Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02267:Usp28'

286964

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 #

IGL02267

Quality Score

Status

Chromosome

Chromosomal Location

48985375-49042517 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49023965 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 449 (V449A)

Ref Sequence

ENSEMBL: ENSMUSP00000047467 (fasta)

Gene Model

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

AlphaFold

Q5I043

Predicted Effect

probably damaging
Transcript: ENSMUST00000047349
AA Change: V449A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047467
Gene: ENSMUSG00000032267
AA Change: V449A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215378

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215850

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215856
AA Change: V72A

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,792,678	Q929R	probably benign	Het
Aplf	A	T	6: 87,658,964	D122E	probably damaging	Het
Atp2a3	T	A	11: 72,987,984	L874Q	probably damaging	Het
Atp2b2	A	T	6: 113,793,730	L406Q	probably damaging	Het
Atp6v1b1	A	G	6: 83,756,909	D374G	probably benign	Het
Bcas1	T	A	2: 170,378,788	R239*	probably null	Het
Bhmt2	A	G	13: 93,669,346	V56A	probably damaging	Het
Cage1	T	C	13: 38,023,257	E204G	probably damaging	Het
Ccdc157	G	A	11: 4,144,035	A532V	probably benign	Het
Cd300lb	G	A	11: 114,928,477	R109*	probably null	Het
Clca4c-ps	T	C	3: 144,879,755		noncoding transcript	Het
Ctnna3	G	T	10: 64,945,998	V747F	probably benign	Het
Cyp2c29	A	T	19: 39,330,422	I488F	probably benign	Het
Cyp3a25	T	C	5: 145,998,552	M85V	possibly damaging	Het
Dnah7b	T	A	1: 46,226,930	Y2220N	probably damaging	Het
Espl1	A	G	15: 102,315,664	I1217V	probably benign	Het
Exoc2	A	G	13: 30,815,321	S918P	probably benign	Het
Fer1l4	T	A	2: 156,031,252	I1303F	possibly damaging	Het
Gm28047	A	T	15: 102,547,227	I234K	probably damaging	Het
Gm4951	T	G	18: 60,246,398	V335G	probably damaging	Het
Gpcpd1	A	G	2: 132,568,710	V19A	probably damaging	Het
Gprin3	A	G	6: 59,354,473	V283A	probably benign	Het
Grb14	A	G	2: 64,953,616	Y56H	probably damaging	Het
Greb1	A	G	12: 16,717,208	F331S	probably benign	Het
Jkamp	A	G	12: 72,094,817	Y198C	probably damaging	Het
Klk1b11	G	T	7: 43,999,741	C234F	probably damaging	Het
Nacad	T	C	11: 6,602,649	T181A	probably benign	Het
Olfr165	A	T	16: 19,407,164	L285Q	possibly damaging	Het
Olfr382	A	G	11: 73,516,549	S217P	probably benign	Het
Olfr987	T	A	2: 85,331,121	Y259F	probably damaging	Het
Pitpnm3	A	T	11: 72,071,448	I227N	probably benign	Het
Pnn	A	G	12: 59,070,209	E189G	probably damaging	Het
Pnpla2	C	A	7: 141,458,209	P197T	probably damaging	Het
Pnpla6	A	G	8: 3,517,327	T62A	probably benign	Het
Ptprq	G	T	10: 107,646,558	D1051E	probably damaging	Het
Rag2	C	T	2: 101,630,031	R229C	probably damaging	Het
Serinc1	A	T	10: 57,523,108	I196N	probably damaging	Het
Slc26a4	C	T	12: 31,528,854		probably benign	Het
Slc26a9	T	C	1: 131,752,845	C43R	probably damaging	Het
Slc2a3	A	T	6: 122,739,972	Y44N	probably benign	Het
Smad5	T	G	13: 56,735,790		probably benign	Het
Sugct	C	A	13: 17,644,865	V132F	possibly damaging	Het
Supt6	T	C	11: 78,226,204	E568G	possibly damaging	Het
Tfpt	T	C	7: 3,628,983	T43A	probably damaging	Het
Timp4	A	T	6: 115,247,279	V143E	possibly damaging	Het
Tns1	T	C	1: 73,992,131	D275G	possibly damaging	Het
Trib1	A	G	15: 59,651,600	E161G	probably damaging	Het
Trpc7	A	T	13: 56,860,930	L308Q	probably damaging	Het
Ush1c	A	T	7: 46,209,298	V522E	possibly damaging	Het
Vmn1r82	A	G	7: 12,305,346	Y64C	probably damaging	Het
Wwox	G	A	8: 114,712,065	M290I	probably benign	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
IGL02472:Usp28	APN	9	49037769	missense	possibly damaging	0.95
IGL02675:Usp28	APN	9	49039091	missense	possibly damaging	0.81
IGL02982:Usp28	APN	9	49018439	missense	probably benign	0.00
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

2015-04-16