Mutagenetix > Incidental Mutation

Incidental Mutation 'R9151:Usp4'

695041

Institutional Source

Beutler Lab

Gene Symbol

Usp4

Ensembl Gene

ENSMUSG00000032612

Gene Name

ubiquitin specific peptidase 4 (proto-oncogene)

Synonyms

Unp, F730026I20Rik

MMRRC Submission

068973-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R9151 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108225052-108269744 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108244011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 296 (H296Q)

Ref Sequence

ENSEMBL: ENSMUSP00000035237 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035237] [ENSMUST00000194224] [ENSMUST00000194959]

AlphaFold

P35123

PDB Structure

Crystal structure of the N-terminal domains of the ubiquitin specific peptidase 4 (USP4) [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000035237
AA Change: H296Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000035237
Gene: ENSMUSG00000032612
AA Change: H296Q

Domain	Start	End	E-Value	Type
DUSP	27	125	1.39e-46	SMART
Pfam:Ubiquitin_3	139	226	6.7e-34	PFAM
low complexity region	263	286	N/A	INTRINSIC
Pfam:UCH	301	919	2.2e-84	PFAM
Pfam:UCH_1	302	507	2.8e-8	PFAM
Pfam:UCH_1	605	901	1.4e-15	PFAM
low complexity region	927	938	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194224
AA Change: H296Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000141321
Gene: ENSMUSG00000032612
AA Change: H296Q

Domain	Start	End	E-Value	Type
DUSP	27	125	5.5e-49	SMART
Pfam:Ubiquitin_3	139	226	1.3e-30	PFAM
low complexity region	263	286	N/A	INTRINSIC
Pfam:UCH	301	633	1.4e-50	PFAM
Pfam:UCH_1	302	520	2.3e-8	PFAM
low complexity region	657	673	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194959
AA Change: H249Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000141368
Gene: ENSMUSG00000032612
AA Change: H249Q

Domain	Start	End	E-Value	Type
DUSP	27	125	5.5e-49	SMART
Pfam:Ubiquitin_3	139	226	1.7e-30	PFAM
Pfam:UCH	254	872	7e-89	PFAM
Pfam:UCH_1	255	469	3.5e-8	PFAM
Pfam:UCH_1	566	854	2.5e-14	PFAM
low complexity region	880	891	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (71/71)

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 protease that deubiquitinates target proteins such as ADORA2A and TRIM21. The encoded protein shuttles between the nucleus and cytoplasm and is involved in maintaining operational fidelity in the endoplasmic reticulum. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased irradiation-induced apoptosis, slow cellular growth, resistance to oncogenic transformation, and early cellular replicative senescence. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,188,908 (GRCm39)	F850L	probably benign	Het
Adam1a	A	T	5: 121,657,411 (GRCm39)	D627E	probably damaging	Het
Add2	C	A	6: 86,081,459 (GRCm39)		probably benign	Het
Anpep	T	C	7: 79,491,785 (GRCm39)	N72S	probably benign	Het
Aqp6	A	G	15: 99,501,655 (GRCm39)	T238A	possibly damaging	Het
Arhgef38	G	T	3: 132,912,706 (GRCm39)	T111K		Het
Atg10	A	G	13: 91,189,032 (GRCm39)	Y93H	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cald1	A	G	6: 34,732,682 (GRCm39)	N286S	unknown	Het
Caps2	A	T	10: 112,031,829 (GRCm39)	I322F	possibly damaging	Het
Cbx3	T	A	6: 51,455,533 (GRCm39)	S95T	probably benign	Het
Ccdc24	T	C	4: 117,727,102 (GRCm39)	T83A	unknown	Het
Cntn1	T	C	15: 92,140,864 (GRCm39)	Y197H	probably damaging	Het
Cpd	A	G	11: 76,675,275 (GRCm39)	I1282T	possibly damaging	Het
Crat	A	T	2: 30,295,052 (GRCm39)	S454R	probably damaging	Het
D2hgdh	G	A	1: 93,754,338 (GRCm39)	V126I	probably benign	Het
Dcst1	A	G	3: 89,271,558 (GRCm39)	V75A	probably benign	Het
Dnm1l	T	C	16: 16,176,668 (GRCm39)	D21G	probably benign	Het
Evc2	A	G	5: 37,504,823 (GRCm39)	N74D	probably benign	Het
Gm19965	A	T	1: 116,748,942 (GRCm39)	M208L		Het
Gprc6a	T	G	10: 51,497,182 (GRCm39)	T454P	possibly damaging	Het
Gprin1	C	T	13: 54,886,778 (GRCm39)	V499M	probably benign	Het
Gtf3c5	A	G	2: 28,463,577 (GRCm39)	Y194H	probably damaging	Het
Hcn4	T	C	9: 58,767,880 (GRCm39)	V1147A	possibly damaging	Het
Ighv1-82	A	C	12: 115,916,342 (GRCm39)	V56G	probably damaging	Het
Ins2	T	C	7: 142,232,505 (GRCm39)	D93G	possibly damaging	Het
Itgb8	A	G	12: 119,130,535 (GRCm39)	S658P	probably benign	Het
Kcnmb1	T	C	11: 33,920,263 (GRCm39)	F159L	probably benign	Het
Klf1	C	T	8: 85,629,954 (GRCm39)	L260F	probably benign	Het
Larp4	T	A	15: 99,888,205 (GRCm39)	S140T	possibly damaging	Het
Maneal	C	A	4: 124,755,542 (GRCm39)	R140L	probably benign	Het
Mfsd11	T	A	11: 116,750,323 (GRCm39)	V114D		Het
Muc4	A	G	16: 32,752,617 (GRCm38)	T832A	probably benign	Het
Myh11	T	G	16: 14,050,439 (GRCm39)	I509L		Het
Myh13	A	T	11: 67,252,149 (GRCm39)	E1419V	probably damaging	Het
Myh7b	A	G	2: 155,474,439 (GRCm39)	E1718G	probably damaging	Het
Myo9b	T	A	8: 71,807,871 (GRCm39)		probably benign	Het
Notch1	A	T	2: 26,367,939 (GRCm39)	L656Q	probably benign	Het
Nova1	A	G	12: 46,746,813 (GRCm39)	I488T	probably damaging	Het
Or51r1	A	T	7: 102,228,500 (GRCm39)	E266V	probably damaging	Het
Or5b113	A	T	19: 13,342,222 (GRCm39)	T77S	possibly damaging	Het
Or5b21	A	G	19: 12,839,976 (GRCm39)	Y279C	probably damaging	Het
Or5d18	A	G	2: 87,864,697 (GRCm39)	V262A	probably damaging	Het
Or6c35	A	G	10: 129,169,623 (GRCm39)	N291S	probably damaging	Het
Or6d13	A	T	6: 116,517,990 (GRCm39)	N192I	possibly damaging	Het
Pax6	C	T	2: 105,523,097 (GRCm39)	S325L	probably benign	Het
Phldb1	T	C	9: 44,619,740 (GRCm39)	D142G	probably null	Het
Phldb3	T	G	7: 24,324,048 (GRCm39)		probably benign	Het
Pikfyve	G	T	1: 65,235,898 (GRCm39)	R190L	probably damaging	Het
Plagl2	A	T	2: 153,074,540 (GRCm39)	H120Q	probably damaging	Het
Pou2f1	A	T	1: 165,703,640 (GRCm39)		probably benign	Het
Pramel58	A	G	5: 94,831,836 (GRCm39)	Y281C	possibly damaging	Het
Prpf6	A	G	2: 181,250,001 (GRCm39)	R54G	possibly damaging	Het
Prss33	T	C	17: 24,052,966 (GRCm39)	E236G	probably benign	Het
Ptpru	T	C	4: 131,522,278 (GRCm39)	Y709C	probably benign	Het
Rcc1l	A	G	5: 134,197,057 (GRCm39)	V212A	probably benign	Het
Rtl1	G	A	12: 109,560,007 (GRCm39)	L611F		Het
Scp2	A	G	4: 107,931,603 (GRCm39)	I344T	possibly damaging	Het
Serpinb2	A	T	1: 107,449,890 (GRCm39)	D101V	possibly damaging	Het
Slc13a1	T	C	6: 24,097,662 (GRCm39)	T422A	probably damaging	Het
Slc38a10	G	T	11: 120,007,762 (GRCm39)	T406K	probably benign	Het
Smad4	T	C	18: 73,782,806 (GRCm39)	E376G	probably damaging	Het
Smarcb1	T	C	10: 75,750,916 (GRCm39)	E115G	probably benign	Het
Spata31h1	A	T	10: 82,120,928 (GRCm39)	H4027Q	probably damaging	Het
Taf5	G	A	19: 47,063,370 (GRCm39)	V307I	probably damaging	Het
Tnc	T	C	4: 63,938,686 (GRCm39)	N51S	possibly damaging	Het
Trp53inp2	G	T	2: 155,228,558 (GRCm39)	R171L	possibly damaging	Het
Ttc13	A	T	8: 125,402,021 (GRCm39)	D579E	probably benign	Het
Ttn	A	T	2: 76,775,896 (GRCm39)	N1761K	unknown	Het
Ttpa	C	T	4: 20,008,401 (GRCm39)		probably benign	Het
Ugt3a1	G	A	15: 9,362,051 (GRCm39)	V276I	probably benign	Het
Vmn1r119	T	A	7: 20,745,593 (GRCm39)	H263L	possibly damaging	Het
Vmn2r81	A	G	10: 79,103,905 (GRCm39)	D176G		Het
Wdr1	A	T	5: 38,687,468 (GRCm39)		probably benign	Het
Zfp488	T	G	14: 33,692,695 (GRCm39)	Q156P	possibly damaging	Het

Other mutations in Usp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01530:Usp4	APN	9	108,240,099 (GRCm39)	critical splice donor site	probably null
IGL01663:Usp4	APN	9	108,243,079 (GRCm39)	missense	possibly damaging	0.80
IGL02105:Usp4	APN	9	108,262,131 (GRCm39)	missense	probably damaging	1.00
IGL02486:Usp4	APN	9	108,228,228 (GRCm39)	missense	probably damaging	1.00
kleinesrot	UTSW	9	108,233,661 (GRCm39)	missense	possibly damaging	0.95
R0148:Usp4	UTSW	9	108,268,870 (GRCm39)	splice site	probably null
R0285:Usp4	UTSW	9	108,255,763 (GRCm39)	missense	probably benign	0.33
R0591:Usp4	UTSW	9	108,225,228 (GRCm39)	splice site	probably benign
R0594:Usp4	UTSW	9	108,248,080 (GRCm39)	splice site	probably null
R0616:Usp4	UTSW	9	108,244,003 (GRCm39)	missense	probably benign
R1329:Usp4	UTSW	9	108,249,765 (GRCm39)	missense	probably damaging	1.00
R1508:Usp4	UTSW	9	108,249,873 (GRCm39)	missense	probably benign	0.14
R1752:Usp4	UTSW	9	108,251,441 (GRCm39)	missense	probably damaging	1.00
R1824:Usp4	UTSW	9	108,225,207 (GRCm39)	missense	probably damaging	1.00
R1846:Usp4	UTSW	9	108,249,935 (GRCm39)	missense	probably benign
R2196:Usp4	UTSW	9	108,250,885 (GRCm39)	missense	probably benign	0.07
R2925:Usp4	UTSW	9	108,245,055 (GRCm39)	missense	probably damaging	1.00
R4126:Usp4	UTSW	9	108,237,316 (GRCm39)	missense	probably benign	0.10
R4345:Usp4	UTSW	9	108,245,222 (GRCm39)	intron	probably benign
R4965:Usp4	UTSW	9	108,239,819 (GRCm39)	missense	probably damaging	1.00
R4981:Usp4	UTSW	9	108,258,617 (GRCm39)	missense	probably benign	0.00
R5110:Usp4	UTSW	9	108,239,877 (GRCm39)	missense	probably damaging	1.00
R5580:Usp4	UTSW	9	108,243,058 (GRCm39)	missense	probably benign	0.09
R5586:Usp4	UTSW	9	108,233,661 (GRCm39)	missense	possibly damaging	0.95
R5927:Usp4	UTSW	9	108,268,959 (GRCm39)	missense	probably benign	0.09
R6025:Usp4	UTSW	9	108,237,322 (GRCm39)	missense	possibly damaging	0.70
R6112:Usp4	UTSW	9	108,233,703 (GRCm39)	missense	probably damaging	1.00
R6197:Usp4	UTSW	9	108,248,154 (GRCm39)	missense	probably damaging	1.00
R6742:Usp4	UTSW	9	108,251,438 (GRCm39)	missense	possibly damaging	0.74
R7320:Usp4	UTSW	9	108,265,505 (GRCm39)	missense	probably benign	0.00
R7458:Usp4	UTSW	9	108,245,055 (GRCm39)	missense	probably damaging	1.00
R7531:Usp4	UTSW	9	108,249,879 (GRCm39)	missense	probably damaging	1.00
R7563:Usp4	UTSW	9	108,256,543 (GRCm39)	missense	probably benign
R8022:Usp4	UTSW	9	108,255,670 (GRCm39)	missense	probably damaging	0.99
R8510:Usp4	UTSW	9	108,265,581 (GRCm39)	critical splice donor site	probably null
R8996:Usp4	UTSW	9	108,268,909 (GRCm39)	missense	probably damaging	1.00
R9775:Usp4	UTSW	9	108,239,780 (GRCm39)	missense	probably damaging	1.00
X0026:Usp4	UTSW	9	108,225,069 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- ACACCTGCTGACAAGTCAAG -3'
(R):5'- CTTCTGAAGCACTAAAAGGAAGTG -3'

Sequencing Primer
(F):5'- CCTGCTGACAAGTCAAGTAAAG -3'
(R):5'- CTGCAGAGCAGAGTTCAT -3'

Posted On

2022-01-20