Mutagenetix > Incidental Mutation

Incidental Mutation 'R4010:Usp39'

311637

Institutional Source

Beutler Lab

Gene Symbol

Usp39

Ensembl Gene

ENSMUSG00000056305

Gene Name

ubiquitin specific peptidase 39

Synonyms

SAD1, CGI-21, D6Wsu157e

MMRRC Submission

040947-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R4010 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72295749-72322190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 72313468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 241 (A241S)

Ref Sequence

ENSEMBL: ENSMUSP00000064515 (fasta)

Gene Model

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

AlphaFold

Q3TIX9

Predicted Effect

probably benign
Transcript: ENSMUST00000070345
AA Change: A241S

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000064515
Gene: ENSMUSG00000056305
AA Change: A241S

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

noncoding transcript
Transcript: ENSMUST00000154799

Predicted Effect

probably benign
Transcript: ENSMUST00000206262

Meta Mutation Damage Score

0.2319

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.6%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	C	5: 88,120,136 (GRCm39)	S298P	probably damaging	Het
Abca13	G	A	11: 9,572,013 (GRCm39)		probably benign	Het
Abcc2	A	G	19: 43,818,303 (GRCm39)	N1263S	possibly damaging	Het
Acss2	T	A	2: 155,399,548 (GRCm39)	L529Q	probably damaging	Het
Adamts12	A	G	15: 11,286,169 (GRCm39)	T793A	possibly damaging	Het
Adsl	T	C	15: 80,850,357 (GRCm39)	S359P	probably benign	Het
Ddx60	A	T	8: 62,407,569 (GRCm39)	D360V	possibly damaging	Het
Ddx60	A	T	8: 62,409,178 (GRCm39)	M405L	probably benign	Het
Frmd6	A	G	12: 70,946,327 (GRCm39)	N585S	probably benign	Het
Fxr1	G	T	3: 34,119,171 (GRCm39)	R580L	probably benign	Het
Ggt7	G	A	2: 155,342,652 (GRCm39)	T358M	probably benign	Het
Gm5435	G	A	12: 82,543,089 (GRCm39)		noncoding transcript	Het
Gm5592	C	T	7: 40,936,052 (GRCm39)	H185Y	probably benign	Het
Ifit2	G	T	19: 34,551,445 (GRCm39)	M328I	probably benign	Het
Itgae	T	A	11: 73,002,165 (GRCm39)	C90S	probably benign	Het
Kif1a	G	A	1: 92,950,131 (GRCm39)	S1424F	probably benign	Het
Map2k2	T	C	10: 80,944,769 (GRCm39)	S94P	probably damaging	Het
Marveld2	C	A	13: 100,747,936 (GRCm39)		probably null	Het
Or10a3m	A	T	7: 108,313,366 (GRCm39)	I269L	probably benign	Het
Pdcl	T	C	2: 37,242,123 (GRCm39)	Y209C	probably damaging	Het
Pde6c	A	G	19: 38,157,884 (GRCm39)	E636G	probably damaging	Het
Pggt1b	A	G	18: 46,382,003 (GRCm39)	Y260H	possibly damaging	Het
Pkhd1l1	T	A	15: 44,392,496 (GRCm39)	S1610R	possibly damaging	Het
Rel	C	T	11: 23,711,138 (GRCm39)	V10I	probably benign	Het
Rpa2	T	A	4: 132,497,960 (GRCm39)		probably null	Het
Rpain	T	G	11: 70,863,833 (GRCm39)		probably benign	Het
Rpl35rt	T	C	1: 156,193,724 (GRCm39)	V26A	probably benign	Het
Ryr1	T	C	7: 28,794,549 (GRCm39)	T1237A	probably benign	Het
Safb	T	C	17: 56,910,765 (GRCm39)		probably benign	Het
Serpina3a	A	T	12: 104,084,902 (GRCm39)	D99V	probably benign	Het
Setd2	A	G	9: 110,428,263 (GRCm39)	Q2320R	probably null	Het
Sh2d4a	C	T	8: 68,787,799 (GRCm39)	R302C	probably damaging	Het
Slc19a2	T	G	1: 164,088,451 (GRCm39)	S300A	probably damaging	Het
Slc30a5	G	A	13: 100,945,741 (GRCm39)	A537V	probably damaging	Het
Strip2	A	G	6: 29,955,584 (GRCm39)	I717V	possibly damaging	Het
Supt16	A	C	14: 52,401,898 (GRCm39)	F924C	probably damaging	Het
Tekt4	T	G	17: 25,695,460 (GRCm39)	M431R	probably damaging	Het
Trim23	A	G	13: 104,317,526 (GRCm39)		probably benign	Het
Tspear	T	C	10: 77,672,310 (GRCm39)		probably benign	Het
Vmn1r185	T	A	7: 26,311,450 (GRCm39)	L18F	possibly damaging	Het
Zfp213	T	C	17: 23,777,064 (GRCm39)	H326R	possibly damaging	Het
Zfp354c	T	A	11: 50,705,771 (GRCm39)	I435F	probably damaging	Het
Zfp618	G	A	4: 63,051,801 (GRCm39)	A861T	probably benign	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
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
R6887:Usp39	UTSW	6	72,310,140 (GRCm39)	missense	probably damaging	1.00
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'- TCATGAGGAGAGACATGCGC -3'
(R):5'- GCATCATTTTCAGAGGGTCAGTTTC -3'

Sequencing Primer
(F):5'- AGAGACATGCGCCTTGAAGTTTC -3'
(R):5'- CAGGCTGGCTTTGAACTCAGAAATC -3'

Posted On

2015-04-29