Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01669:Usp39'

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103422

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp39

Ensembl Gene

ENSMUSG00000056305

Gene Name

ubiquitin specific peptidase 39

Synonyms

SAD1, CGI-21, D6Wsu157e

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.967) question?

Stock #

IGL01669

Quality Score

Status

Chromosome

Chromosomal Location

72318678-72345184 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72338493 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 156 (V156A)

Ref Sequence

ENSEMBL: ENSMUSP00000064515 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000070345
AA Change: V156A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000064515
Gene: ENSMUSG00000056305
AA Change: V156A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl4	G	T	X: 142,343,188	D313E	probably damaging	Het
Aifm3	A	C	16: 17,503,541	K453T	probably benign	Het
Anks1b	T	C	10: 90,897,238		probably benign	Het
Arfgef1	T	C	1: 10,159,615	D1287G	probably damaging	Het
Bcl3	G	A	7: 19,812,491	Q140*	probably null	Het
Bnipl	T	G	3: 95,242,734	R316S	probably damaging	Het
Cacna1i	T	A	15: 80,391,757	H1916Q	probably benign	Het
Ccdc171	C	T	4: 83,681,195	A749V	probably damaging	Het
Ceacam18	G	A	7: 43,645,515	G333E	probably damaging	Het
Cul7	G	T	17: 46,658,715	M969I	possibly damaging	Het
Cylc2	A	G	4: 51,228,360	T144A	probably benign	Het
Cyp2c50	A	T	19: 40,098,051	H294L	probably damaging	Het
D430041D05Rik	T	C	2: 104,254,961	K1081R	probably damaging	Het
D930020B18Rik	A	G	10: 121,683,961	K456R	probably benign	Het
Drd2	A	G	9: 49,402,089	N186S	possibly damaging	Het
Fanci	A	T	7: 79,449,177	E1306D	probably benign	Het
Fbxl21	T	A	13: 56,527,709		probably benign	Het
Galk2	T	A	2: 125,887,887	Y63N	probably damaging	Het
Git2	T	C	5: 114,767,105	D97G	probably damaging	Het
Gm8258	T	A	5: 104,776,074		noncoding transcript	Het
Irf4	G	T	13: 30,757,471	S270I	probably damaging	Het
Itgb3	C	A	11: 104,633,390		probably benign	Het
Itpr2	A	C	6: 146,180,229	I2299R	probably damaging	Het
Lig4	T	C	8: 9,973,673	I36V	probably benign	Het
Nedd9	A	G	13: 41,338,635	V133A	probably damaging	Het
Nup133	A	C	8: 123,939,130	Y185*	probably null	Het
Olfr1162	T	C	2: 88,049,784	Y280C	possibly damaging	Het
Olfr623	A	T	7: 103,660,987	F88I	probably benign	Het
Olfr788	A	G	10: 129,473,211	H173R	probably damaging	Het
Pgbd5	T	A	8: 124,374,399	T373S	possibly damaging	Het
Ppp1r8	T	C	4: 132,828,169	E246G	probably benign	Het
Rmnd5b	C	T	11: 51,627,900	V89M	probably damaging	Het
Rnf123	T	C	9: 108,058,356	I969V	probably damaging	Het
Ror2	A	G	13: 53,111,088	I656T	probably damaging	Het
Sgsm1	T	C	5: 113,263,490	E503G	probably benign	Het
Smgc	T	A	15: 91,860,684	S381T	possibly damaging	Het
Tlr4	T	G	4: 66,841,267	F766V	possibly damaging	Het
Tnc	T	C	4: 64,000,701	T1162A	probably damaging	Het
Zdhhc5	A	G	2: 84,691,194	Y352H	probably damaging	Het
Zfp646	A	G	7: 127,878,965	T105A	probably benign	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
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
R7548:Usp39	UTSW	6	72345013	missense	possibly damaging	0.93
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

Posted On

2014-01-21