Mutagenetix > Incidental Mutation

Incidental Mutation 'R6338:Usp44'

514340

Institutional Source

Beutler Lab

Gene Symbol

Usp44

Ensembl Gene

ENSMUSG00000020020

Gene Name

ubiquitin specific peptidase 44

Synonyms

MMRRC Submission

044492-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6338 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93831555-93858088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 93846513 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Isoleucine at position 275 (R275I)

Ref Sequence

ENSEMBL: ENSMUSP00000149020 (fasta)

Gene Model

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

AlphaFold

Q8C2S0

Predicted Effect

probably benign
Transcript: ENSMUST00000095333

SMART Domains

Protein: ENSMUSP00000092975
Gene: ENSMUSG00000020020

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 damaging
Transcript: ENSMUST00000216224
AA Change: R275I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.8%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	T	C	7: 98,257,715 (GRCm38)	Y128C	probably damaging	Het
Adam30	T	G	3: 98,161,541 (GRCm38)	I102S	probably damaging	Het
Adcy8	A	T	15: 64,920,617 (GRCm38)	D163E	possibly damaging	Het
Agrn	C	T	4: 156,170,585 (GRCm38)	E1614K	probably benign	Het
Aldh16a1	A	T	7: 45,141,961 (GRCm38)	W107R	probably damaging	Het
Arfgef2	A	G	2: 166,845,570 (GRCm38)	D238G	probably damaging	Het
Arhgap11a	T	C	2: 113,833,725 (GRCm38)	S738G	probably benign	Het
Arid5b	C	A	10: 68,098,561 (GRCm38)	G504*	probably null	Het
Carmil3	T	C	14: 55,499,849 (GRCm38)	V763A	possibly damaging	Het
Cd209e	T	A	8: 3,849,154 (GRCm38)	D186V	probably damaging	Het
Cdh23	T	C	10: 60,413,151 (GRCm38)	D882G	probably damaging	Het
Cdh4	T	C	2: 179,890,812 (GRCm38)	V689A	probably damaging	Het
Cntn6	T	A	6: 104,726,139 (GRCm38)	V174E	probably damaging	Het
Col7a1	C	T	9: 108,956,633 (GRCm38)	T390M	unknown	Het
Crybg1	T	C	10: 43,992,509 (GRCm38)	D1017G	probably damaging	Het
Csmd1	T	G	8: 15,932,492 (GRCm38)	K2725T	possibly damaging	Het
Dnaaf2	T	C	12: 69,198,122 (GRCm38)	E55G	probably damaging	Het
Fam13a	A	G	6: 58,953,499 (GRCm38)	V476A	probably damaging	Het
Fem1b	A	T	9: 62,797,011 (GRCm38)	D322E	probably benign	Het
Frmpd1	G	A	4: 45,274,489 (GRCm38)	V466I	probably benign	Het
Gm11639	C	T	11: 104,843,208 (GRCm38)	R2027*	probably null	Het
Gm20671	A	T	5: 32,820,647 (GRCm38)	D1794E	probably damaging	Het
Gpatch2	G	T	1: 187,225,514 (GRCm38)	R22L	probably damaging	Het
Gtf2h1	A	G	7: 46,816,456 (GRCm38)	T450A	probably benign	Het
Kcnc2	G	C	10: 112,271,856 (GRCm38)	G51R	probably benign	Het
Krit1	T	G	5: 3,836,857 (GRCm38)	M702R	probably benign	Het
Krt34	T	C	11: 100,038,490 (GRCm38)	N298S	probably benign	Het
Lrrcc1	T	A	3: 14,547,316 (GRCm38)	N376K	possibly damaging	Het
Myo15	A	G	11: 60,478,133 (GRCm38)	E573G	probably damaging	Het
Olfr1224-ps1	T	A	2: 89,156,371 (GRCm38)	K268I	probably damaging	Het
Olfr1390	A	G	11: 49,340,867 (GRCm38)	S112G	probably benign	Het
Olfr366	A	T	2: 37,219,822 (GRCm38)	D111V	probably damaging	Het
Olfr391-ps	A	T	11: 73,799,319 (GRCm38)	L146Q	possibly damaging	Het
Olfr661	T	A	7: 104,688,171 (GRCm38)	V52E	possibly damaging	Het
Olfr736	T	A	14: 50,393,400 (GRCm38)	F215I	possibly damaging	Het
Phf20	A	T	2: 156,273,686 (GRCm38)	Q309L	possibly damaging	Het
Plcd1	G	A	9: 119,074,991 (GRCm38)	R292C	probably damaging	Het
Pold3	A	G	7: 100,088,105 (GRCm38)	V342A	possibly damaging	Het
Polr2a	A	T	11: 69,739,679 (GRCm38)		probably null	Het
Ptprcap	A	G	19: 4,156,224 (GRCm38)	E102G	probably benign	Het
Rab11fip5	T	C	6: 85,341,378 (GRCm38)	E843G	possibly damaging	Het
Rai14	T	C	15: 10,574,976 (GRCm38)	D632G	probably damaging	Het
Rnf149	A	T	1: 39,560,742 (GRCm38)	C268S	probably null	Het
Slc6a13	T	A	6: 121,334,839 (GRCm38)	F392I	probably damaging	Het
Slc7a11	C	T	3: 50,384,043 (GRCm38)		probably null	Het
Slf1	T	A	13: 77,084,462 (GRCm38)		probably null	Het
Stard9	G	A	2: 120,697,485 (GRCm38)	V1408I	probably benign	Het
Suclg1	T	C	6: 73,264,246 (GRCm38)	I183T	probably damaging	Het
Syne1	T	C	10: 5,255,475 (GRCm38)	E3497G	probably benign	Het
Tax1bp1	C	T	6: 52,729,376 (GRCm38)	R121*	probably null	Het
Tdpoz2	C	T	3: 93,652,336 (GRCm38)	V110I	probably benign	Het
Ubn2	A	G	6: 38,490,714 (GRCm38)	T788A	probably benign	Het
Unc13c	T	A	9: 73,734,447 (GRCm38)	I1255F	probably damaging	Het
Uspl1	A	G	5: 149,215,034 (GRCm38)	N1015D	probably benign	Het
Wbp2nl	G	T	15: 82,299,045 (GRCm38)	W13C	possibly damaging	Het
Zc3h14	T	A	12: 98,758,590 (GRCm38)	D170E	possibly damaging	Het

Other mutations in Usp44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4378001:Usp44	UTSW	10	93,845,655 (GRCm38)	start gained	probably benign
R0497:Usp44	UTSW	10	93,846,806 (GRCm38)	missense	possibly damaging	0.77
R0789:Usp44	UTSW	10	93,847,220 (GRCm38)	intron	probably benign
R1521:Usp44	UTSW	10	93,847,186 (GRCm38)	nonsense	probably null
R4032:Usp44	UTSW	10	93,847,265 (GRCm38)	intron	probably benign
R4212:Usp44	UTSW	10	93,846,770 (GRCm38)	missense	possibly damaging	0.55
R4755:Usp44	UTSW	10	93,846,906 (GRCm38)	missense	probably damaging	1.00
R4764:Usp44	UTSW	10	93,846,071 (GRCm38)	missense	probably benign	0.17
R5095:Usp44	UTSW	10	93,846,845 (GRCm38)	missense	possibly damaging	0.70
R5775:Usp44	UTSW	10	93,845,978 (GRCm38)	missense	possibly damaging	0.80
R6029:Usp44	UTSW	10	93,846,632 (GRCm38)	missense	probably damaging	0.96
R6193:Usp44	UTSW	10	93,847,148 (GRCm38)	intron	probably benign
R6233:Usp44	UTSW	10	93,850,340 (GRCm38)	missense	probably damaging	1.00
R6374:Usp44	UTSW	10	93,856,310 (GRCm38)	missense	probably benign	0.12
R6556:Usp44	UTSW	10	93,846,008 (GRCm38)	missense	probably benign	0.20
R6615:Usp44	UTSW	10	93,846,489 (GRCm38)	missense	possibly damaging	0.48
R7099:Usp44	UTSW	10	93,850,187 (GRCm38)	missense	possibly damaging	0.95
R7224:Usp44	UTSW	10	93,845,993 (GRCm38)	missense	probably benign	0.08
R7361:Usp44	UTSW	10	93,846,468 (GRCm38)	missense	probably benign	0.00
R7576:Usp44	UTSW	10	93,846,428 (GRCm38)	missense	probably damaging	0.99
R8014:Usp44	UTSW	10	93,852,709 (GRCm38)	critical splice acceptor site	probably null
R8695:Usp44	UTSW	10	93,846,503 (GRCm38)	missense	probably damaging	1.00
R8919:Usp44	UTSW	10	93,857,913 (GRCm38)	missense	probably benign	0.00
R8950:Usp44	UTSW	10	93,846,267 (GRCm38)	missense	possibly damaging	0.93
R9144:Usp44	UTSW	10	93,845,783 (GRCm38)	missense	probably benign	0.09
R9254:Usp44	UTSW	10	93,852,773 (GRCm38)	missense	possibly damaging	0.93
R9379:Usp44	UTSW	10	93,852,773 (GRCm38)	missense	possibly damaging	0.93
R9488:Usp44	UTSW	10	93,846,989 (GRCm38)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- AGGCGGCCACAATCGAAATC -3'
(R):5'- AGGATAAACCCGAATGTCTGG -3'

Sequencing Primer
(F):5'- ATCGAAATCGTGCCAGTGC -3'
(R):5'- TGGAGCATACGAAGCCTTTC -3'

Posted On

2018-04-27