Mutagenetix > Incidental Mutation

Incidental Mutation 'R6615:Usp44'

523976

Institutional Source

Beutler Lab

Gene Symbol

Usp44

Ensembl Gene

ENSMUSG00000020020

Gene Name

ubiquitin specific peptidase 44

Synonyms

E430004F17Rik

MMRRC Submission

044738-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6615 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93667417-93693950 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93682351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 267 (V267A)

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: V267A

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.4%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Avl9	T	C	6: 56,730,870 (GRCm39)	V598A	probably benign	Het
Bcar3	T	A	3: 122,220,282 (GRCm39)	S60T	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Homo
Calm3	A	G	7: 16,651,508 (GRCm39)		probably null	Het
Ccdc113	A	C	8: 96,272,620 (GRCm39)	E242D	probably benign	Het
Celsr1	C	T	15: 85,786,315 (GRCm39)		probably null	Het
Clhc1	T	A	11: 29,528,149 (GRCm39)	M559K	possibly damaging	Het
Dhx36	T	A	3: 62,396,338 (GRCm39)	I440L	probably benign	Het
Dnah7c	A	T	1: 46,554,599 (GRCm39)	T445S	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dsc2	T	A	18: 20,165,576 (GRCm39)	H843L	possibly damaging	Het
F11	T	C	8: 45,701,811 (GRCm39)	Y333C	probably benign	Het
Fbxo41	T	C	6: 85,455,505 (GRCm39)	T560A	possibly damaging	Het
Fbxo7	A	T	10: 85,880,398 (GRCm39)	H282L	possibly damaging	Het
Gmnc	T	G	16: 26,779,278 (GRCm39)	D243A	probably benign	Het
Hdac5	C	A	11: 102,087,882 (GRCm39)		probably null	Het
Krt87	A	G	15: 101,334,443 (GRCm39)	V188A	probably benign	Het
Lpxn	G	A	19: 12,802,163 (GRCm39)	V163M	probably benign	Het
Lrrk1	A	T	7: 65,931,396 (GRCm39)	L55Q	probably damaging	Het
Ltbp2	C	T	12: 84,860,091 (GRCm39)	C621Y	probably damaging	Het
Marchf8	A	G	6: 116,382,624 (GRCm39)	E147G	probably damaging	Het
Muc16	T	G	9: 18,558,484 (GRCm39)	H2603P	unknown	Het
Nipa1	T	A	7: 55,629,571 (GRCm39)	N181Y	probably damaging	Het
Nt5el	T	A	13: 105,248,993 (GRCm39)	N402K	probably damaging	Het
Or14c45	A	G	7: 86,176,120 (GRCm39)	T52A	probably benign	Het
Or2h2c	G	A	17: 37,422,494 (GRCm39)	P127S	probably damaging	Het
Or4k37	A	G	2: 111,159,457 (GRCm39)	D231G	probably benign	Het
Or51f23c-ps1	T	C	7: 102,430,994 (GRCm39)	F104L	probably damaging	Het
Or7g35	A	G	9: 19,496,285 (GRCm39)	I151V	probably benign	Het
Pcf11	T	A	7: 92,307,090 (GRCm39)	Q1026L	probably damaging	Het
Ptch1	T	G	13: 63,687,644 (GRCm39)	K378T	possibly damaging	Het
Ptprm	C	T	17: 67,660,951 (GRCm39)		probably null	Het
Pxmp2	C	A	5: 110,425,573 (GRCm39)	W154L	possibly damaging	Het
Rdh7	T	G	10: 127,720,491 (GRCm39)	S294R	probably damaging	Het
Rexo1	C	T	10: 80,379,848 (GRCm39)	R994Q	possibly damaging	Het
Sacs	A	G	14: 61,446,383 (GRCm39)	T2810A	probably benign	Het
Serpina3c	A	T	12: 104,117,980 (GRCm39)	H119Q	possibly damaging	Het
Slc12a2	T	G	18: 58,031,200 (GRCm39)	I335R	probably damaging	Het
Slc25a13	C	T	6: 6,073,454 (GRCm39)	R468Q	probably damaging	Het
Slc5a6	C	T	5: 31,194,174 (GRCm39)	V628I	probably benign	Het
Srsf2	T	C	11: 116,743,905 (GRCm39)		probably null	Het
Sugp2	A	G	8: 70,695,420 (GRCm39)	Q131R	possibly damaging	Het
Syne1	T	C	10: 5,251,340 (GRCm39)	R2525G	probably damaging	Het
Tars3	T	C	7: 65,327,890 (GRCm39)	F533S	probably damaging	Het
Tmem8b	G	T	4: 43,682,249 (GRCm39)	G82W	probably damaging	Het
Unc13c	A	G	9: 73,837,890 (GRCm39)	I987T	possibly damaging	Het
Wac	C	A	18: 7,868,884 (GRCm39)		probably null	Het
Xkr5	T	C	8: 18,983,569 (GRCm39)	I658V	probably benign	Het
Zbtb38	A	T	9: 96,568,707 (GRCm39)	Y792*	probably null	Het

Other mutations in Usp44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4378001:Usp44	UTSW	10	93,681,517 (GRCm39)	start gained	probably benign
R0497:Usp44	UTSW	10	93,682,668 (GRCm39)	missense	possibly damaging	0.77
R0789:Usp44	UTSW	10	93,683,082 (GRCm39)	intron	probably benign
R1521:Usp44	UTSW	10	93,683,048 (GRCm39)	nonsense	probably null
R4032:Usp44	UTSW	10	93,683,127 (GRCm39)	intron	probably benign
R4212:Usp44	UTSW	10	93,682,632 (GRCm39)	missense	possibly damaging	0.55
R4755:Usp44	UTSW	10	93,682,768 (GRCm39)	missense	probably damaging	1.00
R4764:Usp44	UTSW	10	93,681,933 (GRCm39)	missense	probably benign	0.17
R5095:Usp44	UTSW	10	93,682,707 (GRCm39)	missense	possibly damaging	0.70
R5775:Usp44	UTSW	10	93,681,840 (GRCm39)	missense	possibly damaging	0.80
R6029:Usp44	UTSW	10	93,682,494 (GRCm39)	missense	probably damaging	0.96
R6193:Usp44	UTSW	10	93,683,010 (GRCm39)	intron	probably benign
R6233:Usp44	UTSW	10	93,686,202 (GRCm39)	missense	probably damaging	1.00
R6338:Usp44	UTSW	10	93,682,375 (GRCm39)	missense	probably damaging	1.00
R6374:Usp44	UTSW	10	93,692,172 (GRCm39)	missense	probably benign	0.12
R6556:Usp44	UTSW	10	93,681,870 (GRCm39)	missense	probably benign	0.20
R7099:Usp44	UTSW	10	93,686,049 (GRCm39)	missense	possibly damaging	0.95
R7224:Usp44	UTSW	10	93,681,855 (GRCm39)	missense	probably benign	0.08
R7361:Usp44	UTSW	10	93,682,330 (GRCm39)	missense	probably benign	0.00
R7576:Usp44	UTSW	10	93,682,290 (GRCm39)	missense	probably damaging	0.99
R8014:Usp44	UTSW	10	93,688,571 (GRCm39)	critical splice acceptor site	probably null
R8695:Usp44	UTSW	10	93,682,365 (GRCm39)	missense	probably damaging	1.00
R8919:Usp44	UTSW	10	93,693,775 (GRCm39)	missense	probably benign	0.00
R8950:Usp44	UTSW	10	93,682,129 (GRCm39)	missense	possibly damaging	0.93
R9144:Usp44	UTSW	10	93,681,645 (GRCm39)	missense	probably benign	0.09
R9254:Usp44	UTSW	10	93,688,635 (GRCm39)	missense	possibly damaging	0.93
R9379:Usp44	UTSW	10	93,688,635 (GRCm39)	missense	possibly damaging	0.93
R9488:Usp44	UTSW	10	93,682,851 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- TACGCTTACAAGGCTCCTCG -3'
(R):5'- TGGAGCATACGAAGCCTTTC -3'

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

Posted On

2018-06-22