Mutagenetix > Incidental Mutation

Incidental Mutation 'R7548:Usp39'

584304

Institutional Source

Beutler Lab

Gene Symbol

Usp39

Ensembl Gene

ENSMUSG00000056305

Gene Name

ubiquitin specific peptidase 39

Synonyms

SAD1, CGI-21, D6Wsu157e

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R7548 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72318678-72345184 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72345013 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 46 (S46N)

Ref Sequence

ENSEMBL: ENSMUSP00000064515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070345] [ENSMUST00000077783]

AlphaFold

Q3TIX9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070345
AA Change: S46N

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000064515
Gene: ENSMUSG00000056305
AA Change: S46N

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: ENSMUST00000077783

SMART Domains

Protein: ENSMUSP00000076957
Gene: ENSMUSG00000058706

Domain	Start	End	E-Value	Type
Pfam:UPF0561	1	126	4.4e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000206262

Meta Mutation Damage Score

0.0995

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	G	A	5: 114,877,998	S146N	possibly damaging	Het
Acr	T	C	15: 89,574,393	S426P	possibly damaging	Het
Arhgap8	C	A	15: 84,757,058	P175Q	possibly damaging	Het
Arl6ip1	A	T	7: 118,126,510	I59N	probably damaging	Het
Atp2b4	A	T	1: 133,701,641	*81K	probably null	Het
Atp8a1	T	A	5: 67,815,728	R26*	probably null	Het
Atp8b4	T	A	2: 126,389,342	Q453L	probably benign	Het
B4galt4	A	G	16: 38,754,066	E134G	probably damaging	Het
Bcl9	G	A	3: 97,205,893	T1082I	probably damaging	Het
Catsperg2	A	G	7: 29,709,826	F617L	probably benign	Het
Ccdc15	T	C	9: 37,277,427	N800S	probably benign	Het
Cd300ld	T	C	11: 114,987,422	D88G	probably benign	Het
Ceacam2	A	T	7: 25,530,533	V216E	probably benign	Het
Cecr2	T	A	6: 120,761,714	M356K		Het
Cenpm	T	C	15: 82,244,679	M1V	probably null	Het
Ces2e	A	G	8: 104,931,906	E401G	probably benign	Het
Cib3	C	A	8: 72,207,197	L65F	probably damaging	Het
Clip4	C	G	17: 71,789,968	T29R	probably benign	Het
Cnot7	A	G	8: 40,500,833	I131T	probably damaging	Het
Cntn5	A	T	9: 9,673,410		probably null	Het
Col11a1	A	C	3: 114,123,760	H732P	unknown	Het
Coq4	A	T	2: 29,795,408	T145S	possibly damaging	Het
Cwf19l1	T	C	19: 44,110,550	D527G	probably benign	Het
Cyp3a25	T	C	5: 145,986,925	I303V	probably damaging	Het
Dab2	C	T	15: 6,429,918	T437I	possibly damaging	Het
Dlc1	A	G	8: 36,584,655	S190P	probably benign	Het
Dnah6	G	A	6: 73,027,440	L3847F	probably damaging	Het
Dnmbp	T	C	19: 43,889,399	E411G	probably benign	Het
Dpp8	T	C	9: 65,037,235	Y95H	probably damaging	Het
Emb	T	A	13: 117,272,054	D310E	possibly damaging	Het
Eml4	C	A	17: 83,425,337	Q140K	probably benign	Het
Epb41l3	T	C	17: 69,210,276	S100P	probably damaging	Het
Fat4	A	T	3: 38,981,114	T2972S	probably benign	Het
Fignl2	T	C	15: 101,053,198	E401G	unknown	Het
Fryl	T	A	5: 73,191,762	D19V	unknown	Het
Gck	C	T	11: 5,902,040	G16R		Het
Gm3371	T	C	14: 44,410,688	M1V	probably null	Het
Hlcs	T	A	16: 94,133,017	K661*	probably null	Het
Il17re	C	G	6: 113,466,387	P363A	probably damaging	Het
Kif24	C	T	4: 41,423,601	E217K	possibly damaging	Het
Klhdc7b	T	C	15: 89,388,704	I605T	probably damaging	Het
Krt31	T	C	11: 100,049,520	T170A	probably damaging	Het
Lgals3bp	T	C	11: 118,396,843	D126G	probably benign	Het
Lig1	T	A	7: 13,301,418	F601Y	possibly damaging	Het
Lrp6	A	G	6: 134,507,508	I384T	probably damaging	Het
Mfap5	A	T	6: 122,526,034	T102S	probably benign	Het
Mfsd6	A	G	1: 52,663,287	F600S	possibly damaging	Het
Nlrp4a	G	A	7: 26,450,179	E404K	probably damaging	Het
Nme3	T	C	17: 24,896,548	L12P	probably damaging	Het
Nxpe5	A	T	5: 138,251,231	T428S	probably benign	Het
Olfr1228	T	C	2: 89,249,086	T191A	probably benign	Het
Olfr385	G	A	11: 73,588,976	T254I	possibly damaging	Het
Psmc6	T	C	14: 45,334,918	Y110H	probably benign	Het
Pthlh	T	A	6: 147,257,155	R102S	possibly damaging	Het
Ric8b	G	T	10: 84,947,872	S198I	probably damaging	Het
Rrp7a	C	A	15: 83,117,670	R212S	possibly damaging	Het
Rubcnl	T	C	14: 75,042,352	Y392H	probably benign	Het
Sag	G	A	1: 87,844,916	V369I	probably benign	Het
Sar1b	A	G	11: 51,789,267	E140G	probably benign	Het
Sema3d	T	A	5: 12,577,816	M658K	unknown	Het
Skor2	C	T	18: 76,860,905	S774F	possibly damaging	Het
Slc1a6	G	T	10: 78,814,431	R501L	probably damaging	Het
Spata31d1b	A	G	13: 59,716,654	M539V	probably benign	Het
Spocd1	T	C	4: 129,929,809	L133P		Het
Sptlc1	A	T	13: 53,367,932	N96K	possibly damaging	Het
Stox1	A	T	10: 62,666,167	S205T	probably damaging	Het
Tec	T	C	5: 72,760,350	M509V	probably damaging	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Ttc34	T	A	4: 154,856,359	L499Q	probably damaging	Het
Uqcc1	A	G	2: 155,909,389	C120R	probably damaging	Het
Zbtb5	T	C	4: 44,994,724	E220G	probably benign	Het
Zfp287	A	T	11: 62,713,875	C735*	probably null	Het

Other mutations in Usp39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00654:Usp39	APN	6	72328624	missense	probably damaging	0.99
IGL01065:Usp39	APN	6	72339975	missense	probably damaging	1.00
IGL01669:Usp39	APN	6	72338493	missense	probably damaging	0.99
IGL03089:Usp39	APN	6	72328639	missense	probably damaging	1.00
IGL03397:Usp39	APN	6	72336313	missense	possibly damaging	0.53
R0561:Usp39	UTSW	6	72336385	missense	probably damaging	1.00
R3236:Usp39	UTSW	6	72338389	splice site	probably benign
R3552:Usp39	UTSW	6	72337832	missense	possibly damaging	0.63
R4010:Usp39	UTSW	6	72336485	missense	probably benign	0.44
R4854:Usp39	UTSW	6	72325682	missense	probably benign	0.29
R5502:Usp39	UTSW	6	72328687	missense	probably benign
R6868:Usp39	UTSW	6	72337751	missense	possibly damaging	0.93
R6887:Usp39	UTSW	6	72333157	missense	probably damaging	1.00
R7313:Usp39	UTSW	6	72336430	missense	probably benign	0.00
R7429:Usp39	UTSW	6	72342917	missense	probably damaging	1.00
R7430:Usp39	UTSW	6	72342917	missense	probably damaging	1.00
R7431:Usp39	UTSW	6	72336268	missense	possibly damaging	0.66
R7544:Usp39	UTSW	6	72342908	missense	probably damaging	1.00
R7741:Usp39	UTSW	6	72338538	splice site	probably benign
R8377:Usp39	UTSW	6	72328674	missense	probably benign	0.00
R8405:Usp39	UTSW	6	72328538	missense	probably damaging	1.00
R9333:Usp39	UTSW	6	72337727	missense	probably benign	0.16
R9496:Usp39	UTSW	6	72325776	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTTCAAGTTCCTGAGACCCGTC -3'
(R):5'- ACTTCTGATTGGCTGCTTGC -3'

Sequencing Primer
(F):5'- GACCCGTCTTTAAAAATATAGGAGG -3'
(R):5'- CTTGCTGCCCGTGCTCG -3'

Posted On

2019-10-17