Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01105:Usp28'

51929

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp28

Ensembl Gene

ENSMUSG00000032267

Gene Name

ubiquitin specific peptidase 28

Synonyms

9830148O20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01105

Quality Score

Status

Chromosome

Chromosomal Location

48896675-48953817 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48921550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 256 (V256E)

Ref Sequence

ENSEMBL: ENSMUSP00000149207 (fasta)

Gene Model

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

AlphaFold

Q5I043

Predicted Effect

probably damaging
Transcript: ENSMUST00000047349
AA Change: V256E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047467
Gene: ENSMUSG00000032267
AA Change: V256E

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 damaging
Transcript: ENSMUST00000213874
AA Change: V256E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	T	A	11: 105,862,885 (GRCm39)	V302E	probably damaging	Het
Ahcy	T	C	2: 154,909,281 (GRCm39)	D86G	probably benign	Het
Antxr2	G	T	5: 98,152,802 (GRCm39)		probably benign	Het
Cadps2	A	G	6: 23,321,699 (GRCm39)		probably benign	Het
Cdhr4	C	T	9: 107,873,060 (GRCm39)		probably benign	Het
Cdkn2c	C	T	4: 109,518,823 (GRCm39)	V44I	probably damaging	Het
Chodl	T	C	16: 78,738,151 (GRCm39)	Y40H	probably damaging	Het
Heatr3	A	G	8: 88,888,521 (GRCm39)	D391G	probably benign	Het
Hephl1	T	C	9: 15,000,320 (GRCm39)	T311A	possibly damaging	Het
Itpr1	G	A	6: 108,358,294 (GRCm39)	S620N	probably benign	Het
Kank1	T	A	19: 25,401,680 (GRCm39)	S1096T	possibly damaging	Het
Kank3	G	A	17: 34,036,375 (GRCm39)	G81E	probably damaging	Het
Krtap9-5	A	G	11: 99,839,459 (GRCm39)	I53M	unknown	Het
Limk2	G	A	11: 3,305,475 (GRCm39)		probably benign	Het
Lrig2	G	A	3: 104,371,484 (GRCm39)	R382*	probably null	Het
Mamdc2	T	A	19: 23,308,366 (GRCm39)	D512V	probably benign	Het
Marchf1	A	T	8: 66,871,529 (GRCm39)	T353S	possibly damaging	Het
Mrc2	A	G	11: 105,219,567 (GRCm39)	D312G	probably damaging	Het
Myh9	C	T	15: 77,665,678 (GRCm39)	M627I	probably benign	Het
Nipa2	A	T	7: 55,583,193 (GRCm39)	I184N	probably damaging	Het
Npy1r	A	G	8: 67,157,428 (GRCm39)	K246R	probably benign	Het
Pank4	C	T	4: 155,056,922 (GRCm39)		probably benign	Het
Pcdh12	T	A	18: 38,408,400 (GRCm39)	E1035D	probably damaging	Het
Pias2	T	A	18: 77,220,852 (GRCm39)	D362E	probably damaging	Het
Pkd1l3	G	T	8: 110,388,873 (GRCm39)	V1872L	possibly damaging	Het
Postn	T	G	3: 54,270,131 (GRCm39)	I70S	probably damaging	Het
Ppef2	A	G	5: 92,397,055 (GRCm39)	S107P	possibly damaging	Het
Prl3c1	T	C	13: 27,386,408 (GRCm39)	V131A	probably benign	Het
Qsox2	A	G	2: 26,099,697 (GRCm39)	V609A	probably benign	Het
Rhebl1	C	A	15: 98,776,379 (GRCm39)	E139D	probably benign	Het
Ryr3	A	G	2: 112,582,150 (GRCm39)	S2848P	probably damaging	Het
Scd2	T	A	19: 44,286,497 (GRCm39)	I109N	probably benign	Het
Sim1	A	G	10: 50,857,630 (GRCm39)	H460R	probably damaging	Het
Slc35f3	C	A	8: 127,025,553 (GRCm39)	P10Q	probably damaging	Het
Slf1	T	C	13: 77,249,031 (GRCm39)		probably benign	Het
Stk10	G	T	11: 32,527,740 (GRCm39)	V163L	probably benign	Het
Tssk6	A	G	8: 70,355,462 (GRCm39)	T169A	probably benign	Het
Vmn2r77	A	T	7: 86,460,872 (GRCm39)	I733F	probably damaging	Het

Other mutations in Usp28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Usp28	APN	9	48,939,463 (GRCm39)	missense	probably benign	0.01
IGL01124:Usp28	APN	9	48,948,513 (GRCm39)	missense	probably damaging	1.00
IGL01304:Usp28	APN	9	48,938,119 (GRCm39)	missense	probably damaging	0.99
IGL01527:Usp28	APN	9	48,937,173 (GRCm39)	missense	probably benign	0.02
IGL01859:Usp28	APN	9	48,935,321 (GRCm39)	nonsense	probably null
IGL01860:Usp28	APN	9	48,943,543 (GRCm39)	nonsense	probably null
IGL02047:Usp28	APN	9	48,946,941 (GRCm39)	missense	probably damaging	0.99
IGL02188:Usp28	APN	9	48,935,309 (GRCm39)	missense	probably benign	0.00
IGL02267:Usp28	APN	9	48,935,265 (GRCm39)	missense	probably damaging	1.00
IGL02472:Usp28	APN	9	48,949,069 (GRCm39)	missense	possibly damaging	0.95
IGL02675:Usp28	APN	9	48,950,391 (GRCm39)	missense	possibly damaging	0.81
IGL02982:Usp28	APN	9	48,929,739 (GRCm39)	missense	probably benign	0.00
IGL03105:Usp28	APN	9	48,950,355 (GRCm39)	missense	probably damaging	0.99
R0100:Usp28	UTSW	9	48,947,232 (GRCm39)	missense	probably damaging	1.00
R0114:Usp28	UTSW	9	48,950,323 (GRCm39)	missense	probably benign	0.00
R0196:Usp28	UTSW	9	48,939,578 (GRCm39)	missense	probably damaging	0.96
R0206:Usp28	UTSW	9	48,939,569 (GRCm39)	missense	probably damaging	1.00
R0349:Usp28	UTSW	9	48,921,581 (GRCm39)	nonsense	probably null
R0379:Usp28	UTSW	9	48,935,367 (GRCm39)	missense	possibly damaging	0.58
R0454:Usp28	UTSW	9	48,950,401 (GRCm39)	missense	possibly damaging	0.94
R0479:Usp28	UTSW	9	48,948,513 (GRCm39)	missense	probably damaging	1.00
R0540:Usp28	UTSW	9	48,935,360 (GRCm39)	missense	probably benign
R0726:Usp28	UTSW	9	48,915,169 (GRCm39)	missense	probably damaging	1.00
R0835:Usp28	UTSW	9	48,912,824 (GRCm39)	missense	probably damaging	1.00
R0928:Usp28	UTSW	9	48,942,191 (GRCm39)	missense	possibly damaging	0.60
R1271:Usp28	UTSW	9	48,947,261 (GRCm39)	critical splice donor site	probably null
R1534:Usp28	UTSW	9	48,896,806 (GRCm39)	missense	possibly damaging	0.92
R1539:Usp28	UTSW	9	48,949,096 (GRCm39)	missense	probably benign	0.07
R1687:Usp28	UTSW	9	48,935,317 (GRCm39)	missense	probably benign	0.00
R1867:Usp28	UTSW	9	48,920,494 (GRCm39)	missense	probably benign	0.00
R1868:Usp28	UTSW	9	48,928,007 (GRCm39)	missense	probably damaging	1.00
R1884:Usp28	UTSW	9	48,947,247 (GRCm39)	missense	probably damaging	1.00
R2029:Usp28	UTSW	9	48,896,803 (GRCm39)	missense	probably benign	0.22
R2046:Usp28	UTSW	9	48,950,375 (GRCm39)	missense	probably damaging	1.00
R2379:Usp28	UTSW	9	48,914,395 (GRCm39)	missense	probably null	0.94
R2404:Usp28	UTSW	9	48,948,558 (GRCm39)	critical splice donor site	probably null
R3196:Usp28	UTSW	9	48,937,125 (GRCm39)	missense	probably benign	0.03
R3831:Usp28	UTSW	9	48,946,938 (GRCm39)	missense	probably benign	0.00
R3922:Usp28	UTSW	9	48,942,223 (GRCm39)	critical splice donor site	probably null
R3924:Usp28	UTSW	9	48,942,223 (GRCm39)	critical splice donor site	probably null
R3926:Usp28	UTSW	9	48,942,223 (GRCm39)	critical splice donor site	probably null
R3943:Usp28	UTSW	9	48,911,666 (GRCm39)	missense	probably benign	0.12
R4834:Usp28	UTSW	9	48,912,836 (GRCm39)	missense	probably damaging	1.00
R5041:Usp28	UTSW	9	48,949,073 (GRCm39)	missense	probably benign
R5186:Usp28	UTSW	9	48,921,550 (GRCm39)	missense	probably damaging	1.00
R5308:Usp28	UTSW	9	48,948,501 (GRCm39)	missense	probably damaging	1.00
R5870:Usp28	UTSW	9	48,937,285 (GRCm39)	nonsense	probably null
R6838:Usp28	UTSW	9	48,911,730 (GRCm39)	critical splice donor site	probably null
R6959:Usp28	UTSW	9	48,912,842 (GRCm39)	missense	probably damaging	1.00
R7058:Usp28	UTSW	9	48,950,456 (GRCm39)	missense	probably damaging	1.00
R7348:Usp28	UTSW	9	48,942,177 (GRCm39)	missense	probably benign	0.19
R7766:Usp28	UTSW	9	48,947,183 (GRCm39)	missense	probably damaging	1.00
R7814:Usp28	UTSW	9	48,915,218 (GRCm39)	missense	probably benign	0.01
R7828:Usp28	UTSW	9	48,915,202 (GRCm39)	missense	possibly damaging	0.95
R8167:Usp28	UTSW	9	48,949,148 (GRCm39)	missense	probably damaging	0.99
R8226:Usp28	UTSW	9	48,926,697 (GRCm39)	splice site	probably null
R8273:Usp28	UTSW	9	48,938,182 (GRCm39)	missense	probably damaging	1.00
R8972:Usp28	UTSW	9	48,949,124 (GRCm39)	missense	probably null	0.83
R8998:Usp28	UTSW	9	48,949,139 (GRCm39)	missense	probably benign
R9312:Usp28	UTSW	9	48,926,439 (GRCm39)	nonsense	probably null
R9483:Usp28	UTSW	9	48,947,037 (GRCm39)	missense	probably damaging	1.00
R9488:Usp28	UTSW	9	48,935,288 (GRCm39)	missense	probably damaging	0.97
R9524:Usp28	UTSW	9	48,947,026 (GRCm39)	missense	probably damaging	1.00
R9555:Usp28	UTSW	9	48,952,736 (GRCm39)	missense	probably damaging	0.98
Z1176:Usp28	UTSW	9	48,947,225 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-06-21