Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02982:Usp28'

406579

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp28

Ensembl Gene

ENSMUSG00000032267

Gene Name

ubiquitin specific peptidase 28

Synonyms

9830148O20Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02982

Quality Score

Status

Chromosome

Chromosomal Location

48985375-49042517 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49018439 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 43 (I43V)

Ref Sequence

ENSEMBL: ENSMUSP00000150707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047349] [ENSMUST00000213874] [ENSMUST00000215856]

AlphaFold

Q5I043

Predicted Effect

probably benign
Transcript: ENSMUST00000047349
AA Change: I420V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000047467
Gene: ENSMUSG00000032267
AA Change: I420V

Domain	Start	End	E-Value	Type
UIM	97	116	3.1e-3	SMART
Pfam:UCH	161	652	5.4e-52	PFAM
Pfam:UCH_1	162	626	2e-11	PFAM
low complexity region	695	705	N/A	INTRINSIC
low complexity region	713	730	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213874
AA Change: I420V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215378

Predicted Effect

probably benign
Transcript: ENSMUST00000215856
AA Change: I43V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a deubiquitinase involved in the DNA damage pathway and DNA damage-induced apoptosis. Overexpression of this gene is seen in several cancers. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and exhibit slightly decreased spleen weight and splenocyte number but show neither major signaling defects in DNA damage response nor developmental defects indicative of impaired double-strand break metabolism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	G	T	8: 24,804,431	A384D	probably benign	Het
Adamts19	T	A	18: 59,024,518	C961S	probably damaging	Het
Agbl2	G	A	2: 90,805,815	C565Y	probably damaging	Het
Aox3	G	A	1: 58,127,687	E190K	probably benign	Het
Arf2	T	G	11: 103,981,776	D74E	probably damaging	Het
Bptf	T	G	11: 107,076,674	D960A	probably damaging	Het
Ccdc180	G	T	4: 45,903,840		probably benign	Het
Ces1a	A	G	8: 93,044,975	F65L	probably damaging	Het
Def8	T	C	8: 123,456,539		probably benign	Het
Fat4	T	C	3: 38,890,843	L1295P	probably damaging	Het
Filip1l	A	G	16: 57,572,232	H1061R	probably damaging	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gldc	A	G	19: 30,145,145		probably null	Het
Gm597	T	C	1: 28,778,054	H299R	probably damaging	Het
Golgb1	A	C	16: 36,925,810	D2917A	probably damaging	Het
Gpc5	G	A	14: 115,369,988	C334Y	probably damaging	Het
Gpsm1	T	A	2: 26,324,859	L252Q	probably damaging	Het
Iars	C	T	13: 49,709,709	R546C	probably benign	Het
Kbtbd8	G	T	6: 95,126,566	V399L	probably benign	Het
Kcnd2	A	T	6: 21,217,149	D284V	probably damaging	Het
Kcnj6	T	C	16: 94,832,517	K227R	possibly damaging	Het
Lhx9	A	T	1: 138,838,611	H155Q	probably damaging	Het
Mcm9	A	G	10: 53,625,826	V221A	probably damaging	Het
Myo9a	A	T	9: 59,908,208	K2237*	probably null	Het
Ntf3	A	T	6: 126,102,377	D55E	probably damaging	Het
Olfr1229	G	T	2: 89,283,109	T29K	probably damaging	Het
Olfr61	A	T	7: 140,637,952	I84F	probably benign	Het
Plek	T	A	11: 16,981,826	I342F	probably damaging	Het
Polrmt	A	G	10: 79,738,348	Y853H	probably damaging	Het
Psg29	A	G	7: 17,211,707	T401A	probably damaging	Het
Ptprb	A	G	10: 116,322,628	T822A	probably benign	Het
Ptprq	A	C	10: 107,586,684	F1616V	probably damaging	Het
Rpe65	T	A	3: 159,600,361	V19E	probably damaging	Het
Scamp2	G	A	9: 57,581,549	A178T	probably benign	Het
Spta1	A	G	1: 174,187,288	I445V	probably benign	Het
Tas2r135	A	G	6: 42,406,253	E242G	probably benign	Het
Ttc22	T	C	4: 106,638,586	V379A	probably damaging	Het
Unc5d	C	T	8: 28,652,853	G857E	probably damaging	Het
Vmn2r68	A	T	7: 85,234,441	M152K	probably benign	Het
Wrn	C	T	8: 33,343,066	G133R	probably damaging	Het
Zfyve26	G	A	12: 79,263,870	T187M	probably damaging	Het
Zic2	A	G	14: 122,478,567	E367G	probably damaging	Het

Other mutations in Usp28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Usp28	APN	9	49028163	missense	probably benign	0.01
IGL01105:Usp28	APN	9	49010250	missense	probably damaging	1.00
IGL01124:Usp28	APN	9	49037213	missense	probably damaging	1.00
IGL01304:Usp28	APN	9	49026819	missense	probably damaging	0.99
IGL01527:Usp28	APN	9	49025873	missense	probably benign	0.02
IGL01859:Usp28	APN	9	49024021	nonsense	probably null
IGL01860:Usp28	APN	9	49032243	nonsense	probably null
IGL02047:Usp28	APN	9	49035641	missense	probably damaging	0.99
IGL02188:Usp28	APN	9	49024009	missense	probably benign	0.00
IGL02267:Usp28	APN	9	49023965	missense	probably damaging	1.00
IGL02472:Usp28	APN	9	49037769	missense	possibly damaging	0.95
IGL02675:Usp28	APN	9	49039091	missense	possibly damaging	0.81
IGL03105:Usp28	APN	9	49039055	missense	probably damaging	0.99
R0100:Usp28	UTSW	9	49035932	missense	probably damaging	1.00
R0114:Usp28	UTSW	9	49039023	missense	probably benign	0.00
R0196:Usp28	UTSW	9	49028278	missense	probably damaging	0.96
R0206:Usp28	UTSW	9	49028269	missense	probably damaging	1.00
R0349:Usp28	UTSW	9	49010281	nonsense	probably null
R0379:Usp28	UTSW	9	49024067	missense	possibly damaging	0.58
R0454:Usp28	UTSW	9	49039101	missense	possibly damaging	0.94
R0479:Usp28	UTSW	9	49037213	missense	probably damaging	1.00
R0540:Usp28	UTSW	9	49024060	missense	probably benign
R0726:Usp28	UTSW	9	49003869	missense	probably damaging	1.00
R0835:Usp28	UTSW	9	49001524	missense	probably damaging	1.00
R0928:Usp28	UTSW	9	49030891	missense	possibly damaging	0.60
R1271:Usp28	UTSW	9	49035961	critical splice donor site	probably null
R1534:Usp28	UTSW	9	48985506	missense	possibly damaging	0.92
R1539:Usp28	UTSW	9	49037796	missense	probably benign	0.07
R1687:Usp28	UTSW	9	49024017	missense	probably benign	0.00
R1867:Usp28	UTSW	9	49009194	missense	probably benign	0.00
R1868:Usp28	UTSW	9	49016707	missense	probably damaging	1.00
R1884:Usp28	UTSW	9	49035947	missense	probably damaging	1.00
R2029:Usp28	UTSW	9	48985503	missense	probably benign	0.22
R2046:Usp28	UTSW	9	49039075	missense	probably damaging	1.00
R2379:Usp28	UTSW	9	49003095	missense	probably null	0.94
R2404:Usp28	UTSW	9	49037258	critical splice donor site	probably null
R3196:Usp28	UTSW	9	49025825	missense	probably benign	0.03
R3831:Usp28	UTSW	9	49035638	missense	probably benign	0.00
R3922:Usp28	UTSW	9	49030923	critical splice donor site	probably null
R3924:Usp28	UTSW	9	49030923	critical splice donor site	probably null
R3926:Usp28	UTSW	9	49030923	critical splice donor site	probably null
R3943:Usp28	UTSW	9	49000366	missense	probably benign	0.12
R4834:Usp28	UTSW	9	49001536	missense	probably damaging	1.00
R5041:Usp28	UTSW	9	49037773	missense	probably benign
R5186:Usp28	UTSW	9	49010250	missense	probably damaging	1.00
R5308:Usp28	UTSW	9	49037201	missense	probably damaging	1.00
R5870:Usp28	UTSW	9	49025985	nonsense	probably null
R6838:Usp28	UTSW	9	49000430	critical splice donor site	probably null
R6959:Usp28	UTSW	9	49001542	missense	probably damaging	1.00
R7058:Usp28	UTSW	9	49039156	missense	probably damaging	1.00
R7348:Usp28	UTSW	9	49030877	missense	probably benign	0.19
R7766:Usp28	UTSW	9	49035883	missense	probably damaging	1.00
R7814:Usp28	UTSW	9	49003918	missense	probably benign	0.01
R7828:Usp28	UTSW	9	49003902	missense	possibly damaging	0.95
R8167:Usp28	UTSW	9	49037848	missense	probably damaging	0.99
R8226:Usp28	UTSW	9	49015397	splice site	probably null
R8273:Usp28	UTSW	9	49026882	missense	probably damaging	1.00
R8972:Usp28	UTSW	9	49037824	missense	probably null	0.83
R8998:Usp28	UTSW	9	49037839	missense	probably benign
R9312:Usp28	UTSW	9	49015139	nonsense	probably null
Z1176:Usp28	UTSW	9	49035925	missense	probably damaging	0.99

Posted On

2016-08-02