Mutagenetix > Incidental Mutation

Incidental Mutation 'R6887:Usp39'

536992

Institutional Source

Beutler Lab

Gene Symbol

Usp39

Ensembl Gene

ENSMUSG00000056305

Gene Name

ubiquitin specific peptidase 39

Synonyms

SAD1, CGI-21, D6Wsu157e

MMRRC Submission

044981-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R6887 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72295749-72322190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72310140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 326 (L326P)

Ref Sequence

ENSEMBL: ENSMUSP00000064515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070345]

AlphaFold

Q3TIX9

Predicted Effect

probably damaging
Transcript: ENSMUST00000070345
AA Change: L326P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064515
Gene: ENSMUSG00000056305
AA Change: L326P

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
low complexity region	48	73	N/A	INTRINSIC
ZnF_C2H2	133	154	5.07e0	SMART
Pfam:UCH	223	551	3.9e-45	PFAM
Pfam:UCH_1	224	533	1.3e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000206262

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	G	A	7: 78,742,231 (GRCm39)	V543I	probably damaging	Het
Adcy5	A	G	16: 35,118,960 (GRCm39)	I1104V	possibly damaging	Het
Adgrl4	A	T	3: 151,248,370 (GRCm39)	I681F	possibly damaging	Het
Adgrv1	T	A	13: 81,676,820 (GRCm39)	M2004L	probably benign	Het
Anapc1	A	G	2: 128,501,688 (GRCm39)	S785P	possibly damaging	Het
Ap3d1	A	T	10: 80,559,532 (GRCm39)	I242N	probably damaging	Het
Arhgap5	T	C	12: 52,565,927 (GRCm39)	L966P	probably benign	Het
Atp8a1	T	C	5: 67,895,794 (GRCm39)	T547A	probably benign	Het
Cadps	A	G	14: 12,505,811 (GRCm38)	F753S	probably damaging	Het
Cdc20b	T	C	13: 113,215,187 (GRCm39)	S252P	possibly damaging	Het
Cep63	A	G	9: 102,503,126 (GRCm39)		probably benign	Het
Chrna5	G	T	9: 54,912,417 (GRCm39)	V302L	probably benign	Het
Crtc2	A	G	3: 90,168,378 (GRCm39)	T374A	probably damaging	Het
Dmtf1	T	G	5: 9,187,149 (GRCm39)	D140A	probably damaging	Het
Exosc8	C	T	3: 54,641,120 (GRCm39)	V39M	probably damaging	Het
Fam135b	A	C	15: 71,335,164 (GRCm39)	S677A	probably damaging	Het
Hif1an	T	C	19: 44,551,828 (GRCm39)	Y93H	probably damaging	Het
Hrc	T	C	7: 44,985,088 (GRCm39)	F80L	probably benign	Het
Jmjd1c	A	G	10: 67,025,599 (GRCm39)	T139A	possibly damaging	Het
Kdr	T	G	5: 76,129,111 (GRCm39)	R178S	probably benign	Het
Lrrc61	A	C	6: 48,545,366 (GRCm39)	N63T	probably damaging	Het
Mrc1	C	T	2: 14,330,048 (GRCm39)	A1219V	possibly damaging	Het
Neto1	T	C	18: 86,516,760 (GRCm39)	V359A	probably benign	Het
Ngly1	T	C	14: 16,281,836 (GRCm38)	I364T	probably benign	Het
Nisch	C	T	14: 30,907,301 (GRCm39)		probably benign	Het
Or2y8	C	A	11: 52,036,179 (GRCm39)	M59I	probably benign	Het
Prrc2a	T	C	17: 35,374,651 (GRCm39)	D1333G	probably damaging	Het
Raly	G	T	2: 154,703,830 (GRCm39)	V134F	probably damaging	Het
Rbm6	T	C	9: 107,729,430 (GRCm39)	Y406C	probably damaging	Het
Robo4	G	C	9: 37,313,363 (GRCm39)	E6Q	possibly damaging	Het
Scnn1g	C	A	7: 121,359,667 (GRCm39)	S383R	probably benign	Het
Sgtb	T	C	13: 104,247,659 (GRCm39)	W13R	probably benign	Het
Slit3	T	C	11: 35,435,633 (GRCm39)		probably null	Het
Tbc1d32	G	A	10: 56,027,907 (GRCm39)	Q732*	probably null	Het
Tek	T	A	4: 94,693,181 (GRCm39)	C247S	probably damaging	Het
Tmf1	A	T	6: 97,153,799 (GRCm39)	D91E	probably damaging	Het
Vmn2r7	A	T	3: 64,598,248 (GRCm39)	C770S	probably damaging	Het
Wdr31	C	T	4: 62,375,802 (GRCm39)	G58R	probably benign	Het
Zfyve26	A	G	12: 79,313,223 (GRCm39)	I54T	probably damaging	Het

Other mutations in Usp39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00654:Usp39	APN	6	72,305,607 (GRCm39)	missense	probably damaging	0.99
IGL01065:Usp39	APN	6	72,316,958 (GRCm39)	missense	probably damaging	1.00
IGL01669:Usp39	APN	6	72,315,476 (GRCm39)	missense	probably damaging	0.99
IGL03089:Usp39	APN	6	72,305,622 (GRCm39)	missense	probably damaging	1.00
IGL03397:Usp39	APN	6	72,313,296 (GRCm39)	missense	possibly damaging	0.53
R0561:Usp39	UTSW	6	72,313,368 (GRCm39)	missense	probably damaging	1.00
R3236:Usp39	UTSW	6	72,315,372 (GRCm39)	splice site	probably benign
R3552:Usp39	UTSW	6	72,314,815 (GRCm39)	missense	possibly damaging	0.63
R4010:Usp39	UTSW	6	72,313,468 (GRCm39)	missense	probably benign	0.44
R4854:Usp39	UTSW	6	72,302,665 (GRCm39)	missense	probably benign	0.29
R5502:Usp39	UTSW	6	72,305,670 (GRCm39)	missense	probably benign
R6868:Usp39	UTSW	6	72,314,734 (GRCm39)	missense	possibly damaging	0.93
R7313:Usp39	UTSW	6	72,313,413 (GRCm39)	missense	probably benign	0.00
R7429:Usp39	UTSW	6	72,319,900 (GRCm39)	missense	probably damaging	1.00
R7430:Usp39	UTSW	6	72,319,900 (GRCm39)	missense	probably damaging	1.00
R7431:Usp39	UTSW	6	72,313,251 (GRCm39)	missense	possibly damaging	0.66
R7544:Usp39	UTSW	6	72,319,891 (GRCm39)	missense	probably damaging	1.00
R7548:Usp39	UTSW	6	72,321,996 (GRCm39)	missense	possibly damaging	0.93
R7741:Usp39	UTSW	6	72,315,521 (GRCm39)	splice site	probably benign
R8377:Usp39	UTSW	6	72,305,657 (GRCm39)	missense	probably benign	0.00
R8405:Usp39	UTSW	6	72,305,521 (GRCm39)	missense	probably damaging	1.00
R9333:Usp39	UTSW	6	72,314,710 (GRCm39)	missense	probably benign	0.16
R9496:Usp39	UTSW	6	72,302,759 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TACATGCTAACCCTCACTGC -3'
(R):5'- ACTGAAGTCCTTGAGGAGGG -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- CCTTGAGGAGGGCGGGC -3'

Posted On

2018-10-18