Mutagenetix > Incidental Mutation

Incidental Mutation 'R9379:Usp44'

709873

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 #

R9379 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93831555-93858088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93852773 bp (GRCm38)

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: 100.0%
10x: 99.8%
20x: 99.5%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,451,201	I136F	possibly damaging	Het
1700019D03Rik	T	A	1: 52,925,476	D31V	probably benign	Het
Abca14	G	T	7: 120,207,979	E83*	probably null	Het
Abcc5	T	C	16: 20,333,687	T1370A	probably damaging	Het
Ankhd1	T	C	18: 36,644,627	V1621A	probably benign	Het
Ano8	T	A	8: 71,483,534	Q206L	probably benign	Het
Aox3	A	T	1: 58,169,800	I831F	possibly damaging	Het
Armc4	T	C	18: 7,265,089	D426G	possibly damaging	Het
Atp2a2	T	C	5: 122,473,252	I168V	probably benign	Het
Atxn2	G	A	5: 121,747,446	V239I	probably damaging	Het
B230219D22Rik	C	A	13: 55,699,470	A132E	probably damaging	Het
Btbd17	C	A	11: 114,791,923	W321L	possibly damaging	Het
Cacna1i	T	A	15: 80,375,294	V1255E	probably damaging	Het
Camsap1	T	C	2: 25,956,306	I132V		Het
Ccdc114	A	G	7: 45,947,692	T456A	probably benign	Het
Chd7	A	G	4: 8,752,210	S236G	unknown	Het
Clasp1	CCTGCTGCTGCTGCTG	CCTGCTGCTGCTGCTGCTG	1: 118,581,427		probably benign	Het
Clasp1	TGC	TGCCGC	1: 118,581,438		probably benign	Het
Col4a1	T	A	8: 11,199,838	H1658L	unknown	Het
D430042O09Rik	T	C	7: 125,870,676	L1439P	probably damaging	Het
D630044L22Rik	A	G	17: 25,961,882	H102R	possibly damaging	Het
Dact3	G	A	7: 16,886,088	V503I	unknown	Het
Dcn	G	T	10: 97,507,781	R201L	probably damaging	Het
Dmxl1	T	C	18: 49,891,500	V1747A	possibly damaging	Het
Dnajc14	T	A	10: 128,816,874		probably null	Het
Dspp	A	T	5: 104,174,894		probably null	Het
Ep300	T	C	15: 81,648,559	V1666A	unknown	Het
Flvcr2	A	G	12: 85,803,226	I429V	probably benign	Het
Gpr158	A	G	2: 21,368,231		probably benign	Het
Grip1	G	T	10: 119,945,056	L203F	probably damaging	Het
Hoga1	T	C	19: 42,063,258	L250P	probably damaging	Het
Htr2b	A	G	1: 86,100,122	S221P	probably damaging	Het
Ighv1-24	T	C	12: 114,773,043	Y79C	possibly damaging	Het
Kcnq1	A	G	7: 143,191,432	T311A	probably damaging	Het
Kif21a	C	T	15: 90,969,827	R779Q	probably damaging	Het
Lilra6	T	C	7: 3,913,167	E231G	probably damaging	Het
Lrrc8c	T	A	5: 105,608,490	Y710*	probably null	Het
Mixl1	A	G	1: 180,694,693	S208P	probably benign	Het
Muc16	T	A	9: 18,646,171	Q2942L	unknown	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nlrp4e	C	G	7: 23,321,330	A414G	probably benign	Het
Nos1	G	C	5: 117,879,337	R255P	probably benign	Het
Nup85	T	C	11: 115,578,598	I322T	probably benign	Het
Olfr826	A	G	10: 130,180,736	M48T	possibly damaging	Het
Olfr860	T	A	9: 19,845,916	K234N	possibly damaging	Het
Olfr878	C	T	9: 37,919,151	L165F	probably damaging	Het
Olfr964-ps1	A	G	9: 39,686,818	L42P	probably damaging	Het
Osbpl9	A	T	4: 109,083,202	H178Q	probably damaging	Het
Parp14	A	G	16: 35,860,483	V260A	probably benign	Het
Plxna2	C	T	1: 194,810,166	T1777I	probably damaging	Het
Ppp3cb	T	C	14: 20,531,806	D47G	probably benign	Het
Pram1	T	C	17: 33,641,467	V336A	probably damaging	Het
Prl	T	A	13: 27,059,520	I58N	probably damaging	Het
Qrich2	T	C	11: 116,458,108	D630G	unknown	Het
Ralgapa1	G	C	12: 55,722,798	P803A	probably damaging	Het
Rtcb	A	T	10: 85,943,207		probably null	Het
Ryr2	C	T	13: 11,883,116	C131Y	probably damaging	Het
Spata7	A	G	12: 98,634,289	I54V	probably benign	Het
St6galnac3	A	G	3: 153,509,433	V28A	probably benign	Het
Stra6l	A	T	4: 45,849,093	T6S	probably benign	Het
Taf4b	C	T	18: 14,813,374	T418M	probably damaging	Het
Taf6	A	G	5: 138,183,690	I92T	possibly damaging	Het
Tcaf2	C	T	6: 42,642,583	S170N	probably benign	Het
Tfrc	A	G	16: 32,625,001	D541G	probably damaging	Het
Trav13n-3	T	G	14: 53,337,396	L32V	probably damaging	Het
Trpa1	T	C	1: 14,896,515	T542A	possibly damaging	Het
Ttc39b	A	T	4: 83,271,139	S53T	probably benign	Het
Ubap2	A	T	4: 41,216,630	S268T	possibly damaging	Het
Usp40	A	G	1: 87,954,167	V998A	probably benign	Het
Vmn2r106	T	C	17: 20,275,804	T553A	probably damaging	Het
Vmn2r65	A	G	7: 84,947,442	V135A	probably damaging	Het
Wbp2nl	T	A	15: 82,314,110	S283T	possibly damaging	Het
Wnk1	G	A	6: 119,951,717	T1092I	probably damaging	Het
Zcchc6	T	C	13: 59,788,474	Y1271C	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
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
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
R9488:Usp44	UTSW	10	93846989	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- CCATCATGGTGCTAGACCTG -3'
(R):5'- TACATTAGCCAAGTATTCGGTGTTC -3'

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

Posted On

2022-04-18