Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02625:Usp40'

301017

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp40

Ensembl Gene

ENSMUSG00000005501

Gene Name

ubiquitin specific peptidase 40

Synonyms

B230215L03Rik

Accession Numbers

Genbank: NM_001033291

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02625

Quality Score

Status

Chromosome

Chromosomal Location

87945119-88008551 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87950017 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1050 (V1050A)

Ref Sequence

ENSEMBL: ENSMUSP00000038533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040783] [ENSMUST00000187758] [ENSMUST00000188332] [ENSMUST00000189448] [ENSMUST00000190061]

AlphaFold

Q8BWR4

Predicted Effect

probably benign
Transcript: ENSMUST00000040783
AA Change: V1050A

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000038533
Gene: ENSMUSG00000005501
AA Change: V1050A

Domain	Start	End	E-Value	Type
Pfam:UCH	40	344	1.1e-31	PFAM
Pfam:UCH_1	41	320	1.2e-20	PFAM
low complexity region	641	650	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186670

Predicted Effect

probably benign
Transcript: ENSMUST00000187758
AA Change: V1139A

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000140107
Gene: ENSMUSG00000005501
AA Change: V1139A

Domain	Start	End	E-Value	Type
Pfam:UCH	40	346	8.7e-41	PFAM
Pfam:UCH_1	41	319	2.4e-22	PFAM
low complexity region	641	650	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188332

SMART Domains

Protein: ENSMUSP00000140574
Gene: ENSMUSG00000005501

Domain	Start	End	E-Value	Type
Pfam:UCH	40	70	5.9e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189409

Predicted Effect

probably benign
Transcript: ENSMUST00000189448

SMART Domains

Protein: ENSMUSP00000139626
Gene: ENSMUSG00000070738

Domain	Start	End	E-Value	Type
low complexity region	82	93	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190061

SMART Domains

Protein: ENSMUSP00000139658
Gene: ENSMUSG00000070738

Domain	Start	End	E-Value	Type
DAGKa	1	95	7.6e-26	SMART
Blast:DAGKa	119	188	1e-23	BLAST
low complexity region	301	312	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]

Allele List at MGI

All alleles(4) : Targeted, other(2) Gene trapped(2)

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg6	T	A	4: 99,746,347	C109S	probably damaging	Het
Arhgdia	C	A	11: 120,580,213	E53D	probably benign	Het
Ccr4	A	C	9: 114,492,333	C221W	probably damaging	Het
Ces2a	G	A	8: 104,740,278		probably null	Het
Chpf2	G	T	5: 24,591,711	E552*	probably null	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dnmt1	C	T	9: 20,927,146	R207H	probably benign	Het
Dock2	A	G	11: 34,501,168		probably null	Het
Esr1	A	T	10: 5,001,346	T575S	probably benign	Het
Fancc	A	G	13: 63,398,151	C93R	probably damaging	Het
Foxj3	A	T	4: 119,624,917	R523W	unknown	Het
Fryl	C	T	5: 73,069,877		probably benign	Het
Fsip2	A	C	2: 82,949,492	H194P	probably benign	Het
Gaa	G	A	11: 119,274,733	V350I	probably damaging	Het
Gpn3	T	A	5: 122,381,194	I152N	probably damaging	Het
H2-M10.3	T	A	17: 36,367,525	H136L	probably benign	Het
Hist4h4	C	T	6: 136,804,337		probably benign	Het
Hspg2	A	G	4: 137,512,642	D507G	probably damaging	Het
Jcad	A	G	18: 4,674,422	E728G	probably benign	Het
Kat14	G	A	2: 144,402,445	R406H	possibly damaging	Het
Kcnma1	G	T	14: 23,363,832	D863E	probably damaging	Het
Lrp1	A	G	10: 127,574,486	Y1464H	probably damaging	Het
Map4	T	C	9: 110,064,417	S584P	probably damaging	Het
Nlrp4f	G	A	13: 65,199,271	L58F	probably damaging	Het
Nlrp6	A	G	7: 140,923,500	I506M	probably benign	Het
Nudt17	G	A	3: 96,706,464	R266W	probably damaging	Het
Olfr1241	A	G	2: 89,482,674	S154P	probably damaging	Het
Olfr1256	A	G	2: 89,835,396	L183P	probably damaging	Het
Olfr651	A	G	7: 104,553,573	Y218C	probably damaging	Het
Plcb4	A	G	2: 135,961,794	E529G	probably benign	Het
Prss32	A	T	17: 23,856,236	I187F	possibly damaging	Het
Prss55	A	T	14: 64,079,369	I108K	probably damaging	Het
Rcl1	A	G	19: 29,118,341	M109V	probably benign	Het
Rho	A	T	6: 115,935,197	M207L	possibly damaging	Het
Slc12a1	A	G	2: 125,170,691	D291G	probably damaging	Het
Slco2b1	A	C	7: 99,660,123		probably null	Het
Stx11	T	A	10: 12,941,917	D21V	possibly damaging	Het
Svep1	T	A	4: 58,115,807	Y962F	possibly damaging	Het
Tbx5	G	T	5: 119,836,907		probably benign	Het
Tcf12	C	A	9: 71,922,757	G141W	probably damaging	Het
Tmtc2	A	G	10: 105,370,546	M296T	probably damaging	Het
Trim13	T	A	14: 61,605,550	S339T	probably benign	Het
Ugt1a7c	A	G	1: 88,095,517	K133E	possibly damaging	Het
Vmn2r86	T	G	10: 130,452,912	N240T	probably damaging	Het
Wdr36	T	C	18: 32,859,261	V617A	possibly damaging	Het
Wdr38	A	T	2: 38,998,412	N7I	probably damaging	Het
Wdr6	T	C	9: 108,575,505	Y393C	probably damaging	Het
Zfp619	A	T	7: 39,534,185		probably benign	Het

Other mutations in Usp40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Usp40	APN	1	88004238	splice site	probably benign
IGL00828:Usp40	APN	1	87978306	unclassified	probably benign
IGL01090:Usp40	APN	1	87962465	missense	probably benign	0.01
IGL01123:Usp40	APN	1	87986123	missense	probably benign	0.01
IGL01401:Usp40	APN	1	87994198	missense	probably damaging	1.00
IGL02506:Usp40	APN	1	87982016	missense	probably damaging	0.98
IGL02580:Usp40	APN	1	87980966	splice site	probably null
IGL02811:Usp40	APN	1	87995736	missense	probably damaging	1.00
IGL02958:Usp40	APN	1	87978485	missense	probably damaging	0.99
Brink	UTSW	1	87981033	missense	probably benign	0.11
void	UTSW	1	87995713	nonsense	probably null
G5030:Usp40	UTSW	1	87994219	missense	probably damaging	1.00
R0019:Usp40	UTSW	1	87978411	missense	probably benign	0.00
R0282:Usp40	UTSW	1	87980958	splice site	probably benign
R0453:Usp40	UTSW	1	87946598	makesense	probably null
R0646:Usp40	UTSW	1	87978522	missense	probably benign	0.00
R1440:Usp40	UTSW	1	87982086	missense	probably benign	0.01
R1490:Usp40	UTSW	1	87988965	nonsense	probably null
R1620:Usp40	UTSW	1	87994225	missense	probably damaging	1.00
R1881:Usp40	UTSW	1	87994271	missense	probably benign	0.08
R1903:Usp40	UTSW	1	87982056	missense	probably benign	0.15
R1912:Usp40	UTSW	1	87946646	missense	probably benign	0.00
R1919:Usp40	UTSW	1	87995842	missense	possibly damaging	0.75
R1976:Usp40	UTSW	1	87978536	missense	probably benign	0.00
R2111:Usp40	UTSW	1	87950214	missense	probably benign	0.17
R2112:Usp40	UTSW	1	87950214	missense	probably benign	0.17
R2163:Usp40	UTSW	1	87995858	splice site	probably benign
R2432:Usp40	UTSW	1	87982082	missense	probably benign
R2865:Usp40	UTSW	1	87949979	nonsense	probably null
R3885:Usp40	UTSW	1	87967269	missense	probably damaging	1.00
R4360:Usp40	UTSW	1	87952361	missense	probably damaging	1.00
R4370:Usp40	UTSW	1	87997875	missense	probably benign
R4496:Usp40	UTSW	1	87995737	missense	possibly damaging	0.69
R4714:Usp40	UTSW	1	87967179	splice site	probably null
R4888:Usp40	UTSW	1	87986201	critical splice acceptor site	probably null
R4944:Usp40	UTSW	1	87952355	missense	probably benign	0.10
R5269:Usp40	UTSW	1	87995782	missense	probably benign	0.01
R5629:Usp40	UTSW	1	87981009	missense	probably benign
R5696:Usp40	UTSW	1	87995752	missense	probably benign	0.27
R5756:Usp40	UTSW	1	87951691	missense	possibly damaging	0.66
R5887:Usp40	UTSW	1	87999870	missense	probably damaging	1.00
R5910:Usp40	UTSW	1	87968400	nonsense	probably null
R6014:Usp40	UTSW	1	87980016	missense	probably damaging	1.00
R6044:Usp40	UTSW	1	87990150	missense	probably benign
R6083:Usp40	UTSW	1	87978559	missense	probably benign	0.01
R6299:Usp40	UTSW	1	87997927	missense	probably damaging	0.99
R6625:Usp40	UTSW	1	87967213	missense	probably benign	0.01
R6757:Usp40	UTSW	1	87980037	missense	probably damaging	0.99
R6810:Usp40	UTSW	1	87981033	missense	probably benign	0.11
R7110:Usp40	UTSW	1	87986162	missense	probably benign	0.11
R7573:Usp40	UTSW	1	87986072	missense	probably benign	0.09
R7575:Usp40	UTSW	1	87949960	missense	probably damaging	1.00
R7634:Usp40	UTSW	1	87962430	nonsense	probably null
R7756:Usp40	UTSW	1	87967200	missense	probably damaging	0.99
R7767:Usp40	UTSW	1	87982178	missense	probably benign	0.01
R7861:Usp40	UTSW	1	87982130	missense	probably damaging	0.99
R7881:Usp40	UTSW	1	87995713	nonsense	probably null
R7896:Usp40	UTSW	1	87978479	missense	possibly damaging	0.77
R8119:Usp40	UTSW	1	87967678	splice site	probably null
R8354:Usp40	UTSW	1	87980972	missense	probably benign	0.00
R8358:Usp40	UTSW	1	87981048	missense	possibly damaging	0.71
R8425:Usp40	UTSW	1	87959836	missense	probably benign
R8446:Usp40	UTSW	1	87978468	missense	probably benign
R8454:Usp40	UTSW	1	87980972	missense	probably benign	0.00
R8744:Usp40	UTSW	1	87983769	missense	probably benign
R9002:Usp40	UTSW	1	88007341	missense	probably benign
R9033:Usp40	UTSW	1	87995777	utr 3 prime	probably benign
R9210:Usp40	UTSW	1	87957313	missense	possibly damaging	0.90
R9245:Usp40	UTSW	1	87950287	missense	probably benign
R9331:Usp40	UTSW	1	87974106	missense	probably damaging	1.00
R9378:Usp40	UTSW	1	87957310	missense	probably damaging	1.00
R9379:Usp40	UTSW	1	87954167	missense	probably benign
R9501:Usp40	UTSW	1	87997835	missense	probably benign	0.01
R9535:Usp40	UTSW	1	88007439	start gained	probably benign
R9537:Usp40	UTSW	1	88007395	missense	probably benign	0.01
RF006:Usp40	UTSW	1	87967195	missense	possibly damaging	0.47
Z1177:Usp40	UTSW	1	87968414	missense	probably damaging	1.00

Posted On

2015-04-16