Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02047:Usp28'

184964

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 #

IGL02047

Quality Score

Status

Chromosome

Chromosomal Location

48896675-48953817 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 48946941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 791 (P791S)

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: P791S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047467
Gene: ENSMUSG00000032267
AA Change: P791S

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

possibly damaging
Transcript: ENSMUST00000213874
AA Change: P766S

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215118

Predicted Effect

probably damaging
Transcript: ENSMUST00000215856
AA Change: P506S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216657

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	G	T	6: 92,808,909 (GRCm39)		probably benign	Het
Ank3	A	G	10: 69,728,324 (GRCm39)	N681S	possibly damaging	Het
Arpp19	T	G	9: 74,964,058 (GRCm39)	S137A	probably damaging	Het
Bmp2	T	C	2: 133,402,896 (GRCm39)	L149P	probably damaging	Het
Bpifb1	T	C	2: 154,044,536 (GRCm39)	M1T	probably null	Het
Btbd7	T	C	12: 102,760,038 (GRCm39)	S637G	probably benign	Het
Cyp51	T	A	5: 4,149,244 (GRCm39)	H211L	possibly damaging	Het
Cyth1	C	A	11: 118,059,958 (GRCm39)	Q333H	probably damaging	Het
Dennd5a	G	A	7: 109,533,991 (GRCm39)	T67M	possibly damaging	Het
Dse	A	T	10: 34,038,841 (GRCm39)	Y51*	probably null	Het
Dynlt3	A	T	X: 9,522,665 (GRCm39)	Y76*	probably null	Het
Fabp12	T	C	3: 10,312,778 (GRCm39)		probably benign	Het
Galr1	A	T	18: 82,424,118 (GRCm39)	L53Q	probably damaging	Het
Igkv4-70	A	T	6: 69,244,911 (GRCm39)	D103E	probably damaging	Het
Il2	T	C	3: 37,180,000 (GRCm39)	N19S	probably benign	Het
Jhy	T	C	9: 40,828,476 (GRCm39)	I477V	probably benign	Het
Kcnk4	A	G	19: 6,903,626 (GRCm39)	S308P	probably benign	Het
Lipo3	A	T	19: 33,534,562 (GRCm39)	I299K	probably benign	Het
Mark3	T	A	12: 111,584,797 (GRCm39)	I131N	probably damaging	Het
Msr1	A	G	8: 40,077,001 (GRCm39)	V137A	probably benign	Het
Nf1	T	A	11: 79,316,361 (GRCm39)	V482E	probably benign	Het
Pcsk1	T	C	13: 75,246,108 (GRCm39)	V162A	probably benign	Het
Phf8-ps	C	T	17: 33,286,275 (GRCm39)	V176M	probably damaging	Het
Plekhb1	A	G	7: 100,304,506 (GRCm39)	V47A	probably damaging	Het
R3hcc1l	G	A	19: 42,552,258 (GRCm39)	M418I	probably benign	Het
Slc24a4	T	C	12: 102,220,882 (GRCm39)	F438L	probably damaging	Het
Slc38a5	G	T	X: 8,139,879 (GRCm39)	V127L	possibly damaging	Het
Szt2	A	G	4: 118,233,834 (GRCm39)		probably benign	Het
Tdh	A	T	14: 63,734,407 (GRCm39)	H80Q	probably benign	Het
Tshz3	A	C	7: 36,469,893 (GRCm39)	K627N	probably damaging	Het
Wdr81	A	G	11: 75,336,332 (GRCm39)	Y1686H	probably damaging	Het
Xpot	G	T	10: 121,437,267 (GRCm39)		probably benign	Het
Zfand4	G	A	6: 116,291,889 (GRCm39)	G627R	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
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

2014-05-07