Mutagenetix > Incidental Mutation

Incidental Mutation 'R7648:Usp49'

590666

Institutional Source

Beutler Lab

Gene Symbol

Usp49

Ensembl Gene

ENSMUSG00000090115

Gene Name

ubiquitin specific peptidase 49

Synonyms

C330046L10Rik

MMRRC Submission

045726-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R7648 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47941615-47997663 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 47985753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 487 (N487I)

Ref Sequence

ENSEMBL: ENSMUSP00000024779 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024779] [ENSMUST00000132397] [ENSMUST00000145314] [ENSMUST00000152724]

AlphaFold

Q6P9L4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024779
AA Change: N487I

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024779
Gene: ENSMUSG00000090115
AA Change: N487I

Domain	Start	End	E-Value	Type
ZnF_UBP	25	74	4.21e-17	SMART
coiled coil region	165	203	N/A	INTRINSIC
low complexity region	224	237	N/A	INTRINSIC
Pfam:UCH	249	651	5.4e-61	PFAM
Pfam:UCH_1	337	633	3.8e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131550

Predicted Effect

probably benign
Transcript: ENSMUST00000132397

SMART Domains

Protein: ENSMUSP00000117658
Gene: ENSMUSG00000023984

Domain	Start	End	E-Value	Type
Pfam:Med20	1	149	1.6e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145314

Predicted Effect

probably damaging
Transcript: ENSMUST00000152724
AA Change: N271I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120034
Gene: ENSMUSG00000090115
AA Change: N271I

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
Pfam:UCH	33	374	2.5e-40	PFAM
Pfam:UCH_1	119	374	1.5e-10	PFAM

Meta Mutation Damage Score

0.1192

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	C	7: 41,261,886 (GRCm39)	V46A	possibly damaging	Het
Asb13	C	A	13: 3,699,332 (GRCm39)	N177K	probably damaging	Het
Asprv1	A	G	6: 86,605,852 (GRCm39)	T233A	probably damaging	Het
Atad2b	T	A	12: 5,077,182 (GRCm39)		probably null	Het
Atxn2	G	T	5: 121,934,440 (GRCm39)	V880F	probably damaging	Het
Car14	T	C	3: 95,805,507 (GRCm39)	N322S	probably benign	Het
Cdc42bpb	T	C	12: 111,343,587 (GRCm39)	E40G	probably damaging	Het
Ceacam16	G	T	7: 19,586,203 (GRCm39)	A103E	unknown	Het
Cnnm2	A	G	19: 46,866,339 (GRCm39)	D829G	probably damaging	Het
Cpt1b	C	T	15: 89,305,570 (GRCm39)	A382T	probably damaging	Het
Crygc	A	G	1: 65,112,484 (GRCm39)	F30S	probably damaging	Het
Cstf2t	A	G	19: 31,060,992 (GRCm39)	Q176R	possibly damaging	Het
Ctif	A	T	18: 75,770,213 (GRCm39)	H57Q	probably benign	Het
Cyp2c40	A	G	19: 39,792,289 (GRCm39)	*195Q	probably null	Het
Cyp2j8	T	A	4: 96,387,840 (GRCm39)	D207V	probably damaging	Het
Ddx49	A	G	8: 70,750,605 (GRCm39)	V123A	possibly damaging	Het
E4f1	A	T	17: 24,664,422 (GRCm39)	I456K	probably benign	Het
Eif4b	T	C	15: 101,997,435 (GRCm39)	S317P	unknown	Het
Enam	A	T	5: 88,652,016 (GRCm39)	Q1175L	possibly damaging	Het
Eppk1	T	C	15: 75,994,871 (GRCm39)	Y670C	probably benign	Het
Fam163b	G	T	2: 27,002,752 (GRCm39)	Q82K	probably benign	Het
Fam193a	A	T	5: 34,588,526 (GRCm39)	K358N	probably damaging	Het
Gls	C	A	1: 52,235,939 (GRCm39)	R392L	probably damaging	Het
Gramd1c	A	G	16: 43,810,232 (GRCm39)	V247A	probably damaging	Het
Gucy1a1	C	T	3: 82,016,014 (GRCm39)	E325K	possibly damaging	Het
Hectd4	T	C	5: 121,392,434 (GRCm39)	C233R	possibly damaging	Het
Ice1	A	G	13: 70,737,916 (GRCm39)	V2177A	possibly damaging	Het
Kif28	A	G	1: 179,536,989 (GRCm39)	V498A	possibly damaging	Het
Klhdc7a	T	C	4: 139,693,250 (GRCm39)	S566G	possibly damaging	Het
Mlph	G	A	1: 90,861,248 (GRCm39)		probably null	Het
Mndal	T	A	1: 173,684,961 (GRCm39)	Y536F	probably benign	Het
Mrgpra2a	A	T	7: 47,076,411 (GRCm39)	C282*	probably null	Het
Msantd5	G	A	11: 51,125,613 (GRCm39)	E179K	possibly damaging	Het
Msh3	A	T	13: 92,410,536 (GRCm39)	I684N	probably damaging	Het
Mylk	G	C	16: 34,699,894 (GRCm39)	S419T	probably benign	Het
Nfxl1	T	C	5: 72,680,879 (GRCm39)	K747R	probably benign	Het
Nup98	T	G	7: 101,773,404 (GRCm39)	H1641P	possibly damaging	Het
Or8b35	A	C	9: 37,903,856 (GRCm39)	T18P	probably damaging	Het
Pcm1	A	G	8: 41,728,736 (GRCm39)	N570D	probably damaging	Het
Plekhh1	T	A	12: 79,101,905 (GRCm39)	V325E	probably benign	Het
Rabl3	A	T	16: 37,384,120 (GRCm39)	I176F	probably damaging	Het
Relb	T	C	7: 19,353,767 (GRCm39)	E37G	possibly damaging	Het
Slc4a7	G	A	14: 14,773,348 (GRCm38)	E773K	probably benign	Het
Tars2	G	A	3: 95,658,294 (GRCm39)	T177I	probably benign	Het
Tenm2	T	A	11: 35,997,563 (GRCm39)	N842I	probably damaging	Het
Tmem175	A	G	5: 108,792,432 (GRCm39)	E236G	possibly damaging	Het
Trank1	A	G	9: 111,220,753 (GRCm39)	T2497A	probably benign	Het
Trf	A	G	9: 103,105,168 (GRCm39)	V48A	probably benign	Het
Ttc28	A	G	5: 111,331,258 (GRCm39)	K493E	possibly damaging	Het
Unc50	T	C	1: 37,470,402 (GRCm39)	S9P	probably benign	Het
Uso1	T	A	5: 92,341,861 (GRCm39)		probably null	Het
Xab2	T	C	8: 3,660,638 (GRCm39)	D768G	probably benign	Het
Xcr1	T	C	9: 123,685,657 (GRCm39)	E35G	possibly damaging	Het

Other mutations in Usp49

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00721:Usp49	APN	17	47,991,628 (GRCm39)	missense	probably damaging	1.00
R0605:Usp49	UTSW	17	47,985,851 (GRCm39)	splice site	probably null
R0919:Usp49	UTSW	17	47,983,376 (GRCm39)	missense	probably benign	0.17
R1167:Usp49	UTSW	17	47,983,151 (GRCm39)	missense	possibly damaging	0.94
R1675:Usp49	UTSW	17	47,984,335 (GRCm39)	missense	probably damaging	1.00
R1733:Usp49	UTSW	17	47,983,238 (GRCm39)	missense	probably damaging	1.00
R2344:Usp49	UTSW	17	47,983,828 (GRCm39)	missense	probably damaging	1.00
R3737:Usp49	UTSW	17	47,983,243 (GRCm39)	missense	probably damaging	1.00
R4078:Usp49	UTSW	17	47,985,674 (GRCm39)	missense	probably damaging	1.00
R5079:Usp49	UTSW	17	47,984,146 (GRCm39)	missense	possibly damaging	0.77
R6197:Usp49	UTSW	17	47,984,272 (GRCm39)	missense	possibly damaging	0.66
R6244:Usp49	UTSW	17	47,983,827 (GRCm39)	nonsense	probably null
R6303:Usp49	UTSW	17	47,991,747 (GRCm39)	missense	probably damaging	0.98
R6536:Usp49	UTSW	17	47,990,617 (GRCm39)	missense	probably damaging	1.00
R7207:Usp49	UTSW	17	47,989,802 (GRCm39)	missense	probably benign	0.06
R7304:Usp49	UTSW	17	47,983,796 (GRCm39)	missense	possibly damaging	0.78
R7418:Usp49	UTSW	17	47,983,093 (GRCm39)	nonsense	probably null
R7508:Usp49	UTSW	17	47,983,205 (GRCm39)	missense	probably benign	0.44
R7705:Usp49	UTSW	17	47,989,873 (GRCm39)	missense	probably damaging	1.00
R8529:Usp49	UTSW	17	47,983,037 (GRCm39)	missense	probably damaging	0.98
R9081:Usp49	UTSW	17	47,984,236 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AGCACATAGAATTTGTTCCAGTGC -3'
(R):5'- ACTTAGTGCTGTCAGTGTCAC -3'

Sequencing Primer
(F):5'- ATTAAGCTTTTTGGGAGAAGCAG -3'
(R):5'- CACTGTTGACTGGAGGGTC -3'

Posted On

2019-10-24