Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02506:Usp40'

296349

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02506

Quality Score

Status

Chromosome

Chromosomal Location

87945119-88008551 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87982016 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 572 (I572K)

Ref Sequence

ENSEMBL: ENSMUSP00000140107 (fasta)

Gene Model

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

AlphaFold

Q8BWR4

Predicted Effect

probably damaging
Transcript: ENSMUST00000040783
AA Change: I572K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038533
Gene: ENSMUSG00000005501
AA Change: I572K

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: ENSMUST00000186315

Predicted Effect

probably damaging
Transcript: ENSMUST00000187758
AA Change: I572K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140107
Gene: ENSMUSG00000005501
AA Change: I572K

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

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	G	17: 84,692,488	E189G	possibly damaging	Het
Acad11	T	C	9: 104,091,732		probably null	Het
Adcy7	G	T	8: 88,317,943	R488L	probably damaging	Het
Akt1	C	T	12: 112,659,280		probably benign	Het
Ano9	C	T	7: 141,102,254		probably benign	Het
Arhgap15	A	G	2: 44,063,808	D182G	possibly damaging	Het
Asxl3	T	A	18: 22,452,399	V127D	probably benign	Het
Cacna1g	A	G	11: 94,429,129	M1407T	probably damaging	Het
Card9	A	C	2: 26,354,415		probably benign	Het
Cdh5	A	G	8: 104,137,822	N472D	probably damaging	Het
Ceacam2	T	A	7: 25,527,954	T343S	probably benign	Het
Cic	T	A	7: 25,290,857	C1928S	probably benign	Het
Clk3	C	T	9: 57,754,644	W31*	probably null	Het
Cntn4	A	G	6: 106,618,388	T489A	probably benign	Het
Crispld1	G	A	1: 17,756,305	R431H	probably damaging	Het
Crmp1	T	A	5: 37,278,855		probably benign	Het
Cyld	A	G	8: 88,729,590	T423A	possibly damaging	Het
Cyp3a44	A	T	5: 145,799,388	I84N	probably damaging	Het
D2hgdh	A	G	1: 93,829,785	N141D	probably damaging	Het
Dip2b	T	A	15: 100,157,281	L341Q	probably damaging	Het
F3	C	T	3: 121,731,674	T53I	possibly damaging	Het
Fam227b	T	A	2: 126,003,911	Y386F	probably benign	Het
Fmn1	A	T	2: 113,525,295	T694S	unknown	Het
Gcnt2	T	A	13: 40,887,380	V5E	probably benign	Het
Herpud1	G	T	8: 94,394,642	E355*	probably null	Het
Igf1r	T	C	7: 68,193,396	S752P	probably benign	Het
Iqsec1	T	C	6: 90,672,075	I687V	possibly damaging	Het
Kdm5a	T	C	6: 120,432,149	S1598P	probably damaging	Het
Klk9	A	G	7: 43,795,639	E185G	probably benign	Het
Myo16	G	T	8: 10,390,217	R423L	probably damaging	Het
Myo7b	T	C	18: 31,967,154	E1609G	probably damaging	Het
Nom1	T	A	5: 29,439,816		probably benign	Het
Nomo1	A	G	7: 46,078,056	I1040V	possibly damaging	Het
Olfr887	G	A	9: 38,085,445	G203D	probably damaging	Het
Paqr9	T	C	9: 95,560,695	V246A	probably benign	Het
Pfkfb4	A	T	9: 109,030,336	D437V	probably benign	Het
Phldb1	G	T	9: 44,710,926	D797E	probably benign	Het
Pkd1l3	A	G	8: 109,647,500	E1399G	probably damaging	Het
Plekhs1	G	A	19: 56,471,766	C97Y	probably damaging	Het
Plscr4	A	T	9: 92,489,991	I272L	possibly damaging	Het
Prlhr	A	C	19: 60,467,928	Y67D	probably damaging	Het
Rab3gap2	A	G	1: 185,252,024		probably benign	Het
Rad23b	T	C	4: 55,382,511	V238A	probably benign	Het
Sel1l2	T	C	2: 140,275,460	T164A	possibly damaging	Het
Serpinh1	T	A	7: 99,346,992	K295M	probably damaging	Het
Slc45a4	T	C	15: 73,581,838	E770G	probably benign	Het
Spag4	T	C	2: 156,069,222	L390P	probably damaging	Het
Stip1	A	G	19: 7,035,489		probably benign	Het
Tacr1	A	G	6: 82,403,758	N50S	probably damaging	Het
Tg	T	C	15: 66,741,594	V433A	possibly damaging	Het
Ubap1l	T	A	9: 65,369,211		probably benign	Het
Vps13b	G	T	15: 35,917,162	E3717D	probably damaging	Het
Wdr81	T	C	11: 75,444,406	N1778S	probably benign	Het
Ylpm1	T	A	12: 85,049,191	F1162Y	probably damaging	Het
Zbtb10	T	A	3: 9,265,237	F552I	probably damaging	Het
Zfp507	T	C	7: 35,776,466	I811V	probably damaging	Het
Zfp663	A	T	2: 165,353,951	V116D	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
IGL02580:Usp40	APN	1	87980966	splice site	probably null
IGL02625:Usp40	APN	1	87950017	missense	probably benign	0.19
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
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