Mutagenetix > Incidental Mutation

Incidental Mutation 'R9081:Usp49'

690050

Institutional Source

Beutler Lab

Gene Symbol

Usp49

Ensembl Gene

ENSMUSG00000090115

Gene Name

ubiquitin specific peptidase 49

Synonyms

C330046L10Rik

MMRRC Submission

068900-MU

Accession Numbers

Essential gene?

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

Stock #

R9081 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47941615-47997663 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47984236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 414 (S414P)

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: S414P

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024779
Gene: ENSMUSG00000090115
AA Change: S414P

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: 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 benign
Transcript: ENSMUST00000152724
AA Change: S198P

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000120034
Gene: ENSMUSG00000090115
AA Change: S198P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	T	15: 102,248,502 (GRCm39)	V271E	probably damaging	Het
Abca1	A	G	4: 53,109,162 (GRCm39)		probably null	Het
Abcb11	C	T	2: 69,122,388 (GRCm39)	C365Y	possibly damaging	Het
Abcd2	A	T	15: 91,075,772 (GRCm39)	W14R	probably damaging	Het
Acmsd	A	G	1: 127,687,468 (GRCm39)	D250G	possibly damaging	Het
Ahnak	T	A	19: 8,985,890 (GRCm39)	D2391E	possibly damaging	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Cbr1	G	T	16: 93,406,994 (GRCm39)	G237*	probably null	Het
Cdr2l	T	A	11: 115,284,939 (GRCm39)	V425E	probably damaging	Het
Chd9	A	T	8: 91,704,144 (GRCm39)	K693*	probably null	Het
Clgn	T	G	8: 84,153,169 (GRCm39)	D590E	probably damaging	Het
Col14a1	T	A	15: 55,291,387 (GRCm39)	S952T	unknown	Het
Crip3	T	C	17: 46,740,959 (GRCm39)	L90P	probably benign	Het
Dchs1	A	G	7: 105,403,636 (GRCm39)	S2969P	probably benign	Het
Dnai2	T	A	11: 114,629,493 (GRCm39)	D173E	probably damaging	Het
Dnpep	A	T	1: 75,291,060 (GRCm39)	F257Y	probably damaging	Het
Egln2	A	G	7: 26,864,286 (GRCm39)	V213A	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Eps8	A	G	6: 137,504,415 (GRCm39)	I106T	probably benign	Het
Evi5	A	G	5: 107,963,571 (GRCm39)	F379L	probably benign	Het
Fbxo31	G	A	8: 122,281,136 (GRCm39)	R337C	probably damaging	Het
Fpgs	A	T	2: 32,577,500 (GRCm39)		probably benign	Het
Garnl3	T	G	2: 32,896,920 (GRCm39)	D573A	possibly damaging	Het
Gja8	A	G	3: 96,826,676 (GRCm39)	S329P	probably damaging	Het
Gzf1	T	A	2: 148,525,317 (GRCm39)		probably benign	Het
Hgs	T	A	11: 120,366,076 (GRCm39)		probably benign	Het
Ifi203	A	G	1: 173,757,048 (GRCm39)	I245T	unknown	Het
Ighv1-74	C	A	12: 115,766,454 (GRCm39)	W55C	probably damaging	Het
Iqcb1	A	G	16: 36,656,006 (GRCm39)	K131R	probably null	Het
Kit	A	T	5: 75,801,218 (GRCm39)	M539L	probably benign	Het
Klk1	A	G	7: 43,874,952 (GRCm39)		probably benign	Het
Krt84	C	T	15: 101,440,814 (GRCm39)	G126D	unknown	Het
Lama5	A	T	2: 179,833,930 (GRCm39)	C1473*	probably null	Het
Loxl3	T	C	6: 83,025,638 (GRCm39)	V332A	possibly damaging	Het
Mcf2l	T	A	8: 13,068,697 (GRCm39)	Y1120N	probably damaging	Het
Meioc	G	A	11: 102,565,001 (GRCm39)	V150M	probably benign	Het
Mybpc1	T	G	10: 88,389,168 (GRCm39)	Y400S	probably damaging	Het
Ncmap	T	C	4: 135,104,292 (GRCm39)		probably benign	Het
Noc2l	A	G	4: 156,326,224 (GRCm39)	Y437C	probably damaging	Het
Nol8	A	T	13: 49,814,881 (GRCm39)	M330L	probably benign	Het
Or10d4c	A	T	9: 39,558,196 (GRCm39)	Y58F	probably damaging	Het
Or5b113	C	T	19: 13,342,019 (GRCm39)	T9I	probably benign	Het
P4ha1	T	C	10: 59,184,185 (GRCm39)	Y216H	probably damaging	Het
Pamr1	A	T	2: 102,441,933 (GRCm39)	D174V	probably damaging	Het
Pdcd1	C	T	1: 93,968,880 (GRCm39)		probably null	Het
Plec	A	G	15: 76,059,908 (GRCm39)	V3343A	probably damaging	Het
Pnliprp1	A	T	19: 58,723,406 (GRCm39)	I266F	probably benign	Het
Poglut2	T	A	1: 44,153,966 (GRCm39)	Q161L	probably benign	Het
Ppp1r12b	C	T	1: 134,705,085 (GRCm39)	V868I	probably benign	Het
Ppp2r2b	A	T	18: 42,781,825 (GRCm39)	H325Q	probably benign	Het
Rif1	C	T	2: 52,000,989 (GRCm39)	T1481I	probably damaging	Het
Rnf213	A	T	11: 119,357,062 (GRCm39)	D4204V		Het
Rps6kl1	T	C	12: 85,185,881 (GRCm39)	N409S	probably damaging	Het
Rundc1	T	G	11: 101,316,053 (GRCm39)	W42G	probably damaging	Het
Sec1	C	T	7: 45,333,987 (GRCm39)		probably benign	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Shc2	T	C	10: 79,462,762 (GRCm39)		probably null	Het
Slc19a1	T	C	10: 76,877,750 (GRCm39)	V95A	possibly damaging	Het
Slc22a5	A	T	11: 53,762,447 (GRCm39)	D333E	probably damaging	Het
Specc1	A	C	11: 62,010,051 (GRCm39)	R522S	possibly damaging	Het
Syne2	C	T	12: 76,016,290 (GRCm39)	Q3291*	probably null	Het
Taar7e	G	A	10: 23,913,893 (GRCm39)	V128I	probably benign	Het
Tdrd3	A	G	14: 87,743,717 (GRCm39)	N555S	probably benign	Het
Themis	C	T	10: 28,544,582 (GRCm39)		probably benign	Het
Tjp1	A	G	7: 64,964,010 (GRCm39)	V945A	possibly damaging	Het
Tom1	G	A	8: 75,778,151 (GRCm39)	V78I	probably damaging	Het
Usp13	A	G	3: 32,935,542 (GRCm39)	T323A	probably benign	Het
Vmn1r104	G	A	7: 20,268,378 (GRCm39)	S206N	probably damaging	Het
Vps45	A	T	3: 95,940,125 (GRCm39)	V446E	probably benign	Het
Wwc1	T	C	11: 35,782,331 (GRCm39)	K222R	probably benign	Het
Zc3h13	CAGAGACCGGGACAGAAGGAGAGAC	CAGAGAC	14: 75,569,381 (GRCm39)		probably benign	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
R7648:Usp49	UTSW	17	47,985,753 (GRCm39)	missense	possibly damaging	0.93
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

Predicted Primers

PCR Primer
(F):5'- GCTCAAAGCACATTTCCCTC -3'
(R):5'- GCAGTCACAGAAAACACTGG -3'

Sequencing Primer
(F):5'- TCTGCCACGAACTGCAC -3'
(R):5'- CTGGCTATATTTAATTAGCCCAGGG -3'

Posted On

2021-11-19