Mutagenetix > Incidental Mutation

Incidental Mutation 'R8950:Usp44'

681583

Institutional Source

Beutler Lab

Gene Symbol

Usp44

Ensembl Gene

ENSMUSG00000020020

Gene Name

ubiquitin specific peptidase 44

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8950 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93831555-93858088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93846267 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 193 (E193G)

Ref Sequence

ENSEMBL: ENSMUSP00000092975 (fasta)

Gene Model

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

AlphaFold

Q8C2S0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095333
AA Change: E193G

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092975
Gene: ENSMUSG00000020020
AA Change: E193G

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: E193G

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,164,326	R2508G	probably benign	Het
Abca14	T	C	7: 120,224,372	F374S	possibly damaging	Het
Abca14	T	A	7: 120,224,421	Y390*	probably null	Het
Abca9	T	C	11: 110,163,380		probably null	Het
Anxa1	G	T	19: 20,375,298	S304*	probably null	Het
Aspm	G	A	1: 139,478,952	R1859Q	probably damaging	Het
Atp13a5	A	T	16: 29,378,496	N14K	probably damaging	Het
Bmpr1a	G	T	14: 34,441,191	H81N	possibly damaging	Het
Camkv	C	T	9: 107,947,097	T236I	probably damaging	Het
Carm1	T	A	9: 21,579,493	M219K	probably damaging	Het
Ccdc162	T	C	10: 41,598,511	R1352G	probably benign	Het
Cib1	A	G	7: 80,228,463	L89P	probably damaging	Het
Col6a5	C	T	9: 105,945,634	E175K	unknown	Het
Crebbp	A	G	16: 4,213,159	F22S	probably damaging	Het
Csf2rb	A	T	15: 78,348,320	D609V	probably benign	Het
Csn1s1	T	C	5: 87,676,623		probably null	Het
Dchs1	A	T	7: 105,759,005	H1873Q	probably benign	Het
Dnah1	T	C	14: 31,290,439	D1901G	probably damaging	Het
Dock10	G	T	1: 80,541,299	T1235N	probably benign	Het
Eddm3b	T	A	14: 51,116,653	S33T	probably damaging	Het
Fam151b	A	T	13: 92,474,059	M74K	probably damaging	Het
Fat1	T	A	8: 45,023,121	F1735I	probably damaging	Het
Fip1l1	T	G	5: 74,595,863	S505R	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,089,825		probably benign	Het
Gm609	A	T	16: 45,442,644	V44D	possibly damaging	Het
Gpr180	A	G	14: 118,158,040	I295V	probably benign	Het
Gtf3c2	G	A	5: 31,173,807	T175I	probably damaging	Het
Hmcn2	T	C	2: 31,354,729	Y733H	probably damaging	Het
Irs1	T	A	1: 82,286,931	Q1188L	probably benign	Het
Kcnk5	T	C	14: 20,141,978	R372G	probably benign	Het
Kdm5b	T	A	1: 134,613,926	N746K	possibly damaging	Het
Kdm7a	T	C	6: 39,146,969	I754V	probably benign	Het
Mad2l1bp	G	A	17: 46,147,965	T213I	possibly damaging	Het
Map2	G	T	1: 66,380,525	R5L	probably damaging	Het
Map4	G	A	9: 110,072,634	V781M	possibly damaging	Het
Mbd2	A	G	18: 70,580,793	D231G	probably damaging	Het
Negr1	C	A	3: 157,016,269	P160Q	probably damaging	Het
Nfya	A	T	17: 48,393,461		probably benign	Het
Nlk	T	C	11: 78,695,932	Q112R	probably benign	Het
Obscn	C	A	11: 59,056,183	A4339S	probably damaging	Het
Olfr139	A	G	11: 74,044,956	F106S	possibly damaging	Het
Olfr1451	A	T	19: 12,999,081	I32F	probably damaging	Het
Pcdhb12	A	G	18: 37,437,537	T579A	probably benign	Het
Pcdhb2	G	A	18: 37,296,662	V563M	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Piezo1	T	C	8: 122,481,990	R2545G	probably benign	Het
Plcb1	A	G	2: 135,337,519	N616D	probably damaging	Het
Pogk	A	T	1: 166,398,825	F586I	probably damaging	Het
Prkg2	T	A	5: 98,971,956	I435F	possibly damaging	Het
Prrt4	T	C	6: 29,177,666	T35A	probably damaging	Het
Rad17	A	G	13: 100,631,068	S342P	probably damaging	Het
Rpl36-ps4	A	G	17: 87,921,146	T40A	probably damaging	Het
Skint5	T	C	4: 113,517,152	T1247A	unknown	Het
Slc22a14	A	G	9: 119,169,710	L182P	possibly damaging	Het
Slc35b3	T	C	13: 38,954,121	D104G	probably damaging	Het
Sult2a1	A	G	7: 13,796,417	F266L	probably damaging	Het
Sult2a2	A	T	7: 13,733,559	M1L	probably damaging	Het
Tat	T	A	8: 109,991,705	I74N	probably damaging	Het
Trappc6a	G	T	7: 19,515,998		probably benign	Het
Twistnb	T	A	12: 33,433,527	Y93N	probably damaging	Het
Virma	C	T	4: 11,519,047	Q765*	probably null	Het
Vmn1r46	T	C	6: 89,977,071	S301P	probably damaging	Het
Vmn2r116	A	T	17: 23,401,493	I734F	probably damaging	Het
Vmn2r5	A	T	3: 64,491,101	V819D	probably damaging	Het
Vmn2r74	A	G	7: 85,957,361	I259T	probably damaging	Het
Vps13a	A	G	19: 16,745,976	I286T	probably damaging	Het
Wdr73	T	C	7: 80,900,383	I55V	probably benign	Het
Znhit2	A	T	19: 6,061,773	R183*	probably null	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
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
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'- TGACTCGGTTTTACATCCTGTG -3'
(R):5'- TCTTCCGAAGTAGGTAGCGC -3'

Sequencing Primer
(F):5'- ATGCACAGGACCGTGTTTAC -3'
(R):5'- AGGTAGCGCGGCTTTGTCC -3'

Posted On

2021-08-31