Mutagenetix > Incidental Mutation

Incidental Mutation 'R4764:Usp44'

357117

Institutional Source

Beutler Lab

Gene Symbol

Usp44

Ensembl Gene

ENSMUSG00000020020

Gene Name

ubiquitin specific peptidase 44

Synonyms

MMRRC Submission

042405-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93831555-93858088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93846071 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 128 (S128T)

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: S128T

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000092975
Gene: ENSMUSG00000020020
AA Change: S128T

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
AA Change: S128T

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

99% (78/79)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	T	G	5: 146,185,219	S18R	probably benign	Het
2010315B03Rik	A	C	9: 124,293,766	V176G	probably benign	Het
Abcb1a	T	A	5: 8,715,732		probably null	Het
Acad11	C	A	9: 104,075,877	P102T	probably damaging	Het
Aggf1	T	A	13: 95,364,713	D387V	probably damaging	Het
Akr1c13	G	A	13: 4,198,497	V234I	probably benign	Het
Alg5	A	G	3: 54,746,473	Y210C	possibly damaging	Het
Arl8a	C	A	1: 135,147,099	A41E	probably benign	Het
Axin1	C	A	17: 26,173,756	T337K	possibly damaging	Het
Bdp1	A	G	13: 100,056,267	L1353P	probably damaging	Het
Bptf	A	T	11: 107,043,694	V2851E	probably damaging	Het
C9	A	T	15: 6,459,643	E160D	probably damaging	Het
Cbx6	T	C	15: 79,828,680	D182G	probably damaging	Het
Ccdc144b	T	G	3: 36,010,660	*521C	probably null	Het
Cep57l1	T	C	10: 41,721,682	R242G	possibly damaging	Het
Chst8	T	C	7: 34,675,724	D230G	probably damaging	Het
Col3a1	A	C	1: 45,346,110	D129A	probably damaging	Het
Cst12	A	G	2: 148,789,473	E38G	possibly damaging	Het
Disp1	G	T	1: 183,088,096	A920E	probably damaging	Het
Dtna	T	G	18: 23,535,149		probably null	Het
Elp3	T	A	14: 65,582,929	H97L	probably damaging	Het
Exoc8	A	G	8: 124,897,575	F18L	possibly damaging	Het
Extl3	T	C	14: 65,077,320	T138A	probably benign	Het
Foxi2	G	T	7: 135,410,667	G95C	probably damaging	Het
Foxj2	G	T	6: 122,833,271	Q196H	probably benign	Het
Frem1	A	T	4: 82,989,189	D811E	probably damaging	Het
Frmd4a	A	T	2: 4,603,448	E709V	probably damaging	Het
Fscn3	T	A	6: 28,436,201	*499K	probably null	Het
Galc	C	T	12: 98,242,744	G217D	possibly damaging	Het
Gm5592	G	T	7: 41,216,118		probably benign	Het
Hnrnpul1	A	G	7: 25,743,011	S269P	probably benign	Het
Hrh1	T	C	6: 114,480,535	V259A	probably benign	Het
Lef1	T	C	3: 131,184,733	S167P	probably benign	Het
Mtf2	T	C	5: 108,093,352	I248T	probably benign	Het
Muc2	C	T	7: 141,745,608	T130M	possibly damaging	Het
Myo16	T	C	8: 10,435,880	F653S	probably damaging	Het
Myo1e	T	C	9: 70,343,135		probably null	Het
Myo5a	G	T	9: 75,116,336		probably benign	Het
Nlrp1b	T	A	11: 71,182,663	D118V	probably damaging	Het
Npat	T	C	9: 53,572,620	F1412S	probably damaging	Het
Olfr1377	G	A	11: 50,984,775	E25K	probably benign	Het
Olfr884	T	G	9: 38,048,140	L306R	probably benign	Het
Onecut3	G	T	10: 80,495,707	A234S	unknown	Het
Osbpl6	T	A	2: 76,546,000	I73K	probably damaging	Het
Otog	C	T	7: 46,288,519	T1884I	probably benign	Het
Pax6	C	A	2: 105,696,502	P251Q	probably benign	Het
Pias4	A	G	10: 81,164,034	Y62H	possibly damaging	Het
Pknox1	T	A	17: 31,590,713	V97D	possibly damaging	Het
Plekhf1	A	G	7: 38,221,598	V182A	probably damaging	Het
Plscr4	T	C	9: 92,484,780	V149A	probably damaging	Het
Polr2l	A	T	7: 141,473,396	L35Q	probably damaging	Het
Ppp3ca	T	C	3: 136,890,489	I305T	probably damaging	Het
Ptprg	G	A	14: 12,122,068	A311T	probably benign	Het
Raet1e	T	G	10: 22,181,332	I185R	probably damaging	Het
Rims1	A	C	1: 22,479,462	V520G	probably damaging	Het
Rp1	A	T	1: 4,345,878	D1670E	probably damaging	Het
Rps6ka1	A	T	4: 133,860,557	I352N	probably damaging	Het
Rtp3	T	C	9: 110,987,350		probably benign	Het
Ryr3	T	A	2: 112,733,031		probably null	Het
Sall3	A	G	18: 80,974,476	V79A	probably damaging	Het
Sdsl	C	T	5: 120,462,054	V93M	probably damaging	Het
Slc7a13	A	G	4: 19,819,390	N197D	probably benign	Het
Slit1	T	A	19: 41,721,044	R137*	probably null	Het
Stxbp5	C	A	10: 9,770,623	R115L	probably damaging	Het
Tcea1	G	A	1: 4,894,944	R290H	probably damaging	Het
Tmem132e	A	T	11: 82,434,512	T113S	probably damaging	Het
Tpp1	A	T	7: 105,749,251	I286N	probably damaging	Het
Trio	G	A	15: 27,732,538	R3086*	probably null	Het
Usp22	T	A	11: 61,160,636	N294Y	probably damaging	Het
Zc3h7b	T	C	15: 81,769,183		probably null	Het
Zfhx2	T	C	14: 55,066,915	Y1204C	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
R4032:Usp44	UTSW	10	93847265	intron	probably benign
R4212:Usp44	UTSW	10	93846770	missense	possibly damaging	0.55
R4755:Usp44	UTSW	10	93846906	missense	probably damaging	1.00
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
R8014:Usp44	UTSW	10	93852709	critical splice acceptor site	probably null
R8695:Usp44	UTSW	10	93846503	missense	probably damaging	1.00
R8919:Usp44	UTSW	10	93857913	missense	probably benign	0.00
R8950:Usp44	UTSW	10	93846267	missense	possibly damaging	0.93
R9144:Usp44	UTSW	10	93845783	missense	probably benign	0.09
R9254:Usp44	UTSW	10	93852773	missense	possibly damaging	0.93
R9379:Usp44	UTSW	10	93852773	missense	possibly damaging	0.93
R9488:Usp44	UTSW	10	93846989	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- CCTTCGAGGTGAACGACATG -3'
(R):5'- AGCTCGGCTTTCATCTGCTG -3'

Sequencing Primer
(F):5'- TCGAGGTGAACGACATGTACGC -3'
(R):5'- GGCTTTCATCTGCTGCTCCAAC -3'

Posted On

2015-11-11