Mutagenetix > Incidental Mutation

Incidental Mutation 'R1818:Usp16'

204650

Institutional Source

Beutler Lab

Gene Symbol

Usp16

Ensembl Gene

ENSMUSG00000025616

Gene Name

ubiquitin specific peptidase 16

Synonyms

2810483I07Rik, 6330514E22Rik, UBP-M, 1200004E02Rik

MMRRC Submission

039846-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1818 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87251833-87280403 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 87276020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 452 (R452*)

Ref Sequence

ENSEMBL: ENSMUSP00000114058 (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 null
Transcript: ENSMUST00000026710
AA Change: R453*

SMART Domains

Protein: ENSMUSP00000026710
Gene: ENSMUSG00000025616
AA Change: R453*

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
AA Change: R452*

SMART Domains

Protein: ENSMUSP00000114058
Gene: ENSMUSG00000025616
AA Change: R452*

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: ENSMUST00000177275

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

Coding Region Coverage

1x: 97.3%
3x: 96.6%
10x: 94.5%
20x: 90.4%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,075,857 (GRCm39)		probably null	Het
Adam6b	T	A	12: 113,454,876 (GRCm39)	N564K	probably benign	Het
Ahi1	A	G	10: 20,864,461 (GRCm39)	Y731C	probably damaging	Het
Ankk1	A	G	9: 49,331,725 (GRCm39)	Y190H	probably benign	Het
Ankmy1	T	A	1: 92,814,553 (GRCm39)	D318V	probably benign	Het
Ankrd33b	G	A	15: 31,367,267 (GRCm39)	A91V	probably damaging	Het
Ap3b1	A	G	13: 94,608,212 (GRCm39)	N561S	possibly damaging	Het
Apob	A	G	12: 8,056,834 (GRCm39)	N1739S	probably damaging	Het
Apob	A	G	12: 8,063,064 (GRCm39)	T236A	possibly damaging	Het
Birc6	G	A	17: 74,956,844 (GRCm39)	A3593T	probably damaging	Het
Bnc2	A	G	4: 84,210,111 (GRCm39)	F778L	possibly damaging	Het
Capn2	T	A	1: 182,300,162 (GRCm39)	K609N	probably benign	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Card11	A	T	5: 140,871,315 (GRCm39)	D729E	probably benign	Het
Ccl20	A	G	1: 83,095,529 (GRCm39)	Y30C	probably damaging	Het
Cd209a	G	A	8: 3,795,576 (GRCm39)	T106I	probably damaging	Het
Cebpz	A	G	17: 79,242,805 (GRCm39)	L283P	probably damaging	Het
Cecr2	A	G	6: 120,708,228 (GRCm39)	T77A	probably damaging	Het
Clec4e	T	A	6: 123,262,452 (GRCm39)	D155V	possibly damaging	Het
Col25a1	G	A	3: 130,379,386 (GRCm39)		probably null	Het
Cyp2j11	A	T	4: 96,185,976 (GRCm39)	V403D	probably damaging	Het
Cyp4v3	G	A	8: 45,768,673 (GRCm39)	R296C	possibly damaging	Het
Ddx59	A	G	1: 136,360,245 (GRCm39)	I420V	probably damaging	Het
Denr	T	A	5: 124,055,283 (GRCm39)	D49E	probably benign	Het
Dnaaf3	A	T	7: 4,526,568 (GRCm39)		probably null	Het
Dnaaf3	G	T	7: 4,526,569 (GRCm39)	L503M	probably benign	Het
Dnah7a	A	C	1: 53,598,307 (GRCm39)	D1409E	probably benign	Het
Dnai4	A	G	4: 102,929,854 (GRCm39)	V56A	possibly damaging	Het
Efcab3	T	A	11: 104,612,333 (GRCm39)	L652Q	probably benign	Het
Ehd4	C	T	2: 119,932,885 (GRCm39)	W180*	probably null	Het
Ephb2	A	G	4: 136,382,647 (GRCm39)	S984P	probably benign	Het
Eva1a	T	C	6: 82,048,125 (GRCm39)	M1T	probably null	Het
Fam90a1a	C	G	8: 22,453,787 (GRCm39)	P381A	possibly damaging	Het
Fam90a1a	C	A	8: 22,453,788 (GRCm39)	P381Q	probably damaging	Het
Flnc	T	C	6: 29,457,447 (GRCm39)	Y2382H	probably damaging	Het
Flrt1	A	T	19: 7,072,711 (GRCm39)	L612Q	probably damaging	Het
Fubp1	T	A	3: 151,927,806 (GRCm39)	N419K	probably damaging	Het
Gin1	A	G	1: 97,712,951 (GRCm39)		probably null	Het
Gm4847	T	A	1: 166,465,788 (GRCm39)	H267L	probably damaging	Het
Golga4	T	G	9: 118,402,055 (GRCm39)	V91G	probably damaging	Het
Hip1r	T	C	5: 124,134,018 (GRCm39)		probably null	Het
Ice2	A	G	9: 69,339,383 (GRCm39)	S967G	probably benign	Het
Il18rap	A	G	1: 40,570,687 (GRCm39)	I210V	probably benign	Het
Impdh2	T	G	9: 108,440,411 (GRCm39)		probably null	Het
Inmt	C	A	6: 55,150,404 (GRCm39)	V78F	possibly damaging	Het
Inpp5e	T	C	2: 26,287,886 (GRCm39)	S637G	probably benign	Het
Kansl1	T	C	11: 104,233,283 (GRCm39)	H748R	possibly damaging	Het
Kif28	T	C	1: 179,533,319 (GRCm39)	K541E	possibly damaging	Het
Kifc1	G	A	17: 34,103,685 (GRCm39)	R195C	probably benign	Het
Kifc2	T	C	15: 76,550,281 (GRCm39)	V480A	probably damaging	Het
Lrrc74a	T	C	12: 86,784,484 (GRCm39)	Y71H	probably damaging	Het
Ly75	T	G	2: 60,142,121 (GRCm39)	T1330P	probably damaging	Het
Macf1	A	G	4: 123,270,210 (GRCm39)	V6647A	probably damaging	Het
Mgat1	T	C	11: 49,152,111 (GRCm39)	I198T	possibly damaging	Het
Morc3	A	G	16: 93,652,398 (GRCm39)	Y367C	probably damaging	Het
Mtfr1	A	G	3: 19,269,837 (GRCm39)	T162A	probably damaging	Het
Myrip	C	T	9: 120,217,228 (GRCm39)	S49L	probably damaging	Het
Nup153	A	T	13: 46,835,113 (GRCm39)	N1397K	possibly damaging	Het
Or5h26	T	C	16: 58,988,243 (GRCm39)	K88E	probably benign	Het
Or6x1	T	C	9: 40,098,558 (GRCm39)	V49A	probably benign	Het
Or8b36	T	C	9: 37,937,803 (GRCm39)	S234P	probably damaging	Het
Or8g21	T	C	9: 38,905,902 (GRCm39)	I276M	possibly damaging	Het
Pabpc2	G	T	18: 39,907,163 (GRCm39)	V143L	probably damaging	Het
Pals2	T	G	6: 50,140,411 (GRCm39)	F144V	probably benign	Het
Panx3	T	C	9: 37,575,322 (GRCm39)	K180R	probably benign	Het
Patj	G	A	4: 98,511,885 (GRCm39)	V144M	possibly damaging	Het
Pde1c	T	A	6: 56,103,877 (GRCm39)	K651*	probably null	Het
Pde4c	A	G	8: 71,179,638 (GRCm39)	H63R	probably benign	Het
Pdha2	T	A	3: 140,916,960 (GRCm39)	K183*	probably null	Het
Pkd1l3	T	A	8: 110,375,038 (GRCm39)	C1504S	probably benign	Het
Plbd2	A	T	5: 120,625,574 (GRCm39)		probably null	Het
Poteg	G	A	8: 27,940,195 (GRCm39)	W121*	probably null	Het
Prf1	C	A	10: 61,138,762 (GRCm39)	T240N	probably damaging	Het
Ptprf	A	G	4: 118,067,068 (GRCm39)	Y1883H	probably damaging	Het
Puf60	T	C	15: 75,943,323 (GRCm39)	T322A	possibly damaging	Het
Rev3l	A	G	10: 39,704,420 (GRCm39)	I281M	probably benign	Het
Rufy1	T	C	11: 50,305,399 (GRCm39)	I305V	probably benign	Het
Shisa9	A	C	16: 12,085,426 (GRCm39)	Q329P	probably damaging	Het
Siglech	G	A	7: 55,418,332 (GRCm39)	R100Q	probably damaging	Het
Slc13a5	T	A	11: 72,144,169 (GRCm39)	Y303F	probably benign	Het
Snx6	C	T	12: 54,830,259 (GRCm39)	V67I	possibly damaging	Het
Spef2	C	T	15: 9,584,194 (GRCm39)	E1624K	probably damaging	Het
Tecpr2	A	G	12: 110,892,888 (GRCm39)	Y310C	probably damaging	Het
Top1	T	A	2: 160,557,643 (GRCm39)	L575Q	probably damaging	Het
Utrn	A	G	10: 12,585,708 (GRCm39)		probably null	Het
Vps13b	G	A	15: 35,877,723 (GRCm39)	G2899E	probably benign	Het
Wipi2	T	A	5: 142,643,963 (GRCm39)	L115Q	probably damaging	Het
Zbtb7c	A	C	18: 76,270,596 (GRCm39)	E228A	probably damaging	Het
Zfp26	T	C	9: 20,353,487 (GRCm39)	T101A	probably benign	Het
Zfp593	A	T	4: 133,972,394 (GRCm39)		probably null	Het
Zfp646	G	A	7: 127,482,292 (GRCm39)	G1490S	probably benign	Het
Zfp948	G	A	17: 21,805,069 (GRCm39)	V20M	probably damaging	Het
Zranb3	A	T	1: 127,945,293 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- GCTCACTTCTCAGGAATAGACACC -3'
(R):5'- AGCTCTATCTGTGTGGCCTC -3'

Sequencing Primer
(F):5'- CCACAGTAGTCCAATGTAATGAATAG -3'
(R):5'- CTCCTCTTGAGAACCATGGGTG -3'

Posted On

2014-06-23