Mutagenetix > Incidental Mutation

Incidental Mutation 'R6029:Usp44'

480277

Institutional Source

Beutler Lab

Gene Symbol

Usp44

Ensembl Gene

ENSMUSG00000020020

Gene Name

ubiquitin specific peptidase 44

Synonyms

MMRRC Submission

044201-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6029 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93831555-93858088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 93846632 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 268 (D268N)

Ref Sequence

ENSEMBL: ENSMUSP00000092975 (fasta)

Gene Model

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

AlphaFold

Q8C2S0

Predicted Effect

probably damaging
Transcript: ENSMUST00000095333
AA Change: D268N

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000092975
Gene: ENSMUSG00000020020
AA Change: D268N

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: D315N

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

Validation Efficiency

97% (87/90)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	G	A	2: 68,694,026		probably null	Het
4933402N22Rik	A	T	5: 11,920,713	L84F	probably damaging	Het
9930021J03Rik	A	G	19: 29,754,967		probably benign	Het
Adi1	G	A	12: 28,679,319		probably benign	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Apob	A	G	12: 8,016,243	E4371G	probably damaging	Het
Ash1l	T	C	3: 88,985,019	Y1402H	probably damaging	Het
Aspm	T	G	1: 139,480,990	C2538W	possibly damaging	Het
Btbd16	T	C	7: 130,819,072	V353A	probably benign	Het
Cad	C	T	5: 31,054,983	S10L	possibly damaging	Het
Cdc42bpa	T	C	1: 180,111,787	S877P	probably damaging	Het
Cep152	A	T	2: 125,563,632	V1660D	probably benign	Het
Clrn2	G	T	5: 45,460,186	G133V	probably damaging	Het
Clstn2	T	C	9: 97,456,581	I842V	probably benign	Het
Cpt1c	C	T	7: 44,965,124	A434T	probably benign	Het
D130052B06Rik	G	T	11: 33,623,477	V70L	possibly damaging	Het
Dlg1	T	A	16: 31,793,570	V317E	probably damaging	Het
Dock10	T	C	1: 80,536,946	E1084G	possibly damaging	Het
Dync2h1	A	G	9: 7,157,646	V827A	probably benign	Het
E030030I06Rik	A	G	10: 22,148,933	L27P	unknown	Het
Ero1lb	T	A	13: 12,574,833	L39Q	probably damaging	Het
Erp27	T	C	6: 136,911,611	D123G	probably damaging	Het
Fasn	G	T	11: 120,820,909	F148L	probably damaging	Het
Fbxl5	T	C	5: 43,765,404	E218G	probably damaging	Het
Fbxw28	A	T	9: 109,329,425	D210E	probably damaging	Het
Gm10653	T	A	9: 62,841,514		probably benign	Het
Gm17067	A	G	7: 42,708,130	L316S	probably benign	Het
Gm29106	T	C	1: 118,200,260	S561P	probably damaging	Het
H2afy2	T	C	10: 61,747,762	T200A	possibly damaging	Het
Hmcn1	C	A	1: 150,632,437	K3699N	probably benign	Het
Itch	T	A	2: 155,179,089		probably null	Het
Itpr3	C	T	17: 27,098,171	A800V	probably damaging	Het
Kdm2b	A	T	5: 122,879,587	M1052K	probably damaging	Het
Kdm4b	T	C	17: 56,396,576	M712T	probably damaging	Het
Kmt5b	A	G	19: 3,802,104	E137G	probably damaging	Het
Krt33a	G	A	11: 100,012,463	T251I	probably benign	Het
Lrrc4b	G	T	7: 44,462,330	R542L	probably benign	Het
Macf1	C	A	4: 123,507,333	S653I	probably damaging	Het
Macrod2	G	A	2: 142,318,447	V408M	probably damaging	Het
Mapkapk3	G	T	9: 107,289,226	A40E	possibly damaging	Het
Mmp20	G	A	9: 7,639,301	V157I	probably benign	Het
Mrps28	T	C	3: 8,923,745	R18G	possibly damaging	Het
Msrb2	T	A	2: 19,394,311	C162S	probably damaging	Het
Nat6	A	G	9: 107,583,554	Y216C	probably damaging	Het
Nckap5	T	G	1: 126,025,786	T1078P	possibly damaging	Het
Nectin3	T	C	16: 46,436,400	Y91C	probably benign	Het
Nf2	G	T	11: 4,784,566		probably null	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr1209	T	C	2: 88,910,036	D119G	probably damaging	Het
Olfr1288	T	A	2: 111,478,965	Y60*	probably null	Het
Olfr1380	A	T	11: 49,564,601	I227F	possibly damaging	Het
Olfr149	G	A	9: 39,702,400	A123V	probably damaging	Het
Olfr537-ps1	A	T	7: 140,538,876	M120L	unknown	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Oxr1	T	G	15: 41,825,901	L507W	probably damaging	Het
Plxna2	A	G	1: 194,794,427	M1184V	probably benign	Het
Plxna2	A	T	1: 194,799,575	K1451M	probably damaging	Het
Pofut1	G	A	2: 153,259,793		probably null	Het
Ppp1r16b	T	C	2: 158,755,217	V257A	possibly damaging	Het
Prss56	G	A	1: 87,187,557	W498*	probably null	Het
Ptpru	A	G	4: 131,771,293	F1329S	probably damaging	Het
Pusl1	A	G	4: 155,889,463	F278S	probably damaging	Het
Qars	A	T	9: 108,513,690	L470F	probably damaging	Het
Rbm8a2	T	C	1: 175,978,746	D55G	probably benign	Het
Rora	T	A	9: 69,364,452	N181K	probably benign	Het
Rufy3	A	G	5: 88,627,255	D262G	probably damaging	Het
Sh3gl2	G	A	4: 85,381,414	V212M	probably damaging	Het
Sis	G	A	3: 72,928,308	T907I	probably benign	Het
Slc38a3	A	T	9: 107,652,175	I456N	probably damaging	Het
Slc4a8	T	A	15: 100,807,339	C809S	probably benign	Het
Snap91	A	T	9: 86,825,080		probably null	Het
Spaca6	A	G	17: 17,831,196	T45A	probably benign	Het
Spry1	T	C	3: 37,642,848	I80T	possibly damaging	Het
St8sia2	A	G	7: 73,960,710	L275P	possibly damaging	Het
Supt7l	C	A	5: 31,526,987		probably null	Het
Tdo2	T	A	3: 81,961,440	K304N	probably damaging	Het
Tdrd12	A	T	7: 35,485,230	Y753N	probably damaging	Het
Topbp1	A	T	9: 103,344,953	Q1341L	probably benign	Het
Trim14	G	T	4: 46,506,998	A406E	probably benign	Het
Trp63	C	T	16: 25,868,214	R393W	probably damaging	Het
Trrap	T	C	5: 144,817,679	V1932A	possibly damaging	Het
Trrap	T	C	5: 144,825,914	M2399T	possibly damaging	Het
Unc45b	A	G	11: 82,913,327	N110S	probably damaging	Het
Usp32	G	T	11: 85,025,582	H845Q	probably damaging	Het
Vmn1r18	T	G	6: 57,390,466	R34S	possibly damaging	Het
Vmn2r103	T	A	17: 19,794,216	Y423*	probably null	Het
Wapl	A	T	14: 34,739,247	E1054V	possibly damaging	Het
Zbtb8b	A	G	4: 129,428,493	Y392H	probably damaging	Het
Zdhhc2	A	T	8: 40,472,927	Q321L	probably null	Het
Zfp983	A	G	17: 21,662,485	D443G	probably benign	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
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
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'- GTGACTCCTTAATCAAACGAAGGC -3'
(R):5'- GACCACATGACTTGGAACAGG -3'

Sequencing Primer
(F):5'- AAGGCCCATGGTAACTCCTG -3'
(R):5'- CCACATGACTTGGAACAGGATATGC -3'

Posted On

2017-06-26