Mutagenetix > Incidental Mutations

Incidental Mutation 'R6736:Usp16'

528464

Institutional Source

Beutler Lab

Gene Symbol

Usp16

Ensembl Gene

ENSMUSG00000025616

Gene Name

ubiquitin specific peptidase 16

Synonyms

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6736 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87454703-87483517 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 87470397 bp

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]

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: 8,992,268	I83T	probably benign	Het
Aadacl4	T	G	4: 144,623,339	S389A	possibly damaging	Het
Abca13	A	T	11: 9,465,058	S4042C	probably damaging	Het
Acaca	G	A	11: 84,238,838	V340I	probably benign	Het
Acox3	T	A	5: 35,588,854		probably null	Het
Acsl6	A	C	11: 54,325,166	E124A	probably damaging	Het
Adamtsl1	T	A	4: 86,342,247	H898Q	probably damaging	Het
Agl	A	G	3: 116,781,680	S603P	probably damaging	Het
Apobec1	A	T	6: 122,581,675	M31K	probably null	Het
Armc4	C	A	18: 7,223,586	V486F	probably damaging	Het
Astn1	T	C	1: 158,511,148		probably null	Het
Atp8a1	G	T	5: 67,667,617	D790E	probably damaging	Het
Bahd1	T	G	2: 118,915,975	M25R	possibly damaging	Het
BC034090	A	T	1: 155,241,930	N147K	possibly damaging	Het
Bfsp2	G	T	9: 103,480,204	A8E	possibly damaging	Het
Brwd1	A	T	16: 96,068,572	I85N	probably damaging	Het
Ccdc24	T	A	4: 117,870,535	N145I	possibly damaging	Het
Cdhr5	G	T	7: 141,272,531	Q141K	probably damaging	Het
Cfap46	A	G	7: 139,619,971	V1998A	possibly damaging	Het
Csmd1	T	A	8: 16,002,626	Y2166F	probably damaging	Het
Cul4a	T	G	8: 13,136,219	S474A	probably benign	Het
Cutal	A	G	2: 34,888,137	T112A	probably benign	Het
Dcaf6	A	C	1: 165,399,785	S258A	possibly damaging	Het
Dek	C	T	13: 47,099,390	V180M	probably damaging	Het
Dspp	C	A	5: 104,178,175	D801E	unknown	Het
Egflam	T	C	15: 7,219,725	T871A	probably damaging	Het
Erbin	A	T	13: 103,834,766	S781T	possibly damaging	Het
Erich6	A	T	3: 58,625,054	H377Q	probably damaging	Het
Exo5	C	A	4: 120,921,756	G304V	probably damaging	Het
Eya2	C	A	2: 165,716,037	S184R	possibly damaging	Het
Fhod1	G	A	8: 105,337,890		probably benign	Het
G6pc3	A	G	11: 102,193,670	Y302C	possibly damaging	Het
Gart	T	C	16: 91,636,107	D318G	probably benign	Het
Gm10300	T	C	4: 132,074,935		probably benign	Het
Gm11937	A	G	11: 99,610,074	V39A	probably damaging	Het
Gm16432	T	A	1: 178,017,712	Y99*	probably null	Het
Gm21994	T	A	2: 150,255,278	Y77F	possibly damaging	Het
Gnas	T	C	2: 174,334,251	M60T	probably damaging	Het
Grk5	G	T	19: 60,890,626	R16L	probably damaging	Het
Hcn3	A	G	3: 89,152,674	L221P	probably damaging	Het
Hddc3	G	A	7: 80,343,196	R20Q	possibly damaging	Het
Hectd4	T	C	5: 121,277,725	Y530H	possibly damaging	Het
Igf2bp1	A	T	11: 95,973,122	H247Q	probably benign	Het
Igkv4-70	T	A	6: 69,267,928	D103V	probably damaging	Het
Itpr2	T	A	6: 146,325,170	M1359L	probably damaging	Het
Kalrn	A	G	16: 34,217,923	L1013S	probably damaging	Het
Kctd21	C	T	7: 97,348,084	R255W	probably damaging	Het
Krt18	T	A	15: 102,030,769	Y263N	probably benign	Het
Lamp5	C	G	2: 136,059,563	N102K	possibly damaging	Het
Larp1	G	A	11: 58,042,647		probably null	Het
Lmnb1	A	G	18: 56,728,469	N144S	probably damaging	Het
Lrp2	T	A	2: 69,448,211	T3933S	probably benign	Het
Lrrc34	T	C	3: 30,624,859	N363S	probably benign	Het
Lrriq1	T	C	10: 103,181,889		probably null	Het
Mafa	C	A	15: 75,747,780	G48V	unknown	Het
Mboat4	T	C	8: 34,124,521	S371P	possibly damaging	Het
Mei4	A	T	9: 82,025,624	M237L	probably benign	Het
Mfsd2a	T	C	4: 122,951,261	D219G	probably benign	Het
Msl2	A	G	9: 101,101,002	N192D	probably damaging	Het
Mycbp2	C	A	14: 103,191,567	R2358M	probably null	Het
Myh10	A	G	11: 68,745,339	T185A	probably damaging	Het
Nipsnap2	T	C	5: 129,745,288		probably null	Het
Notch1	T	C	2: 26,460,286	T2281A	probably benign	Het
Olfr1165-ps	C	A	2: 88,101,603	C128F	probably benign	Het
Olfr1436	G	A	19: 12,298,572	Q187*	probably null	Het
Olfr376	G	T	11: 73,375,576	V276F	probably benign	Het
Olfr533	T	C	7: 140,466,887	S229P	probably damaging	Het
Olfr533	G	T	7: 140,466,921	C240F	probably damaging	Het
Olfr735	A	T	14: 50,345,448	N300K	probably damaging	Het
Olfr895	T	A	9: 38,268,570	I19N	probably damaging	Het
Olfr948	A	G	9: 39,318,793	S274P	probably damaging	Het
Oxct1	T	A	15: 4,092,417	S283T	probably benign	Het
Pcnx2	G	T	8: 125,752,317		probably null	Het
Piwil4	A	G	9: 14,715,823	F424L	probably benign	Het
Pkhd1l1	T	C	15: 44,557,940	S3035P	probably damaging	Het
Psmc2	T	A	5: 21,800,576	D218E	probably damaging	Het
Ptpn7	C	T	1: 135,139,236	P277L	probably benign	Het
Rgs12	A	G	5: 35,023,092	K27E	probably damaging	Het
Rp1l1	G	T	14: 64,029,724	A920S	possibly damaging	Het
Rsbn1l	A	T	5: 20,908,224	H433Q	probably benign	Het
Safb	C	A	17: 56,606,023	P913Q	possibly damaging	Het
Sema7a	G	A	9: 57,960,571	V477M	probably damaging	Het
Serpina16	T	A	12: 103,668,932	T408S	possibly damaging	Het
Six5	G	A	7: 19,094,991	V119M	possibly damaging	Het
Slc6a16	C	T	7: 45,259,028	P11S	possibly damaging	Het
Smg1	A	G	7: 118,157,166		probably benign	Het
Sntg1	T	A	1: 8,445,050	I420F	probably benign	Het
Sptb	T	C	12: 76,613,180	D982G	possibly damaging	Het
Stag3	T	A	5: 138,301,499	F891I	probably damaging	Het
Sugp1	A	G	8: 70,059,303	E183G	probably benign	Het
Taf1d	T	C	9: 15,307,823		probably null	Het
Tapbp	T	C	17: 33,919,957	S33P	possibly damaging	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210		probably benign	Het
Ubap2	CT	CTTGCCCCGGT	4: 41,227,224		probably benign	Het
Ubash3a	A	G	17: 31,231,415	T355A	probably benign	Het
Utrn	A	G	10: 12,621,303	V2454A	probably benign	Het
Vmn1r191	G	T	13: 22,179,550	F11L	probably benign	Het
Vmn2r117	A	T	17: 23,478,308	C137S	probably damaging	Het
Zfp143	T	C	7: 110,091,814	M524T	probably damaging	Het
Zfp599	A	G	9: 22,249,844	C342R	probably damaging	Het
Zfp777	T	G	6: 48,024,856	K811Q	probably damaging	Het
Zfp870	T	A	17: 32,883,596	H254L	probably benign	Het

Other mutations in Usp16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01322:Usp16	APN	16	87466276	missense	possibly damaging	0.95
IGL01589:Usp16	APN	16	87479183	missense	probably benign	0.00
IGL02570:Usp16	APN	16	87480893	missense	probably damaging	1.00
IGL02736:Usp16	APN	16	87464835	missense	possibly damaging	0.75
IGL02973:Usp16	APN	16	87479739	missense	probably damaging	1.00
IGL03066:Usp16	APN	16	87471833	missense	probably damaging	1.00
PIT1430001:Usp16	UTSW	16	87473132	missense	probably damaging	0.99
R0395:Usp16	UTSW	16	87475446	missense	probably damaging	1.00
R0619:Usp16	UTSW	16	87472164	missense	probably benign	0.02
R1146:Usp16	UTSW	16	87474648	missense	possibly damaging	0.93
R1146:Usp16	UTSW	16	87474648	missense	possibly damaging	0.93
R1549:Usp16	UTSW	16	87464834	missense	probably damaging	1.00
R1557:Usp16	UTSW	16	87462142	critical splice donor site	probably null
R1776:Usp16	UTSW	16	87479316	missense	probably damaging	0.97
R1818:Usp16	UTSW	16	87479132	nonsense	probably null
R1835:Usp16	UTSW	16	87480907	missense	probably damaging	1.00
R2022:Usp16	UTSW	16	87473126	missense	probably damaging	1.00
R2146:Usp16	UTSW	16	87473187	critical splice donor site	probably null
R2432:Usp16	UTSW	16	87466358	critical splice donor site	probably null
R3110:Usp16	UTSW	16	87471848	splice site	probably null
R3112:Usp16	UTSW	16	87471848	splice site	probably null
R3771:Usp16	UTSW	16	87458683	start codon destroyed	probably null	1.00
R4353:Usp16	UTSW	16	87470354	missense	probably damaging	1.00
R4959:Usp16	UTSW	16	87480914	missense	probably damaging	0.99
R4973:Usp16	UTSW	16	87480914	missense	probably damaging	0.99
R5276:Usp16	UTSW	16	87470451	critical splice donor site	probably null
R5753:Usp16	UTSW	16	87482899	missense	probably damaging	0.98
R6230:Usp16	UTSW	16	87464798	missense	possibly damaging	0.48
R6267:Usp16	UTSW	16	87483191	missense	probably benign	0.00
R6473:Usp16	UTSW	16	87483135	missense	probably benign	0.00
R7006:Usp16	UTSW	16	87471836	missense	probably damaging	1.00
R7012:Usp16	UTSW	16	87458744	critical splice donor site	probably null
R7040:Usp16	UTSW	16	87480929	missense	probably damaging	1.00
R7136:Usp16	UTSW	16	87483171	missense	probably benign
R7295:Usp16	UTSW	16	87472089	missense	probably benign	0.44
R7434:Usp16	UTSW	16	87479319	nonsense	probably null
R7497:Usp16	UTSW	16	87466286	nonsense	probably null
R7571:Usp16	UTSW	16	87464835	missense	possibly damaging	0.75
R7576:Usp16	UTSW	16	87479300	missense	probably benign	0.34
R7624:Usp16	UTSW	16	87476805	missense	probably benign	0.23
R7889:Usp16	UTSW	16	87474584	missense	probably benign	0.44
R8499:Usp16	UTSW	16	87474648	missense	possibly damaging	0.93
R8779:Usp16	UTSW	16	87479409	missense	probably benign	0.00
X0061:Usp16	UTSW	16	87479457	missense	probably benign	0.01
X0064:Usp16	UTSW	16	87471725	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