Mutagenetix > Incidental Mutation

Incidental Mutation 'R7705:Usp49'

594257

Institutional Source

Beutler Lab

Gene Symbol

Usp49

Ensembl Gene

ENSMUSG00000090115

Gene Name

ubiquitin specific peptidase 49

Synonyms

C330046L10Rik

MMRRC Submission

045766-MU

Accession Numbers

Essential gene?

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

Stock #

R7705 (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 47989873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 553 (F553L)

Ref Sequence

ENSEMBL: ENSMUSP00000024779 (fasta)

Gene Model

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

AlphaFold

Q6P9L4

Predicted Effect

probably damaging
Transcript: ENSMUST00000024779
AA Change: F553L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000024779
Gene: ENSMUSG00000090115
AA Change: F553L

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 damaging
Transcript: ENSMUST00000152724
AA Change: F337L

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

SMART Domains

Protein: ENSMUSP00000120034
Gene: ENSMUSG00000090115
AA Change: F337L

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: 99.3%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	G	A	3: 59,784,168 (GRCm39)	A214T	probably benign	Het
Abcb9	G	T	5: 124,220,018 (GRCm39)	Y342*	probably null	Het
Acad9	C	T	3: 36,142,675 (GRCm39)	T470M	probably benign	Het
Ankmy2	A	G	12: 36,245,107 (GRCm39)	E379G	probably benign	Het
Cand1	A	G	10: 119,048,343 (GRCm39)		probably null	Het
Ccdc171	A	G	4: 83,476,193 (GRCm39)	T203A	possibly damaging	Het
Cpeb4	A	G	11: 31,822,327 (GRCm39)	T14A	probably damaging	Het
Cplane1	T	G	15: 8,211,736 (GRCm39)	F359V	probably damaging	Het
Crtap	A	T	9: 114,210,747 (GRCm39)	C276S	probably damaging	Het
Csf2rb2	T	C	15: 78,168,774 (GRCm39)	I794V	probably benign	Het
Ctsf	T	G	19: 4,906,567 (GRCm39)	F165V	probably damaging	Het
Cux2	T	A	5: 122,007,736 (GRCm39)	M642L	probably benign	Het
Dpep1	T	C	8: 123,927,460 (GRCm39)	V338A	possibly damaging	Het
Dytn	A	G	1: 63,717,948 (GRCm39)	L29P	probably damaging	Het
E2f3	G	A	13: 30,169,306 (GRCm39)	R116C	probably benign	Het
Edc3	T	C	9: 57,647,197 (GRCm39)	V282A	probably benign	Het
Epha1	A	G	6: 42,339,602 (GRCm39)	V630A	probably damaging	Het
Erc1	A	G	6: 119,801,564 (GRCm39)	I151T	probably benign	Het
Fam83h	C	T	15: 75,875,699 (GRCm39)	R546H	probably damaging	Het
Fbxl14	A	T	6: 119,457,742 (GRCm39)	K308*	probably null	Het
Fbxw24	A	T	9: 109,437,516 (GRCm39)		probably null	Het
Gldn	T	A	9: 54,245,976 (GRCm39)	M509K	probably benign	Het
Gpr139	T	C	7: 118,743,866 (GRCm39)	I240V	probably benign	Het
Herc1	G	T	9: 66,347,116 (GRCm39)	M1990I	possibly damaging	Het
Hmgcr	A	G	13: 96,793,231 (GRCm39)	I467T	probably benign	Het
Isl2	T	C	9: 55,449,685 (GRCm39)	F85L	probably benign	Het
Lat	T	C	7: 125,963,612 (GRCm39)	N197D	probably damaging	Het
Marchf1	T	C	8: 66,921,169 (GRCm39)	V282A	probably benign	Het
Meiosin	T	A	7: 18,835,044 (GRCm39)	D393V	unknown	Het
Mrpl9	A	G	3: 94,351,075 (GRCm39)	H85R	possibly damaging	Het
Mterf2	G	T	10: 84,956,381 (GRCm39)	A81E	probably damaging	Het
Mtr	A	G	13: 12,264,782 (GRCm39)	C107R	probably benign	Het
Nlrp4c	T	A	7: 6,075,635 (GRCm39)	V642E	probably damaging	Het
Or5b12b	A	G	19: 12,861,871 (GRCm39)	I209V	probably benign	Het
Or6c212	T	A	10: 129,559,018 (GRCm39)	I132F	probably benign	Het
Pdik1l	A	G	4: 134,006,804 (GRCm39)	S112P	unknown	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Rest	T	A	5: 77,416,119 (GRCm39)	L111Q	probably damaging	Het
Slc28a2b	A	C	2: 122,352,110 (GRCm39)		probably null	Het
Spg7	A	C	8: 123,800,617 (GRCm39)	D169A	possibly damaging	Het
Syt3	T	C	7: 44,042,083 (GRCm39)	V314A	possibly damaging	Het
Tbc1d20	G	C	2: 152,150,004 (GRCm39)	G144R	probably damaging	Het
Tlk1	A	T	2: 70,617,016 (GRCm39)		probably null	Het
Tmem147	T	G	7: 30,427,716 (GRCm39)		probably null	Het
Trip12	A	T	1: 84,755,170 (GRCm39)	D401E	probably damaging	Het
Ulbp1	A	G	10: 7,395,685 (GRCm39)	S291P	unknown	Het
Usp19	A	G	9: 108,379,112 (GRCm39)	D1286G	possibly damaging	Het
Zfp352	A	G	4: 90,113,512 (GRCm39)	T551A	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
R7648:Usp49	UTSW	17	47,985,753 (GRCm39)	missense	possibly damaging	0.93
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'- TAGGCACTGCATTCAGGCTG -3'
(R):5'- TCAGACAGTAAGTAGGTGCACG -3'

Sequencing Primer
(F):5'- CACTGCATTCAGGCTGGGAAG -3'
(R):5'- CAGTAAGTAGGTGCACGATAGAAAAG -3'

Posted On

2019-11-12