Mutagenetix > Incidental Mutation

Incidental Mutation 'R5095:Usp44'

395832

Institutional Source

Beutler Lab

Gene Symbol

Usp44

Ensembl Gene

ENSMUSG00000020020

Gene Name

ubiquitin specific peptidase 44

Synonyms

E430004F17Rik

MMRRC Submission

042684-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5095 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93667417-93693950 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93682707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 386 (I386F)

Ref Sequence

ENSEMBL: ENSMUSP00000149020 (fasta)

Gene Model

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

AlphaFold

Q8C2S0

Predicted Effect

probably benign
Transcript: ENSMUST00000095333
AA Change: I339F

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000092975
Gene: ENSMUSG00000020020
AA Change: I339F

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

possibly damaging
Transcript: ENSMUST00000216224
AA Change: I386F

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (59/60)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021A07Rik	G	C	10: 21,301,492 (GRCm39)		noncoding transcript	Het
Adgrv1	C	T	13: 81,243,606 (GRCm39)	V6265I	probably benign	Het
Agbl1	G	A	7: 76,369,881 (GRCm39)	G660D	probably damaging	Het
Arap2	A	G	5: 62,811,392 (GRCm39)	Y1140H	probably damaging	Het
Atp6v1c1	T	C	15: 38,679,657 (GRCm39)		probably null	Het
C1rb	A	T	6: 124,557,272 (GRCm39)	R470W	possibly damaging	Het
Caskin2	T	C	11: 115,691,564 (GRCm39)	T1074A	probably benign	Het
Cdh19	T	A	1: 110,882,391 (GRCm39)	T34S	probably benign	Het
Csnk1a1	T	A	18: 61,708,547 (GRCm39)	Y175N	probably damaging	Het
F2	CAGAAAG	CAG	2: 91,465,302 (GRCm39)		probably benign	Het
Flt4	T	A	11: 49,517,986 (GRCm39)	V342D	possibly damaging	Het
Frmd5	A	T	2: 121,379,402 (GRCm39)	C394S	possibly damaging	Het
Gm5414	T	G	15: 101,532,473 (GRCm39)	N550T	probably benign	Het
Hcn3	C	A	3: 89,057,230 (GRCm39)	R456L	probably damaging	Het
Htt	T	C	5: 34,981,739 (GRCm39)	V893A	possibly damaging	Het
Ift46	A	G	9: 44,698,146 (GRCm39)	D203G	probably damaging	Het
Itga10	G	T	3: 96,555,480 (GRCm39)	V145L	probably benign	Het
Kcnh6	A	G	11: 105,908,080 (GRCm39)	D232G	possibly damaging	Het
Mbtd1	T	C	11: 93,820,497 (GRCm39)	S431P	probably damaging	Het
Mmp27	T	A	9: 7,572,159 (GRCm39)	W120R	probably damaging	Het
Mmp27	A	T	9: 7,579,001 (GRCm39)	D418V	probably damaging	Het
Myo5a	A	G	9: 75,059,302 (GRCm39)	D510G	probably damaging	Het
Myo5a	A	T	9: 75,091,671 (GRCm39)	K1179*	probably null	Het
Neto1	T	C	18: 86,416,406 (GRCm39)	S38P	probably benign	Het
Nos3	A	G	5: 24,573,916 (GRCm39)		probably benign	Het
Nuggc	C	T	14: 65,872,539 (GRCm39)	R512*	probably null	Het
Oas1e	T	A	5: 120,932,329 (GRCm39)	K105*	probably null	Het
Omd	T	A	13: 49,743,174 (GRCm39)	S75T	possibly damaging	Het
Or10a3m	T	C	7: 108,313,019 (GRCm39)	F141S	probably damaging	Het
Or2n1c	A	C	17: 38,519,208 (GRCm39)	E24A	possibly damaging	Het
Pbrm1	A	G	14: 30,754,487 (GRCm39)	N190S	probably benign	Het
Picalm	T	C	7: 89,819,841 (GRCm39)	F85L	probably damaging	Het
Polg	A	G	7: 79,110,048 (GRCm39)	V360A	possibly damaging	Het
Prex1	T	C	2: 166,423,841 (GRCm39)	D1017G	probably damaging	Het
Prss56	G	C	1: 87,115,833 (GRCm39)	R569P	probably damaging	Het
Rab6b	G	A	9: 103,017,583 (GRCm39)	G25R	probably damaging	Het
Rdh10	A	G	1: 16,201,609 (GRCm39)	T332A	probably benign	Het
Rheb	A	T	5: 25,012,639 (GRCm39)	M115K	probably benign	Het
Rnf149	A	T	1: 39,594,737 (GRCm39)	D321E	probably benign	Het
Rps28	C	T	17: 34,042,177 (GRCm39)		probably null	Het
Slc6a20b	A	G	9: 123,424,119 (GRCm39)	V616A	probably benign	Het
Smarcc2	A	G	10: 128,305,169 (GRCm39)	K300R	probably damaging	Het
Sparcl1	C	T	5: 104,233,629 (GRCm39)	M573I	probably damaging	Het
Spata31h1	G	T	10: 82,119,501 (GRCm39)	A4503E	probably damaging	Het
Srp68	C	T	11: 116,139,573 (GRCm39)	V459M	probably damaging	Het
Stxbp4	C	T	11: 90,439,801 (GRCm39)	V346I	probably benign	Het
Syne2	A	G	12: 75,999,600 (GRCm39)	D2331G	probably damaging	Het
Ttn	A	T	2: 76,564,536 (GRCm39)	Y28534N	probably damaging	Het
Vmn2r15	T	C	5: 109,436,317 (GRCm39)		probably null	Het
Vmn2r72	T	A	7: 85,387,061 (GRCm39)	L834F	probably damaging	Het
Vps13b	T	A	15: 35,923,348 (GRCm39)	I3741K	probably damaging	Het
Zdbf2	A	G	1: 63,348,232 (GRCm39)	T2204A	possibly damaging	Het
Zfp607b	T	A	7: 27,393,061 (GRCm39)		probably benign	Het

Other mutations in Usp44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4378001:Usp44	UTSW	10	93,681,517 (GRCm39)	start gained	probably benign
R0497:Usp44	UTSW	10	93,682,668 (GRCm39)	missense	possibly damaging	0.77
R0789:Usp44	UTSW	10	93,683,082 (GRCm39)	intron	probably benign
R1521:Usp44	UTSW	10	93,683,048 (GRCm39)	nonsense	probably null
R4032:Usp44	UTSW	10	93,683,127 (GRCm39)	intron	probably benign
R4212:Usp44	UTSW	10	93,682,632 (GRCm39)	missense	possibly damaging	0.55
R4755:Usp44	UTSW	10	93,682,768 (GRCm39)	missense	probably damaging	1.00
R4764:Usp44	UTSW	10	93,681,933 (GRCm39)	missense	probably benign	0.17
R5775:Usp44	UTSW	10	93,681,840 (GRCm39)	missense	possibly damaging	0.80
R6029:Usp44	UTSW	10	93,682,494 (GRCm39)	missense	probably damaging	0.96
R6193:Usp44	UTSW	10	93,683,010 (GRCm39)	intron	probably benign
R6233:Usp44	UTSW	10	93,686,202 (GRCm39)	missense	probably damaging	1.00
R6338:Usp44	UTSW	10	93,682,375 (GRCm39)	missense	probably damaging	1.00
R6374:Usp44	UTSW	10	93,692,172 (GRCm39)	missense	probably benign	0.12
R6556:Usp44	UTSW	10	93,681,870 (GRCm39)	missense	probably benign	0.20
R6615:Usp44	UTSW	10	93,682,351 (GRCm39)	missense	possibly damaging	0.48
R7099:Usp44	UTSW	10	93,686,049 (GRCm39)	missense	possibly damaging	0.95
R7224:Usp44	UTSW	10	93,681,855 (GRCm39)	missense	probably benign	0.08
R7361:Usp44	UTSW	10	93,682,330 (GRCm39)	missense	probably benign	0.00
R7576:Usp44	UTSW	10	93,682,290 (GRCm39)	missense	probably damaging	0.99
R8014:Usp44	UTSW	10	93,688,571 (GRCm39)	critical splice acceptor site	probably null
R8695:Usp44	UTSW	10	93,682,365 (GRCm39)	missense	probably damaging	1.00
R8919:Usp44	UTSW	10	93,693,775 (GRCm39)	missense	probably benign	0.00
R8950:Usp44	UTSW	10	93,682,129 (GRCm39)	missense	possibly damaging	0.93
R9144:Usp44	UTSW	10	93,681,645 (GRCm39)	missense	probably benign	0.09
R9254:Usp44	UTSW	10	93,688,635 (GRCm39)	missense	possibly damaging	0.93
R9379:Usp44	UTSW	10	93,688,635 (GRCm39)	missense	possibly damaging	0.93
R9488:Usp44	UTSW	10	93,682,851 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- AGCGATAAGGCCCGATCCTATAAG -3'
(R):5'- AGGGCTGGTAACTTGGTTCC -3'

Sequencing Primer
(F):5'- GGCCCGATCCTATAAGCACTCAG -3'
(R):5'- CCGGTTGTCTCTAGTTCACG -3'

Posted On

2016-06-21