Mutagenetix > Incidental Mutation

Incidental Mutation 'R9254:Usp44'

701739

Institutional Source

Beutler Lab

Gene Symbol

Usp44

Ensembl Gene

ENSMUSG00000020020

Gene Name

ubiquitin specific peptidase 44

Synonyms

E430004F17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9254 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93667417-93693950 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93688635 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 562 (I562K)

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

possibly damaging
Transcript: ENSMUST00000216224
AA Change: I562K

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	A	G	6: 86,914,049 (GRCm39)	I173V	possibly damaging	Het
Abca14	G	T	7: 119,807,202 (GRCm39)	E83*	probably null	Het
Abcc5	T	C	16: 20,152,437 (GRCm39)	T1370A	probably damaging	Het
Abtb2	A	G	2: 103,541,580 (GRCm39)	T828A	probably benign	Het
Agap1	T	A	1: 89,653,741 (GRCm39)	V370D	probably damaging	Het
Ankhd1	T	C	18: 36,777,680 (GRCm39)	V1621A	probably benign	Het
Atp2a2	T	C	5: 122,611,315 (GRCm39)	I168V	probably benign	Het
Atxn2	G	A	5: 121,885,509 (GRCm39)	V239I	probably damaging	Het
B230219D22Rik	C	A	13: 55,847,283 (GRCm39)	A132E	probably damaging	Het
Bod1l	T	C	5: 41,979,223 (GRCm39)	E697G	probably damaging	Het
Ccdc162	T	G	10: 41,488,944 (GRCm39)		probably null	Het
Chd7	A	G	4: 8,752,210 (GRCm39)	S236G	unknown	Het
Csmd2	A	G	4: 128,091,112 (GRCm39)	E217G		Het
Cyp2j7	T	A	4: 96,105,740 (GRCm39)	K257*	probably null	Het
D630003M21Rik	C	T	2: 158,042,883 (GRCm39)	A886T	probably damaging	Het
D630044L22Rik	A	G	17: 26,180,856 (GRCm39)	H102R	possibly damaging	Het
Dact3	G	A	7: 16,620,013 (GRCm39)	V503I	unknown	Het
Dcn	G	T	10: 97,343,643 (GRCm39)	R201L	probably damaging	Het
Dmxl1	T	C	18: 50,024,567 (GRCm39)	V1747A	possibly damaging	Het
Dnajc14	T	A	10: 128,652,743 (GRCm39)		probably null	Het
Dner	A	G	1: 84,673,193 (GRCm39)	V86A	probably benign	Het
Dspp	A	T	5: 104,322,760 (GRCm39)		probably null	Het
Gphn	T	C	12: 78,674,036 (GRCm39)		probably null	Het
Gpr158	A	G	2: 21,373,042 (GRCm39)		probably benign	Het
Grip1	G	T	10: 119,780,961 (GRCm39)	L203F	probably damaging	Het
Hgfac	T	C	5: 35,202,133 (GRCm39)	W345R	probably damaging	Het
Hoga1	T	C	19: 42,051,697 (GRCm39)	L250P	probably damaging	Het
Ighv1-24	T	C	12: 114,736,663 (GRCm39)	Y79C	possibly damaging	Het
Katnip	T	C	7: 125,469,848 (GRCm39)	L1439P	probably damaging	Het
Kif21a	C	T	15: 90,854,030 (GRCm39)	R779Q	probably damaging	Het
Klkb1	T	C	8: 45,742,067 (GRCm39)	T71A	probably benign	Het
Lama2	A	G	10: 27,298,685 (GRCm39)	V137A	probably damaging	Het
Lrp2	T	C	2: 69,333,891 (GRCm39)	D1450G	probably benign	Het
Lrrc8c	T	A	5: 105,756,356 (GRCm39)	Y710*	probably null	Het
Mixl1	A	G	1: 180,522,258 (GRCm39)	S208P	probably benign	Het
Mroh1	A	G	15: 76,292,215 (GRCm39)	H229R	probably benign	Het
Muc16	T	A	9: 18,557,467 (GRCm39)	Q2942L	unknown	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup85	T	C	11: 115,469,424 (GRCm39)	I322T	probably benign	Het
Odad1	A	G	7: 45,597,116 (GRCm39)	T456A	probably benign	Het
Odad2	T	C	18: 7,265,089 (GRCm39)	D426G	possibly damaging	Het
Or10n7-ps1	A	G	9: 39,598,114 (GRCm39)	L42P	probably damaging	Het
Or5w15	T	A	2: 87,568,372 (GRCm39)	M99L	probably benign	Het
Or7e169	T	A	9: 19,757,212 (GRCm39)	K234N	possibly damaging	Het
Or8b4	C	T	9: 37,830,447 (GRCm39)	L165F	probably damaging	Het
Or9k2b	A	G	10: 130,016,605 (GRCm39)	M48T	possibly damaging	Het
Pcyt1a	G	A	16: 32,288,894 (GRCm39)	R245Q	probably benign	Het
Pi15	T	C	1: 17,695,180 (GRCm39)	Y266H	probably benign	Het
Plxna2	C	T	1: 194,492,474 (GRCm39)	T1777I	probably damaging	Het
Ppp3cb	T	C	14: 20,581,874 (GRCm39)	D47G	probably benign	Het
Pram1	T	C	17: 33,860,441 (GRCm39)	V336A	probably damaging	Het
Prl	T	A	13: 27,243,503 (GRCm39)	I58N	probably damaging	Het
Qrich2	T	C	11: 116,348,934 (GRCm39)	D630G	unknown	Het
Ralgapa1	G	C	12: 55,769,583 (GRCm39)	P803A	probably damaging	Het
Rin1	A	G	19: 5,103,249 (GRCm39)	K513E	probably damaging	Het
Rtcb	A	T	10: 85,779,071 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,898,002 (GRCm39)	C131Y	probably damaging	Het
Sspo	G	T	6: 48,464,928 (GRCm39)	V3954L	probably damaging	Het
Taf4b	C	T	18: 14,946,431 (GRCm39)	T418M	probably damaging	Het
Taf6	A	G	5: 138,181,952 (GRCm39)	I92T	possibly damaging	Het
Tfg	A	T	16: 56,526,050 (GRCm39)	D64E	probably damaging	Het
Tkfc	T	A	19: 10,574,712 (GRCm39)	E176V	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmem200a	A	T	10: 25,869,654 (GRCm39)	L205Q	probably damaging	Het
Trav13n-3	T	G	14: 53,574,853 (GRCm39)	L32V	probably damaging	Het
Tsen2	T	A	6: 115,553,864 (GRCm39)	M414K	probably damaging	Het
Tut7	T	C	13: 59,936,288 (GRCm39)	Y1271C	possibly damaging	Het
Txlna	A	T	4: 129,530,900 (GRCm39)	Y196N	probably damaging	Het
Vmn1r24	T	A	6: 57,932,736 (GRCm39)	I261F	probably benign	Het
Vmn2r106	T	C	17: 20,496,066 (GRCm39)	T553A	probably damaging	Het
Vmn2r65	A	G	7: 84,596,650 (GRCm39)	V135A	probably damaging	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
R5095:Usp44	UTSW	10	93,682,707 (GRCm39)	missense	possibly damaging	0.70
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
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'- ATCATGGTGCTAGACCTGGTG -3'
(R):5'- CATACATTAGCCAAGTATTCGGTGTTC -3'

Sequencing Primer
(F):5'- GTGGGTGTCACCTCCATCATG -3'
(R):5'- CGGTGTTCAAATGGAATCCACTG -3'

Posted On

2022-03-25