Mutagenetix > Incidental Mutation

Incidental Mutation 'R5775:Usp44'

448736

Institutional Source

Beutler Lab

Gene Symbol

Usp44

Ensembl Gene

ENSMUSG00000020020

Gene Name

ubiquitin specific peptidase 44

Synonyms

E430004F17Rik

MMRRC Submission

043374-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5775 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93667417-93693950 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93681840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 97 (S97G)

Ref Sequence

ENSEMBL: ENSMUSP00000149020 (fasta)

Gene Model

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

AlphaFold

Q8C2S0

Predicted Effect

probably benign
Transcript: ENSMUST00000095333
AA Change: S97G

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000092975
Gene: ENSMUSG00000020020
AA Change: S97G

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: S97G

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (59/61)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	A	G	12: 113,509,886 (GRCm39)	D753G	possibly damaging	Het
Arpc2	T	A	1: 74,295,108 (GRCm39)		probably null	Het
Atxn2	C	T	5: 121,951,512 (GRCm39)	T619M	probably damaging	Het
Cacna1s	T	C	1: 136,035,860 (GRCm39)	Y1120H	probably damaging	Het
Calm5	T	C	13: 3,904,435 (GRCm39)	L20S	probably damaging	Het
Carmil1	T	C	13: 24,460,520 (GRCm39)	I20V	probably benign	Het
Cd177	T	C	7: 24,451,693 (GRCm39)	E441G	probably damaging	Het
Cd63	T	A	10: 128,746,299 (GRCm39)	C9S	probably damaging	Het
Cep250	A	C	2: 155,811,294 (GRCm39)	D380A	possibly damaging	Het
Col5a3	G	T	9: 20,712,368 (GRCm39)	P509Q	unknown	Het
Cyp11b2	A	G	15: 74,725,327 (GRCm39)	V264A	probably benign	Het
Dennd6a	T	A	14: 26,340,528 (GRCm39)	L214*	probably null	Het
Dna2	A	G	10: 62,785,021 (GRCm39)	N46S	possibly damaging	Het
Elovl1	G	A	4: 118,288,094 (GRCm39)	V77I	probably benign	Het
Eml1	A	T	12: 108,472,813 (GRCm39)	Y207F	probably damaging	Het
Epha6	C	T	16: 59,639,357 (GRCm39)	R839Q	possibly damaging	Het
Erlec1	A	T	11: 30,893,848 (GRCm39)	S105T	probably benign	Het
Esp3	T	A	17: 40,944,468 (GRCm39)	S37T	possibly damaging	Het
Foxh1	G	A	15: 76,554,049 (GRCm39)	A8V	probably benign	Het
Fut1	A	C	7: 45,268,886 (GRCm39)	D280A	probably damaging	Het
Gm13998	G	T	2: 119,708,892 (GRCm39)		noncoding transcript	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
H2az1	T	C	3: 137,571,380 (GRCm39)	Y61H	probably damaging	Het
Kcns1	T	C	2: 164,006,686 (GRCm39)	I426V	probably damaging	Het
Kdm4c	T	G	4: 74,277,668 (GRCm39)	V774G	probably damaging	Het
Mrc2	G	A	11: 105,228,639 (GRCm39)	V673I	probably benign	Het
Mtnr1b	G	A	9: 15,774,168 (GRCm39)	A297V	possibly damaging	Het
Or5d43	A	T	2: 88,105,045 (GRCm39)	M116K	probably damaging	Het
Or8b40	A	T	9: 38,027,423 (GRCm39)	E110D	probably damaging	Het
Osbpl5	A	T	7: 143,258,266 (GRCm39)	V346D	probably benign	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Pgpep1	G	A	8: 71,105,101 (GRCm39)	T53M	probably damaging	Het
Pigo	T	C	4: 43,023,475 (GRCm39)	D233G	probably damaging	Het
Pmm1	A	T	15: 81,836,156 (GRCm39)	I152N	probably benign	Het
Pot1a	A	T	6: 25,757,297 (GRCm39)		probably null	Het
Ppp1r12b	G	T	1: 134,803,780 (GRCm39)	L460I	probably benign	Het
Prrc2a	T	C	17: 35,377,463 (GRCm39)	D565G	unknown	Het
Psd	C	A	19: 46,303,211 (GRCm39)	E724*	probably null	Het
Rasa2	C	T	9: 96,459,521 (GRCm39)		probably null	Het
Rsbn1	A	T	3: 103,869,888 (GRCm39)	Q783L	possibly damaging	Het
Ryr2	T	C	13: 11,784,848 (GRCm39)	Y1035C	probably damaging	Het
Sec24d	C	T	3: 123,084,109 (GRCm39)	A96V	probably benign	Het
Sec61a2	A	T	2: 5,887,585 (GRCm39)		probably null	Het
Sec62	A	G	3: 30,847,436 (GRCm39)		probably benign	Het
Tcstv2a	T	A	13: 120,725,475 (GRCm39)	C46*	probably null	Het
Tmem132b	T	A	5: 125,715,394 (GRCm39)		probably null	Het
Tnip3	A	G	6: 65,591,741 (GRCm39)	S247G	probably benign	Het
Traf3	A	G	12: 111,219,162 (GRCm39)	K263R	possibly damaging	Het
Tubgcp3	A	T	8: 12,675,056 (GRCm39)	I713N	probably damaging	Het
Unc5c	A	G	3: 141,534,281 (GRCm39)	E860G	probably damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vps37a	A	G	8: 40,982,160 (GRCm39)	H109R	probably damaging	Het
Wfikkn2	G	T	11: 94,129,114 (GRCm39)	D342E	probably benign	Het
Zfp354b	A	T	11: 50,813,647 (GRCm39)	F426Y	probably benign	Het
Zfp462	C	A	4: 55,010,590 (GRCm39)	T852N	probably damaging	Het
Zfp987	T	G	4: 146,061,505 (GRCm39)	S312R	probably benign	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
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
R6615:Usp44	UTSW	10	93,682,351 (GRCm39)	missense	possibly damaging	0.48
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'- TCCATTTGGGCTTGCCTCAG -3'
(R):5'- CTGACTGTTCGAACCAAGTTC -3'

Sequencing Primer
(F):5'- GGGCTTGCCTCAGCTGTTC -3'
(R):5'- AAGTTCGAAAGGCTTTCCCCATG -3'

Posted On

2016-12-15