Mutagenetix > Incidental Mutation

Incidental Mutation 'R9555:Usp28'

720713

Institutional Source

Beutler Lab

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 #

R9555 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48896675-48953817 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48952736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1015 (I1015F)

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: I1015F

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000047467
Gene: ENSMUSG00000032267
AA Change: I1015F

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

possibly damaging
Transcript: ENSMUST00000213874
AA Change: I990F

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215856
AA Change: I662F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

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
4930453N24Rik	A	G	16: 64,586,947 (GRCm39)	V259A	probably benign	Het
Abcd4	T	C	12: 84,661,949 (GRCm39)	I63V	probably benign	Het
Agps	C	A	2: 75,683,091 (GRCm39)	P139T	probably damaging	Het
B130006D01Rik	A	T	11: 95,616,956 (GRCm39)	H27L	unknown	Het
BC024139	A	G	15: 76,005,359 (GRCm39)	V501A	possibly damaging	Het
Cacul1	A	T	19: 60,533,887 (GRCm39)	Y238*	probably null	Het
Cep55	T	C	19: 38,059,592 (GRCm39)		probably null	Het
Csf1r	T	A	18: 61,243,473 (GRCm39)	I163N	possibly damaging	Het
Ddx3y	G	T	Y: 1,265,895 (GRCm39)	D367E	probably benign	Het
Ecpas	T	A	4: 58,879,083 (GRCm39)	I69L	possibly damaging	Het
Epb41l4a	A	G	18: 34,009,966 (GRCm39)	V213A	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Klrb1a	T	C	6: 128,595,427 (GRCm39)	E142G	probably damaging	Het
Lamb3	A	T	1: 193,011,113 (GRCm39)	I369F	possibly damaging	Het
Lig1	T	C	7: 13,025,400 (GRCm39)	V254A	probably benign	Het
Lrp1b	T	A	2: 40,741,693 (GRCm39)	D3192V		Het
Lrp1b	T	C	2: 40,748,438 (GRCm39)	D3134G		Het
Map1s	T	A	8: 71,367,236 (GRCm39)	S714T	probably benign	Het
Marchf2	A	G	17: 33,922,129 (GRCm39)	L77P	probably damaging	Het
Nek8	A	G	11: 78,067,390 (GRCm39)	F15L	probably benign	Het
Or1s2	T	A	19: 13,758,360 (GRCm39)	I126N	probably damaging	Het
Pdzrn4	C	T	15: 92,297,703 (GRCm39)	R223C	probably damaging	Het
Per1	T	A	11: 68,995,574 (GRCm39)	V718D	probably benign	Het
Pik3ca	A	G	3: 32,505,916 (GRCm39)	H676R	probably damaging	Het
Pla2g4e	C	A	2: 120,075,400 (GRCm39)		probably benign	Het
Proser1	A	T	3: 53,378,876 (GRCm39)	I103F	possibly damaging	Het
Pyroxd1	G	A	6: 142,300,421 (GRCm39)	A184T	possibly damaging	Het
Rin2	C	T	2: 145,718,415 (GRCm39)	Q632*	probably null	Het
Serpinb12	C	T	1: 106,884,345 (GRCm39)	H364Y	probably damaging	Het
Sfxn3	G	A	19: 45,038,211 (GRCm39)	E64K	probably benign	Het
Slc38a1	C	T	15: 96,486,860 (GRCm39)	V199M	possibly damaging	Het
Tep1	A	G	14: 51,105,888 (GRCm39)	I44T	possibly damaging	Het
Trip13	T	A	13: 74,084,252 (GRCm39)	T78S	probably benign	Het
Trmt11	T	C	10: 30,470,150 (GRCm39)	D58G	possibly damaging	Het
Vcan	T	C	13: 89,839,659 (GRCm39)	T1962A		Het
Vmn2r100	T	A	17: 19,743,857 (GRCm39)	S507T	probably benign	Het
Vmn2r91	C	T	17: 18,325,792 (GRCm39)	P137S	possibly damaging	Het
Zfp84	G	T	7: 29,476,102 (GRCm39)	V265F	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
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
Z1176:Usp28	UTSW	9	48,947,225 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCTTAGCTGCAGCAGGATGC -3'
(R):5'- TGAATCTCGCTCAGACACCC -3'

Sequencing Primer
(F):5'- CAGGATGCCTGCTGTTGAG -3'
(R):5'- TGTCCAGGGAAATCTGTCAC -3'

Posted On

2022-08-09