Mutagenetix > Incidental Mutations

Incidental Mutation 'R4032:Usp44'

313541

Institutional Source

Beutler Lab

Gene Symbol

Usp44

Ensembl Gene

ENSMUSG00000020020

Gene Name

ubiquitin specific peptidase 44

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4032 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93831555-93858088 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 93847265 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095333] [ENSMUST00000216224]

Predicted Effect

unknown
Transcript: ENSMUST00000095333
AA Change: I479V

SMART Domains

Protein: ENSMUSP00000092975
Gene: ENSMUSG00000020020
AA Change: I479V

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	26	88	5.4e-23	PFAM
Pfam:UCH	161	480	3.1e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216224

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
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 protease that functions as a deubiquitinating enzyme. The encoded protein is thought to help regulate the spindle assembly checkpoint by preventing early anaphase onset. This protein specifically deubiquitinates CDC20, which stabilizes the anaphase promoting complex/cyclosome. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit chromosomal instability, aneuploidy and increased tumor incidence. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Arhgap17	G	T	7: 123,280,066		probably benign	Het
Atp13a4	T	A	16: 29,418,571	M846L	probably damaging	Het
Capn5	G	T	7: 98,129,246	Q389K	probably damaging	Het
Cdkl3	T	A	11: 52,011,291	I109N	probably damaging	Het
Cry2	T	C	2: 92,413,827	I334V	probably benign	Het
Cs	T	C	10: 128,361,044	L436P	probably damaging	Het
D17H6S53E	T	C	17: 35,127,379	S89P	probably benign	Het
Dync1h1	C	T	12: 110,618,049	Q629*	probably null	Het
Fam122a	C	T	19: 24,476,742	M205I	probably benign	Het
Hist1h4k	T	C	13: 21,750,418	I30V	possibly damaging	Het
Itpka	C	T	2: 119,742,601	P75S	probably benign	Het
Lyst	C	T	13: 13,616,665	H38Y	probably damaging	Het
Mansc4	T	C	6: 147,075,180	K313E	probably benign	Het
Megf6	T	A	4: 154,177,093	C58*	probably null	Het
Mtor	T	C	4: 148,536,752	V1869A	probably benign	Het
Mybpc1	T	C	10: 88,529,564	D899G	probably benign	Het
Nek10	C	A	14: 14,853,877		probably null	Het
Nfkb1	T	C	3: 135,594,349	S657G	possibly damaging	Het
Olfr447	A	T	6: 42,911,625	Y34F	probably benign	Het
Olfr564	A	G	7: 102,804,189	K237R	probably benign	Het
Olfr722	G	T	14: 49,894,976	H275Q	probably benign	Het
Olfr734	T	A	14: 50,320,310	D175V	possibly damaging	Het
Olfr976	T	C	9: 39,956,333	T213A	probably benign	Het
Pde1b	A	G	15: 103,521,326	D82G	probably damaging	Het
Pdzrn4	C	T	15: 92,769,533	T522M	probably damaging	Het
Ptpro	C	A	6: 137,461,742	N373K	probably damaging	Het
Ptprs	T	C	17: 56,413,386	Y1478C	probably damaging	Het
Sdc2	A	T	15: 33,017,177	I46F	probably damaging	Het
Sergef	C	A	7: 46,443,302	E428*	probably null	Het
Stk36	A	G	1: 74,626,048	S651G	probably benign	Het
Ubr5	A	G	15: 38,024,837	V559A	probably benign	Het
Ugt8a	C	A	3: 125,874,158	D345Y	probably damaging	Het
Vps13a	A	T	19: 16,616,899	L3156Q	probably damaging	Het
Zfp655	A	G	5: 145,244,048	T239A	possibly damaging	Het
Zfp72	T	C	13: 74,372,330	T210A	possibly damaging	Het

Other mutations in Usp44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4378001:Usp44	UTSW	10	93845655	start gained	probably benign
R0497:Usp44	UTSW	10	93846806	missense	possibly damaging	0.77
R0789:Usp44	UTSW	10	93847220	intron	probably benign
R1521:Usp44	UTSW	10	93847186	nonsense	probably null
R4212:Usp44	UTSW	10	93846770	missense	possibly damaging	0.55
R4755:Usp44	UTSW	10	93846906	missense	probably damaging	1.00
R4764:Usp44	UTSW	10	93846071	missense	probably benign	0.17
R5095:Usp44	UTSW	10	93846845	missense	possibly damaging	0.70
R5775:Usp44	UTSW	10	93845978	missense	possibly damaging	0.80
R6029:Usp44	UTSW	10	93846632	missense	probably damaging	0.96
R6193:Usp44	UTSW	10	93847148	intron	probably benign
R6233:Usp44	UTSW	10	93850340	missense	probably damaging	1.00
R6338:Usp44	UTSW	10	93846513	missense	probably damaging	1.00
R6374:Usp44	UTSW	10	93856310	missense	probably benign	0.12
R6556:Usp44	UTSW	10	93846008	missense	probably benign	0.20
R6615:Usp44	UTSW	10	93846489	missense	possibly damaging	0.48
R7099:Usp44	UTSW	10	93850187	missense	possibly damaging	0.95
R7224:Usp44	UTSW	10	93845993	missense	probably benign	0.08
R7361:Usp44	UTSW	10	93846468	missense	probably benign	0.00
R7576:Usp44	UTSW	10	93846428	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCACGGACAATTTCTTAGTCAGG -3'
(R):5'- GTATAGCAACTATGTCCTCCAGG -3'

Sequencing Primer
(F):5'- CAGGTATGGATGTCTTGCCAC -3'
(R):5'- TTTCAACCAGATATGGGGGCAC -3'

Posted On

2015-04-30