Mutagenetix > Incidental Mutation

Incidental Mutation 'R6374:Usp44'

513705

Institutional Source

Beutler Lab

Gene Symbol

Usp44

Ensembl Gene

ENSMUSG00000020020

Gene Name

ubiquitin specific peptidase 44

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6374 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93831555-93858088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93856310 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 643 (S643P)

Ref Sequence

ENSEMBL: ENSMUSP00000149020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047910] [ENSMUST00000180840] [ENSMUST00000181091] [ENSMUST00000181217] [ENSMUST00000216224]

AlphaFold

Q8C2S0

Predicted Effect

probably benign
Transcript: ENSMUST00000047910

SMART Domains

Protein: ENSMUSP00000048285
Gene: ENSMUSG00000036112

Domain	Start	End	E-Value	Type
low complexity region	24	48	N/A	INTRINSIC
low complexity region	77	108	N/A	INTRINSIC
Pfam:Peptidase_M24	167	466	1.2e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180840

SMART Domains

Protein: ENSMUSP00000138006
Gene: ENSMUSG00000036112

Domain	Start	End	E-Value	Type
low complexity region	24	48	N/A	INTRINSIC
low complexity region	77	108	N/A	INTRINSIC
Pfam:Peptidase_M24	167	466	2.8e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000181091

SMART Domains

Protein: ENSMUSP00000137904
Gene: ENSMUSG00000036112

Domain	Start	End	E-Value	Type
low complexity region	24	48	N/A	INTRINSIC
low complexity region	77	108	N/A	INTRINSIC
Pfam:Peptidase_M24	144	443	2.2e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000181217

SMART Domains

Protein: ENSMUSP00000138083
Gene: ENSMUSG00000036112

Domain	Start	End	E-Value	Type
low complexity region	24	48	N/A	INTRINSIC
low complexity region	77	108	N/A	INTRINSIC
Pfam:Peptidase_M24	177	476	2.7e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181894

Predicted Effect

probably benign
Transcript: ENSMUST00000216224
AA Change: S643P

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.4%

Validation Efficiency

99% (75/76)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	C	2: 151,472,880	S293A	possibly damaging	Het
4932415D10Rik	T	A	10: 82,288,897		probably benign	Het
5430401F13Rik	A	T	6: 131,552,929	Q162L	unknown	Het
Abca8a	A	T	11: 110,083,390	Y239*	probably null	Het
Aox3	T	C	1: 58,172,161	I959T	probably benign	Het
Atad2b	T	C	12: 5,018,002	V1000A	probably damaging	Het
Atic	C	T	1: 71,564,941	T221M	probably damaging	Het
Atp1a2	C	T	1: 172,289,375	R225H	probably damaging	Het
BC024139	A	G	15: 76,120,457		probably null	Het
Bpi	A	T	2: 158,272,054	T291S	probably damaging	Het
Ccdc170	C	T	10: 4,549,746	Q556*	probably null	Het
Cd3e	G	A	9: 45,009,363	L12F	probably benign	Het
Cdc42ep1	A	T	15: 78,847,449	R31S	probably damaging	Het
Cyp21a1	G	T	17: 34,804,136		probably null	Het
Dnase1l3	A	G	14: 7,974,115	M192T	probably damaging	Het
Dnmt1	A	T	9: 20,924,045	H330Q	possibly damaging	Het
Enah	T	C	1: 181,923,580	E232G	unknown	Het
Etnppl	C	T	3: 130,620,693	T73I	probably damaging	Het
Fam83b	T	A	9: 76,492,907	I305F	probably benign	Het
Galnt15	T	A	14: 32,058,159	I471N	probably damaging	Het
Gm19965	T	A	1: 116,822,291	N567K	probably benign	Het
Golga1	T	C	2: 39,034,068	Q435R	probably benign	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
Hao1	T	G	2: 134,523,104	D201A	probably benign	Het
Heg1	T	C	16: 33,727,129	L786P	possibly damaging	Het
Hnrnpll	A	T	17: 80,049,874	C238S	possibly damaging	Het
Hrg	A	G	16: 22,960,992	Y340C	probably damaging	Het
Kyat3	A	T	3: 142,738,237	I411F	probably damaging	Het
Myo1a	T	C	10: 127,707,680	Y202H	probably damaging	Het
Nags	T	C	11: 102,146,511	C143R	possibly damaging	Het
Ncoa6	T	C	2: 155,421,156	N453D	probably damaging	Het
Nup35	G	T	2: 80,658,386	M322I	probably benign	Het
Olfr620	A	G	7: 103,611,921	L144P	probably benign	Het
Oprl1	T	C	2: 181,715,928	V69A	probably damaging	Het
Pappa2	T	A	1: 158,956,645	Y265F	probably damaging	Het
Pcsk6	C	T	7: 65,980,155	P343L	possibly damaging	Het
Peak1	C	A	9: 56,257,666	D993Y	probably damaging	Het
Polr2a	T	C	11: 69,736,932	Y1383C	probably damaging	Het
Ppme1	A	G	7: 100,341,065	S226P	probably damaging	Het
Prom1	C	T	5: 44,055,983	C127Y	probably damaging	Het
Ptpn6	A	T	6: 124,732,569		probably null	Het
Reln	T	C	5: 22,080,714	E419G	probably benign	Het
Rnf32	C	T	5: 29,225,268	Q362*	probably null	Het
Sbspon	T	C	1: 15,883,663	D131G	probably benign	Het
Scyl3	T	C	1: 163,949,214	S392P	probably benign	Het
Shtn1	T	A	19: 59,038,296	D121V	possibly damaging	Het
Sin3a	A	G	9: 57,117,481	T1042A	probably benign	Het
Sipa1l2	A	T	8: 125,444,630	V1371D	probably damaging	Het
Slc20a2	T	C	8: 22,565,652	V584A	possibly damaging	Het
Smc6	T	A	12: 11,305,873		probably null	Het
Specc1	C	T	11: 62,156,592	T849I	possibly damaging	Het
Spta1	T	A	1: 174,214,168	L1368H	probably damaging	Het
Sqle	A	G	15: 59,316,110	E89G	possibly damaging	Het
Strbp	A	G	2: 37,603,008	V422A	probably damaging	Het
Sult6b1	G	T	17: 78,906,931	T21K	probably benign	Het
Tex15	A	G	8: 33,575,912	E1790G	probably damaging	Het
Tmem88b	T	A	4: 155,785,764		probably benign	Het
Traf3ip3	T	C	1: 193,182,010	D355G	possibly damaging	Het
Trim24	T	A	6: 37,953,549	V576E	probably benign	Het
Trim30c	C	T	7: 104,390,402	G62D	probably benign	Het
Trim66	T	G	7: 109,486,062	K100N	probably benign	Het
Tsnaxip1	A	T	8: 105,841,540	T313S	possibly damaging	Het
Ugt2b37	A	T	5: 87,242,420	I389N	probably damaging	Het
Unc13a	C	T	8: 71,641,453	V1335M	possibly damaging	Het
Urah	A	G	7: 140,835,211	T5A	probably benign	Het
Usp34	T	C	11: 23,438,914	Y2185H	probably damaging	Het
Vars2	A	G	17: 35,660,045	V631A	probably damaging	Het
Vmn2r11	G	A	5: 109,053,813	T275I	possibly damaging	Het
Vmn2r54	C	A	7: 12,615,493	V721F	probably damaging	Het
Vmn2r79	T	C	7: 87,002,290	I299T	probably benign	Het
Vps13d	T	C	4: 145,122,681	T2387A	probably damaging	Het
Washc5	A	T	15: 59,337,195	L610Q	probably benign	Het
Zbtb21	T	C	16: 97,950,368	E905G	probably damaging	Het
Zfhx4	A	G	3: 5,244,035	T774A	probably damaging	Het
Zfp534	T	C	4: 147,674,842	I457V	probably benign	Het
Zfp964	T	C	8: 69,659,344	Y29H	possibly damaging	Het
Znrf4	A	G	17: 56,511,702	F202L	probably 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
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'- TGGCGAACTTTCTTCCCTTGA -3'
(R):5'- TTTCTGTACCCTCAACCCACCAA -3'

Sequencing Primer
(F):5'- TCCTAGATGGTCAGGACGTAATAACC -3'
(R):5'- CAAAAGTCCAGCAGCACTG -3'

Posted On

2018-04-27