -3'
(R):5'- TAAATAGCCCTGGCAAAGGC -3'
Sequencing Primer
(F):5'- TGTTAATTTTGTTCTCAGTGGTAGAC -3'
(R):5'- TGGCAAAGGCACACTCCTTG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation