Incidental Mutation 'IGL01322:Usp16'
| ID |
74094 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Usp16
|
| Ensembl Gene |
ENSMUSG00000025616 |
| Gene Name |
ubiquitin specific peptidase 16 |
| Synonyms |
2810483I07Rik, 6330514E22Rik, UBP-M, 1200004E02Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01322
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
87251833-87280403 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87263164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 122
(V122A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026710]
[ENSMUST00000119504]
[ENSMUST00000131356]
[ENSMUST00000144759]
|
| AlphaFold |
Q99LG0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026710
AA Change: V122A
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000026710
Gene: ENSMUSG00000025616
AA Change: V122A
| 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 |
possibly damaging
Transcript: ENSMUST00000119504
AA Change: V122A
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114058
Gene: ENSMUSG00000025616
AA Change: V122A
| 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 |
possibly damaging
Transcript: ENSMUST00000144759
AA Change: V122A
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000116323
Gene: ENSMUSG00000025616
AA Change: V122A
| 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
|
| Coding Region Coverage |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
A |
7: 120,038,422 (GRCm39) |
L368Q |
probably damaging |
Het |
| Abca2 |
T |
A |
2: 25,336,794 (GRCm39) |
|
probably null |
Het |
| Ano7 |
T |
A |
1: 93,323,230 (GRCm39) |
V497D |
probably benign |
Het |
| B4gat1 |
T |
C |
19: 5,090,037 (GRCm39) |
Y345H |
probably damaging |
Het |
| Bckdha |
T |
A |
7: 25,358,132 (GRCm39) |
R12W |
possibly damaging |
Het |
| Bcl7c |
T |
A |
7: 127,306,608 (GRCm39) |
N93Y |
probably damaging |
Het |
| Cc2d2a |
C |
A |
5: 43,846,345 (GRCm39) |
T368K |
probably benign |
Het |
| Chek1 |
G |
A |
9: 36,629,717 (GRCm39) |
Q210* |
probably null |
Het |
| Chrdl2 |
A |
G |
7: 99,666,248 (GRCm39) |
Y56C |
probably damaging |
Het |
| Cspg4 |
T |
A |
9: 56,805,872 (GRCm39) |
F2228I |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,473,205 (GRCm39) |
M3474V |
probably benign |
Het |
| Dph7 |
T |
C |
2: 24,855,629 (GRCm39) |
S143P |
possibly damaging |
Het |
| Ehbp1 |
T |
A |
11: 22,039,636 (GRCm39) |
K821N |
probably damaging |
Het |
| Eomes |
T |
C |
9: 118,313,898 (GRCm39) |
S648P |
probably benign |
Het |
| Fam20a |
A |
G |
11: 109,573,738 (GRCm39) |
V215A |
probably damaging |
Het |
| Fer1l4 |
T |
A |
2: 155,862,259 (GRCm39) |
|
probably null |
Het |
| Frem2 |
A |
G |
3: 53,448,459 (GRCm39) |
V2319A |
probably benign |
Het |
| Gtf3c4 |
T |
C |
2: 28,723,584 (GRCm39) |
D575G |
probably benign |
Het |
| Ifit1bl2 |
A |
G |
19: 34,596,404 (GRCm39) |
V404A |
probably benign |
Het |
| Kcnf1 |
T |
C |
12: 17,225,349 (GRCm39) |
M291V |
probably benign |
Het |
| Klra1 |
T |
A |
6: 130,341,224 (GRCm39) |
I250F |
probably benign |
Het |
| Klra4 |
T |
A |
6: 130,038,985 (GRCm39) |
T136S |
probably benign |
Het |
| Mcrs1 |
A |
T |
15: 99,141,266 (GRCm39) |
I399N |
probably damaging |
Het |
| Neo1 |
T |
C |
9: 58,814,368 (GRCm39) |
E866G |
possibly damaging |
Het |
| Notch3 |
T |
C |
17: 32,363,445 (GRCm39) |
D1206G |
probably damaging |
Het |
| Or10ab4 |
A |
G |
7: 107,654,188 (GRCm39) |
|
probably benign |
Het |
| Or14c43 |
T |
A |
7: 86,115,480 (GRCm39) |
I287N |
probably damaging |
Het |
| Or4z4 |
A |
C |
19: 12,076,769 (GRCm39) |
V78G |
probably benign |
Het |
| Or5ae1 |
T |
A |
7: 84,565,590 (GRCm39) |
V201E |
probably damaging |
Het |
| Or5b95 |
A |
C |
19: 12,658,113 (GRCm39) |
I214L |
probably benign |
Het |
| Or6c210 |
A |
G |
10: 129,495,995 (GRCm39) |
T107A |
probably benign |
Het |
| Pnkd |
A |
G |
1: 74,390,716 (GRCm39) |
N336D |
probably damaging |
Het |
| Prag1 |
T |
C |
8: 36,571,088 (GRCm39) |
V557A |
probably benign |
Het |
| Ptgfr |
A |
C |
3: 151,541,323 (GRCm39) |
S62A |
probably benign |
Het |
| Smc2 |
A |
G |
4: 52,450,842 (GRCm39) |
Y220C |
probably damaging |
Het |
| Sufu |
G |
A |
19: 46,439,382 (GRCm39) |
E246K |
probably damaging |
Het |
| Sult2a1 |
T |
A |
7: 13,566,604 (GRCm39) |
R124* |
probably null |
Het |
| Sult4a1 |
T |
A |
15: 83,970,817 (GRCm39) |
Y196F |
possibly damaging |
Het |
| Trim15 |
G |
A |
17: 37,175,975 (GRCm39) |
R191W |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,773,319 (GRCm39) |
V2361A |
possibly damaging |
Het |
| Vmn1r122 |
T |
A |
7: 20,868,036 (GRCm39) |
K6N |
probably benign |
Het |
| Vmn1r34 |
G |
A |
6: 66,613,899 (GRCm39) |
Q280* |
probably null |
Het |
| Vmn2r45 |
T |
A |
7: 8,484,332 (GRCm39) |
H491L |
possibly damaging |
Het |
| Wdpcp |
T |
C |
11: 21,661,949 (GRCm39) |
L407P |
probably damaging |
Het |
| Zfp157 |
T |
C |
5: 138,445,840 (GRCm39) |
I65T |
probably benign |
Het |
|
| Other mutations in Usp16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation