Mutagenetix > Incidental Mutation

Incidental Mutation 'R1271:Usp28'

151313

Institutional Source

Beutler Lab

Gene Symbol

Usp28

Ensembl Gene

ENSMUSG00000032267

Gene Name

ubiquitin specific peptidase 28

Synonyms

9830148O20Rik

MMRRC Submission

039337-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1271 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48896675-48953817 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 48947261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150707 (fasta)

Gene Model

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

AlphaFold

Q5I043

Predicted Effect

probably null
Transcript: ENSMUST00000047349

SMART Domains

Protein: ENSMUSP00000047467
Gene: ENSMUSG00000032267

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

noncoding transcript
Transcript: ENSMUST00000213457

Predicted Effect

probably null
Transcript: ENSMUST00000213874

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215118

Predicted Effect

probably null
Transcript: ENSMUST00000215856

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216657

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.3%

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	A	T	1: 52,964,493 (GRCm39)	D78E	possibly damaging	Het
4930447C04Rik	A	T	12: 72,939,657 (GRCm39)	F419I	possibly damaging	Het
Abca14	T	C	7: 119,924,340 (GRCm39)	V1664A	probably damaging	Het
Acadvl	A	G	11: 69,905,526 (GRCm39)	S71P	probably damaging	Het
Adcy2	A	T	13: 68,790,617 (GRCm39)	C916S	probably damaging	Het
Atad2	T	C	15: 57,989,985 (GRCm39)	T164A	probably benign	Het
Ccdc18	A	T	5: 108,349,982 (GRCm39)	K1045*	probably null	Het
Cemip2	T	A	19: 21,801,268 (GRCm39)	I795N	possibly damaging	Het
Cfap43	C	T	19: 47,728,183 (GRCm39)	E1525K	probably benign	Het
Cfap43	G	T	19: 47,736,387 (GRCm39)	S1368Y	probably damaging	Het
Csmd3	T	A	15: 47,874,455 (GRCm39)	I610L	probably benign	Het
Des	A	T	1: 75,337,290 (GRCm39)	T77S	probably benign	Het
Fnip1	T	C	11: 54,394,123 (GRCm39)	V853A	probably benign	Het
Gabrg1	T	A	5: 70,934,487 (GRCm39)	D292V	probably damaging	Het
Gcm1	A	G	9: 77,966,859 (GRCm39)	N26S	probably benign	Het
Gpsm1	G	T	2: 26,234,684 (GRCm39)	R507L	probably damaging	Het
H2-M1	T	A	17: 36,982,137 (GRCm39)	T155S	probably benign	Het
Hapln3	T	C	7: 78,767,764 (GRCm39)	D210G	probably damaging	Het
Magel2	T	C	7: 62,030,762 (GRCm39)	L1222P	unknown	Het
Mphosph10	A	T	7: 64,039,832 (GRCm39)		probably null	Het
Mup6	A	T	4: 60,003,579 (GRCm39)		probably benign	Het
Nsmce1	T	A	7: 125,070,426 (GRCm39)	E128D	probably damaging	Het
Or4c11	T	A	2: 88,695,475 (GRCm39)	Y175*	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sorbs2	T	A	8: 46,249,004 (GRCm39)	S733T	probably damaging	Het
Stxbp5	A	T	10: 9,692,013 (GRCm39)	I377K	probably damaging	Het
Tnfsf4	T	A	1: 161,223,274 (GRCm39)	L41Q	probably damaging	Het
Tut7	A	C	13: 59,969,669 (GRCm39)	N75K	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
IGL01105:Usp28	APN	9	48,921,550 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AATGTGCCAGCCTGTTCCTGTG -3'
(R):5'- GGCCTGTGCTTCTGAACCTAAGAC -3'

Sequencing Primer
(F):5'- TGAACTCTGTCCCTCACAGA -3'
(R):5'- GGGAACTAGTTGAGTCTGGTAAC -3'

Posted On

2014-01-29