Mutagenetix > Incidental Mutation

Incidental Mutation 'R8695:Usp44'

668632

Institutional Source

Beutler Lab

Gene Symbol

Usp44

Ensembl Gene

ENSMUSG00000020020

Gene Name

ubiquitin specific peptidase 44

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8695 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93831555-93858088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 93846503 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 272 (T272P)

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

probably damaging
Transcript: ENSMUST00000216224
AA Change: T272P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (78/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524J17Rik	A	G	8: 85,412,241	I73T	probably benign	Het
4930556J24Rik	A	G	11: 3,976,192		probably benign	Het
Ace	A	G	11: 105,985,145	T1010A	probably benign	Het
Adam20	A	T	8: 40,795,828	Y325F	probably benign	Het
Aff4	A	C	11: 53,368,682	N7H	probably damaging	Het
Apob	A	T	12: 8,007,830	D2104V	probably damaging	Het
Asap3	T	C	4: 136,238,411	S411P	probably benign	Het
Atxn1l	C	T	8: 109,731,830	G600D	probably damaging	Het
BC049730	A	T	7: 24,713,778	H174L	probably benign	Het
Brd3	A	T	2: 27,462,546	M124K	probably benign	Het
Bsx	A	G	9: 40,874,188	N4S	probably damaging	Het
Ccdc125	T	C	13: 100,678,044	I44T	probably benign	Het
Ccdc141	G	A	2: 77,049,619	T620I	probably benign	Het
Ccdc178	T	A	18: 22,024,752	I550F	probably benign	Het
Ccdc77	G	T	6: 120,342,001	T163N	probably damaging	Het
Cd55	A	T	1: 130,452,536	I235K	probably benign	Het
Cdc123	A	T	2: 5,821,363	M118K	possibly damaging	Het
Cep192	A	T	18: 67,818,887	K378*	probably null	Het
Chd7	C	T	4: 8,850,812	R1733C	probably damaging	Het
Crybg2	A	T	4: 134,065,455	S134C	possibly damaging	Het
Cyp2d26	A	G	15: 82,792,706		probably benign	Het
D430041D05Rik	A	G	2: 104,254,954		probably null	Het
Dyrk2	A	T	10: 118,861,017	V112E	probably benign	Het
Eppk1	A	G	15: 76,110,398	L761P	probably benign	Het
Evpl	T	C	11: 116,223,663	K1067R	probably benign	Het
Fancm	C	A	12: 65,125,173	D1862E	probably damaging	Het
Fhl2	A	G	1: 43,128,411	V174A	probably damaging	Het
Gemin4	A	T	11: 76,211,830	C702S	probably damaging	Het
Ggnbp2	T	A	11: 84,869,941	D10V	possibly damaging	Het
Glul	T	C	1: 153,903,023	V26A	probably benign	Het
Gml2	A	G	15: 74,824,240	N161S	probably benign	Het
Gnao1	C	A	8: 93,956,167	T327K	probably damaging	Het
Gpr179	A	G	11: 97,336,298	V1677A	possibly damaging	Het
Greb1l	A	T	18: 10,544,450	H1348L	probably benign	Het
Grm8	T	C	6: 28,126,031	H32R	probably benign	Het
Hk2	T	A	6: 82,739,646	M302L	probably benign	Het
Hnrnpm	C	A	17: 33,658,910	M333I	probably benign	Het
Hsd3b1	A	G	3: 98,852,907	I256T	probably damaging	Het
Irx5	G	A	8: 92,360,699	G420R	probably damaging	Het
Krt87	A	G	15: 101,434,020	V279A	probably benign	Het
Lamb2	G	A	9: 108,486,166	S848N	probably benign	Het
Mc1r	A	T	8: 123,408,377	T290S	probably benign	Het
Olfr668	A	T	7: 104,924,939	V275D	probably benign	Het
Olfr67	A	T	7: 103,787,522	C252S	possibly damaging	Het
Olfr771	T	A	10: 129,160,364	T207S	probably damaging	Het
Olfr963	A	T	9: 39,669,080	T8S	probably benign	Het
Pex6	T	C	17: 46,712,049	S184P	probably damaging	Het
Pglyrp3	A	T	3: 92,026,455	S136C	probably null	Het
Pik3r1	A	G	13: 101,757,554	S36P	probably benign	Het
Pomt2	G	T	12: 87,110,016	T782K	probably benign	Het
Ppfibp2	A	G	7: 107,685,856		probably benign	Het
Prdm9	T	C	17: 15,544,757	H587R	probably damaging	Het
Prp2	A	G	6: 132,599,969	Q73R	unknown	Het
Psmb4	T	C	3: 94,886,124	N149D	probably benign	Het
Ptprj	A	T	2: 90,471,137	I217N	possibly damaging	Het
Rasal3	A	G	17: 32,392,762	F797S	possibly damaging	Het
Rsrp1	T	A	4: 134,925,299	M188K	probably damaging	Het
Senp8	A	G	9: 59,737,216	I219T	probably damaging	Het
Serpinb10	A	T	1: 107,540,900	N91I	probably damaging	Het
Skint4	C	T	4: 112,118,067	R75C	probably damaging	Het
Slc25a48	C	A	13: 56,465,012	A241E	probably damaging	Het
Slc39a6	C	A	18: 24,603,754		probably benign	Het
Smarcc1	G	A	9: 110,173,904	R354H	probably damaging	Het
Spata21	G	C	4: 141,111,444		probably null	Het
Sptbn2	A	G	19: 4,746,696	E1774G	possibly damaging	Het
Tep1	A	T	14: 50,845,437	F1038Y	possibly damaging	Het
Thbs2	T	A	17: 14,679,701	D638V	probably benign	Het
Tmem161a	G	T	8: 70,174,397	C33F	probably damaging	Het
Trim47	T	C	11: 116,110,100	S41G	probably benign	Het
Trim56	T	A	5: 137,114,575	H29L	probably benign	Het
Ugt2b35	T	A	5: 87,008,205	H385Q	probably damaging	Het
Ugt2b37	T	A	5: 87,242,384	H401L	probably benign	Het
Usp46	C	T	5: 74,029,236	E156K	probably benign	Het
Vmn1r232	T	C	17: 20,913,847	K164E	probably benign	Het
Zan	T	A	5: 137,386,955	N5072I	unknown	Het
Zfp318	T	C	17: 46,412,650	S1860P	probably benign	Het
Zfp616	C	T	11: 74,084,884	R660W	probably benign	Het
Zfp870	C	T	17: 32,883,705	V217I	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
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'- TACGCTTACAAGGCTCCTCG -3'
(R):5'- TGGAGCATACGAAGCCTTTCTC -3'

Sequencing Primer
(F):5'- CACAATCGAAATCGTGCC -3'
(R):5'- GAGCATACGAAGCCTTTCTCTTTCTC -3'

Posted On

2021-04-30