Mutagenetix > Incidental Mutation

Incidental Mutation 'R7058:Usp28'

548075

Institutional Source

Beutler Lab

Gene Symbol

Usp28

Ensembl Gene

ENSMUSG00000032267

Gene Name

ubiquitin specific peptidase 28

Synonyms

9830148O20Rik

MMRRC Submission

045155-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7058 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48896675-48953817 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48950456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 634 (Y634N)

Ref Sequence

ENSEMBL: ENSMUSP00000150707 (fasta)

Gene Model

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

AlphaFold

Q5I043

Predicted Effect

probably damaging
Transcript: ENSMUST00000047349
AA Change: Y987N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047467
Gene: ENSMUSG00000032267
AA Change: Y987N

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: Y962N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215856
AA Change: Y634N

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

Meta Mutation Damage Score

0.4092

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (87/87)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	C	7: 41,275,554 (GRCm39)	I419T	possibly damaging	Het
Afap1	T	C	5: 36,119,604 (GRCm39)	V294A	probably benign	Het
Amotl1	T	A	9: 14,486,532 (GRCm39)	Q454L	possibly damaging	Het
Ap2a1	T	C	7: 44,550,215 (GRCm39)	S961G	probably damaging	Het
Asxl3	A	G	18: 22,650,731 (GRCm39)	K907E	probably damaging	Het
BC028528	A	T	3: 95,792,323 (GRCm39)	L137I	possibly damaging	Het
Cand1	A	T	10: 119,047,659 (GRCm39)	N610K	probably benign	Het
Cat	A	G	2: 103,304,698 (GRCm39)	I109T	probably benign	Het
Ccdc18	T	C	5: 108,341,664 (GRCm39)	V853A	probably benign	Het
Chd4	C	A	6: 125,085,405 (GRCm39)	D805E	possibly damaging	Het
Cnih1	A	C	14: 47,017,652 (GRCm39)	F77V	probably damaging	Het
Cntd1	A	T	11: 101,178,252 (GRCm39)	I284F	probably damaging	Het
Col6a3	C	A	1: 90,755,759 (GRCm39)	E177*	probably null	Het
Cpxm2	T	A	7: 131,745,408 (GRCm39)	D139V	probably benign	Het
Cyp1a2	G	T	9: 57,584,525 (GRCm39)	R510S	probably damaging	Het
D2hgdh	T	C	1: 93,763,096 (GRCm39)	S294P	probably damaging	Het
Dchs1	A	G	7: 105,406,228 (GRCm39)	C2335R	probably benign	Het
Disc1	G	T	8: 125,977,724 (GRCm39)	C719F	probably damaging	Het
Dnah14	A	C	1: 181,525,614 (GRCm39)	D2180A	probably benign	Het
Dop1b	G	A	16: 93,573,878 (GRCm39)	R1582Q	probably benign	Het
Dsg2	A	T	18: 20,725,332 (GRCm39)	H481L	probably benign	Het
Epha6	A	G	16: 59,503,013 (GRCm39)	S965P	probably damaging	Het
Esrrg	G	T	1: 187,882,503 (GRCm39)	L253F	probably damaging	Het
Exoc6b	T	C	6: 84,831,704 (GRCm39)	K438R	probably damaging	Het
Fam98a	C	A	17: 75,845,384 (GRCm39)	R454L	unknown	Het
Fam98c	A	T	7: 28,855,308 (GRCm39)		probably null	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Galnt13	A	G	2: 54,988,587 (GRCm39)	T470A	probably damaging	Het
Ggt7	A	T	2: 155,345,015 (GRCm39)		probably null	Het
Golim4	T	C	3: 75,785,957 (GRCm39)	E606G	probably damaging	Het
Gpd2	G	A	2: 57,197,112 (GRCm39)		probably null	Het
Grin2b	T	C	6: 135,757,304 (GRCm39)	M386V	probably damaging	Het
Hfm1	A	T	5: 107,059,306 (GRCm39)	S239T	probably benign	Het
Hmcn1	G	A	1: 150,649,641 (GRCm39)	T615I	probably benign	Het
Hook2	G	A	8: 85,724,040 (GRCm39)	E446K	possibly damaging	Het
Hsd3b1	C	T	3: 98,765,131 (GRCm39)		probably null	Het
Igsf9b	A	G	9: 27,234,150 (GRCm39)	Y421C	probably damaging	Het
Il21	A	G	3: 37,286,629 (GRCm39)	L29P	probably damaging	Het
Ildr1	A	G	16: 36,542,730 (GRCm39)	S421G	probably benign	Het
Kat2b	C	A	17: 53,972,894 (GRCm39)	T736K	probably benign	Het
Kcng1	A	G	2: 168,104,529 (GRCm39)	V439A	probably damaging	Het
Kif21a	A	T	15: 90,833,106 (GRCm39)		probably null	Het
Lat	A	G	7: 125,968,318 (GRCm39)		probably null	Het
Mastl	T	A	2: 23,023,425 (GRCm39)	K433*	probably null	Het
Mettl2	A	G	11: 105,019,719 (GRCm39)	R119G	probably benign	Het
Mia2	C	T	12: 59,231,021 (GRCm39)	P1223L	possibly damaging	Het
Mkrn2os	G	T	6: 115,563,635 (GRCm39)	D133E	probably benign	Het
Mslnl	A	G	17: 25,962,186 (GRCm39)	T195A	probably benign	Het
Muc16	T	G	9: 18,551,051 (GRCm39)	T5081P	probably benign	Het
Mylpf	G	C	7: 126,813,139 (GRCm39)	R110P	probably damaging	Het
Myo19	G	T	11: 84,798,194 (GRCm39)	C738F	possibly damaging	Het
Nat8f4	T	A	6: 85,878,271 (GRCm39)	N84I	possibly damaging	Het
Nol8	C	T	13: 49,829,862 (GRCm39)	R1104C	probably damaging	Het
Notch1	A	T	2: 26,353,830 (GRCm39)	D1932E	probably benign	Het
Nsun3	A	T	16: 62,596,663 (GRCm39)	C152S	possibly damaging	Het
Opcml	G	A	9: 28,586,507 (GRCm39)	W75*	probably null	Het
Or14j10	A	G	17: 37,934,597 (GRCm39)	F310L	probably benign	Het
Pcdh7	G	A	5: 57,879,582 (GRCm39)	E1046K	probably damaging	Het
Pcdhb9	T	A	18: 37,536,334 (GRCm39)	V776D	probably benign	Het
Pla2g4a	A	G	1: 149,727,103 (GRCm39)	L551S	probably damaging	Het
Plaa	G	A	4: 94,458,060 (GRCm39)	Q637*	probably null	Het
Plekhh1	A	T	12: 79,122,204 (GRCm39)	E1099V	probably damaging	Het
Ppp4r1	A	T	17: 66,136,495 (GRCm39)	N551Y	probably benign	Het
R3hdm2	T	C	10: 127,320,382 (GRCm39)	V554A	probably damaging	Het
Rab44	A	G	17: 29,357,150 (GRCm39)		probably null	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Rasgrf2	T	C	13: 92,034,521 (GRCm39)	T1119A	probably damaging	Het
Rims2	A	G	15: 39,449,044 (GRCm39)	D1194G	probably damaging	Het
Scarb1	A	T	5: 125,374,294 (GRCm39)	C280S	probably damaging	Het
Sde2	T	C	1: 180,693,827 (GRCm39)	F439S	probably damaging	Het
Setd5	T	C	6: 113,092,532 (GRCm39)	I304T	probably benign	Het
Sipa1l1	A	G	12: 82,449,896 (GRCm39)	E1106G	probably benign	Het
Sis	T	G	3: 72,810,940 (GRCm39)	S1694R	probably damaging	Het
Smad9	T	A	3: 54,693,614 (GRCm39)	F181Y	probably benign	Het
Smg1	A	G	7: 117,797,502 (GRCm39)		probably benign	Het
Sspo	T	C	6: 48,425,516 (GRCm39)	Y46H	probably damaging	Het
Tdrd12	A	G	7: 35,177,534 (GRCm39)	M940T	unknown	Het
Tmem44	G	T	16: 30,366,213 (GRCm39)	T71K	possibly damaging	Het
Tmf1	T	A	6: 97,133,911 (GRCm39)	E1009V	probably damaging	Het
Ttc39a	C	T	4: 109,288,763 (GRCm39)	R288W	probably damaging	Het
Ttc9c	G	A	19: 8,796,191 (GRCm39)		probably benign	Het
Vmn1r211	C	T	13: 23,036,063 (GRCm39)	M201I	probably benign	Het
Vmn2r54	T	A	7: 12,349,722 (GRCm39)	Q620L	possibly damaging	Het
Vps13c	T	C	9: 67,831,110 (GRCm39)	L1580P	probably benign	Het
Vrk3	C	A	7: 44,417,890 (GRCm39)	F308L	probably damaging	Het
Zdbf2	T	A	1: 63,346,563 (GRCm39)	H1647Q	possibly damaging	Het
Zfp984	A	T	4: 147,840,002 (GRCm39)	M283K	probably benign	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
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'- TAGGAGCTGAATGCCAAGGC -3'
(R):5'- CTGATGGCTCTTTAAACTTTCTTGAGG -3'

Sequencing Primer
(F):5'- TGAATGCCAAGGCTGCTTC -3'
(R):5'- GTCTACACAGTGAGTTCCAGGAC -3'

Posted On

2019-05-13