Mutagenetix > Incidental Mutation

Incidental Mutation 'R6736:Usp16'

528464

Institutional Source

Beutler Lab

Gene Symbol

Usp16

Ensembl Gene

ENSMUSG00000025616

Gene Name

ubiquitin specific peptidase 16

Synonyms

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

MMRRC Submission

044854-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6736 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87251833-87280403 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 87267285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 225 (V225G)

Ref Sequence

ENSEMBL: ENSMUSP00000114058 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026710] [ENSMUST00000119504] [ENSMUST00000144759]

AlphaFold

Q99LG0

Predicted Effect

probably damaging
Transcript: ENSMUST00000026710
AA Change: V226G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000026710
Gene: ENSMUSG00000025616
AA Change: V226G

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 damaging
Transcript: ENSMUST00000119504
AA Change: V225G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114058
Gene: ENSMUSG00000025616
AA Change: V225G

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 damaging
Transcript: ENSMUST00000144759
AA Change: V225G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116323
Gene: ENSMUSG00000025616
AA Change: V225G

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: ENSMUST00000177538

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,211,100 (GRCm39)	I83T	probably benign	Het
Aadacl4	T	G	4: 144,349,909 (GRCm39)	S389A	possibly damaging	Het
Abca13	A	T	11: 9,415,058 (GRCm39)	S4042C	probably damaging	Het
Acaca	G	A	11: 84,129,664 (GRCm39)	V340I	probably benign	Het
Acox3	T	A	5: 35,746,198 (GRCm39)		probably null	Het
Acsl6	A	C	11: 54,215,992 (GRCm39)	E124A	probably damaging	Het
Adamtsl1	T	A	4: 86,260,484 (GRCm39)	H898Q	probably damaging	Het
Agl	A	G	3: 116,575,329 (GRCm39)	S603P	probably damaging	Het
Apobec1	A	T	6: 122,558,634 (GRCm39)	M31K	probably null	Het
Astn1	T	C	1: 158,338,718 (GRCm39)		probably null	Het
Atp8a1	G	T	5: 67,824,960 (GRCm39)	D790E	probably damaging	Het
Bahd1	T	G	2: 118,746,456 (GRCm39)	M25R	possibly damaging	Het
BC034090	A	T	1: 155,117,676 (GRCm39)	N147K	possibly damaging	Het
Bfsp2	G	T	9: 103,357,403 (GRCm39)	A8E	possibly damaging	Het
Brwd1	A	T	16: 95,869,772 (GRCm39)	I85N	probably damaging	Het
Catspere2	T	A	1: 177,845,278 (GRCm39)	Y99*	probably null	Het
Ccdc24	T	A	4: 117,727,732 (GRCm39)	N145I	possibly damaging	Het
Cdhr5	G	T	7: 140,852,444 (GRCm39)	Q141K	probably damaging	Het
Cfap46	A	G	7: 139,199,887 (GRCm39)	V1998A	possibly damaging	Het
Csmd1	T	A	8: 16,052,626 (GRCm39)	Y2166F	probably damaging	Het
Cul4a	T	G	8: 13,186,219 (GRCm39)	S474A	probably benign	Het
Cutal	A	G	2: 34,778,149 (GRCm39)	T112A	probably benign	Het
Dcaf6	A	C	1: 165,227,354 (GRCm39)	S258A	possibly damaging	Het
Dek	C	T	13: 47,252,866 (GRCm39)	V180M	probably damaging	Het
Dspp	C	A	5: 104,326,041 (GRCm39)	D801E	unknown	Het
Egflam	T	C	15: 7,249,206 (GRCm39)	T871A	probably damaging	Het
Erbin	A	T	13: 103,971,274 (GRCm39)	S781T	possibly damaging	Het
Erich6	A	T	3: 58,532,475 (GRCm39)	H377Q	probably damaging	Het
Exo5	C	A	4: 120,778,953 (GRCm39)	G304V	probably damaging	Het
Eya2	C	A	2: 165,557,957 (GRCm39)	S184R	possibly damaging	Het
Fhod1	G	A	8: 106,064,522 (GRCm39)		probably benign	Het
G6pc3	A	G	11: 102,084,496 (GRCm39)	Y302C	possibly damaging	Het
Gart	T	C	16: 91,432,995 (GRCm39)	D318G	probably benign	Het
Gm10300	T	C	4: 131,802,246 (GRCm39)		probably benign	Het
Gm11937	A	G	11: 99,500,900 (GRCm39)	V39A	probably damaging	Het
Gnas	T	C	2: 174,176,044 (GRCm39)	M60T	probably damaging	Het
Grk5	G	T	19: 60,879,064 (GRCm39)	R16L	probably damaging	Het
Hcn3	A	G	3: 89,059,981 (GRCm39)	L221P	probably damaging	Het
Hddc3	G	A	7: 79,992,944 (GRCm39)	R20Q	possibly damaging	Het
Hectd4	T	C	5: 121,415,788 (GRCm39)	Y530H	possibly damaging	Het
Igf2bp1	A	T	11: 95,863,948 (GRCm39)	H247Q	probably benign	Het
Igkv4-70	T	A	6: 69,244,912 (GRCm39)	D103V	probably damaging	Het
Itpr2	T	A	6: 146,226,668 (GRCm39)	M1359L	probably damaging	Het
Kalrn	A	G	16: 34,038,293 (GRCm39)	L1013S	probably damaging	Het
Kctd21	C	T	7: 96,997,291 (GRCm39)	R255W	probably damaging	Het
Krt18	T	A	15: 101,939,204 (GRCm39)	Y263N	probably benign	Het
Lamp5	C	G	2: 135,901,483 (GRCm39)	N102K	possibly damaging	Het
Larp1	G	A	11: 57,933,473 (GRCm39)		probably null	Het
Lmnb1	A	G	18: 56,861,541 (GRCm39)	N144S	probably damaging	Het
Lrp2	T	A	2: 69,278,555 (GRCm39)	T3933S	probably benign	Het
Lrrc34	T	C	3: 30,679,008 (GRCm39)	N363S	probably benign	Het
Lrriq1	T	C	10: 103,017,750 (GRCm39)		probably null	Het
Mafa	C	A	15: 75,619,629 (GRCm39)	G48V	unknown	Het
Mboat4	T	C	8: 34,591,675 (GRCm39)	S371P	possibly damaging	Het
Mei4	A	T	9: 81,907,677 (GRCm39)	M237L	probably benign	Het
Mfsd2a	T	C	4: 122,845,054 (GRCm39)	D219G	probably benign	Het
Msl2	A	G	9: 100,978,201 (GRCm39)	N192D	probably damaging	Het
Mycbp2	C	A	14: 103,429,003 (GRCm39)	R2358M	probably null	Het
Myh10	A	G	11: 68,636,165 (GRCm39)	T185A	probably damaging	Het
Nipsnap2	T	C	5: 129,822,352 (GRCm39)		probably null	Het
Notch1	T	C	2: 26,350,298 (GRCm39)	T2281A	probably benign	Het
Odad2	C	A	18: 7,223,586 (GRCm39)	V486F	probably damaging	Het
Or12j4	T	C	7: 140,046,800 (GRCm39)	S229P	probably damaging	Het
Or12j4	G	T	7: 140,046,834 (GRCm39)	C240F	probably damaging	Het
Or1e1c	G	T	11: 73,266,402 (GRCm39)	V276F	probably benign	Het
Or4q3	A	T	14: 50,582,905 (GRCm39)	N300K	probably damaging	Het
Or5an10	G	A	19: 12,275,936 (GRCm39)	Q187*	probably null	Het
Or5d20-ps1	C	A	2: 87,931,947 (GRCm39)	C128F	probably benign	Het
Or8c17	T	A	9: 38,179,866 (GRCm39)	I19N	probably damaging	Het
Or8g30	A	G	9: 39,230,089 (GRCm39)	S274P	probably damaging	Het
Oxct1	T	A	15: 4,121,899 (GRCm39)	S283T	probably benign	Het
Pcnx2	G	T	8: 126,479,056 (GRCm39)		probably null	Het
Piwil4	A	G	9: 14,627,119 (GRCm39)	F424L	probably benign	Het
Pkhd1l1	T	C	15: 44,421,336 (GRCm39)	S3035P	probably damaging	Het
Psmc2	T	A	5: 22,005,574 (GRCm39)	D218E	probably damaging	Het
Ptpn7	C	T	1: 135,066,974 (GRCm39)	P277L	probably benign	Het
Rgs12	A	G	5: 35,180,436 (GRCm39)	K27E	probably damaging	Het
Rp1l1	G	T	14: 64,267,173 (GRCm39)	A920S	possibly damaging	Het
Rsbn1l	A	T	5: 21,113,222 (GRCm39)	H433Q	probably benign	Het
Safb	C	A	17: 56,913,023 (GRCm39)	P913Q	possibly damaging	Het
Sema7a	G	A	9: 57,867,854 (GRCm39)	V477M	probably damaging	Het
Serpina16	T	A	12: 103,635,191 (GRCm39)	T408S	possibly damaging	Het
Six5	G	A	7: 18,828,916 (GRCm39)	V119M	possibly damaging	Het
Slc6a16	C	T	7: 44,908,452 (GRCm39)	P11S	possibly damaging	Het
Smg1	A	G	7: 117,756,389 (GRCm39)		probably benign	Het
Sntg1	T	A	1: 8,515,274 (GRCm39)	I420F	probably benign	Het
Sptb	T	C	12: 76,659,954 (GRCm39)	D982G	possibly damaging	Het
Stag3	T	A	5: 138,299,761 (GRCm39)	F891I	probably damaging	Het
Sugp1	A	G	8: 70,511,953 (GRCm39)	E183G	probably benign	Het
Taf1d	T	C	9: 15,219,119 (GRCm39)		probably null	Het
Tapbp	T	C	17: 34,138,931 (GRCm39)	S33P	possibly damaging	Het
Ubap2	CT	CTTGCCCCGGT	4: 41,227,224 (GRCm39)		probably benign	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210 (GRCm39)		probably benign	Het
Ubash3a	A	G	17: 31,450,389 (GRCm39)	T355A	probably benign	Het
Utrn	A	G	10: 12,497,047 (GRCm39)	V2454A	probably benign	Het
Vmn1r191	G	T	13: 22,363,720 (GRCm39)	F11L	probably benign	Het
Vmn2r117	A	T	17: 23,697,282 (GRCm39)	C137S	probably damaging	Het
Zfp1002	T	A	2: 150,097,198 (GRCm39)	Y77F	possibly damaging	Het
Zfp143	T	C	7: 109,691,021 (GRCm39)	M524T	probably damaging	Het
Zfp599	A	G	9: 22,161,140 (GRCm39)	C342R	probably damaging	Het
Zfp777	T	G	6: 48,001,790 (GRCm39)	K811Q	probably damaging	Het
Zfp870	T	A	17: 33,102,570 (GRCm39)	H254L	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
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
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'- TCTCCTAGGTAGAGATCGCAG -3'
(R):5'- AAATCTGGCTCAGCATGCTG -3'

Sequencing Primer
(F):5'- ATCGCAGAGACGCAGTGTTG -3'
(R):5'- GCCTTTAATCCCAGTACTCATAAGG -3'

Posted On

2018-07-24